AutismKB 2.0

Annotation Detail for SMARCA2


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Basic Information Top
Gene Symbol:SMARCA2 ( BAF190,BRM,FLJ36757,MGC74511,SNF2,SNF2L2,SNF2LA,SWI2,Sth1p,hBRM,hSNF2a )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Band: 9p24.3
Quick LinksEntrez ID:6595; OMIM: 600014; Uniprot ID:SMCA2_HUMAN; ENSEMBL ID: ENSG00000080503; HGNC ID: 11098
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
175Phosphoserine.
329Phosphoserine.
591Phosphoserine.
604N6-acetyllysine.
854DEGH box.
956Phosphoserine.
997N6-acetyllysine.
999N6-acetyllysine.
1377Phosphoserine.
1410Phosphoserine.
1418Phosphoserine.
1419Phosphoserine.
1512Phosphoserine.
1516Phosphoserine.
1528Phosphoserine.
1551N6-acetyllysine.
1553N6-acetyllysine.
1555N6-acetyllysine.
1568Phosphoserine.
1572Phosphoserine.
1582Phosphoserine.
1585Phosphoserine.
1587Phosphothreonine.
Location(AA) Modifications Resource
322PhosphoserinePhospho.ELM 6.0
325Phosphoserine.Swiss-Prot 53.0
325PhosphoserinePhospho.ELM 6.0
587Phosphoserine.Swiss-Prot 53.0
587PhosphoserinePhospho.ELM 6.0
611PhosphoserinePhospho.ELM 6.0
952Phosphoserine.Swiss-Prot 53.0
1373PhosphoserinePhospho.ELM 6.0
1373Phosphoserine.Swiss-Prot 53.0
1414Phosphoserine.Swiss-Prot 53.0
1415Phosphoserine.Swiss-Prot 53.0
1547N6-acetyllysine.Swiss-Prot 53.0
1549N6-acetyllysine.Swiss-Prot 53.0
1551N6-acetyllysine.Swiss-Prot 53.0
1564Phosphoserine.Swiss-Prot 53.0
1564PhosphoserinePhospho.ELM 6.0
1568Phosphoserine.Swiss-Prot 53.0
1568PhosphoserinePhospho.ELM 6.0
Location(AA) Modification Resource
16O-linkedHMM predict
16Phosphoserine(ATM)HMM predict
22O-linkedHMM predict
22Phosphoserine(CDC2)HMM predict
22Phosphoserine(ATM)HMM predict
30O-linkedHMM predict
36Phosphoserine(CDC2)HMM predict
36O-linkedHMM predict
39Phosphoserine(IKK)HMM predict
47Phosphoserine(ATM)HMM predict
47Phosphoserine(CDK)HMM predict
47O-linkedHMM predict
54O-linkedHMM predict
117Phosphoserine(ATM)HMM predict
120Phosphotyrosine(Syk)HMM predict
120Phosphotyrosine(INSR)HMM predict
122Phosphoserine(CDK)HMM predict
126Phosphoserine(CDC2)HMM predict
135O-linkedHMM predict
136O-linkedHMM predict
139O-linkedHMM predict
139Phosphoserine(IKK)HMM predict
144Phosphothreonine(MAPK)HMM predict
144O-linkedHMM predict
151Phosphoserine(ATM)HMM predict
151O-linkedHMM predict
172O-linkedHMM predict
172Phosphoserine(CDC2)HMM predict
175Phosphoserine(CDC2)HMM predict
266Phosphoserine(ATM)HMM predict
266O-linkedHMM predict
270Phosphothreonine(CDC2)HMM predict
270Phosphothreonine(CDK)HMM predict
270Phosphothreonine(MAPK)HMM predict
284O-linkedHMM predict
284Phosphoserine(CDK)HMM predict
284Phosphoserine(CDC2)HMM predict
302O-linkedHMM predict
373Phosphothreonine(PKA)HMM predict
411Phosphotyrosine(Jak)HMM predict
418Phosphothreonine(PKC)HMM predict
425Phosphothreonine(PKC)HMM predict
459MethyllysineHMM predict
491Phosphothreonine(PKC)HMM predict
510Phosphotyrosine(INSR)HMM predict
510Phosphotyrosine(EGFR)HMM predict
535N-linkedHMM predict
538N-linkedHMM predict
584Phosphoserine(ATM)HMM predict
631Phosphoserine(IKK)HMM predict
631Phosphoserine(CK1)HMM predict
631Phosphoserine(CK2)HMM predict
634Phosphoserine(CK1)HMM predict
636Phosphoserine(CK1)HMM predict
636Phosphoserine(ATM)HMM predict
638Phosphotyrosine(INSR)HMM predict
638Phosphotyrosine(Syk)HMM predict
638SulfotyrosineHMM predict
647Phosphoserine(CK1)HMM predict
648Phosphoserine(CK2)HMM predict
648Phosphoserine(CK1)HMM predict
652Phosphothreonine(PKC)HMM predict
662PhosphoserineHMM predict
685SulfotyrosineHMM predict
697Phosphotyrosine(Syk)HMM predict
717N-linkedHMM predict
783N-linkedHMM predict
809Phosphoserine(PKG)HMM predict
1024Phosphoserine(CK2)HMM predict
1031Phosphotyrosine(INSR)HMM predict
1312SulfotyrosineHMM predict
1373Phosphoserine(CDC2)HMM predict
1413N-linkedHMM predict
1485Phosphotyrosine(EGFR)HMM predict
1508Phosphoserine(CK1)HMM predict
1508Phosphoserine(CK2)HMM predict
1512Phosphoserine(CK2)HMM predict
1524Phosphoserine(CK1)HMM predict
1568Phosphoserine(CK2)HMM predict
1568PhosphoserineHMM predict
1568Phosphoserine(CK1)HMM predict
1568Phosphoserine(CK2)HMM predict
1578Phosphoserine(CK1)HMM predict
1581Phosphoserine(CK2)HMM predict
1581Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_003070
  • Location:chr9 2005341-2183620
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Fos K562GSE19551 2004882 2005629 747 86
H3K4me3 colorectalcancer 2004115 2004480 365 1044
Pol2 GM12878GSE19551 2004616 2005837 1221 115
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 2192251 2192623 372 8817
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 2122535 2122772 237 0
CTCF CD4SISSRdata 2122535 2122772 237 0
ER MCF7GSE19013 2011703 2012221 518 0
NFkBII GM12892GSE19485 2004368 2008118 3750 0
Nanog hESGSE18292 2008723 2009808 1085 0
Oct4 hESGSE17917 2171825 2172104 279 0
Oct4 hESGSE21916 2008684 2009303 619 0
Oct4 hESGSE21916 2148155 2149126 971 0
Sox2 hESGSE18292 2008741 2009530 789 0
TAF k562GSE8489 2007987 2008685 698 0
hScc1 BcellGSE12603 2005292 2005641 349 0
hScc1 BcellGSE12603 2006494 2008053 1559 0
hScc1 BcellGSE12603 2037342 2037555 213 0
hScc1 BcellGSE12603 2122498 2122866 368 0
hScc1 BcellGSE12603 2171736 2172078 342 0
hScc1 CdLSGSE12603 2122461 2122895 434 0
p130 QuiescentGSE19898 2007841 2008262 421 0
p130 SenescentGSE19898 2007755 2008340 585 0
p130 shRbSenescentGSE19898 2007707 2008247 540 0
p63 keratinocytesGSE17611 2160428 2161364 936 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
26152 mRNA SMARCA2 chr9 2005341 2183621 361 EST chr9 2183234 2183816Sense/Antisense (SA) pairs

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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