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	6595
Gene name	SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2
Gene symbol	SMARCA2
Synonyms (NCBI Gene)	BAF190BISBRMNCBRSSAMRCA2SNF2SNF2L2SNF2LASWI2Sth1phBRMhSNF2a
Chromosome	9
Chromosome location	9p24.3
Summary	The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes

Show/Hide all (51)

SNP ID	Visualize variation	Clinical significance	Consequence
rs281875184	C>G	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875185	G>T	Pathogenic, not-provided	Intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs281875186	G>A,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875187	G>A,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875188	C>A,T	Pathogenic, likely-pathogenic, not-provided	Intron variant, genic upstream transcript variant, missense variant, coding sequence variant
rs281875189	C>T	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875190	C>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875192	C>G,T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875196	G>A,C	Likely-pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875197	G>C,T	Likely-pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875198	G>C	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875199	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875238	C>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875239	G>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs281875240	A>T	Pathogenic, not-provided	Missense variant, genic upstream transcript variant, coding sequence variant
rs387907194	G>A	Pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs797045974	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs797045976	C>A	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs863224921	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs863224922	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs886041042	C>G,T	Likely-pathogenic	Synonymous variant, coding sequence variant, missense variant, genic upstream transcript variant
rs886041045	A>G	Likely-pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs886041299	G>A	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs886041954	T>C	Pathogenic	Coding sequence variant, missense variant, genic upstream transcript variant
rs1057518414	C>T	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518558	G>T	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518982	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057518983	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057520784	A>G	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1057523836	G>A	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1064794024	A>C	Pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1131691369	G>C	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1131691978	T>G	Likely-pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant
rs1343138502	C>A,T	Pathogenic	Synonymous variant, coding sequence variant, missense variant, genic upstream transcript variant
rs1554619354	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554623112	C>G,T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554623885	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant, intron variant
rs1554624095	T>G	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554624100	G>C	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554626829	T>C	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1554629007	T>G	Pathogenic	Genic upstream transcript variant, coding sequence variant, missense variant
rs1586635371	C>-	Likely-pathogenic	Genic upstream transcript variant, frameshift variant, coding sequence variant
rs1586657848	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660338	G>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660370	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660381	G>A	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586660389	C>G	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586692481	A>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586692548	C>T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586692551	G>A,T	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant
rs1586721515	A>C	Likely-pathogenic	Missense variant, genic upstream transcript variant, coding sequence variant

156

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miRTarBase ID	miRNA	Experiments	Reference
MIRT006560	hsa-miR-199a-3p	Luciferase reporter assayqRT-PCRWestern blot	21189327
MIRT006560	hsa-miR-199a-3p	Luciferase reporter assayqRT-PCRWestern blot	21189327
MIRT006561	hsa-miR-199a-5p	Luciferase reporter assayqRT-PCRWestern blot	21189327
MIRT006561	hsa-miR-199a-5p	Luciferase reporter assayqRT-PCRWestern blot	21189327
MIRT021170	hsa-miR-186-5p	Sequencing	20371350
MIRT023063	hsa-miR-124-3p	Proteomics;Microarray	18668037
MIRT023973	hsa-miR-1-3p	Proteomics	18668040
MIRT024676	hsa-miR-215-5p	Microarray	19074876
MIRT026760	hsa-miR-192-5p	Microarray	19074876
MIRT031298	hsa-miR-19b-3p	Sequencing	20371350
MIRT042638	hsa-miR-423-3p	CLASH	23622248
MIRT040280	hsa-miR-615-3p	CLASH	23622248
MIRT107488	hsa-miR-19a-3p	HITS-CLIP	22473208
MIRT031298	hsa-miR-19b-3p	HITS-CLIP	22473208
MIRT1371408	hsa-miR-1183	CLIP-seq
MIRT1371409	hsa-miR-128	CLIP-seq
MIRT1371410	hsa-miR-1304	CLIP-seq
MIRT1371411	hsa-miR-1305	CLIP-seq
MIRT1371412	hsa-miR-1321	CLIP-seq
MIRT1371413	hsa-miR-1323	CLIP-seq
MIRT1371414	hsa-miR-133a	CLIP-seq
MIRT1371415	hsa-miR-133b	CLIP-seq
MIRT1371416	hsa-miR-140-3p	CLIP-seq
MIRT1371417	hsa-miR-19a	CLIP-seq
MIRT1371418	hsa-miR-19b	CLIP-seq
MIRT1371419	hsa-miR-2909	CLIP-seq
MIRT1371420	hsa-miR-3065-5p	CLIP-seq
MIRT1371421	hsa-miR-3162-5p	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT1371426	hsa-miR-323b-3p	CLIP-seq
MIRT1371427	hsa-miR-3617	CLIP-seq
MIRT1371428	hsa-miR-421	CLIP-seq
MIRT1371429	hsa-miR-4272	CLIP-seq
MIRT1371430	hsa-miR-4289	CLIP-seq
MIRT1371431	hsa-miR-4315	CLIP-seq
MIRT1371432	hsa-miR-4428	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT1371434	hsa-miR-4434	CLIP-seq
MIRT1371435	hsa-miR-4504	CLIP-seq
MIRT1371436	hsa-miR-4516	CLIP-seq
MIRT1371437	hsa-miR-4704-5p	CLIP-seq
MIRT1371438	hsa-miR-4729	CLIP-seq
MIRT1371439	hsa-miR-4739	CLIP-seq
MIRT1371440	hsa-miR-4756-5p	CLIP-seq
MIRT1371441	hsa-miR-4786-3p	CLIP-seq
MIRT1371442	hsa-miR-518a-5p	CLIP-seq
MIRT1371443	hsa-miR-527	CLIP-seq
MIRT1371444	hsa-miR-548o	CLIP-seq
MIRT1371445	hsa-miR-561	CLIP-seq
MIRT1371446	hsa-miR-641	CLIP-seq
MIRT2110178	hsa-miR-1231	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT1371414	hsa-miR-133a	CLIP-seq
MIRT1371415	hsa-miR-133b	CLIP-seq
MIRT2110180	hsa-miR-1825	CLIP-seq
MIRT2110181	hsa-miR-3128	CLIP-seq
MIRT2110182	hsa-miR-3130-5p	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT2110184	hsa-miR-4288	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2110185	hsa-miR-4482	CLIP-seq
MIRT2110186	hsa-miR-4720-5p	CLIP-seq
MIRT2110187	hsa-miR-4799-3p	CLIP-seq
MIRT2110188	hsa-miR-515-3p	CLIP-seq
MIRT2110189	hsa-miR-519e	CLIP-seq
MIRT2110190	hsa-miR-632	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT2394851	hsa-miR-3152-5p	CLIP-seq
MIRT2394852	hsa-miR-3155	CLIP-seq
MIRT2394853	hsa-miR-3155b	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2394854	hsa-miR-4774-3p	CLIP-seq
MIRT2394855	hsa-miR-484	CLIP-seq
MIRT2433319	hsa-miR-101	CLIP-seq
MIRT2433320	hsa-miR-144	CLIP-seq
MIRT2433321	hsa-miR-300	CLIP-seq
MIRT2433322	hsa-miR-3140-3p	CLIP-seq
MIRT2433323	hsa-miR-3613-3p	CLIP-seq
MIRT2433324	hsa-miR-375	CLIP-seq
MIRT2433325	hsa-miR-376a	CLIP-seq
MIRT2433326	hsa-miR-376b	CLIP-seq
MIRT2433327	hsa-miR-381	CLIP-seq
MIRT2433328	hsa-miR-3942-3p	CLIP-seq
MIRT2433329	hsa-miR-411	CLIP-seq
MIRT2433330	hsa-miR-4666-3p	CLIP-seq
MIRT2433331	hsa-miR-4789-5p	CLIP-seq
MIRT2433332	hsa-miR-936	CLIP-seq
MIRT2628057	hsa-miR-1252	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT2110180	hsa-miR-1825	CLIP-seq
MIRT2110182	hsa-miR-3130-5p	CLIP-seq
MIRT2628058	hsa-miR-3132	CLIP-seq
MIRT2628059	hsa-miR-3148	CLIP-seq
MIRT2628060	hsa-miR-3168	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT1371426	hsa-miR-323b-3p	CLIP-seq
MIRT2628061	hsa-miR-3646	CLIP-seq
MIRT2628062	hsa-miR-3680	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT2628063	hsa-miR-425	CLIP-seq
MIRT2628064	hsa-miR-4277	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2628065	hsa-miR-4476	CLIP-seq
MIRT2110185	hsa-miR-4482	CLIP-seq
MIRT2628066	hsa-miR-4533	CLIP-seq
MIRT2628067	hsa-miR-4650-3p	CLIP-seq
MIRT2628068	hsa-miR-4680-5p	CLIP-seq
MIRT1371437	hsa-miR-4704-5p	CLIP-seq
MIRT1371441	hsa-miR-4786-3p	CLIP-seq
MIRT2110188	hsa-miR-515-3p	CLIP-seq
MIRT2110189	hsa-miR-519e	CLIP-seq
MIRT2628057	hsa-miR-1252	CLIP-seq
MIRT2110179	hsa-miR-1272	CLIP-seq
MIRT2110180	hsa-miR-1825	CLIP-seq
MIRT2110182	hsa-miR-3130-5p	CLIP-seq
MIRT2628058	hsa-miR-3132	CLIP-seq
MIRT2628059	hsa-miR-3148	CLIP-seq
MIRT2628060	hsa-miR-3168	CLIP-seq
MIRT1371422	hsa-miR-320a	CLIP-seq
MIRT1371423	hsa-miR-320b	CLIP-seq
MIRT1371424	hsa-miR-320c	CLIP-seq
MIRT1371425	hsa-miR-320d	CLIP-seq
MIRT2628061	hsa-miR-3646	CLIP-seq
MIRT2628062	hsa-miR-3680	CLIP-seq
MIRT2110183	hsa-miR-3682-3p	CLIP-seq
MIRT2628063	hsa-miR-425	CLIP-seq
MIRT2628064	hsa-miR-4277	CLIP-seq
MIRT1371433	hsa-miR-4429	CLIP-seq
MIRT2628065	hsa-miR-4476	CLIP-seq
MIRT2110185	hsa-miR-4482	CLIP-seq
MIRT2628066	hsa-miR-4533	CLIP-seq
MIRT2628067	hsa-miR-4650-3p	CLIP-seq
MIRT2628068	hsa-miR-4680-5p	CLIP-seq
MIRT2110188	hsa-miR-515-3p	CLIP-seq
MIRT2110189	hsa-miR-519e	CLIP-seq

Show/Hide all (68)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	TAS	17938176
GO:0000785	Component	Chromatin	IBA
GO:0000785	Component	Chromatin	IDA	12065415
GO:0000785	Component	Chromatin	NAS	12192000, 29374058
GO:0000976	Function	Transcription cis-regulatory region binding	IDA	17984088
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IBA
GO:0003682	Function	Chromatin binding	IEA
GO:0003713	Function	Transcription coactivator activity	IDA	17984088
GO:0003713	Function	Transcription coactivator activity	IEA
GO:0003713	Function	Transcription coactivator activity	TAS	8223438
GO:0004386	Function	Helicase activity	IEA
GO:0004386	Function	Helicase activity	TAS	8223438
GO:0005515	Function	Protein binding	IPI	12065415, 12200431, 15107404, 15696166, 16341228, 16601680, 17984088, 20111005, 21653829, 25416956, 25910212, 26030138, 26787460, 33961781, 34591612, 35271311, 36950384
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	17984088, 25593309
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	IEA
GO:0005654	Component	Nucleoplasm	TAS	8670841
GO:0006338	Process	Chromatin remodeling	IEA
GO:0006338	Process	Chromatin remodeling	NAS	10078207, 29374058
GO:0006338	Process	Chromatin remodeling	TAS	17938176
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	TAS	8670841
GO:0006357	Process	Regulation of transcription by RNA polymerase II	NAS	11263494, 17340523, 17920018, 29374058
GO:0006357	Process	Regulation of transcription by RNA polymerase II	TAS	8223438
GO:0007286	Process	Spermatid development	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	IEA
GO:0008094	Function	ATP-dependent activity, acting on DNA	TAS	17938176
GO:0008284	Process	Positive regulation of cell population proliferation	NAS	29374058
GO:0008285	Process	Negative regulation of cell population proliferation	IDA	14660596
GO:0016514	Component	SWI/SNF complex	IDA	11078522
GO:0016514	Component	SWI/SNF complex	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	NAS	23698369
GO:0030308	Process	Negative regulation of cell growth	IEA
GO:0030308	Process	Negative regulation of cell growth	IMP	12065415
GO:0031507	Process	Heterochromatin formation	IBA
GO:0035060	Component	Brahma complex	NAS	8804307
GO:0042393	Function	Histone binding	IEA
GO:0045111	Component	Intermediate filament cytoskeleton	IDA
GO:0045582	Process	Positive regulation of T cell differentiation	NAS	12110891
GO:0045596	Process	Negative regulation of cell differentiation	NAS	30510198
GO:0045597	Process	Positive regulation of cell differentiation	NAS	11790558, 12368262
GO:0045663	Process	Positive regulation of myoblast differentiation	NAS	11175787
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	12065415
GO:0045893	Process	Positive regulation of DNA-templated transcription	IDA	17984088
GO:0045893	Process	Positive regulation of DNA-templated transcription	IMP	8208605
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	15774904
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS	17938176
GO:0070316	Process	Regulation of G0 to G1 transition	NAS	11790558
GO:0071564	Component	NpBAF complex	ISS
GO:0071564	Component	NpBAF complex	NAS	8804307
GO:0071565	Component	NBAF complex	ISS
GO:0071565	Component	NBAF complex	NAS	17920018
GO:0140092	Component	BBAF complex	NAS	12368262
GO:0140288	Component	GBAF complex	NAS	29374058
GO:0140750	Function	Nucleosome array spacer activity	IBA
GO:1902459	Process	Positive regulation of stem cell population maintenance	NAS	30510198
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
GO:2000819	Process	Regulation of nucleotide-excision repair	NAS	12215535

MIM	HGNC	e!Ensembl
600014	11098	ENSG00000080503

P51531

Protein name

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily A member 2 (SAMRCA2) (EC 3.6.4.-) (BRG1-associated factor 190B) (BAF190B) (Probable global transcription activator SNF2L2) (Protein brahma homolog) (hBRM) (SNF2-alpha)

Protein function

ATPase 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 c

PDB

2DAT , 4QY4 , 5DKC , 5DKH , 6EG2 , 6EG3 , 6HAX , 6HAY , 6HAZ , 7S4E , 7Z6L , 7Z76 , 7Z77 , 7Z78 , 8G1P , 8QJT , 9D11 , 9D12 , 9E1K , 9E30 , 9E31

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF08880	QLQ	173 → 207	QLQ	Domain
PF07529	HSA	437 → 507	HSA	Domain
PF07533	BRK	589 → 632	BRK domain	Domain
PF00176	SNF2_N	710 → 1022	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	1050 → 1164	Helicase conserved C-terminal domain	Family
PF14619	SnAC	1244 → 1326	Snf2-ATP coupling, chromatin remodelling complex	Domain
PF00439	Bromodomain	1411 → 1493	Bromodomain	Domain

Sequence

MSTPTDPGAMPHPGPSPGPGPSPGPILGPSPGPGPSPGSVHSMMGPSPGPPSVSHPMPTM
GSTDFPQEGMHQMHKPIDGIHDKGIVEDIHCGSMKGTGMRPPHPGMGPPQSPMDQHSQGY
MSPHPSPLGAPEHVSSPMSGGGPTPPQMPPSQPGALIPGDPQAMSQPNRGPSPFSPVQLH
QLRAQILAYKMLARGQPLPETLQLAVQGKRTLPGLQQQQQQQQQQQQQQQQQQQQQQQPQ
QQPPQPQTQQQQQPALVNYNRPSGPGPELSGPSTPQKLPVPAPGGRPSPAPPAAAQPPAA
AVPGPSVPQPAPGQPSPVLQLQQKQSRISPIQKPQGLDPVEILQEREYRLQARIAHRIQE
LENLPGSLPPDLRTKATVELKALRLLNFQRQLRQEVVACMRRDTTLETALNSKAYKRSKR
QTLREARMTEKLEKQQKIEQERKRRQKHQEYLNSILQHAKDFKEYHRSVAGKIQKLSKAV
ATWHANTEREQKKETERIEKERMRRLMAEDEEGYRKLIDQKKDRRLAYLLQQTDEYVANL
TNLVWEHKQAQAAKEKKKRRRRKKKAEENAEGGESALGPDGEPIDESSQMSDLPVKVTHT
ETGKVLFGPEAPKASQLDAWLEMNPGYEVAPRSDSEESDSDYEEEDEEEESSRQETEEKI
LLDPNSEEVSEKDAKQIIETAKQDVDDEYSMQYSARGSQSYYTVAHAISERVEKQSALLI
NGTLKHYQLQGLEWMVSLYNNNLNGILADEMGLGKTIQTIALITYLMEHKRLNGPYLIIV
PLSTLSNWTYEFDKWAPSVVKISYKGTPAMRRSLVPQLRSGKFNVLLTTYEYIIKDKHIL
AKIRWKYMIVDEGHRMKNHHCKLTQVLNTHYVAPRRILLTGTPLQNKLPELWALLNFLLP
TIFKSCSTFEQWFNAPFAMTGERVDLNEEETILIIRRLHKVLRPFLLRRLKKEVESQLPE
KVEYVIKCDMSALQKILYRHMQAKGILLTDGSEKDKKGKGGAKTLMNTIMQLRKICNHPY
MFQHIEESFAEHLGYSNGVINGAELYRASGKFELLDRILPKLRATNHRVLLFCQMTSLMT
IMEDYFAFRNFLYLRLDGTTKSEDRAALLKKFNEPGSQYFIFLLSTRAGGLGLNLQAADT
VVIFDSDWNPHQDLQAQDRAHRIGQQNEVRVLRLCTVNSVEEKILAAAKYKLNVDQKVIQ
AGMFDQKSSSHERRAFLQAILEHEEENEEEDEVPDDETLNQMIARREEEFDLFMRMDMDR
RREDARNPKRKPRLMEEDELPSWIIKDDAEVERLTCEEEEEKIFGRGSRQRRDVDYSDAL
TEKQWLRAIEDGNLEEMEEEVRLKKRKRRRNVDKDPAKEDVEKAKKRRGRPPAEKLSPNP
PKLTKQMNAIIDTVINYKDRCNVEKVPSNSQLEIEGNSSGRQLSEVFIQLPSRKELPEYY
ELIRKPVDFKKIKERIRNHKYRSLGDLEKDVMLLCHNAQTFNLEGSQIYEDSIVLQSVFK
SARQKIAKEEESEDESNEEEEEEDEEESESEAKSVKVKIKLNKKDDKGRDKGKGKKRPNR
GKAKPVVSDFDSDEEQDEREQSEGSGTDDE

Sequence length

1590

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

485

Show/Hide Causal Diseases (12)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Blepharophimosis	Likely pathogenic	rs1586660338	RCV001258327
Blepharophimosis - intellectual disability syndrome	Likely pathogenic	rs1820557069	RCV001261978
Blepharophimosis-impaired intellectual development syndrome	Likely pathogenic; Pathogenic	rs2537347573, rs2537310121, rs281875199, rs1586692481, rs1586692548, rs1586692551, rs1586660370, rs1586657848, rs1586660381, rs281875197	RCV002471645 RCV002776548 RCV003326346 RCV001375921 RCV005232064 RCV001375922 RCV006449279 RCV001375920 RCV001375918 RCV001375919 RCV003147603
Hirsutism	Pathogenic	rs281875189	RCV001261297
Intellectual disability	Pathogenic; Likely pathogenic	rs281875189, rs1554623112, rs863224922, rs1586692481, rs1586692548, rs1586692551, rs1586660389, rs1586660370, rs1586660338, rs1586657848, rs1586660381, rs1821584135, rs1823200345	RCV001260811 RCV001260785 RCV001027657 RCV001027658 RCV001027659 RCV001027661 RCV001027662 RCV001029744 RCV001029745 RCV001029746 RCV001029747 RCV001029748 RCV001258327 RCV001260861 RCV001260788
Neurodevelopmental delay	Likely pathogenic	rs2130474729, rs1057518558	RCV002274374 RCV002274422
Neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs281875189	RCV002276808
Nicolaides-Baraitser syndrome	Likely pathogenic; Pathogenic	rs1821581008, rs2130626814, rs2130599529, rs2130464312, rs2537379834, rs281875205, rs2537363604, rs797045974, rs797045976, rs863224922, rs863224921, rs2537347486, rs886041045, rs1207202747, rs2537404828 View all (31 more)	RCV001335088 RCV001706781 RCV001775434 RCV002246729 RCV002471832 RCV002471838 RCV002471840 RCV000195199 RCV000194318 RCV000196887 RCV000200789 RCV003152902 RCV000258017 RCV003329105 RCV003330159 RCV003529921 RCV004555271 RCV000408609 RCV002250622 RCV000022908 RCV000022909 RCV000022910 RCV000022911 RCV000022912 RCV000022913 RCV000022914 RCV000022915 RCV000022916 RCV000022917 RCV000022918 RCV000022919 RCV000024365 RCV000502088 RCV000504162 RCV000501135 RCV000680103 RCV000988137 RCV001270388 RCV002470756 RCV002255112 RCV001330804 RCV001261962 RCV001253448 RCV001260903 RCV001261295 RCV001261296 RCV001262574 RCV001265544 RCV001270403 RCV001283797
Nonpapillary renal cell carcinoma	Pathogenic	rs281875189	RCV005888649
Pituitary stalk interruption syndrome	Likely pathogenic	rs1819528679	RCV001257301
SMARCA2-related BAFopathy	Likely pathogenic; Pathogenic	rs1821581008, rs281875199, rs1471482709, rs281875187, rs281875188, rs1554623112, rs1586692551	RCV001533097 RCV001533101 RCV001533102 RCV001533105 RCV001533103 RCV001533099 RCV001533104
SMARCA2-related disorder	Likely pathogenic	rs2537374056, rs281875197, rs1820558146	RCV003906842 RCV003962982 RCV003399051

Show/Hide Unknown Diseases (20)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
-	no classification for the single variant	rs1057518982, rs1057518983	-
Abnormal cerebral morphology	Uncertain significance	rs764240763	RCV002275923
Acute myeloid leukemia	Benign	rs747807571, rs114448411, rs17387924	RCV005915632 RCV005900549 RCV005900559
Adenoid cystic carcinoma	-	rs1314729940	RCV004813295
Autism spectrum disorder	Uncertain significance; Likely benign	rs2537507437, rs2537192615	RCV003127246 RCV003127247
Chiari malformation	Uncertain significance	rs1586680296	RCV001027663
Coffin Siris/Intellectual Disability	Conflicting classifications of pathogenicity	rs149394378, rs113070757	RCV000114293 RCV000114295
Coffin-Siris syndrome	not provided	rs281875202	RCV001249330
Coffin-Siris syndrome 1	Uncertain significance	rs1554618664	RCV000678344
Developmental disorder	Uncertain significance	rs370403102	RCV001843762
Ehlers-Danlos syndrome	Benign; Likely benign	rs751758557	RCV005626338
Gastric cancer	Benign	rs10964465, rs114448411	RCV005917980 RCV005900550
Intellectual disability, autosomal dominant	Uncertain significance	rs771591197	RCV000430772
Lung cancer	Benign	rs114448411	RCV005900551
Microcephaly	Uncertain significance	rs1254091950	RCV001252912
Ovarian serous cystadenocarcinoma	Benign	rs10964465	RCV005917981
Sarcoma	Benign; Likely benign	rs142175015, rs17387924	RCV005919357 RCV005900560
See cases	Conflicting classifications of pathogenicity	rs754943076	RCV002287683
Severe intellectual deficiency	Uncertain significance	rs1057518990	RCV000415226
Vein of Galen aneurysmal malformation	association	rs1471482709	RCV001849639

Show/Hide Text Mining Associations (76)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Adenocarcinoma	Associate	28427211, 31906887, 35289322, 40101550
Adenocarcinoma of Lung	Associate	23163725, 35238419, 35289322, 40453096
Adenoma Pleomorphic	Associate	36178285
Alopecia Areata	Associate	31169925
Anemia Aplastic	Stimulate	29596882
Aortic Aneurysm Thoracic	Associate	28678310
Aortic Dissection	Associate	28678310
Ataxia	Associate	34296532
Autism Spectrum Disorder	Associate	24736721
Autistic Disorder	Associate	28846756, 34296532
Breast Neoplasms	Associate	15141164
Carcinoid Tumor	Associate	38237798
Carcinoma	Associate	25673149, 34118935, 35151345
Carcinoma Adenoid Cystic	Associate	30382367
Carcinoma Basal Cell	Associate	18923443
Carcinoma Hepatocellular	Associate	23359823, 38184822
Carcinoma Non Small Cell Lung	Associate	23237220, 27827316, 33506327
Carcinoma Renal Cell	Associate	31751681
Carcinoma Renal Cell	Inhibit	36178285
Carcinoma Small Cell	Associate	26356327, 32649682
Carcinoma Small Cell	Inhibit	26564006
Carcinoma Squamous Cell	Associate	18923443
Cell Transformation Neoplastic	Associate	16135788
Cone Rod Dystrophies	Associate	16909397
Endometrial Neoplasms	Associate	26743474
Epilepsies Myoclonic	Associate	27665729
Epilepsy	Associate	34296532
Epstein Barr Virus Infections	Associate	15047827
Esophageal Neoplasms	Associate	24519853
Esophageal Squamous Cell Carcinoma	Associate	31406271
Familial cylindromatosis	Associate	16135788, 31906887
Familial Primary Pulmonary Hypertension	Associate	36899621
Glioblastoma	Associate	37593885
Glioma	Associate	37094128
Growth Disorders	Associate	33270637
Hashimoto Disease	Associate	32019955
Head and Neck Neoplasms	Associate	24519853
Heart Defects Congenital	Associate	26283027
Hypersensitivity Immediate	Inhibit	26564006
Hypersensitivity Immediate	Associate	34079072
Intellectual Disability	Associate	28846756, 31375262, 34706719, 35811451
Lennox Gastaut Syndrome	Associate	28846756
Leukemia Lymphocytic Chronic B Cell	Associate	22675518
Leukemia Myeloid Acute	Associate	27784745, 31350825
Liposarcoma	Associate	26743474
Lung Diseases	Associate	24519853, 40453096
Lung Neoplasms	Associate	23163725, 23237220, 23359823, 24519853, 32855269
Malignant mesenchymal tumor	Associate	34715942
Melanoma	Associate	19784067, 20969766, 23349796, 25026375
Mental Retardation X Linked	Associate	14990586
Mitochondrial Diseases	Associate	37210563
Neoplasm Metastasis	Associate	37954063
Neoplasms	Associate	16135788, 18923443, 20851996, 23229642, 23770848, 24519853, 24817979, 25544751, 25673149, 26139243, 26356327, 26564006, 26743474, 27827316, 28176137 View all (11 more)
Neoplasms	Inhibit	21478905, 23163725, 23359823, 25026375, 27188282, 28427211, 34118935, 35151345
Nicolaides Baraitser syndrome	Associate	27665729, 30459321, 31288860, 31375262, 34296532, 34706719, 35811451, 36117579, 37995436
Oligodendroglioma	Stimulate	23276717
Oligodendroglioma	Associate	23276717
Ovarian Neoplasms	Associate	26356327
Pancreatic Neoplasms	Associate	22233809, 23229642
Peritonitis	Associate	34079072
Polycystic Kidney Autosomal Dominant	Associate	35122417
Precursor Cell Lymphoblastic Leukemia Lymphoma	Associate	27750045
Respiratory Tract Diseases	Associate	37925496
Retinoblastoma	Associate	11719516, 20851996
Rhabdoid Tumor	Inhibit	24913006
Rhabdoid Tumor	Associate	34079072
Sarcoma	Associate	36178285
Sarcoma Clear Cell	Associate	34715942
Schizophrenia	Associate	24736721
Seizures	Associate	35811451
Sinonasal undifferentiated carcinoma	Associate	34871352
Skin Neoplasms	Associate	18923443
Stomach Neoplasms	Associate	33481850
Syndrome	Associate	28846756
Urinary Bladder Neoplasms	Inhibit	32073734
Virus Diseases	Associate	29848589

SMARCA2 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2)