FLNB (filamin B)

Gene

• Entrez ID: 2317
• Gene name: Filamin B
• Gene symbol: FLNB
• Synonyms (NCBI Gene): ABP-278, ABP-280, AOI, FH1, FLN-B, FLN1L, LRS1, SCT, TABP, TAP
• Disease Acronyms (UniProt): SCT
• Chromosome: 3
• Chromosome location: 3p14.3
• Summary: This gene encodes a member of the filamin family. The encoded protein interacts with glycoprotein Ib alpha as part of the process to repair vascular injuries. The platelet glycoprotein Ib complex includes glycoprotein Ib alpha, and it binds the actin cyto

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs28937587	G>C	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs77934864	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs80356493	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs80356494	T>A,G	Pathogenic	Missense variant, coding sequence variant
rs80356495	G>T	Pathogenic	Missense variant, coding sequence variant
rs80356496	C>G	Pathogenic	Missense variant, coding sequence variant
rs80356497	A>C	Pathogenic	Missense variant, coding sequence variant
rs80356498	GAC>-	Pathogenic	Inframe deletion, coding sequence variant
rs80356499	C>T	Pathogenic	Missense variant, coding sequence variant
rs80356500	G>T	Pathogenic	Missense variant, coding sequence variant
rs80356501	T>C	Pathogenic	Missense variant, coding sequence variant
rs80356502	G>T	Pathogenic	Missense variant, coding sequence variant
rs80356503	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356504	G>A,T	Pathogenic, likely-pathogenic	Missense variant, coding sequence variant
rs80356505	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356506	T>G	Pathogenic	Missense variant, coding sequence variant
rs80356507	C>G	Pathogenic	Missense variant, coding sequence variant
rs80356508	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356509	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356510	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356511	T>G	Pathogenic	Missense variant, coding sequence variant
rs80356512	TAA>-	Pathogenic	Inframe deletion, coding sequence variant
rs80356513	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356514	T>A	Pathogenic	Missense variant, coding sequence variant
rs80356515	C>T	Pathogenic	Missense variant, coding sequence variant
rs80356516	G>A	Pathogenic	Missense variant, coding sequence variant
rs80356517	C>T	Pathogenic	Stop gained, coding sequence variant
rs80356519	C>T	Pathogenic	Stop gained, coding sequence variant
rs80356520	C>G,T	Pathogenic	Stop gained, missense variant, coding sequence variant
rs80356521	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs121908894	C>T	Pathogenic	Missense variant, coding sequence variant
rs121908895	A>G	Pathogenic	Missense variant, coding sequence variant
rs121908896	T>C	Pathogenic	Missense variant, coding sequence variant
rs121908897	C>T	Pathogenic	Stop gained, coding sequence variant
rs121908898	G>T	Pathogenic	Stop gained, coding sequence variant
rs137885421	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs138220431	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs140018418	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs140332932	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs140926445	T>C	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs141698427	A>G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143566075	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs145910735	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs368472521	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs372726521	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, missense variant
rs531970315	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs587777259	G>A	Pathogenic	Missense variant, coding sequence variant
rs746105983	G>-,GG	Pathogenic	Coding sequence variant, frameshift variant
rs794727854	G>A,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs868820857	C>T	Pathogenic	Missense variant, coding sequence variant
rs886043158	G>T	Pathogenic	Stop gained, coding sequence variant
rs1064796797	C>A,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs1356745912	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1470699812	AGG>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1553701033	GTGAAGCTGG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553703909	ATTG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1575457582	TGTAGGTGGTCT>-	Pathogenic	Splice acceptor variant, intron variant, coding sequence variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT020752	hsa-miR-155-5p	Proteomics	18668040
MIRT021361	hsa-miR-9-5p	Microarray	17612493
MIRT023750	hsa-miR-1-3p	Proteomics;Microarray	18668037
MIRT051871	hsa-let-7c-5p	CLASH	23622248
MIRT049532	hsa-miR-92a-3p	CLASH	23622248
MIRT049532	hsa-miR-92a-3p	CLASH	23622248
MIRT042011	hsa-miR-484	CLASH	23622248
MIRT040586	hsa-miR-92b-3p	CLASH	23622248
MIRT440639	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440638	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT440639	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440638	hsa-miR-485-3p	HITS-CLIP	24374217
MIRT998773	hsa-miR-3157-5p	CLIP-seq
MIRT998774	hsa-miR-3170	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998777	hsa-miR-4323	CLIP-seq
MIRT998778	hsa-miR-4438	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT998781	hsa-miR-4690-3p	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT998783	hsa-miR-4758-3p	CLIP-seq
MIRT998784	hsa-miR-1193	CLIP-seq
MIRT998785	hsa-miR-129-5p	CLIP-seq
MIRT998786	hsa-miR-15a	CLIP-seq
MIRT998787	hsa-miR-15b	CLIP-seq
MIRT998788	hsa-miR-16	CLIP-seq
MIRT998789	hsa-miR-195	CLIP-seq
MIRT998790	hsa-miR-203	CLIP-seq
MIRT998791	hsa-miR-223	CLIP-seq
MIRT998792	hsa-miR-2276	CLIP-seq
MIRT998793	hsa-miR-23a	CLIP-seq
MIRT998794	hsa-miR-23b	CLIP-seq
MIRT998795	hsa-miR-23c	CLIP-seq
MIRT998796	hsa-miR-3135b	CLIP-seq
MIRT998797	hsa-miR-3137	CLIP-seq
MIRT998798	hsa-miR-3152-3p	CLIP-seq
MIRT998799	hsa-miR-3155	CLIP-seq
MIRT998800	hsa-miR-3155b	CLIP-seq
MIRT998801	hsa-miR-3179	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998802	hsa-miR-3652	CLIP-seq
MIRT998803	hsa-miR-3686	CLIP-seq
MIRT998804	hsa-miR-424	CLIP-seq
MIRT998805	hsa-miR-4422	CLIP-seq
MIRT998806	hsa-miR-4430	CLIP-seq
MIRT998807	hsa-miR-4436b-5p	CLIP-seq
MIRT998808	hsa-miR-4446-3p	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT998809	hsa-miR-4492	CLIP-seq
MIRT998810	hsa-miR-4498	CLIP-seq
MIRT998811	hsa-miR-4509	CLIP-seq
MIRT998812	hsa-miR-4652-3p	CLIP-seq
MIRT998813	hsa-miR-4675	CLIP-seq
MIRT998814	hsa-miR-4687-3p	CLIP-seq
MIRT998815	hsa-miR-4696	CLIP-seq
MIRT998816	hsa-miR-4697-3p	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT998817	hsa-miR-4741	CLIP-seq
MIRT998818	hsa-miR-4759	CLIP-seq
MIRT998819	hsa-miR-4772-3p	CLIP-seq
MIRT998820	hsa-miR-497	CLIP-seq
MIRT998821	hsa-miR-544	CLIP-seq
MIRT998822	hsa-miR-545	CLIP-seq
MIRT998823	hsa-miR-548aa	CLIP-seq
MIRT998824	hsa-miR-548ac	CLIP-seq
MIRT998825	hsa-miR-548ae	CLIP-seq
MIRT998826	hsa-miR-548aj	CLIP-seq
MIRT998827	hsa-miR-548am	CLIP-seq
MIRT998828	hsa-miR-548d-3p	CLIP-seq
MIRT998829	hsa-miR-548m	CLIP-seq
MIRT998830	hsa-miR-548p	CLIP-seq
MIRT998831	hsa-miR-548x	CLIP-seq
MIRT998832	hsa-miR-548z	CLIP-seq
MIRT998833	hsa-miR-622	CLIP-seq
MIRT998834	hsa-miR-7	CLIP-seq
MIRT998835	hsa-miR-762	CLIP-seq
MIRT998836	hsa-miR-1255a	CLIP-seq
MIRT998837	hsa-miR-1255b	CLIP-seq
MIRT998838	hsa-miR-184	CLIP-seq
MIRT998839	hsa-miR-3189-3p	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998840	hsa-miR-3616-3p	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT998841	hsa-miR-450b-3p	CLIP-seq
MIRT998842	hsa-miR-4721	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT998843	hsa-miR-769-3p	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT1995966	hsa-miR-122	CLIP-seq
MIRT998785	hsa-miR-129-5p	CLIP-seq
MIRT1995967	hsa-miR-145	CLIP-seq
MIRT998790	hsa-miR-203	CLIP-seq
MIRT998791	hsa-miR-223	CLIP-seq
MIRT1995968	hsa-miR-3117-5p	CLIP-seq
MIRT1995969	hsa-miR-3150a-5p	CLIP-seq
MIRT1995970	hsa-miR-3150b-5p	CLIP-seq
MIRT1995971	hsa-miR-3180	CLIP-seq
MIRT1995972	hsa-miR-3180-3p	CLIP-seq
MIRT1995973	hsa-miR-3196	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT1995974	hsa-miR-361-3p	CLIP-seq
MIRT998802	hsa-miR-3652	CLIP-seq
MIRT1995975	hsa-miR-3656	CLIP-seq
MIRT1995976	hsa-miR-3659	CLIP-seq
MIRT1995977	hsa-miR-3911	CLIP-seq
MIRT1995978	hsa-miR-4328	CLIP-seq
MIRT998806	hsa-miR-4430	CLIP-seq
MIRT1995979	hsa-miR-4455	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT1995980	hsa-miR-4505	CLIP-seq
MIRT1995981	hsa-miR-4666-3p	CLIP-seq
MIRT1995982	hsa-miR-4670-3p	CLIP-seq
MIRT1995983	hsa-miR-4676-5p	CLIP-seq
MIRT998816	hsa-miR-4697-3p	CLIP-seq
MIRT1995984	hsa-miR-4715-5p	CLIP-seq
MIRT1995985	hsa-miR-4731-5p	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT1995986	hsa-miR-4768-5p	CLIP-seq
MIRT1995987	hsa-miR-510	CLIP-seq
MIRT1995988	hsa-miR-512-5p	CLIP-seq
MIRT1995989	hsa-miR-575	CLIP-seq
MIRT1995990	hsa-miR-582-5p	CLIP-seq
MIRT998833	hsa-miR-622	CLIP-seq
MIRT1995991	hsa-miR-647	CLIP-seq
MIRT1995992	hsa-miR-942	CLIP-seq
MIRT2229982	hsa-miR-1343	CLIP-seq
MIRT1995967	hsa-miR-145	CLIP-seq
MIRT2229983	hsa-miR-3064-3p	CLIP-seq
MIRT2229984	hsa-miR-3120-3p	CLIP-seq
MIRT2229985	hsa-miR-3120-5p	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT2229986	hsa-miR-346	CLIP-seq
MIRT2229987	hsa-miR-3657	CLIP-seq
MIRT2229988	hsa-miR-3663-5p	CLIP-seq
MIRT2229989	hsa-miR-3910	CLIP-seq
MIRT2229990	hsa-miR-3942-5p	CLIP-seq
MIRT2229991	hsa-miR-4288	CLIP-seq
MIRT2229992	hsa-miR-4289	CLIP-seq
MIRT2229993	hsa-miR-4326	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT2229994	hsa-miR-4493	CLIP-seq
MIRT2229995	hsa-miR-4527	CLIP-seq
MIRT2229996	hsa-miR-4643	CLIP-seq
MIRT2229997	hsa-miR-466	CLIP-seq
MIRT2229998	hsa-miR-4662a-5p	CLIP-seq
MIRT2229999	hsa-miR-4703-5p	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT2230000	hsa-miR-4762-3p	CLIP-seq
MIRT2230001	hsa-miR-4789-3p	CLIP-seq
MIRT2230002	hsa-miR-632	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT2388019	hsa-miR-3664-3p	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT998782	hsa-miR-4740-5p	CLIP-seq
MIRT998818	hsa-miR-4759	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT2449776	hsa-miR-4659a-3p	CLIP-seq
MIRT2449777	hsa-miR-4659b-3p	CLIP-seq
MIRT998775	hsa-miR-3199	CLIP-seq
MIRT998776	hsa-miR-3202	CLIP-seq
MIRT998779	hsa-miR-4475	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT2449776	hsa-miR-4659a-3p	CLIP-seq
MIRT2449777	hsa-miR-4659b-3p	CLIP-seq
MIRT2533827	hsa-miR-1184	CLIP-seq
MIRT2533828	hsa-miR-1205	CLIP-seq
MIRT2533829	hsa-miR-1286	CLIP-seq
MIRT2533830	hsa-miR-1290	CLIP-seq
MIRT2533831	hsa-miR-1299	CLIP-seq
MIRT1995968	hsa-miR-3117-5p	CLIP-seq
MIRT1995969	hsa-miR-3150a-5p	CLIP-seq
MIRT1995970	hsa-miR-3150b-5p	CLIP-seq
MIRT2533832	hsa-miR-3158-5p	CLIP-seq
MIRT2533833	hsa-miR-3162-3p	CLIP-seq
MIRT2533834	hsa-miR-3167	CLIP-seq
MIRT2533835	hsa-miR-3714	CLIP-seq
MIRT2533836	hsa-miR-3938	CLIP-seq
MIRT2533837	hsa-miR-4267	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT2229995	hsa-miR-4527	CLIP-seq
MIRT2533838	hsa-miR-4722-5p	CLIP-seq
MIRT2533839	hsa-miR-4742-5p	CLIP-seq
MIRT2533840	hsa-miR-4782-5p	CLIP-seq
MIRT2533841	hsa-miR-516b	CLIP-seq
MIRT2533842	hsa-miR-876-5p	CLIP-seq
MIRT2533843	hsa-miR-940	CLIP-seq
MIRT2533827	hsa-miR-1184	CLIP-seq
MIRT2533828	hsa-miR-1205	CLIP-seq
MIRT2533829	hsa-miR-1286	CLIP-seq
MIRT2533831	hsa-miR-1299	CLIP-seq
MIRT1995968	hsa-miR-3117-5p	CLIP-seq
MIRT1995969	hsa-miR-3150a-5p	CLIP-seq
MIRT1995970	hsa-miR-3150b-5p	CLIP-seq
MIRT2533832	hsa-miR-3158-5p	CLIP-seq
MIRT2533833	hsa-miR-3162-3p	CLIP-seq
MIRT2533835	hsa-miR-3714	CLIP-seq
MIRT2533836	hsa-miR-3938	CLIP-seq
MIRT2533837	hsa-miR-4267	CLIP-seq
MIRT998780	hsa-miR-4476	CLIP-seq
MIRT2229995	hsa-miR-4527	CLIP-seq
MIRT2533838	hsa-miR-4722-5p	CLIP-seq
MIRT2533839	hsa-miR-4742-5p	CLIP-seq
MIRT2533840	hsa-miR-4782-5p	CLIP-seq
MIRT2533841	hsa-miR-516b	CLIP-seq
MIRT2533843	hsa-miR-940	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003723	Function	RNA binding	HDA	22681889
GO:0003779	Function	Actin binding	NAS	8327473
GO:0005515	Function	Protein binding	IPI	10644691, 10676904, 12393796, 12577067, 16076904, 17474147, 19270716
GO:0005634	Component	Nucleus	IEA
GO:0005737	Component	Cytoplasm	HDA	16791210
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0005925	Component	Focal adhesion	HDA	21423176
GO:0005938	Component	Cell cortex	IEA
GO:0007165	Process	Signal transduction	TAS	8327473
GO:0007517	Process	Muscle organ development	IEA
GO:0015629	Component	Actin cytoskeleton	TAS	9651345
GO:0016021	Component	Integral component of membrane	NAS	8327473
GO:0030018	Component	Z disc	IEA
GO:0030036	Process	Actin cytoskeleton organization	IEA
GO:0030154	Process	Cell differentiation	IEA
GO:0042802	Function	Identical protein binding	IPI	12393796
GO:0043005	Component	Neuron projection	IEA
GO:0043025	Component	Neuronal cell body	IEA
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0070062	Component	Extracellular exosome	HDA	19056867, 23533145

Other IDs

• MIM: 603381
• HGNC: 3755
• e!Ensembl: ENSG00000136068

Protein

• UniProt ID: O75369
• Protein name: Filamin-B (FLN-B) (ABP-278) (ABP-280 homolog) (Actin-binding-like protein) (Beta-filamin) (Filamin homolog 1) (Fh1) (Filamin-3) (Thyroid autoantigen) (Truncated actin-binding protein) (Truncated ABP)
• Protein function: Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Anchors various transmembrane proteins to the actin cytoskeleton. Interaction
• PDB: 2DI8, 2DI9, 2DIA, 2DIB, 2DIC, 2DJ4, 2DLG, 2DMB, 2DMC, 2E9I, 2E9J, 2EE6, 2EE9, 2EEA, 2EEB, 2EEC, 2EED, 2WA5, 2WA6, 2WA7, 3FER, 4B7L, 5DCP
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00307	CH	16 → 123	Calponin homology (CH) domain	Domain
  PF00307	CH	139 → 243	Calponin homology (CH) domain	Domain
  PF00630	Filamin	251 → 344	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	351 → 443	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	449 → 540	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	546 → 633	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	642 → 733	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	739 → 836	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	842 → 935	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	941 → 1031	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1037 → 1124	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1130 → 1219	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1225 → 1319	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1325 → 1412	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1418 → 1508	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1514 → 1605	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1611 → 1701	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1735 → 1813	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1818 → 1905	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	1999 → 2086	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2098 → 2182	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2190 → 2277	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2286 → 2372	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2381 → 2468	Filamin/ABP280 repeat	Domain
  PF00630	Filamin	2509 → 2598	Filamin/ABP280 repeat	Domain

• Tissue specificity: TISSUE SPECIFICITY: Ubiquitous. Isoform 1 and isoform 2 are expressed in placenta, bone marrow, brain, umbilical vein endothelial cells (HUVEC), retina and skeletal muscle. Isoform 1 is predominantly expressed in prostate, uterus, liver, thyroid, stomach,
• Sequence:

  MPVTEKDLAEDAPWKKIQQNTFTRWCNEHLKCVNKRIGNLQTDLSDGLRLIALLEVLSQK
  RMYRKYHQRPTFRQMQLENVSVALEFLDRESIKLVSIDSKAIVDGNLKLILGLVWTLILH
  YSISMPVWEDEGDDDAKKQTPKQRLLGWIQNKIPYLPITNFNQNWQDGKALGALVDSCAP
  GLCPDWESWDPQKPVDNAREAMQQADDWLGVPQVITPEEIIHPDVDEHSVMTYLSQFPKA
  KLKPGAPLKPKLNPKKARAYGRGIEPTGNMVKQPAKFTVDTISAGQGDVMVFVEDPEGNK
  EEAQVTPDSDKNKTYSVEYLPKVTGLHKVTVLFAGQHISKSPFEVSVDKAQGDASKVTAK
  GPGLEAVGNIANKPTYFDIYTAGAGVGDIGVEVEDPQGKNTVELLVEDKGNQVYRCVYKP
  MQPGPHVVKIFFAGDTIPKSPFVVQVGEACNPNACRASGRGLQPKGVRIRETTDFKVDTK
  AAGSGELGVTMKGPKGLEELVKQKDFLDGVYAFEYYPSTPGRYSIAITWGGHHIPKSPFE
  VQVGPEAGMQKVRAWGPGLHGGIVGRSADFVVESIGSEVGSLGFAIEGPSQAKIEYNDQN
  DGSCDVKYWPKEPGEYAVHIMCDDEDIKDSPYMAFIHPATGGYNPDLVRAYGPGLEKSGC
  IVNNLAEFTVDPKDAGKAPLKIFAQDGEGQRIDIQMKNRMDGTYACSYTPVKAIKHTIAV
  VWGGVNIPHSPYRVNIGQGSHPQKVKVFGPGVERSGLKANEPTHFTVDCTEAGEGDVSVG
  IKCDARVLSEDEEDVDFDIIHNANDTFTVKYVPPAAGRYTIKVLFASQEIPASPFRVKVD
  PSHDASKVKAEGPGLSKAGVENGKPTHFTVYTKGAGKAPLNVQFNSPLPGDAVKDLDIID
  NYDYSHTVKYTPTQQGNMQVLVTYGGDPIPKSPFTVGVAAPLDLSKIKLNGLENRVEVGK
  DQEFTVDTRGAGGQGKLDVTILSPSRKVVPCLVTPVTGRENSTAKFIPREEGLYAVDVTY
  DGHPVPGSPYTVEASLPPDPSKVKAHGPGLEGGLVGKPAEFTIDTKGAGTGGLGLTVEGP
  CEAKIECSDNGDGTCSVSYLPTKPGEYFVNILFEEVHIPGSPFKADIEMPFDPSKVVASG
  PGLEHGKVGEAGLLSVDCSEAGPGALGLEAVSDSGTKAEVSIQNNKDGTYAVTYVPLTAG
  MYTLTMKYGGELVPHFPARVKVEPAVDTSRIKVFGPGIEGKDVFREATTDFTVDSRPLTQ
  VGGDHIKAHIANPSGASTECFVTDNADGTYQVEYTPFEKGLHVVEVTYDDVPIPNSPFKV
  AVTEGCQPSRVQAQGPGLKEAFTNKPNVFTVVTRGAGIGGLGITVEGPSESKINCRDNKD
  GSCSAEYIPFAPGDYDVNITYGGAHIPGSPFRVPVKDVVDPSKVKIAGPGLGSGVRARVL
  QSFTVDSSKAGLAPLEVRVLGPRGLVEPVNVVDNGDGTHTVTYTPSQEGPYMVSVKYADE
  EIPRSPFKVKVLPTYDASKVTASGPGLSSYGVPASLPVDFAIDARDAGEGLLAVQITDQE
  GKPKRAIVHDNKDGTYAVTYIPDKTGRYMIGVTYGGDDIPLSPYRIRATQTGDASKCLAT
  GPGIASTVKTGEEVGFVVDAKTAGKGKVTCTVLTPDGTEAEADVIENEDGTYDIFYTAAK
  PGTYVIYVRFGGVDIPNSPFTVMATDGEVTAVEEAPVNACPPGFRPWVTEEAYVPVSDMN
  GLGFKPFDLVIPFAVRKGEITGEVHMPSGKTATPEIVDNKDGTVTVRYAPTEVGLHEMHI
  KYMGSHIPESPLQFYVNYPNSGSVSAYGPGLVYGVANKTATFTIVTEDAGEGGLDLAIEG
  PSKAEISCIDNKDGTCTVTYLPTLPGDYSILVKYNDKHIPGSPFTAKITDDSRRCSQVKL
  GSAADFLLDISETDLSSLTASIKAPSGRDEPCLLKRLPNNHIGISFIPREVGEHLVSIKK
  NGNHVANSPVSIMVVQSEIGDARRAKVYGRGLSEGRTFEMSDFIVDTRDAGYGGISLAVE
  GPSKVDIQTEDLEDGTCKVSYFPTVPGVYIVSTKFADEHVPGSPFTVKISGEGRVKESIT
  RTSRAPSVATVGSICDLNLKIPEINSSDMSAHVTSPSGRVTEAEIVPMGKNSHCVRFVPQ
  EMGVHTVSVKYRGQHVTGSPFQFTVGPLGEGGAHKVRAGGPGLERGEAGVPAEFSIWTRE
  AGAGGLSIAVEGPSKAEITFDDHKNGSCGVSYIAQEPGNYEVSIKFNDEHIPESPYLVPV
  IAPSDDARRLTVMSLQESGLKVNQPASFAIRLNGAKGKIDAKVHSPSGAVEECHVSELEP
  DKYAVRFIPHENGVHTIDVKFNGSHVVGSPFKVRVGEPGQAGNPALVSAYGTGLEGGTTG
  IQSEFFINTTRAGPGTLSVTIEGPSKVKMDCQETPEGYKVMYTPMAPGNYLISVKYGGPN
  HIVGSPFKAKVTGQRLVSPGSANETSSILVESVTRSSTETCYSAIPKASSDASKVTSKGA
  GLSKAFVGQKSSFLVDCSKAGSNMLLIGVHGPTTPCEEVSMKHVGNQQYNVTYVVKERGD
  YVLAVKWGEEHIPGSPFHVTVP

• Sequence length: 2602

Pathways

KEGG:

Focal adhesion

Reactome:

ISG15 antiviral mechanism

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Aortic aneurysm	Aortic Aneurysm	rs1555554098, rs267606902, rs121434526, rs121434527, rs121434528, rs387906592, rs387906781, rs387906782, rs397516685, rs397514037, rs112901682, rs397515325, rs397515330, rs794728025, rs112602953, rs794728021, rs8046180, rs797045725, rs876657852, rs878854466, rs886038978, rs746972765, rs886039303, rs886040965, rs886040966, rs886040967, rs886229659, rs1553781304, rs1060502531, rs1553795301, rs1553803235, rs1213452826, rs869025352, rs1553780501, rs1553785222, rs1382893400, rs1554841990, rs1430822242, rs1567692384, rs1576422965, rs1596712899, rs2059732940, rs2041090817, rs1439991530
Atelosteogenesis	Atelosteogenesis, type 1, Atelosteogenesis Type 3, Atelosteogenesis type I, Atelosteogenesis type III	rs386833498, rs786200881, rs104893915, rs104893924, rs121908894, rs121908895, rs28937587, rs386833495, rs386833499, rs121908077, rs587777259, rs875989951, rs1057517523, rs1057517496, rs1057517462, rs1057517504, rs763198695, rs1057517483, rs1057517461, rs1057517524, rs1057517514, rs1057517526, rs1057517495, rs1057517532, rs1057517471, rs1057517502, rs1057517511, rs1057517482, rs1057517530, rs1057517474, rs762137330, rs1057517513, rs769859976	14991055
Atrial septal defect	Atrial Septal Defects	rs137852951, rs137852953, rs137852955, rs267607106, rs104893900, rs104893901, rs104893903, rs606231358, rs606231359, rs137852683, rs606231360, rs104893907, rs104894073, rs1585703301, rs104894074, rs267606903, rs121912677, rs387906585, rs387906773, rs72554028, rs587782928, rs587782929, rs587782930, rs587784067, rs1555226315, rs879253754, rs1114167356, rs773922431, rs1554093487, rs1554093433, rs1554093461, rs1561621507, rs1561619801, rs766692577, rs1581108237, rs1581111034, rs1579663872, rs1583066622, rs1456289029, rs1761430125
Boomerang dysplasia	Boomerang dysplasia	rs80356494, rs121908896	14991055, 15994868
Brachydactyly	Brachydactyly	rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852, rs121917853, rs121917854, rs121917855, rs121917859, rs121917861, rs267606873, rs267606872, rs267606985, rs267606986, rs267606987, rs267606988, rs28933082, rs397514519, rs869025613, rs869025614, rs886039878, rs1553540620, rs1057518333, rs1948841937, rs1948868228, rs1948842030, rs1948842142
Breast cancer	Malignant neoplasm of breast	rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158, rs80357524, rs80357115, rs80357945, rs80357729, rs80357609, rs80357259, rs80357981, rs80358063, rs80357389, rs80356862, rs80359876, rs80357580, rs80358053, rs80358089, rs80187739, rs397507241, rs80358069, rs80357590, rs80357284, rs80357941, rs80359261, rs80359272, rs80359276, rs276174813, rs80358474, rs80359316, rs1555282969, rs80359388, rs80359499, rs80359505, rs80359520, rs80359526, rs80359533, rs56253082, rs80358824, rs80359554, rs80359636, rs80359651, rs80359659, rs80359011, rs80359012, rs80359013, rs80359718, rs397507410, rs81002812, rs80359730, rs80359152, rs80359159, rs397507419, rs28897759, rs80359211, rs80359775, rs397514577, rs397507584, rs80358435, rs80358456, rs80359340, rs80359343, rs80359365, rs80358579, rs397507670, rs80358593, rs80359406, rs80359444, rs80359454, rs276174853, rs276174854, rs80359483, rs80359537, rs80358815, rs80358843, rs80359558, rs80359560, rs80359594, rs80358893, rs28897743, rs397507900, rs397507906, rs397507918, rs80358971, rs80358981, rs397507941, rs80359030, rs80359035, rs41293511, rs397507396, rs81002806, rs80359112, rs397508006, rs81002893, rs45580035, rs80359760, rs397508051, rs80359772, rs4987049, rs80359777, rs80357770, rs397508867, rs62625303, rs397508874, rs80357506, rs80357287, rs273898674, rs80358042, rs80358083, rs80357058, rs41286296, rs80357960, rs80356945, rs80357223, rs386134270, rs80358116, rs80357856, rs80357424, rs397509050, rs80357485, rs80357966, rs397509067, rs80357310, rs80356866, rs80357260, rs80357437, rs80358023, rs80358086, rs80357133, rs80356993, rs80357997, rs80357239, rs80357227, rs397509243, rs80356969, rs80356959, rs63750617, rs63751319, rs587779315, rs200640585, rs398122546, rs80357543, rs398122687, rs80359328, rs398122779, rs398122783, rs62517194, rs80358029, rs515726060, rs180177103, rs180177111, rs180177133, rs587776527, rs180177135, rs180177136, rs515726117, rs587779813, rs587779909, rs587780024, rs587780100, rs28909982, rs121908698, rs180177100, rs587780210, rs587780240, rs587780639, rs587781269, rs587781353, rs587781471, rs587781658, rs587781697, rs587781730, rs587781894, rs587781948, rs587782005, rs587782011, rs200928781, rs587781558, rs370228071, rs587782245, rs587782401, rs180177110, rs587782504, rs72552322, rs587782531, rs587782620, rs587782680, rs587782774, rs587782818, rs730881411, rs730881389, rs564652222, rs397507768, rs587776419, rs730881868, rs730881940, rs56383036, rs758972589, rs201089102, rs730881348, rs786202608, rs786201886, rs786203318, rs786203775, rs786203714, rs786202033, rs750621215, rs786203884, rs786203650, rs772821016, rs863224521, rs864622223, rs864622655, rs375699023, rs876659572, rs768362387, rs876659535, rs876658957, rs483353072, rs876659435, rs267608041, rs876661113, rs730881369, rs878853535, rs772228129, rs878855122, rs760551339, rs80359596, rs397509222, rs886039630, rs886039683, rs886040828, rs587781799, rs886040374, rs886040649, rs397507967, rs878854957, rs886040043, rs1057517589, rs1060502769, rs866380588, rs863224765, rs1064793243, rs747563556, rs1555074976, rs1064795885, rs753961188, rs1064794708, rs869312772, rs1064793887, rs1131690820, rs1135401928, rs1135401868, rs1135401859, rs1553370324, rs397507630, rs1555283160, rs1555283251, rs1555283262, rs1555283361, rs1555286298, rs1555288462, rs886040950, rs1555289566, rs776323117, rs80357123, rs1555579627, rs1555580697, rs80358054, rs1555593302, rs1328985852, rs763470424, rs1555139694, rs878854697, rs1555461217, rs1555461765, rs774684620, rs766416564, rs1554558613, rs1305740166, rs1555461460, rs1555461407, rs1555461586, rs1555567202, rs1555607022, rs1555069815, rs1442299125, rs1474786480, rs1555084947, rs1555457867, rs141087784, rs1482641121, rs1564830522, rs1565469955, rs1565503137, rs864622613, rs755263466, rs757679199, rs1593903166, rs1597801649, rs1603293306, rs879253880, rs80358754, rs1597062038, rs45494092, rs1603275367, rs887358871, rs1597091518, rs1966967065, rs1064793049, rs2082872908, rs2085078278, rs2072475243
Cataract	Cataract	rs118203965, rs118203966, rs104893685, rs121908938, rs104894175, rs121909048, rs28937573, rs121909049, rs121909050, rs74315488, rs80358200, rs80358203, rs121434643, rs56141211, rs132630322, rs121917775, rs121917735, rs121917736, rs137853199, rs137853200, rs121917867, rs121917869, rs121913555, rs104893736, rs121909595, rs121909596, rs121909597, rs28931605, rs121909598, rs104893618, rs1695062782, rs74315486, rs74315487, rs74315490, rs74315489, rs745938679, rs1566402656, rs74315439, rs74315441, rs121912973, rs121917823, rs1593332981, rs121917825, rs121917827, rs113994108, rs387906963, rs387906964, rs1240503246, rs387906965, rs387906966, rs750207077, rs387907336, rs387907337, rs387907342, rs140332366, rs397514703, rs398122937, rs398122378, rs398122392, rs398122944, rs137853924, rs398122947, rs397515623, rs397515624, rs397515625, rs397515626, rs398122948, rs587778872, rs398123066, rs587777601, rs370424081, rs786205221, rs786205222, rs864309684, rs864309688, rs864309701, rs864309689, rs864309690, rs864309681, rs864309686, rs864309696, rs864309693, rs864309687, rs864309691, rs864309692, rs864309695, rs864309678, rs864309685, rs864309700, rs864309698, rs864309683, rs864309682, rs864309679, rs111534978, rs864309680, rs864309702, rs864622780, rs756898971, rs869312732, rs775038545, rs878852983, rs1114167312, rs1114167313, rs1114167314, rs1114167315, rs1114167307, rs886041410, rs886041412, rs1057518738, rs1057517926, rs1057518878, rs1057519616, rs12799308, rs1064793935, rs1064797219, rs1085307126, rs1085307127, rs765628635, rs1114167427, rs1114167433, rs1554744860, rs1554743428, rs747093432, rs1411557416, rs1555179713, rs1481963503, rs1555549755, rs1456161420, rs1555547008, rs1555889308, rs1555888762, rs766522434, rs1264025914, rs1553585262, rs1567671947, rs1337897299, rs764945940, rs1307969607, rs949335475, rs1184095219, rs776129797, rs1569203234, rs1567668570, rs749141857, rs764098604, rs1184398243, rs1578956689, rs1568480054, rs1564745688, rs1564722302, rs1564723150, rs1571175950, rs1569602837, rs1576552712, rs1575369255, rs981126461, rs1570403798, rs200557771, rs1477743112, rs1651879427, rs1651881222, rs1651919374, rs2024441691, rs148284531, rs1246080692
Craniosynostosis	Craniosynostosis	rs104893895, rs587777006, rs587777007, rs587777008, rs587777010, rs864321680, rs864321681, rs1057517670, rs1064794325, rs1555750816, rs1599823350
Cryptorchidism	Cryptorchidism	rs121912555, rs104894697, rs104894698, rs398122886
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Epiphyseal dysplasia	Epiphyseal dysplasia	rs137852652, rs28936668, rs1600786629, rs1600786748, rs606231367, rs1569763139, rs1569763108, rs1085307973, rs1555821817
Hearing loss	Conductive hearing loss, Sensorineural Hearing Loss (disorder), Hearing Loss, Mixed Conductive-Sensorineural	rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060
Hydrops fetalis	Hydrops Fetalis	rs28935477, rs1131691986
Isolated somatotropin deficiency	Isolated somatotropin deficiency	rs797044450, rs71640277, rs863223306, rs2144738731, rs863223307, rs2144739370, rs863223309, rs863223310, rs137853223, rs2144739380, rs2144739391
Larsen syndrome	Larsen syndrome, Larsen syndrome, dominant type	rs80356506, rs80356513, rs80356508, rs80356503, rs28933068, rs80356511, rs80356516, rs387906937, rs80356504, rs879255269, rs372487178, rs794727854, rs1553704446, rs377340567, rs868820857, rs1589510055	14991055, 16801345
Mental retardation	Intellectual Disability	rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315, rs121918316, rs397515320, rs121434489, rs1585215916, rs267607233, rs267606752, rs137852214, rs606231193, rs132630297, rs80338758, rs137852815, rs122455132, rs28935171, rs122453113, rs122445108, rs28934904, rs28934908, rs28935468, rs61748421, rs121918624, rs202060209, rs80338708, rs113994198, rs199422192, rs387906635, rs1554770064, rs1057519611, rs1060499526, rs387906636, rs1057519612, rs281875189, rs281875322, rs387906799, rs387906804, rs875989800, rs797045262, rs387906845, rs387906846, rs876657378, rs281875227, rs281875228, rs281875229, rs281875230, rs387906861, rs370667926, rs387906932, rs387906943, rs1557612719, rs387907190, rs387907191, rs2126499522, rs587776908, rs1560982564, rs80359505, rs398123009, rs587776929, rs587776930, rs397514555, rs398122824, rs398122825, rs397514556, rs2147483647, rs587776937, rs397514627, rs397514655, rs397514656, rs730882192, rs1587520018, rs1581995953, rs1554121970, rs1581987445, rs397514670, rs376395543, rs137854128, rs397509411, rs397509412, rs397514741, rs398122394, rs879255516, rs397518483, rs398122406, rs398122412, rs398123561, rs200667343, rs587777162, rs587777202, rs62507350, rs587777219, rs587777225, rs587777226, rs587779750, rs587777326, rs587777334, rs281875332, rs587780470, rs587780474, rs587780486, rs587777378, rs587777406, rs587777408, rs587777409, rs587777411, rs587777522, rs527236034, rs527236035, rs267608571, rs267608382, rs267608597, rs61753979, rs61751444, rs267608493, rs587777644, rs587777645, rs587777646, rs587777703, rs587779388, rs606231266, rs606231267, rs672601340, rs606231268, rs672601341, rs606231269, rs672601342, rs606231270, rs606231271, rs606231272, rs606231273, rs587784566, rs587784092, rs587783749, rs587783747, rs587783640, rs587783483, rs606231456, rs606231457, rs606231458, rs606231459, rs672601370, rs672601369, rs672601371, rs672601367, rs672601366, rs672601365, rs672601364, rs672601363, rs672601362, rs672601376, rs672601377, rs672601378, rs724159949, rs724159950, rs724159948, rs724159956, rs724159953, rs727502860, rs727502861, rs730882197, rs749995448, rs786205143, rs794726770, rs1135401808, rs786205583, rs786205595, rs786205859, rs794727792, rs794727928, rs794729221, rs797044519, rs797044523, rs797044521, rs797044524, rs797044526, rs797044522, rs797044520, rs794727642, rs796052719, rs781746113, rs796052510, rs796052733, rs796052724, rs796052728, rs796052676, rs796053353, rs796053366, rs796053368, rs1555103986, rs1555110818, rs796052571, rs1555110843, rs796052626, rs796052618, rs796053290, rs796052217, rs672601368, rs797045164, rs797044961, rs797044962, rs200070245, rs797044963, rs869320675, rs869320676, rs797045012, rs752746786, rs797044885, rs797044925, rs797044854, rs797044849, rs797044930, rs797044901, rs797044918, rs797044884, rs797045177, rs797045178, rs797045050, rs797045036, rs797045053, rs797045047, rs797045037, rs797045042, rs797045041, rs879255261, rs782397980, rs797045263, rs797045264, rs797045655, rs797045586, rs545185248, rs797046031, rs797046028, rs797046029, rs797046030, rs797045249, rs797045529, rs797045952, rs797045984, rs797045540, rs797045539, rs797045989, rs863224930, rs869025202, rs863225264, rs863225077, rs876661308, rs869025222, rs864309560, rs758252808, rs745756308, rs869025286, rs869025287, rs869025578, rs143038880, rs869025579, rs869025580, rs869025581, rs869312704, rs869312674, rs869312677, rs869312689, rs869312693, rs869312698, rs869312708, rs869312711, rs869312826, rs869312825, rs869312824, rs869312823, rs758432471, rs869312821, rs761993070, rs869312844, rs869312842, rs869312843, rs869312841, rs869312847, rs869320632, rs869312955, rs773432002, rs869320713, rs869320772, rs869320773, rs879255270, rs875989848, rs875989849, rs1716457622, rs2108414289, rs878854401, rs875989786, rs1085307109, rs1085307108, rs876657679, rs876661167, rs876661076, rs876661055, rs876661219, rs876661064, rs876661151, rs876661041, rs200440467, rs876661295, rs878853045, rs878853143, rs878853142, rs878853149, rs1555910048, rs878853152, rs878853146, rs878853145, rs878853141, rs878853151, rs878853144, rs878853148, rs878853147, rs878853251, rs878853269, rs879253762, rs886037841, rs879253888, rs879253931, rs879254016, rs879255618, rs879255619, rs879255620, rs886037847, rs879255621, rs886039332, rs746177928, rs886039520, rs886041003, rs886041058, rs750035706, rs886041059, rs886041060, rs886041061, rs886041090, rs886041088, rs886041089, rs886041095, rs886041097, rs886041989, rs886041944, rs886041692, rs886041593, rs886041687, rs886041207, rs886041309, rs886041239, rs886041448, rs138336847, rs149644940, rs886041295, rs886041521, rs886041125, rs886042041, rs886041238, rs886041469, rs886041197, rs886041291, rs886041658, rs886041705, rs886041876, rs139716296, rs1057516030, rs1057517408, rs749655461, rs141179774, rs370916968, rs1057517676, rs1057517933, rs1057517708, rs1057518352, rs1057518183, rs1057518474, rs1057518204, rs1057517825, rs1057518796, rs1057518961, rs1057518772, rs1057518988, rs1057519004, rs1057518700, rs772450541, rs371310428, rs1057519019, rs1057519491, rs1057519546, rs1057519560, rs1057519565, rs1057519400, rs1057519402, rs1057519405, rs1057519593, rs1057519594, rs1057519628, rs1556912828, rs1060505029, rs1060505030, rs147001633, rs1057519947, rs1057519617, rs1057524832, rs774592932, rs797045045, rs1039571136, rs1555910821, rs1060499626, rs1060499655, rs1554770185, rs1060499936, rs1060501153, rs1060501151, rs1064792984, rs1060503378, rs1060503386, rs1060503383, rs1060500046, rs1064792999, rs1060505033, rs1064796564, rs1064797002, rs1064793161, rs150802299, rs1064796830, rs1064794996, rs1064795444, rs1064796034, rs1064796403, rs1064794979, rs1064796765, rs1064793539, rs760933323, rs1064793546, rs1064796406, rs1064796367, rs780441716, rs1064794894, rs1064796023, rs1064797355, rs1085307484, rs1064794935, rs1085307547, rs1131690804, rs757511770, rs1131691875, rs1131691979, rs398122823, rs1131691866, rs1131692159, rs1131692228, rs1131692154, rs113331868, rs1554121872, rs1554121875, rs926027867, rs1554122123, rs1554122129, rs1287121256, rs1554122526, rs1554123982, rs1554385102, rs1554385111, rs1554385305, rs1554386687, rs1554389088, rs1554402092, rs1554434435, rs1135401778, rs1135401760, rs1135401770, rs1135401771, rs1135401768, rs1135401779, rs1135401805, rs1135401797, rs1135401799, rs1135401816, rs1135401823, rs1135401824, rs1555769968, rs1135401825, rs1135401955, rs1135401956, rs1135401957, rs1135401958, rs1554129040, rs1554150543, rs1553188463, rs1553146165, rs1485978447, rs1361547443, rs750079325, rs369692236, rs1554231836, rs749188610, rs1554122735, rs1554689877, rs1174482090, rs781053477, rs1554623112, rs1555409836, rs1555411305, rs770014321, rs1555984461, rs1555990958, rs762292772, rs1554944271, rs1057524157, rs1485749468, rs1555984343, rs1293450628, rs373584239, rs1553722309, rs1553738686, rs1376334317, rs1553722294, rs1553283831, rs1554120589, rs1555985554, rs1555877287, rs1555411378, rs750922282, rs1553264873, rs1554263326, rs1554264268, rs1554263626, rs1554263625, rs766614772, rs1553620494, rs1555050158, rs1555050165, rs1555050171, rs1555050174, rs765556214, rs1402086660, rs1554645052, rs1555661648, rs1293246328, rs749494995, rs775592405, rs1553265189, rs1553242856, rs1553247374, rs1553241570, rs1553997065, rs1553998565, rs1380822792, rs1555028154, rs1555023232, rs1553194155, rs1553130904, rs1553152590, rs1553567864, rs1553638614, rs120074160, rs1554486894, rs1554767754, rs1554843977, rs1555443581, rs1555443600, rs1555439545, rs1555525088, rs770680174, rs1555889130, rs373178770, rs1555985532, rs1553519853, rs781325598, rs1410587479, rs1553638086, rs150259543, rs1554093891, rs1554121228, rs1554120498, rs1554121189, rs1212517874, rs1554770628, rs1555979158, rs1554770054, rs771610568, rs1451230055, rs1554770624, rs1555906707, rs1555906768, rs1555906781, rs1555907620, rs1555907623, rs1555907626, rs1555907653, rs1555907864, rs1554094145, rs1554202698, rs1554200722, rs773327091, rs1555607621, rs1555604778, rs1555607159, rs1555607682, rs1553364018, rs1553324416, rs1555411394, rs1554102556, rs1554122363, rs1555705966, rs1555103971, rs1555408401, rs1554461593, rs1554304254, rs1554120978, rs1047509819, rs1555982601, rs767774867, rs1554789246, rs1555111511, rs1555950676, rs1555954380, rs1555985649, rs1553194162, rs1553518509, rs1274633498, rs1554274371, rs1554122252, rs1554122458, rs1554122729, rs1554297905, rs1554776342, rs1554770046, rs1554770667, rs1554792556, rs1452715535, rs1555444885, rs1555534147, rs1427624649, rs1555611722, rs1555744282, rs1555706391, rs1178702025, rs1555984102, rs1554770589, rs1554121443, rs1559791842, rs1559824939, rs1555889127, rs1236702036, rs1553510280, rs1553511175, rs1553511226, rs1554150552, rs1554275163, rs1554201137, rs1553517991, rs1553518511, rs1553517984, rs1553518752, rs1554119814, rs1554122293, rs1554122341, rs1554122689, rs1554770243, rs1554770444, rs1557045250, rs959316981, rs1556270312, rs1553270640, rs978179634, rs1554093884, rs1491240980, rs1555943484, rs1554121453, rs1334099693, rs1554048616, rs1555660806, rs1555644480, rs1555651572, rs1567844992, rs1567855081, rs1567855669, rs1567855704, rs1567856045, rs1567856331, rs1567860075, rs1567860112, rs1567860640, rs1567860891, rs754919272, rs1567860919, rs1567861468, rs1567861489, rs1567861501, rs1567861894, rs1567863732, rs1567864750, rs1567877108, rs1567878511, rs758785463, rs1553808301, rs1553245038, rs1553789166, rs1553813646, rs1553631860, rs1554121265, rs1554770262, rs1555034768, rs1555984433, rs779009256, rs1553994814, rs1553996086, rs1553996072, rs1553270599, rs1553153291, rs760262127, rs1554119274, rs1554121878, rs1554387293, rs1554385203, rs757077698, rs750612085, rs1554776500, rs1564360978, rs1554776933, rs1554776938, rs1565278132, rs1567368243, rs1558478047, rs375695605, rs1558479778, rs1558501648, rs1565240833, rs114727354, rs1557591264, rs1557620758, rs1559099927, rs1561788984, rs369459721, rs1563831738, rs1562159088, rs1562159562, rs1562159599, rs1559094754, rs1559328283, rs755634856, rs1561784687, rs1554122296, rs1561789313, rs1562720119, rs1564363665, rs1561697465, rs1561785003, rs1561787845, rs1561789215, rs1554122305, rs1561784553, rs1561784560, rs1561787690, rs1554122888, rs749632782, rs1567139896, rs1569370887, rs1569371303, rs1564493599, rs1561875779, rs1569146542, rs1569146649, rs1275489527, rs1560115921, rs1468772495, rs749969789, rs1560108090, rs1569376809, rs1569355102, rs1560103306, rs1564365418, rs1559855453, rs1562928193, rs1558149913, rs1253072668, rs141976414, rs1558371790, rs1557898800, rs1567758622, rs1567844041, rs1567844114, rs1567920106, rs1567920209, rs138247472, rs1567974030, rs1567995650, rs1283838287, rs1568003569, rs1568006217, rs1568018905, rs1562505675, rs1561783309, rs1555980234, rs1559087186, rs1560966086, rs1560330387, rs769471341, rs1562493608, rs1562505335, rs1554121861, rs1554122200, rs1562957809, rs1568097623, rs1391600900, rs1568234874, rs1568235086, rs1555990955, rs1567870541, rs1557570794, rs1562869207, rs1571818248, rs1431778557, rs369691608, rs1595808957, rs1597665063, rs1597846084, rs1603401125, rs1603350606, rs1601946481, rs1601932069, rs1602880906, rs1602308324, rs1574554519, rs1573882268, rs1603198937, rs1558148010, rs1558498928, rs1569459580, rs1569380375, rs1560062082, rs1557889974, rs1558414255, rs756429763, rs781663444, rs1569016820, rs1569017025, rs1569017160, rs1557612048, rs1568504941, rs1581987022, rs1576983339, rs1599892470, rs1265340906, rs1602284689, rs1574949440, rs1576220938, rs1576280892, rs1576288424, rs1574459612, rs1574511051, rs1575654528, rs1577094794, rs1294683568, rs771819481, rs1580984895, rs1581338441, rs1580988138, rs1581980317, rs1581986872, rs1554121207, rs1581987268, rs1581987476, rs1581987885, rs763770519, rs1581991929, rs1581992099, rs1581992998, rs1581995453, rs1554122242, rs1581996778, rs1581997228, rs1588735247, rs1555980467, rs1555985742, rs1601319086, rs1601970168, rs1574451881, rs876661168, rs1576994053, rs1573589807, rs1581036396, rs1601267617, rs1572531830, rs1573483715, rs1590954686, rs1601315812, rs1573965358, rs1573972562, rs529087882, rs1570609440, rs1598940393, rs1575333081, rs1576028676, rs1596476657, rs1599375711, rs1603290366, rs1603060007, rs1603069440, rs1592939069, rs1591612223, rs2062994512, rs373701249, rs1600471396, rs1600501018, rs1600504088, rs1600514073, rs748436953, rs765723607, rs758170522, rs1561785045, rs1357591960, rs1591609136, rs1596891223, rs1579370234, rs2047850664, rs1579109565, rs1870202051, rs1574887674, rs778229060, rs1572531281, rs1570622663, rs1573501865, rs1576086299, rs1576164991, rs1574907198, rs1576656734, rs1554121438, rs1581995425, rs1581996813, rs1582001015, rs1588324025, rs1591371152, rs1590008294, rs1590956245, rs1590028691, rs1591606580, rs1591611001, rs1591612317, rs1591612370, rs763436882, rs997044541, rs1595897117, rs747706524, rs1579377990, rs1201878175, rs1894051550, rs1572531730, rs1579576029, rs1577017863, rs752545577, rs1582461267, rs1589460606, rs1588727276, rs1598620094, rs1599368323, rs1600082188, rs1601319352, rs1598226304, rs2076013475, rs2076017638, rs1600596180, rs1554121932, rs1680676671, rs1570607996, rs1382444181, rs1570640673, rs1574994308, rs1596667777, rs1602226289, rs1595629181, rs1595609005, rs1227643933, rs1572705473, rs1570621899, rs1722830922, rs1575094649, rs1417035592, rs1581997098, rs1589457762, rs1598211790, rs758726258, rs1601071971, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1580988074, rs1594129609, rs1588732344, rs1579368865, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1791701214, rs752676391, rs1680673822, rs758098717, rs1726676630, rs762288077, rs1759964009, rs1760905766, rs1761021165, rs1554121934, rs2055849544, rs1049773, rs587784300, rs1861628072, rs1761241410, rs1064797322, rs1948652423, rs2059194330, rs1777174302, rs2054280202, rs2081190512, rs772665884, rs1400164869, rs1861593395, rs1760897843, rs1761087122, rs1388355040, rs2068797192, rs1777175608, rs376898131
Renal cyst	Simple renal cyst	rs376586707, rs431905522, rs1057518761, rs1555454411, rs140039128, rs1567413573
Scoliosis	Scoliosis, unspecified	rs1057518828, rs147296805, rs758163506, rs1555613564, rs1596852902, rs1596853067, rs1596853085
Spondylocarpotarsal synostosis syndrome	SPONDYLOCARPOTARSAL SYNOSTOSIS SYNDROME, Spondylocarpotarsal synostosis	rs80356521, rs80356519, rs80356520, rs121908897, rs121908898, rs80356517, rs1555527166, rs1553701033, rs1553703909, rs1567556169, rs1567557697, rs746105983, rs1575457582	26380986, 14991055
Ventricular septal defect	Ventricular Septal Defects	rs104894073, rs387906775

Unknown
Disease term	Disease name	Evidence	References	Source
Pulmonary hypoplasia	Congenital hypoplasia of lung			ClinVar
Boomerang Dysplasia	Boomerang dysplasia			GenCC
Glaucoma	Glaucoma			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA

Associations from Text Mining
Disease Name	Relationship Type	References
Adenocarcinoma of Lung	Associate	37552140
Antisocial Personality Disorder	Associate	25918995
Atelosteogenesis type 1	Associate	24624349, 35832491
Atypical Hemolytic Uremic Syndrome	Associate	21868097
Bare Lymphocyte Syndrome Type I	Associate	12149238
Bone Diseases Metabolic	Associate	24176111
Boomerang dysplasia	Associate	29797497, 35832491
Breast Neoplasms	Associate	32420379
Carcinogenesis	Associate	32323860
Carcinoma Embryonal	Associate	9420627
Carcinoma Hepatocellular	Associate	23717429
Carcinoma Non Small Cell Lung	Associate	32923135
Clubfoot	Associate	34491919
Ehlers Danlos Syndrome Type IV	Associate	37800821
Genetic Diseases Inborn	Associate	33407338
Giant Cell Tumors	Associate	27779699
Glioblastoma	Associate	23543272, 30497369
Glioma	Associate	23543272
Granulosa cell tumor of the ovary	Associate	27779699
Growth Disorders	Associate	33407338
Heart defects limb shortening	Associate	35832491
HEM dysplasia	Associate	24624349, 30916490, 31218223
Hemolytic Uremic Syndrome	Associate	12960213, 18252712, 21868097
Hypoxia	Stimulate	23543272
Joint Dislocations	Associate	30916490
Knee Dislocation	Associate	18322662
Larsen Syndrome	Associate	16648377, 16801345, 18322662, 24755949, 27048506, 28475863, 28639312, 30170566, 30916490, 31836586, 34491919, 35832491
Leukemia Lymphocytic Chronic B Cell	Associate	18223168
Leukemia Myeloid	Associate	19376791
Lung Neoplasms	Associate	7707419
Myotonia with Skeletal Abnormalities and Mental Retardation	Associate	29797497
Neoplasm Metastasis	Associate	32323860, 35688384
Neoplasms	Associate	23340843, 23543272, 27779699, 35247916, 35688384
Osteochondrodysplasias	Associate	29797497
Osteoporosis	Associate	19727905
Pancreatic Neoplasms	Associate	31928012
Paresis	Associate	34491919
Pneumothorax	Associate	37800821
Pre Eclampsia	Associate	30756369
Prostatic Neoplasms	Associate	7707419
Robin sequence and oligodactyly	Associate	29797497
Severe Combined Immunodeficiency	Associate	12149238
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Associate	27048506
Spondylocarpotarsal synostosis	Associate	33407338, 33916386, 35832491
Syndactyly	Associate	29797497
Triple Negative Breast Neoplasms	Associate	35247916
Trophoblastic Neoplasms	Associate	30756369
Uterine Cervical Neoplasms	Associate	32323860
Vitamin D Dependent Rickets Type 2A	Associate	35832491