Version 5.4
Homo sapiens Gene: SMARCA4
Summary
InnateDB Gene IDBG-28592.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol SMARCA4
Gene Name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Synonyms BAF190; BAF190A; BRG1; hSNF2b; MRD16; RTPS2; SNF2; SNF2L4; SNF2LB; SWI2
Species Homo sapiens
Ensembl Gene ENSG00000127616
Encoded Proteins
IDBP-28596
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
IDBP-372025
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
IDBP-372040
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
IDBP-372046
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
IDBP-372048
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
IDBP-593723
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
IDBP-764933
IDBP-763421
IDBP-765334
IDBP-766019
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
InnateDB Annotation
Summary
PMID 19144648
A member of the SWI/SNF family of proteins and is essential for the multiple changes in gene expression that occur during differentiation
PMID 19342595
Required for maintaining expression of several smooth muscle-specific genes
Entrez Gene
Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins and is 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 by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. Mutations in this gene cause rhabdoid tumor predisposition syndrome type 2. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:10961001-11065395
Strand Forward strand
Band p13.2
Transcripts
ENST00000344626 ENSP00000343896
ENST00000429416 ENSP00000395654
ENST00000444061 ENSP00000392837
ENST00000413806 ENSP00000414727
ENST00000450717 ENSP00000397783
ENST00000541122 ENSP00000445036
ENST00000538456
ENST00000586892
ENST00000586122
ENST00000592604
ENST00000586921
ENST00000587988
ENST00000591595
ENST00000592158 ENSP00000467200
ENST00000590574 ENSP00000466963
ENST00000591545
ENST00000585799
ENST00000586985 ENSP00000467796
ENST00000589677 ENSP00000464778
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 331 experimentally validated interaction(s) in this database.
They are also associated with 92 interaction(s) predicted by orthology.
Experimentally validated
Total 331 [view]
Protein-Protein 305 [view]
Protein-DNA 24 [view]
Protein-RNA 0
DNA-DNA 2 [view]
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 92 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding
GO:0001105 RNA polymerase II transcription coactivator activity
GO:0002039 p53 binding
GO:0003676 nucleic acid binding
GO:0003677 DNA binding
GO:0003682 chromatin binding
GO:0003713 transcription coactivator activity
GO:0003714 transcription corepressor activity
GO:0004386 helicase activity
GO:0005515 protein binding
GO:0005524 ATP binding
GO:0008094 DNA-dependent ATPase activity
GO:0008134 transcription factor binding
GO:0016817 hydrolase activity, acting on acid anhydrides
GO:0016818 hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides
GO:0030957 Tat protein binding
GO:0031492 nucleosomal DNA binding
GO:0042393 histone binding
GO:0047485 protein N-terminus binding
GO:0050681 androgen receptor binding
GO:0070577 lysine-acetylated histone binding
Biological Process
GO:0000122 negative regulation of transcription from RNA polymerase II promoter
GO:0000902 cell morphogenesis
GO:0001570 vasculogenesis
GO:0001701 in utero embryonic development
GO:0001832 blastocyst growth
GO:0001835 blastocyst hatching
GO:0001889 liver development
GO:0003407 neural retina development
GO:0006200 ATP catabolic process
GO:0006337 nucleosome disassembly
GO:0006338 chromatin remodeling
GO:0006346 methylation-dependent chromatin silencing
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0007070 negative regulation of transcription from RNA polymerase II promoter during mitosis
GO:0007399 nervous system development
GO:0007403 glial cell fate determination
GO:0007507 heart development
GO:0008152 metabolic process
GO:0010424 DNA methylation on cytosine within a CG sequence
GO:0019827 stem cell maintenance
GO:0022008 neurogenesis
GO:0030198 extracellular matrix organization
GO:0030216 keratinocyte differentiation
GO:0030308 negative regulation of cell growth
GO:0030900 forebrain development
GO:0030902 hindbrain development
GO:0035116 embryonic hindlimb morphogenesis
GO:0035887 aortic smooth muscle cell differentiation
GO:0043044 ATP-dependent chromatin remodeling
GO:0043388 positive regulation of DNA binding
GO:0043923 positive regulation by host of viral transcription
GO:0043966 histone H3 acetylation
GO:0045087 innate immune response (InnateDB)
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048562 embryonic organ morphogenesis
GO:0048730 epidermis morphogenesis
GO:0051091 positive regulation of sequence-specific DNA binding transcription factor activity
GO:0060318 definitive erythrocyte differentiation
GO:0060347 heart trabecula formation
GO:0060766 negative regulation of androgen receptor signaling pathway
GO:0070307 lens fiber cell development
GO:2000134 negative regulation of G1/S transition of mitotic cell cycle
Cellular Component
GO:0000790 nuclear chromatin
GO:0000792 heterochromatin
GO:0005615 extracellular space
GO:0005634 nucleus
GO:0005719 nuclear euchromatin
GO:0005726 perichromatin fibrils
GO:0005730 nucleolus
GO:0016020 membrane
GO:0016514 SWI/SNF complex
GO:0043234 protein complex
GO:0071564 npBAF complex
GO:0071565 nBAF complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
ENSMUSG00000032187
View Gene Order
ENSBTAG00000019220
Not yet available
Pathways
NETPATH
NetPath_9
TNFalpha pathway
NetPath_21
RANKL pathway
REACTOME
REACT_228096
misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling pathway
REACT_228331
Signaling by WNT in cancer pathway
REACT_11045
Signaling by Wnt pathway
REACT_111102
Signal Transduction pathway
REACT_200777
TCF dependent signaling in response to WNT pathway
REACT_172623
Chromatin organization pathway
REACT_228108
RMTs methylate histone arginines pathway
REACT_172633
Chromatin modifying enzymes pathway
REACT_228188
RNF mutants show enhanced WNT signaling and proliferation pathway
REACT_200753
formation of the beta-catenin:TCF transactivating complex pathway
REACT_228279
XAV939 inhibits tankyrase, stabilizing AXIN pathway
REACT_116125
Disease pathway
KEGG
INOH
INOH website
Wnt signaling pathway pathway
INOH website
TGF-beta signaling pathway
INOH website
BMP2 signaling pathway
PID NCI
rb_1pathway
Regulation of retinoblastoma protein
erb_genomic_pathway
Validated nuclear estrogen receptor beta network
p53downstreampathway
Direct p53 effectors
betacatenin_nuc_pathway
Regulation of nuclear beta catenin signaling and target gene transcription
reg_gr_pathway
Glucocorticoid receptor regulatory network
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.327527 Hs.741659
RefSeq NM_001128844 NM_001128845 NM_001128846 NM_001128847 NM_001128848 NM_001128849 NM_003072 XM_005260028 XM_005260031 XM_005260032 XM_005260033 XM_005260034 XM_005260035 XM_006722845 XM_006722846 XM_006722847
HUGO
OMIM
CCDS CCDS12253 CCDS45972 CCDS45973 CCDS54217 CCDS54218
HPRD 04459
IMGT
EMBL
GenPept
RNA Seq Atlas

If you use InnateDB for your research, please cite the following publication:

Breuer et al., InnateDB: systems biology of innate immunity and beyond - recent updates and continuing curation. Nucl. Acids Res. (2013) 41 (D1) 

InnateDB is being developed jointly by the Brinkman Laboratory (Simon Fraser University, British Columbia, Canada), the Hancock Laboratory (University of British Columbia, Vancouver, British Columbia) and the Lynn EMBL Australia Group (South Australian Health & Medical Research Institute and Flinders University, Adelaide, Australia).

Funding is currently provided by Allergen and EMBL Australia. Previous funding has been provided by Genome Canada, the Foundation for the National Institutes of Health through the Grand Challenges in Global Health initiative and by Teagasc. InnateDB curated interactions are licensed under the Design Science License. All other data is licensed under the terms of the originating database. Contact: innatedb-mail@sfu.ca