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	6603
Gene name	SWI/SNF related BAF chromatin remodeling complex subunit D2
Gene symbol	SMARCD2
Synonyms (NCBI Gene)	BAF60BCRACD2PRO2451Rsc6pSGD2
Chromosome	17
Chromosome location	17q23.3
Summary	The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. T

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SNP ID	Visualize variation	Clinical significance	Consequence
rs112986541	C>G,T	Likely-pathogenic	Splice acceptor variant
rs1057518731	C>T	Pathogenic	Splice donor variant
rs1057518733	A>G	Pathogenic	Splice donor variant
rs1555580263	->AGGTAGAACCTTATCTGCCATCTTC	Pathogenic	Stop gained, coding sequence variant, inframe indel

292

Show/Hide all (292)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004999	hsa-miR-125b-5p	Microarray	17891175
MIRT020668	hsa-miR-155-5p	Proteomics	18668040
MIRT049267	hsa-miR-92a-3p	CLASH	23622248
MIRT049267	hsa-miR-92a-3p	CLASH	23622248
MIRT043231	hsa-miR-324-5p	CLASH	23622248
MIRT042546	hsa-miR-423-3p	CLASH	23622248
MIRT1371943	hsa-miR-125a-5p	CLIP-seq
MIRT1371944	hsa-miR-125b	CLIP-seq
MIRT1371945	hsa-miR-1285	CLIP-seq
MIRT1371946	hsa-miR-1293	CLIP-seq
MIRT1371947	hsa-miR-130a	CLIP-seq
MIRT1371948	hsa-miR-130b	CLIP-seq
MIRT1371949	hsa-miR-150	CLIP-seq
MIRT1371950	hsa-miR-1587	CLIP-seq
MIRT1371951	hsa-miR-185	CLIP-seq
MIRT1371952	hsa-miR-187	CLIP-seq
MIRT1371953	hsa-miR-188-3p	CLIP-seq
MIRT1371954	hsa-miR-1912	CLIP-seq
MIRT1371955	hsa-miR-1915	CLIP-seq
MIRT1371956	hsa-miR-19a	CLIP-seq
MIRT1371957	hsa-miR-19b	CLIP-seq
MIRT1371958	hsa-miR-2110	CLIP-seq
MIRT1371959	hsa-miR-299-5p	CLIP-seq
MIRT1371960	hsa-miR-301a	CLIP-seq
MIRT1371961	hsa-miR-301b	CLIP-seq
MIRT1371962	hsa-miR-30a	CLIP-seq
MIRT1371963	hsa-miR-30b	CLIP-seq
MIRT1371964	hsa-miR-30c	CLIP-seq
MIRT1371965	hsa-miR-30d	CLIP-seq
MIRT1371966	hsa-miR-30e	CLIP-seq
MIRT1371967	hsa-miR-3133	CLIP-seq
MIRT1371968	hsa-miR-3135b	CLIP-seq
MIRT1371969	hsa-miR-3144-5p	CLIP-seq
MIRT1371970	hsa-miR-3148	CLIP-seq
MIRT1371971	hsa-miR-3150a-3p	CLIP-seq
MIRT1371972	hsa-miR-3155	CLIP-seq
MIRT1371973	hsa-miR-3155b	CLIP-seq
MIRT1371974	hsa-miR-3166	CLIP-seq
MIRT1371975	hsa-miR-3173-3p	CLIP-seq
MIRT1371976	hsa-miR-3187-5p	CLIP-seq
MIRT1371977	hsa-miR-3191	CLIP-seq
MIRT1371978	hsa-miR-320a	CLIP-seq
MIRT1371979	hsa-miR-320b	CLIP-seq
MIRT1371980	hsa-miR-320c	CLIP-seq
MIRT1371981	hsa-miR-320d	CLIP-seq
MIRT1371982	hsa-miR-320e	CLIP-seq
MIRT1371983	hsa-miR-323-5p	CLIP-seq
MIRT1371984	hsa-miR-346	CLIP-seq
MIRT1371985	hsa-miR-3607-3p	CLIP-seq
MIRT1371986	hsa-miR-3612	CLIP-seq
MIRT1371987	hsa-miR-3613-3p	CLIP-seq
MIRT1371988	hsa-miR-3666	CLIP-seq
MIRT1371989	hsa-miR-3686	CLIP-seq
MIRT1371990	hsa-miR-376c	CLIP-seq
MIRT1371991	hsa-miR-378g	CLIP-seq
MIRT1371992	hsa-miR-4256	CLIP-seq
MIRT1371993	hsa-miR-4260	CLIP-seq
MIRT1371994	hsa-miR-4288	CLIP-seq
MIRT1371995	hsa-miR-4294	CLIP-seq
MIRT1371996	hsa-miR-4295	CLIP-seq
MIRT1371997	hsa-miR-4306	CLIP-seq
MIRT1371998	hsa-miR-4319	CLIP-seq
MIRT1371999	hsa-miR-4429	CLIP-seq
MIRT1372000	hsa-miR-4432	CLIP-seq
MIRT1372001	hsa-miR-4438	CLIP-seq
MIRT1372002	hsa-miR-4470	CLIP-seq
MIRT1372003	hsa-miR-4476	CLIP-seq
MIRT1372004	hsa-miR-4483	CLIP-seq
MIRT1372005	hsa-miR-4486	CLIP-seq
MIRT1372006	hsa-miR-4492	CLIP-seq
MIRT1372007	hsa-miR-4498	CLIP-seq
MIRT1372008	hsa-miR-4505	CLIP-seq
MIRT1372009	hsa-miR-4511	CLIP-seq
MIRT1372010	hsa-miR-4530	CLIP-seq
MIRT1372011	hsa-miR-454	CLIP-seq
MIRT1372012	hsa-miR-4644	CLIP-seq
MIRT1372013	hsa-miR-4652-5p	CLIP-seq
MIRT1372014	hsa-miR-4656	CLIP-seq
MIRT1372015	hsa-miR-4671-3p	CLIP-seq
MIRT1372016	hsa-miR-4675	CLIP-seq
MIRT1372017	hsa-miR-4695-5p	CLIP-seq
MIRT1372018	hsa-miR-4716-3p	CLIP-seq
MIRT1372019	hsa-miR-4723-5p	CLIP-seq
MIRT1372020	hsa-miR-4725-5p	CLIP-seq
MIRT1372021	hsa-miR-4729	CLIP-seq
MIRT1372022	hsa-miR-4732-3p	CLIP-seq
MIRT1372023	hsa-miR-4734	CLIP-seq
MIRT1372024	hsa-miR-4741	CLIP-seq
MIRT1372025	hsa-miR-4796-3p	CLIP-seq
MIRT1372026	hsa-miR-483-3p	CLIP-seq
MIRT1372027	hsa-miR-484	CLIP-seq
MIRT1372028	hsa-miR-486-5p	CLIP-seq
MIRT1372029	hsa-miR-499-5p	CLIP-seq
MIRT1372030	hsa-miR-504	CLIP-seq
MIRT1372031	hsa-miR-532-3p	CLIP-seq
MIRT1372032	hsa-miR-548l	CLIP-seq
MIRT1372033	hsa-miR-570	CLIP-seq
MIRT1372034	hsa-miR-612	CLIP-seq
MIRT1372035	hsa-miR-632	CLIP-seq
MIRT1372036	hsa-miR-650	CLIP-seq
MIRT1372037	hsa-miR-659	CLIP-seq
MIRT1372038	hsa-miR-670	CLIP-seq
MIRT1372039	hsa-miR-711	CLIP-seq
MIRT1372040	hsa-miR-762	CLIP-seq
MIRT1372041	hsa-miR-9	CLIP-seq
MIRT2110416	hsa-miR-10a	CLIP-seq
MIRT2110417	hsa-miR-10b	CLIP-seq
MIRT2110418	hsa-miR-1205	CLIP-seq
MIRT2110419	hsa-miR-1224-5p	CLIP-seq
MIRT1371943	hsa-miR-125a-5p	CLIP-seq
MIRT1371944	hsa-miR-125b	CLIP-seq
MIRT1371946	hsa-miR-1293	CLIP-seq
MIRT1371947	hsa-miR-130a	CLIP-seq
MIRT1371948	hsa-miR-130b	CLIP-seq
MIRT2110420	hsa-miR-143	CLIP-seq
MIRT2110421	hsa-miR-1470	CLIP-seq
MIRT1371949	hsa-miR-150	CLIP-seq
MIRT2110422	hsa-miR-153	CLIP-seq
MIRT1371952	hsa-miR-187	CLIP-seq
MIRT2110423	hsa-miR-1909	CLIP-seq
MIRT2110424	hsa-miR-1910	CLIP-seq
MIRT1371954	hsa-miR-1912	CLIP-seq
MIRT1371955	hsa-miR-1915	CLIP-seq
MIRT1371956	hsa-miR-19a	CLIP-seq
MIRT1371957	hsa-miR-19b	CLIP-seq
MIRT1371958	hsa-miR-2110	CLIP-seq
MIRT2110425	hsa-miR-2467-3p	CLIP-seq
MIRT2110426	hsa-miR-2861	CLIP-seq
MIRT1371960	hsa-miR-301a	CLIP-seq
MIRT1371961	hsa-miR-301b	CLIP-seq
MIRT1371962	hsa-miR-30a	CLIP-seq
MIRT1371963	hsa-miR-30b	CLIP-seq
MIRT1371964	hsa-miR-30c	CLIP-seq
MIRT1371965	hsa-miR-30d	CLIP-seq
MIRT1371966	hsa-miR-30e	CLIP-seq
MIRT1371967	hsa-miR-3133	CLIP-seq
MIRT1371969	hsa-miR-3144-5p	CLIP-seq
MIRT1371970	hsa-miR-3148	CLIP-seq
MIRT1371971	hsa-miR-3150a-3p	CLIP-seq
MIRT1371972	hsa-miR-3155	CLIP-seq
MIRT1371973	hsa-miR-3155b	CLIP-seq
MIRT1371975	hsa-miR-3173-3p	CLIP-seq
MIRT2110427	hsa-miR-3176	CLIP-seq
MIRT1371977	hsa-miR-3191	CLIP-seq
MIRT1371983	hsa-miR-323-5p	CLIP-seq
MIRT1371984	hsa-miR-346	CLIP-seq
MIRT2110428	hsa-miR-34c-3p	CLIP-seq
MIRT2110429	hsa-miR-3591-3p	CLIP-seq
MIRT1371986	hsa-miR-3612	CLIP-seq
MIRT1371988	hsa-miR-3666	CLIP-seq
MIRT1371990	hsa-miR-376c	CLIP-seq
MIRT2110430	hsa-miR-3915	CLIP-seq
MIRT2110431	hsa-miR-3922-3p	CLIP-seq
MIRT2110432	hsa-miR-3928	CLIP-seq
MIRT1371993	hsa-miR-4260	CLIP-seq
MIRT2110433	hsa-miR-4287	CLIP-seq
MIRT1371994	hsa-miR-4288	CLIP-seq
MIRT1371996	hsa-miR-4295	CLIP-seq
MIRT1371998	hsa-miR-4319	CLIP-seq
MIRT2110434	hsa-miR-4327	CLIP-seq
MIRT1372000	hsa-miR-4432	CLIP-seq
MIRT2110435	hsa-miR-4446-3p	CLIP-seq
MIRT2110436	hsa-miR-4469	CLIP-seq
MIRT2110437	hsa-miR-448	CLIP-seq
MIRT1372004	hsa-miR-4483	CLIP-seq
MIRT1372006	hsa-miR-4492	CLIP-seq
MIRT1372007	hsa-miR-4498	CLIP-seq
MIRT1372008	hsa-miR-4505	CLIP-seq
MIRT1372009	hsa-miR-4511	CLIP-seq
MIRT1372010	hsa-miR-4530	CLIP-seq
MIRT1372011	hsa-miR-454	CLIP-seq
MIRT2110438	hsa-miR-4642	CLIP-seq
MIRT2110439	hsa-miR-4645-5p	CLIP-seq
MIRT2110440	hsa-miR-4646-5p	CLIP-seq
MIRT1372013	hsa-miR-4652-5p	CLIP-seq
MIRT2110441	hsa-miR-4667-3p	CLIP-seq
MIRT1372015	hsa-miR-4671-3p	CLIP-seq
MIRT2110442	hsa-miR-4673	CLIP-seq
MIRT2110443	hsa-miR-4685-3p	CLIP-seq
MIRT2110444	hsa-miR-4685-5p	CLIP-seq
MIRT2110445	hsa-miR-4686	CLIP-seq
MIRT2110446	hsa-miR-4689	CLIP-seq
MIRT1372017	hsa-miR-4695-5p	CLIP-seq
MIRT1372020	hsa-miR-4725-5p	CLIP-seq
MIRT2110447	hsa-miR-4726-3p	CLIP-seq
MIRT1372021	hsa-miR-4729	CLIP-seq
MIRT1372022	hsa-miR-4732-3p	CLIP-seq
MIRT1372023	hsa-miR-4734	CLIP-seq
MIRT2110448	hsa-miR-4747-3p	CLIP-seq
MIRT2110449	hsa-miR-4747-5p	CLIP-seq
MIRT2110450	hsa-miR-4757-5p	CLIP-seq
MIRT2110451	hsa-miR-4763-5p	CLIP-seq
MIRT2110452	hsa-miR-4768-3p	CLIP-seq
MIRT1372027	hsa-miR-484	CLIP-seq
MIRT2110453	hsa-miR-486-3p	CLIP-seq
MIRT1372029	hsa-miR-499-5p	CLIP-seq
MIRT1372030	hsa-miR-504	CLIP-seq
MIRT2110454	hsa-miR-548n	CLIP-seq
MIRT1372035	hsa-miR-632	CLIP-seq
MIRT2110455	hsa-miR-635	CLIP-seq
MIRT1372036	hsa-miR-650	CLIP-seq
MIRT2110456	hsa-miR-665	CLIP-seq
MIRT1372039	hsa-miR-711	CLIP-seq
MIRT1372040	hsa-miR-762	CLIP-seq
MIRT1372041	hsa-miR-9	CLIP-seq
MIRT2110418	hsa-miR-1205	CLIP-seq
MIRT1371947	hsa-miR-130a	CLIP-seq
MIRT1371948	hsa-miR-130b	CLIP-seq
MIRT2110420	hsa-miR-143	CLIP-seq
MIRT2333929	hsa-miR-15a	CLIP-seq
MIRT2333930	hsa-miR-15b	CLIP-seq
MIRT2333931	hsa-miR-16	CLIP-seq
MIRT1371951	hsa-miR-185	CLIP-seq
MIRT2110423	hsa-miR-1909	CLIP-seq
MIRT2110424	hsa-miR-1910	CLIP-seq
MIRT1371955	hsa-miR-1915	CLIP-seq
MIRT2333932	hsa-miR-195	CLIP-seq
MIRT1371956	hsa-miR-19a	CLIP-seq
MIRT1371957	hsa-miR-19b	CLIP-seq
MIRT2110425	hsa-miR-2467-3p	CLIP-seq
MIRT2110426	hsa-miR-2861	CLIP-seq
MIRT1371960	hsa-miR-301a	CLIP-seq
MIRT1371961	hsa-miR-301b	CLIP-seq
MIRT1371962	hsa-miR-30a	CLIP-seq
MIRT1371963	hsa-miR-30b	CLIP-seq
MIRT1371964	hsa-miR-30c	CLIP-seq
MIRT1371965	hsa-miR-30d	CLIP-seq
MIRT1371966	hsa-miR-30e	CLIP-seq
MIRT1371968	hsa-miR-3135b	CLIP-seq
MIRT1371970	hsa-miR-3148	CLIP-seq
MIRT1371978	hsa-miR-320a	CLIP-seq
MIRT1371979	hsa-miR-320b	CLIP-seq
MIRT1371980	hsa-miR-320c	CLIP-seq
MIRT1371981	hsa-miR-320d	CLIP-seq
MIRT1371982	hsa-miR-320e	CLIP-seq
MIRT2333933	hsa-miR-330-3p	CLIP-seq
MIRT2333934	hsa-miR-338-3p	CLIP-seq
MIRT2110428	hsa-miR-34c-3p	CLIP-seq
MIRT1371985	hsa-miR-3607-3p	CLIP-seq
MIRT1371988	hsa-miR-3666	CLIP-seq
MIRT1371989	hsa-miR-3686	CLIP-seq
MIRT2333935	hsa-miR-424	CLIP-seq
MIRT1371992	hsa-miR-4256	CLIP-seq
MIRT2333936	hsa-miR-4274	CLIP-seq
MIRT1371995	hsa-miR-4294	CLIP-seq
MIRT1371996	hsa-miR-4295	CLIP-seq
MIRT1371997	hsa-miR-4306	CLIP-seq
MIRT1371999	hsa-miR-4429	CLIP-seq
MIRT1372010	hsa-miR-4530	CLIP-seq
MIRT1372011	hsa-miR-454	CLIP-seq
MIRT1372012	hsa-miR-4644	CLIP-seq
MIRT2110441	hsa-miR-4667-3p	CLIP-seq
MIRT1372015	hsa-miR-4671-3p	CLIP-seq
MIRT2110445	hsa-miR-4686	CLIP-seq
MIRT2333937	hsa-miR-4708-3p	CLIP-seq
MIRT1372018	hsa-miR-4716-3p	CLIP-seq
MIRT1372019	hsa-miR-4723-5p	CLIP-seq
MIRT1372020	hsa-miR-4725-5p	CLIP-seq
MIRT2110448	hsa-miR-4747-3p	CLIP-seq
MIRT2110451	hsa-miR-4763-5p	CLIP-seq
MIRT2110453	hsa-miR-486-3p	CLIP-seq
MIRT2333938	hsa-miR-497	CLIP-seq
MIRT1372030	hsa-miR-504	CLIP-seq
MIRT2333939	hsa-miR-548aa	CLIP-seq
MIRT2333940	hsa-miR-548ac	CLIP-seq
MIRT2333941	hsa-miR-548d-3p	CLIP-seq
MIRT2333942	hsa-miR-548z	CLIP-seq
MIRT2333943	hsa-miR-576-3p	CLIP-seq
MIRT2333944	hsa-miR-634	CLIP-seq
MIRT2110455	hsa-miR-635	CLIP-seq
MIRT1372037	hsa-miR-659	CLIP-seq
MIRT2333945	hsa-miR-766	CLIP-seq
MIRT2333946	hsa-miR-890	CLIP-seq
MIRT1372041	hsa-miR-9	CLIP-seq
MIRT1371947	hsa-miR-130a	CLIP-seq
MIRT1371948	hsa-miR-130b	CLIP-seq
MIRT1371949	hsa-miR-150	CLIP-seq
MIRT1371953	hsa-miR-188-3p	CLIP-seq
MIRT1371956	hsa-miR-19a	CLIP-seq
MIRT1371957	hsa-miR-19b	CLIP-seq
MIRT1371960	hsa-miR-301a	CLIP-seq
MIRT1371961	hsa-miR-301b	CLIP-seq
MIRT1371970	hsa-miR-3148	CLIP-seq
MIRT1371988	hsa-miR-3666	CLIP-seq
MIRT1371990	hsa-miR-376c	CLIP-seq
MIRT1371996	hsa-miR-4295	CLIP-seq
MIRT1372011	hsa-miR-454	CLIP-seq
MIRT1372015	hsa-miR-4671-3p	CLIP-seq
MIRT2333939	hsa-miR-548aa	CLIP-seq
MIRT2333940	hsa-miR-548ac	CLIP-seq
MIRT2333941	hsa-miR-548d-3p	CLIP-seq
MIRT2333942	hsa-miR-548z	CLIP-seq

Show/Hide all (38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000776	Component	Kinetochore	NAS	11078522
GO:0000785	Component	Chromatin	HDA	16217013
GO:0000785	Component	Chromatin	NAS	12192000
GO:0003712	Function	Transcription coregulator activity	IBA
GO:0003713	Function	Transcription coactivator activity	NAS	8804307
GO:0005515	Function	Protein binding	IPI	20148946, 30021884, 34591612, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006325	Process	Chromatin organization	IEA
GO:0006337	Process	Nucleosome disassembly	IDA	8895581
GO:0006337	Process	Nucleosome disassembly	IEA
GO:0006338	Process	Chromatin remodeling	HDA	16217013
GO:0006338	Process	Chromatin remodeling	IDA	11726552
GO:0006338	Process	Chromatin remodeling	NAS	10078207
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	8804307, 11263494, 17920018, 18809673
GO:0016363	Component	Nuclear matrix	NAS	9128241
GO:0016514	Component	SWI/SNF complex	IBA
GO:0016514	Component	SWI/SNF complex	IDA	8804307
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016514	Component	SWI/SNF complex	NAS	8804307
GO:0016586	Component	RSC-type complex	NAS	8804307
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369, 25066234
GO:0031492	Function	Nucleosomal DNA binding	HDA	16217013
GO:0032991	Component	Protein-containing complex	HDA	16217013
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787, 15985610
GO:0045893	Process	Positive regulation of DNA-templated transcription	IEA
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0140092	Component	BBAF complex	NAS	12368262
GO:2000045	Process	Regulation of G1/S transition of mitotic cell cycle	NAS	10778858
GO:2000781	Process	Positive regulation of double-strand break repair	NAS	16932743, 25066234
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

MIM	HGNC	e!Ensembl
601736	11107	ENSG00000108604

Q92925

Protein name

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 2 (60 kDa BRG-1/Brm-associated factor subunit B) (BRG1-associated factor 60B) (BAF60B)

Protein function

Involved in transcriptional activation and repression of select genes by chromatin remodeling (alteration of DNA-nucleosome topology). Component of SWI/SNF chromatin remodeling complexes that carry out key enzymatic activities, changing chromati

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02201	SWIB	309 → 381	SWIB/MDM2 domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Isoform 2 is expressed in the pancreas. {ECO:0000269|PubMed:8804307}.

Sequence

MSGRGAGGFPLPPLSPGGGAVAAALGAPPPPAGPGMLPGPALRGPGPAGGVGGPGAAAFR
PMGPAGPAAQYQRPGMSPGNRMPMAGLQVGPPAGSPFGAAAPLRPGMPPTMMDPFRKRLL
VPQAQPPMPAQRRGLKRRKMADKVLPQRIRELVPESQAYMDLLAFERKLDQTIARKRMEI
QEAIKKPLTQKRKLRIYISNTFSPSKAEGDSAGTAGTPGGTPAGDKVASWELRVEGKLLD
DPSKQKRKFSSFFKSLVIELDKELYGPDNHLVEWHRMPTTQETDGFQVKRPGDLNVKCTL
LLMLDHQPPQYKLDPRLARLLGVHTQTRAAIMQALWLYIKHNQLQDGHEREYINCNRYFR
QIFSCGRLRFSEIPMKLAGLLQHPDPIVINHVISVDPNDQKKTACYDIDVEVDDPLKAQM
SNFLASTTNQQEIASLDVKIHETIESINQLKTQRDFMLSFSTDPQDFIQEWLRSQRRDLK
IITDVIGNPEEERRAAFYHQPWAQEAVGRHIFAKVQQRRQELEQVLGIRLT

Sequence length

531

Interactions

View interactions

	KEGG		Reactome
	ATP-dependent chromatin remodeling Thermogenesis Hepatocellular carcinoma		RMTs methylate histone arginines RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (4)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive severe congenital neutropenia	Pathogenic	rs1057518731, rs1555580263, rs1057518733	RCV000415510 RCV000415478 RCV000415497	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SMARCD2-related disorder	Likely pathogenic; Pathogenic	rs758123382	RCV003399062	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Specific granule deficiency 1	Pathogenic	rs1057518731, rs1555580263, rs1057518733	RCV000415510 RCV000415478 RCV000415497	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Specific granule deficiency 2	Pathogenic; Likely pathogenic	rs1567760022, rs2144630306, rs2144633398, rs2040280183, rs1057518731, rs1555580263, rs1057518733, rs112986541, rs758123382	RCV001844400 RCV001783782 RCV002248346 RCV003337985 RCV000490556 View all (4 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (7)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
AUTOSOMAL RECESSIVE SCN	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEUTROPENIA	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Premature ovarian insufficiency	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC GRANULE DEFICIENCY	—	CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog CTD, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (22)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Anxiety Separation	Anxiety disorder	Pubtator	33279574	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28369036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29483235	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Monocytic, Chronic	Monocytic Leukemia	CTD_human_DG	28369036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28369036, 29483235		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myelodysplasia	Myelodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
MYELODYSPLASTIC SYNDROME	Myelodysplastic Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Myeloid Leukemia	Myeloid Leukemia	CTD_human_DG	28369036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	28369036		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neutropenia	Neutropenia	CTD_human_DG	28369036		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neutropenia	Neutropenia	HPO_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Osteopenia	Osteopenia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Recurrent otitis media	Otitis media	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Sepsis	Sepsis	Pubtator	33279574	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Specific granule deficiency	Specific Granule Deficiency	CTD_human_DG	28369034, 28369036		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific granule deficiency	Specific Granule Deficiency	ORPHANET_DG	28369036		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Specific granule deficiency	Specific Granule Deficiency	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC GRANULE DEFICIENCY 1	Specific Granule Deficiency	ORPHANET_DG	28369036		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
SPECIFIC GRANULE DEFICIENCY 2	Specific Granule Deficiency	GENOMICS_ENGLAND_DG	28369036		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPECIFIC GRANULE DEFICIENCY 2	Specific Granule Deficiency	ORPHANET_DG	28369036		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SPECIFIC GRANULE DEFICIENCY 2	Specific Granule Deficiency	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

SMARCD2 (SWI/SNF related BAF chromatin remodeling complex subunit D2)