Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2201
Gene name	Fibrillin 2
Gene symbol	FBN2
Synonyms (NCBI Gene)	CCADA9EOMD
Chromosome	5
Chromosome location	5q23.3
Summary	The protein encoded by this gene is a component of connective tissue microfibrils and may be involved in elastic fiber assembly. Mutations in this gene cause congenital contractural arachnodactyly. [provided by RefSeq, Jul 2008]

Show/Hide all (79)

SNP ID	Visualize variation	Clinical significance	Consequence
rs2307109	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs28763926	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs28931602	A>C	Pathogenic	Coding sequence variant, missense variant
rs34845843	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs35346129	G>A	Conflicting-interpretations-of-pathogenicity, benign, likely-benign	Coding sequence variant, synonymous variant
rs78484531	G>A,C	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, synonymous variant
rs78727187	G>T	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs116413101	T>C	Benign, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs137852825	C>T	Pathogenic	Coding sequence variant, missense variant
rs137852826	C>T	Pathogenic	Coding sequence variant, intron variant, missense variant
rs137852827	C>G	Pathogenic	Coding sequence variant, missense variant
rs137852828	C>A	Pathogenic	Coding sequence variant, missense variant
rs138303817	C>A,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs139686090	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, coding sequence variant
rs140464202	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, missense variant
rs142185964	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs142755118	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Synonymous variant, coding sequence variant, missense variant
rs147102633	G>A	Likely-benign, benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, synonymous variant
rs147157552	G>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs147346327	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs147633551	A>G	Likely-benign, benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs148014419	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Coding sequence variant, missense variant
rs148971572	C>A,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs149054177	A>G	Pathogenic, likely-benign	Coding sequence variant, missense variant
rs149071226	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign, benign	Coding sequence variant, missense variant
rs200060005	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs200440156	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs201255083	G>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant
rs267606802	A>T	Pathogenic	Missense variant, coding sequence variant
rs368802769	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs373970388	G>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs374922166	T>C	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs375666281	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs377002313	C>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs528255772	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs565227443	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs587776518	T>A	Pathogenic	Splice acceptor variant
rs587776519	T>C	Pathogenic	Intron variant
rs730882230	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs774248421	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs774807410	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs779483120	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs794727560	C>T	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs863223547	A>T	Pathogenic	Coding sequence variant, stop gained
rs863223565	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863223566	T>G	Likely-pathogenic	Coding sequence variant, missense variant
rs863223567	C>T	Pathogenic	Coding sequence variant, missense variant
rs863223570	A>G	Pathogenic	Splice donor variant
rs863223572	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs863223574	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs863223580	T>C	Pathogenic	Splice acceptor variant
rs863223593	->TTGCCA	Likely-pathogenic	Coding sequence variant, inframe insertion
rs863223604	C>A	Likely-pathogenic	Splice donor variant
rs869025428	T>A	Likely-pathogenic	Coding sequence variant, missense variant
rs886038942	A>G	Likely-pathogenic	Coding sequence variant, missense variant
rs886039200	T>G	Likely-pathogenic	Splice acceptor variant
rs1057519321	C>A,T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs1057521951	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1060503498	C>T	Likely-pathogenic	Splice donor variant
rs1060503510	A>G	Pathogenic	Missense variant, coding sequence variant
rs1060503511	G>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1085307066	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1206843725	C>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1554075372	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554122550	C>G,T	Uncertain-significance, pathogenic	Intron variant
rs1554122802	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554122857	A>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs1554122858	T>-	Likely-pathogenic	Splice acceptor variant
rs1554122896	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1554122897	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554123064	A>C	Likely-pathogenic	Coding sequence variant, missense variant
rs1554123136	C>T	Likely-pathogenic	Splice donor variant
rs1554123139	TTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion
rs1561461125	T>C	Pathogenic	Splice acceptor variant
rs1561758622	C>T	Pathogenic	Intron variant
rs1581222106	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1581222180	T>G	Likely-pathogenic	Splice acceptor variant
rs1581223990	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1581230766	C>G	Likely-pathogenic	Missense variant, coding sequence variant

117

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miRTarBase ID	miRNA	Experiments	Reference
MIRT004012	hsa-miR-101-3p	Western blot	19008416
MIRT004012	hsa-miR-101-3p	Western blot	19008416
MIRT017958	hsa-miR-335-5p	Microarray	18185580
MIRT021389	hsa-miR-9-5p	Microarray	17612493
MIRT047815	hsa-miR-30d-5p	CLASH	23622248
MIRT045540	hsa-miR-149-5p	CLASH	23622248
MIRT040660	hsa-miR-92b-3p	CLASH	23622248
MIRT040044	hsa-miR-615-3p	CLASH	23622248
MIRT037707	hsa-miR-744-5p	CLASH	23622248
MIRT623971	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT623970	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT623969	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT623968	hsa-miR-23c	HITS-CLIP	23824327
MIRT623967	hsa-miR-3148	HITS-CLIP	23824327
MIRT623966	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623965	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT623971	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT623970	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT623969	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT623968	hsa-miR-23c	HITS-CLIP	23824327
MIRT623967	hsa-miR-3148	HITS-CLIP	23824327
MIRT623966	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623965	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT440669	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT440669	hsa-miR-218-5p	HITS-CLIP	23212916
MIRT623971	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT623970	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT623969	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT623968	hsa-miR-23c	HITS-CLIP	23824327
MIRT623967	hsa-miR-3148	HITS-CLIP	23824327
MIRT623966	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623965	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT623971	hsa-miR-23a-3p	HITS-CLIP	23824327
MIRT623970	hsa-miR-23b-3p	HITS-CLIP	23824327
MIRT623969	hsa-miR-130a-5p	HITS-CLIP	23824327
MIRT623968	hsa-miR-23c	HITS-CLIP	23824327
MIRT623967	hsa-miR-3148	HITS-CLIP	23824327
MIRT623966	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT623965	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT990122	hsa-miR-1207-3p	CLIP-seq
MIRT990123	hsa-miR-1253	CLIP-seq
MIRT990124	hsa-miR-1255a	CLIP-seq
MIRT990125	hsa-miR-1255b	CLIP-seq
MIRT990126	hsa-miR-1287	CLIP-seq
MIRT990127	hsa-miR-154	CLIP-seq
MIRT990128	hsa-miR-4712-3p	CLIP-seq
MIRT990129	hsa-miR-502-5p	CLIP-seq
MIRT990130	hsa-miR-548aa	CLIP-seq
MIRT990131	hsa-miR-584	CLIP-seq
MIRT1920420	hsa-miR-1206	CLIP-seq
MIRT1920421	hsa-miR-136	CLIP-seq
MIRT1920422	hsa-miR-375	CLIP-seq
MIRT1920423	hsa-miR-376c	CLIP-seq
MIRT1920424	hsa-miR-515-5p	CLIP-seq
MIRT1920425	hsa-miR-579	CLIP-seq
MIRT1920420	hsa-miR-1206	CLIP-seq
MIRT1920421	hsa-miR-136	CLIP-seq
MIRT1920422	hsa-miR-375	CLIP-seq
MIRT1920423	hsa-miR-376c	CLIP-seq
MIRT1920424	hsa-miR-515-5p	CLIP-seq
MIRT1920425	hsa-miR-579	CLIP-seq
MIRT2227301	hsa-miR-181a	CLIP-seq
MIRT2227302	hsa-miR-181b	CLIP-seq
MIRT2227303	hsa-miR-181c	CLIP-seq
MIRT2227304	hsa-miR-181d	CLIP-seq
MIRT2227305	hsa-miR-3973	CLIP-seq
MIRT2227306	hsa-miR-4262	CLIP-seq
MIRT2227307	hsa-miR-505	CLIP-seq
MIRT2227308	hsa-miR-520g	CLIP-seq
MIRT2227309	hsa-miR-520h	CLIP-seq
MIRT2227310	hsa-miR-543	CLIP-seq
MIRT2428805	hsa-miR-101	CLIP-seq
MIRT2428806	hsa-miR-1252	CLIP-seq
MIRT990123	hsa-miR-1253	CLIP-seq
MIRT2428807	hsa-miR-139-5p	CLIP-seq
MIRT2428808	hsa-miR-144	CLIP-seq
MIRT990127	hsa-miR-154	CLIP-seq
MIRT2428809	hsa-miR-1827	CLIP-seq
MIRT2428810	hsa-miR-3132	CLIP-seq
MIRT2428811	hsa-miR-3160-3p	CLIP-seq
MIRT2428812	hsa-miR-3163	CLIP-seq
MIRT2428813	hsa-miR-338-5p	CLIP-seq
MIRT2428814	hsa-miR-3646	CLIP-seq
MIRT2428815	hsa-miR-3647-3p	CLIP-seq
MIRT2428816	hsa-miR-3662	CLIP-seq
MIRT2428817	hsa-miR-3940-5p	CLIP-seq
MIRT2428818	hsa-miR-4261	CLIP-seq
MIRT2428819	hsa-miR-4265	CLIP-seq
MIRT2428820	hsa-miR-4289	CLIP-seq
MIRT2428821	hsa-miR-4296	CLIP-seq
MIRT2428822	hsa-miR-4322	CLIP-seq
MIRT2428823	hsa-miR-4422	CLIP-seq
MIRT2428824	hsa-miR-4464	CLIP-seq
MIRT2428825	hsa-miR-4487	CLIP-seq
MIRT2428826	hsa-miR-4496	CLIP-seq
MIRT2428827	hsa-miR-4506	CLIP-seq
MIRT2428828	hsa-miR-4507	CLIP-seq
MIRT990128	hsa-miR-4712-3p	CLIP-seq
MIRT2428829	hsa-miR-4719	CLIP-seq
MIRT2428830	hsa-miR-4731-3p	CLIP-seq
MIRT2428831	hsa-miR-4748	CLIP-seq
MIRT2428832	hsa-miR-4760-3p	CLIP-seq
MIRT2428833	hsa-miR-4793-5p	CLIP-seq
MIRT2428834	hsa-miR-4799-5p	CLIP-seq
MIRT2428835	hsa-miR-4801	CLIP-seq
MIRT2428836	hsa-miR-485-3p	CLIP-seq
MIRT990129	hsa-miR-502-5p	CLIP-seq
MIRT2428837	hsa-miR-556-5p	CLIP-seq
MIRT2428838	hsa-miR-558	CLIP-seq
MIRT2428839	hsa-miR-568	CLIP-seq
MIRT2428840	hsa-miR-580	CLIP-seq
MIRT990131	hsa-miR-584	CLIP-seq
MIRT2428841	hsa-miR-606	CLIP-seq
MIRT2428842	hsa-miR-629	CLIP-seq
MIRT2428843	hsa-miR-635	CLIP-seq
MIRT2428844	hsa-miR-664	CLIP-seq
MIRT2428845	hsa-miR-665	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001527	Component	Microfibril	IDA	8120105
GO:0001527	Component	Microfibril	IEA
GO:0001527	Component	Microfibril	TAS	20855508
GO:0001890	Process	Placenta development	IDA	32329225
GO:0005179	Function	Hormone activity	IBA
GO:0005179	Function	Hormone activity	IDA	32329225
GO:0005179	Function	Hormone activity	IEA
GO:0005201	Function	Extracellular matrix structural constituent	IBA
GO:0005201	Function	Extracellular matrix structural constituent	RCA	28327460, 28675934
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	12429738, 15131124, 18339631, 25034023, 26601954
GO:0005576	Component	Extracellular region	IBA
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	32329225
GO:0006006	Process	Glucose metabolic process	IBA
GO:0007165	Process	Signal transduction	IEA
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	IC	8120105
GO:0030023	Function	Extracellular matrix constituent conferring elasticity	IEA
GO:0030326	Process	Embryonic limb morphogenesis	IEA
GO:0030501	Process	Positive regulation of bone mineralization	IEA
GO:0030501	Process	Positive regulation of bone mineralization	ISS
GO:0031012	Component	Extracellular matrix	HDA	23658023, 28327460, 28675934
GO:0031012	Component	Extracellular matrix	IBA
GO:0035108	Process	Limb morphogenesis	IEA
GO:0035583	Process	Sequestering of TGFbeta in extracellular matrix	IEA
GO:0035583	Process	Sequestering of TGFbeta in extracellular matrix	ISS
GO:0042593	Process	Glucose homeostasis	IBA
GO:0042593	Process	Glucose homeostasis	ISS
GO:0043010	Process	Camera-type eye development	IEA
GO:0043010	Process	Camera-type eye development	IEP	25406291
GO:0045669	Process	Positive regulation of osteoblast differentiation	IEA
GO:0045669	Process	Positive regulation of osteoblast differentiation	ISS
GO:0048048	Process	Embryonic eye morphogenesis	IEA
GO:0048048	Process	Embryonic eye morphogenesis	IEP	25406291
GO:0060346	Process	Bone trabecula formation	IEA
GO:0060346	Process	Bone trabecula formation	ISS
GO:1901163	Process	Regulation of trophoblast cell migration	IDA	32329225

MIM	HGNC	e!Ensembl
612570	3604	ENSG00000138829

P35556

Protein name

Fibrillin-2 [Cleaved into: Placensin]

Protein function

[Fibrillin-2]: Fibrillins are structural components of 10-12 nm extracellular calcium-binding microfibrils, which occur either in association with elastin or in elastin-free bundles. Fibrillin-2-containing microfibrils regulate the early process

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF18193	Fibrillin_U_N	76 → 112	Fibrillin 1 unique N-terminal domain	Domain
PF00683	TB	224 → 265	TB domain	Family
PF07645	EGF_CA	276 → 316	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	318 → 358	Calcium-binding EGF domain	Domain
PF00683	TB	374 → 420	TB domain	Family
PF12661	hEGF	505 → 525	Human growth factor-like EGF	Domain
PF07645	EGF_CA	535 → 573	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	575 → 615	Calcium-binding EGF domain	Domain
PF12662	cEGF	638 → 661	Complement Clr-like EGF-like	Domain
PF00683	TB	714 → 759	TB domain	Family
PF07645	EGF_CA	768 → 808	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	810 → 850	Calcium-binding EGF domain	Domain
PF00683	TB	906 → 943	TB domain	Family
PF07645	EGF_CA	955 → 995	Calcium-binding EGF domain	Domain
PF00683	TB	1011 → 1055	TB domain	Family
PF07645	EGF_CA	1073 → 1113	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1115 → 1156	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1158 → 1198	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1200 → 1240	Calcium-binding EGF domain	Domain
PF12662	cEGF	1263 → 1286	Complement Clr-like EGF-like	Domain
PF07645	EGF_CA	1325 → 1365	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1367 → 1406	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1408 → 1447	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1449 → 1489	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1491 → 1530	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1532 → 1572	Calcium-binding EGF domain	Domain
PF00683	TB	1592 → 1636	TB domain	Family
PF07645	EGF_CA	1650 → 1690	Calcium-binding EGF domain	Domain
PF00683	TB	1748 → 1794	TB domain	Family
PF07645	EGF_CA	1808 → 1848	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1850 → 1890	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1892 → 1932	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1934 → 1971	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	1973 → 2014	Calcium-binding EGF domain	Domain
PF12662	cEGF	1996 → 2019	Complement Clr-like EGF-like	Domain
PF07645	EGF_CA	2056 → 2096	Calcium-binding EGF domain	Domain
PF00683	TB	2112 → 2158	TB domain	Family
PF07645	EGF_CA	2171 → 2211	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	2213 → 2251	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	2253 → 2292	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	2294 → 2336	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	2338 → 2378	Calcium-binding EGF domain	Domain
PF00683	TB	2395 → 2440	TB domain	Family
PF07645	EGF_CA	2449 → 2489	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	2491 → 2530	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	2532 → 2569	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	2571 → 2612	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	2614 → 2652	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	2654 → 2693	Calcium-binding EGF domain	Domain
PF07645	EGF_CA	2695 → 2733	Calcium-binding EGF domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Almost exclusively expressed in placenta (PubMed:32329225). Expressed at much lower level in other tissues (PubMed:32329225). Expressed in fetal eye (18 weeks)in the retinal pigment epithelium (RPE), the choroid, Bruch's membrane and i

Sequence

MGRRRRLCLQLYFLWLGCVVLWAQGTAGQPQPPPPKPPRPQPPPQQVRSATAGSEGGFLA
PEYREEGAAVASRVRRRGQQDVLRGPNVCGSRFHSYCCPGWKTLPGGNQCIVPICRNSCG
DGFCSRPNMCTCSSGQISSTCGSKSIQQCSVRCMNGGTCADDHCQCQKGYIGTYCGQPVC
ENGCQNGGRCIGPNRCACVYGFTGPQCERDYRTGPCFTQVNNQMCQGQLTGIVCTKTLCC
ATIGRAWGHPCEMCPAQPQPCRRGFIPNIRTGACQDVDECQAIPGICQGGNCINTVGSFE
CRCPAGHKQSETTQKCEDIDECSIIPGICETGECSNTVGSYFCVCPRGYVTSTDGSRCID
QRTGMCFSGLVNGRCAQELPGRMTKMQCCCEPGRCWGIGTIPEACPVRGSEEYRRLCMDG
LPMGGIPGSAGSRPGGTGGNGFAPSGNGNGYGPGGTGFIPIPGGNGFSPGVGGAGVGAGG
QGPIITGLTILNQTIDICKHHANLCLNGRCIPTVSSYRCECNMGYKQDANGDCIDVDECT
SNPCTNGDCVNTPGSYYCKCHAGFQRTPTKQACIDIDECIQNGVLCKNGRCVNTDGSFQC
ICNAGFELTTDGKNCVDHDECTTTNMCLNGMCINEDGSFKCICKPGFVLAPNGRYCTDVD
ECQTPGICMNGHCINSEGSFRCDCPPGLAVGMDGRVCVDTHMRSTCYGGIKKGVCVRPFP
GAVTKSECCCANPDYGFGEPCQPCPAKNSAEFHGLCSSGVGITVDGRDINECALDPDICA
NGICENLRGSYRCNCNSGYEPDASGRNCIDIDECLVNRLLCDNGLCRNTPGSYSCTCPPG
YVFRTETETCEDINECESNPCVNGACRNNLGSFNCECSPGSKLSSTGLICIDSLKGTCWL
NIQDSRCEVNINGATLKSECCATLGAAWGSPCERCELDTACPRGLARIKGVTCEDVNECE
VFPGVCPNGRCVNSKGSFHCECPEGLTLDGTGRVCLDIRMEQCYLKWDEDECIHPVPGKF
RMDACCCAVGAAWGTECEECPKPGTKEYETLCPRGAGFANRGDVLTGRPFYKDINECKAF
PGMCTYGKCRNTIGSFKCRCNSGFALDMEERNCTDIDECRISPDLCGSGICVNTPGSFEC
ECFEGYESGFMMMKNCMDIDECERNPLLCRGGTCVNTEGSFQCDCPLGHELSPSREDCVD
INECSLSDNLCRNGKCVNMIGTYQCSCNPGYQATPDRQGCTDIDECMIMNGGCDTQCTNS
EGSYECSCSEGYALMPDGRSCADIDECENNPDICDGGQCTNIPGEYRCLCYDGFMASMDM
KTCIDVNECDLNSNICMFGECENTKGSFICHCQLGYSVKKGTTGCTDVDECEIGAHNCDM
HASCLNIPGSFKCSCREGWIGNGIKCIDLDECSNGTHQCSINAQCVNTPGSYRCACSEGF
TGDGFTCSDVDECAENINLCENGQCLNVPGAYRCECEMGFTPASDSRSCQDIDECSFQNI
CVFGTCNNLPGMFHCICDDGYELDRTGGNCTDIDECADPINCVNGLCVNTPGRYECNCPP
DFQLNPTGVGCVDNRVGNCYLKFGPRGDGSLSCNTEIGVGVSRSSCCCSLGKAWGNPCET
CPPVNSTEYYTLCPGGEGFRPNPITIILEDIDECQELPGLCQGGNCINTFGSFQCECPQG
YYLSEDTRICEDIDECFAHPGVCGPGTCYNTLGNYTCICPPEYMQVNGGHNCMDMRKSFC
YRSYNGTTCENELPFNVTKRMCCCTYNVGKAWNKPCEPCPTPGTADFKTICGNIPGFTFD
IHTGKAVDIDECKEIPGICANGVCINQIGSFRCECPTGFSYNDLLLVCEDIDECSNGDNL
CQRNADCINSPGSYRCECAAGFKLSPNGACVDRNECLEIPNVCSHGLCVDLQGSYQCICH
NGFKASQDQTMCMDVDECERHPCGNGTCKNTVGSYNCLCYPGFELTHNNDCLDIDECSSF
FGQVCRNGRCFNEIGSFKCLCNEGYELTPDGKNCIDTNECVALPGSCSPGTCQNLEGSFR
CICPPGYEVKSENCIDINECDEDPNICLFGSCTNTPGGFQCLCPPGFVLSDNGRRCFDTR
QSFCFTNFENGKCSVPKAFNTTKAKCCCSKMPGEGWGDPCELCPKDDEVAFQDLCPYGHG
TVPSLHDTREDVNECLESPGICSNGQCINTDGSFRCECPMGYNLDYTGVRCVDTDECSIG
NPCGNGTCTNVIGSFECNCNEGFEPGPMMNCEDINECAQNPLLCAFRCMNTFGSYECTCP
IGYALREDQKMCKDLDECAEGLHDCESRGMMCKNLIGTFMCICPPGMARRPDGEGCVDEN
ECRTKPGICENGRCVNIIGSYRCECNEGFQSSSSGTECLDNRQGLCFAEVLQTICQMASS
SRNLVTKSECCCDGGRGWGHQCELCPLPGTAQYKKICPHGPGYTTDGRDIDECKVMPNLC
TNGQCINTMGSFRCFCKVGYTTDISGTSCIDLDECSQSPKPCNYICKNTEGSYQCSCPRG
YVLQEDGKTCKDLDECQTKQHNCQFLCVNTLGGFTCKCPPGFTQHHTACIDNNECGSQPS
LCGAKGICQNTPGSFSCECQRGFSLDATGLNCEDVDECDGNHRCQHGCQNILGGYRCGCP
QGYIQHYQWNQCVDENECSNPNACGSASCYNTLGSYKCACPSGFSFDQFSSACHDVNECS
SSKNPCNYGCSNTEGGYLCGCPPGYYRVGQGHCVSGMGFNKGQYLSLDTEVDEENALSPE
ACYECKINGYSKKDSRQKRSIHEPDPTAVEQISLESVDMDSPVNMKFNLSHLGSKEHILE
LRPAIQPLNNHIRYVISQGNDDSVFRIHQRNGLSYLHTAKKKLMPGTYTLEITSIPLYKK
KELKKLEESNEDDYLLGELGEALRMRLQIQLY

Sequence length

2912

Interactions

View interactions

	KEGG		Reactome
	Cytoskeleton in muscle cells		Degradation of the extracellular matrix Elastic fibre formation Molecules associated with elastic fibres

4120

Show/Hide Causal Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Cerebral ischemia	Likely pathogenic	rs730882230	RCV000162150
Congenital contractural arachnodactyly	Likely pathogenic; Pathogenic	rs1750918319, rs2126833724, rs147046215, rs2126912100, rs2126903614, rs2126854512, rs1554122857, rs886038935, rs1581226080, rs2126888942, rs137852825, rs137852826, rs587776518, rs587776519, rs2126895611 View all (53 more)	RCV001332073 RCV001378653 RCV001808146 RCV001984410 RCV001941718 RCV001914445 RCV001975155 RCV002011348 RCV002050144 RCV002031915 RCV000000548 RCV000000549 RCV000000551 RCV000000552 RCV000000553 RCV000000554 RCV000000555 RCV000000556 RCV002208744 RCV002287303 RCV002289363 RCV002290067 RCV005058366 RCV002470352 RCV003060010 RCV003037119 RCV002595063 RCV002608853 RCV002881487 RCV003010473 RCV000208190 RCV000490469 RCV003234951 RCV003334333 RCV003525570 RCV003525557 RCV003525797 RCV003527201 RCV003527574 RCV003526385 RCV003526602 RCV003526643 RCV003641750 RCV003640438 RCV003640743 RCV003989445 RCV000000557 RCV004555220 RCV000475898 RCV000468381 RCV000459072 RCV000515790 RCV002525118 RCV000556027 RCV000537065 RCV000576844 RCV001220794 RCV000633606 RCV000659615 RCV000659613 RCV000679985 RCV000703551 RCV000793416 RCV000807549 RCV001047518 RCV001065940 RCV001215872 RCV001219040 RCV001215923 RCV001204497 RCV001230303 RCV001256186 RCV003128085 RCV001270844 RCV001299697 RCV001300210
Ehlers-Danlos syndrome	Likely pathogenic	rs2126960067	RCV002278028
Familial thoracic aortic aneurysm and aortic dissection	Likely pathogenic; Pathogenic	rs1554122857, rs2479803228, rs863223570, rs2126888942, rs587776518, rs2479786545, rs1554122896, rs1554123064, rs1750917259	RCV004044394 RCV002349120 RCV002349121 RCV002332198 RCV002332222 RCV005844257 RCV002314952 RCV002313315 RCV002313340 RCV004017813
FBN2-related disorder	Likely pathogenic	rs1554123136	RCV003409774
Fetal akinesia deformation sequence 1	Likely pathogenic	rs730882230	RCV000162150
Macular degeneration, early-onset	Likely pathogenic; Pathogenic	rs1750918931, rs1750790929, rs1750891403	RCV002208744 RCV001196076 RCV001196838
Marfanoid habitus and intellectual disability	Likely pathogenic	rs1581222106	RCV000850439
Neonatal death	Likely pathogenic	rs730882230	RCV000162150

Show/Hide Unknown Diseases (33)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs17676891, rs10055617, rs28763943, rs28763937	RCV005922050 RCV005920551 RCV005888078 RCV005904010
Adrenocortical carcinoma, hereditary	Benign	rs32209	RCV005888080
Aortic aneurysm, familial thoracic 2	Uncertain significance	rs1554063781	RCV000582373
Arterial dissection	Uncertain significance	rs755510043	RCV000208007
Brain aneurysm	Benign; Likely benign	rs145259927	RCV000584284
Cardiovascular phenotype	Conflicting classifications of pathogenicity; Uncertain significance; Likely benign	rs143195229, rs886038818, rs772928933, rs886038784, rs763870762, rs886038893, rs886038891, rs886038814, rs886038773, rs755917639, rs139668142, rs759481427, rs886038935, rs532983875, rs563228953, rs565550310 View all (1 more)	RCV000249340 RCV000249139 RCV000251288 RCV000248909 RCV000252393 RCV000253886 RCV000248056 RCV000248478 RCV000245440 RCV000247421 RCV000244909 RCV000244735 RCV000248987 RCV000247075 RCV000250847 RCV000248004
Cervical cancer	Likely benign; Benign	rs10428643, rs10055617, rs72785104	RCV005917817 RCV005920554 RCV005906871
Cholangiocarcinoma	Benign	rs72785104	RCV005906874
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs200608284	RCV005890828
Colorectal cancer	Benign	rs32209	RCV005888082
Congenital heart disease	Conflicting classifications of pathogenicity	rs376507178	RCV005625508
Connective tissue disorder	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	rs185052980, rs28763952, rs154001, rs28763946, rs28763943, rs56025995, rs17608368, rs76756898, rs201818403, rs28763954, rs199937209, rs139686090, rs28763949, rs28763945, rs2279582 View all (73 more)	RCV002276744 RCV002277160 RCV002277163 RCV002277165 RCV002277167 RCV002277170 RCV002277172 RCV002277175 RCV000659595 RCV000659596 RCV000659599 RCV000659604 RCV000659605 RCV002277252 RCV000659616 RCV002277254 RCV000659592 RCV002277256 RCV000659621 RCV000680526 RCV000659625 RCV000659627 RCV002277263 RCV000659632 RCV000680524 RCV002277269 RCV000659594 RCV000680532 RCV000680533 RCV002277024 RCV000659593 RCV002278026 RCV002278030 RCV002278035 RCV002278724 RCV002278725 RCV002278726 RCV002278727 RCV002278728 RCV002278729 RCV000680529 RCV002277456 RCV000659630 RCV000659617 RCV000659597 RCV002277532 RCV002277531 RCV002277514 RCV002277530 RCV002277537 RCV000680525 RCV002277528 RCV000659620 RCV002277526 RCV000680528 RCV002277534 RCV000659611 RCV000659610 RCV002277523 RCV000659609 RCV000659608 RCV000659602 RCV000659598 RCV002277538 RCV002278172 RCV000659601 RCV002278244 RCV002278245 RCV000659607 RCV000659629 RCV000659619 RCV000659626 RCV000659606 RCV000659631 RCV000659628 RCV000659624 RCV000659623 RCV000659622 RCV000659614 RCV000659603 RCV000659600 RCV000659591 RCV000680527 RCV000680530 RCV000680531 RCV002279490 RCV002279579 RCV002276598 RCV002277145
Craniosynostosis syndrome	Conflicting classifications of pathogenicity	rs201220519	RCV000581293
Ehlers-Danlos syndrome, type 4	Uncertain significance	rs869025430	RCV000208462
Gastric cancer	Benign; Likely benign	rs17676891, rs143255082, rs28763937	RCV005922051 RCV005890826 RCV005904012
Hepatocellular carcinoma	Benign	rs10055617	RCV005920552
High myopia	Conflicting classifications of pathogenicity	rs773505261	RCV000785671
Loeys-Dietz syndrome	Benign; Likely benign; Uncertain significance	rs146849637, rs1554063781	RCV000583514 RCV000583636
Malignant tumor of esophagus	Benign; Likely benign; Conflicting classifications of pathogenicity	rs143255082, rs28763933, rs762567430, rs72785104, rs28763937	RCV005890824 RCV005893429 RCV005897909 RCV005906870 RCV005904011
Marfan syndrome	Uncertain significance; Conflicting classifications of pathogenicity	rs869025429, rs369568420, rs1581223990, rs1057519321	RCV000208384 RCV005860053 RCV003447703 RCV000416376
Neurodevelopmental abnormality	Conflicting classifications of pathogenicity; Likely benign	rs995323393, rs1750805468	RCV001264672 RCV001264655
Nonpapillary renal cell carcinoma	Benign	rs10055617	RCV005920553
Nonsyndromic Heritable Thoracic Aortic Aneurysms And Dissections	Conflicting classifications of pathogenicity	rs375487064	RCV005237693
Ovarian serous cystadenocarcinoma	Benign; Conflicting classifications of pathogenicity	rs10055617, rs776040052, rs72785104, rs28763937	RCV005920556 RCV005901174 RCV005906872 RCV005904013
Primary dilated cardiomyopathy	Conflicting classifications of pathogenicity	rs778473524	RCV003319186
Prostate cancer	Uncertain significance	rs193920763	RCV000149125
Sarcoma	Benign; Likely benign	rs10055617, rs28763943, rs201818403, rs143255082, rs200300875	RCV005920555 RCV005888079 RCV005890822 RCV005890825 RCV005890827
See cases	Uncertain significance; Conflicting classifications of pathogenicity	rs2126958797, rs201962592	RCV002252585 RCV002252049
Thymoma	Benign	rs17676891, rs32209, rs72785104, rs28763937	RCV005922052 RCV005888084 RCV005906873 RCV005904015
Thyroid cancer, nonmedullary, 1	Conflicting classifications of pathogenicity	rs763844538, rs182651973	RCV005930240 RCV005893430
Uterine carcinosarcoma	Benign	rs32209, rs28763937	RCV005888083 RCV005904014
Uterine corpus endometrial carcinoma	Likely benign; Benign; Conflicting classifications of pathogenicity	rs79657892, rs201818403, rs201962592, rs72785104	RCV005916137 RCV005890823 RCV005893431 RCV005906875
Uveal melanoma	Benign	rs32209	RCV005888081

Show/Hide Text Mining Associations (55)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Abortion Spontaneous	Associate	34756330
Adenocarcinoma of Lung	Associate	34951053
Adenoma	Associate	22238052
Alzheimer Disease	Associate	33083483
Aortic Aneurysm Thoracic	Associate	40436996
Aortic Dissection	Associate	31426022, 33083483
Arthrogryposis	Associate	34356068
Bicuspid Aortic Valve Disease	Stimulate	27634926
Bicuspid Aortic Valve Disease	Associate	39226896
Carcinoma Renal Cell	Associate	24454902, 34058014, 34689221
Carcinoma Squamous Cell	Associate	34504628
Cardiomyopathy Dilated	Associate	25986263
Cardiomyopathy Dilated	Stimulate	27634926
Cardiovascular Diseases	Associate	17106180
Cerebral Hemorrhage	Associate	37875357
Channelopathies	Associate	39226896
Cholangiocarcinoma	Associate	29408647
Colorectal Neoplasms	Associate	22238052, 35991839, 37214090
Congenital Abnormalities	Associate	36849876
Congenital contractural arachnodactyly	Associate	12383326, 12399449, 17106180, 18767143, 22325249, 24585410, 27196565, 28379158, 31316167, 31426022, 31506931, 33638605, 35804365, 40436996, 8900230, 9106527, 9199560 View all (2 more)
Connective Tissue Diseases	Associate	30675029, 31426022
Corneal Dystrophies Hereditary	Associate	22876117
Coronary Disease	Associate	36032780
Developmental Disabilities	Associate	27317422, 36849876
Familial Exudative Vitreoretinopathies	Associate	40011896
Fetal Diseases	Associate	37875969
Genetic Diseases Inborn	Associate	12399449, 37579195
Glaucoma	Associate	19401404
Heart Defects Congenital	Associate	39226896
Hemorrhage	Associate	36453946
Hereditary Autoinflammatory Diseases	Associate	27317422
Joint Dislocations	Associate	18767143
Keloid	Associate	27943413
Lattice corneal dystrophy type 1	Associate	22876117
Macular Degeneration	Inhibit	24899048
Macular Degeneration	Associate	24899048
Marfan Syndrome	Associate	17106180, 25986263, 31506931, 37337404
Muscular Diseases	Associate	28383543
Musculoskeletal Abnormalities	Associate	35804365, 37579195
Neoplasm Metastasis	Associate	29408647, 31239274
Neoplasms	Inhibit	22238052
Neoplasms	Associate	24454902, 31239274, 33121461, 34212534, 34951053
Obesity	Stimulate	34058014
Osteoarthritis	Associate	37579195
Osteogenesis Imperfecta	Associate	35804365
Plaque Amyloid	Associate	22876117
Polycystic Ovary Syndrome	Associate	19692420
Renal Failure Progressive with Hypertension	Stimulate	29366750
Renal Insufficiency	Associate	36032780
Sarcoma	Stimulate	32084007
Scoliosis	Associate	24833718, 34356068
Squamous Cell Carcinoma of Head and Neck	Associate	34693597
Stomatitis	Associate	25218607
Stroke	Associate	36958462
Urinary Bladder Neoplasms	Stimulate	37337404

FBN2 (fibrillin 2)