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Smarca4
Gene Detail
Symbol

Name
ID
Smarca4
SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
MGI:88192
Synonyms
b2b508.1Clo, b2b692Clo, Brg1, SNF2beta, SW1/SNF
Feature Type
protein coding gene
Genetic Map
Chromosome 9
7.84 cM
Detailed Genetic Map ± 1 cM

Sequence Map
Chr9:21616169-21704217 bp, + strand
From VEGA annotation of GRCm38

  88049 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:135927  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 zebrafish

HCOP human homology predictions: SMARCA4
Protein SuperFamily: SNF2-family ATP-dependent chromatin remodeling factor
Gene Tree: Smarca4

Human
homologs
SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Orthology source: HomoloGene, HGNC

IDs:
NCBI Gene ID: 6597
neXtProt AC: NX_P51532

Human Synonyms: BAF190, BAF190A, BRG1, hSNF2b, MRD16, RTPS2, SNF2, SNF2L4, SNF2LB, SWI2

Human Chr (Location): 19p13.2; chr19:10960922-11062282 (+)  GRCh38.p2

Disease Associations: (2) Diseases Associated with Human SMARCA4

Mutations,
alleles, and
phenotypes
All mutations/alleles(77) : Chemically induced (ENU)(3) Gene trapped(68) Targeted(6)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
Homozygotes for a null allele die in utero before implantation. Embryos heterozygous for this null allele and an ENU-induced allele show impaired definitive erythropoiesis, anemia and lethality during organogenesis. Heterozygotes for a different null allele show cyanosis and cardiovascular defects.
 
Phenotype Images(27)
Interactions
Smarca4 interacts with 246 markers (Mir1a-1, Mir1a-2, Mir1b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (128 annotations)
Process aortic smooth muscle cell differentiation, ATP-dependent chromatin remodeling, ...
Component BAF-type complex, extracellular space, ...
Function androgen receptor binding, ATPase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (51 records)
Data Summary: Results (568)    Tissues (278)    Images (58)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 7
RNA in situ 491
Northern blot 26
Western blot 42
RT-PCR 2
cDNA source data(455)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase smarca4 ; ZFIN smarca4a    NEW 
Molecular
reagents
All nucleic(461) cDNA(456) Primer pair(3) Other(2)
Microarray probesets(6)
Other database
links
VEGA Gene Model OTTMUSG00000037140 (Evidence)
Ensembl Gene Model ENSMUSG00000032187 (Evidence)
Entrez Gene 20586 (Evidence)
UniGene 286593
DFCI TC1573266
DoTS DT.492577, DT.101380554, DT.101325039, DT.91280696
NIA Mouse Gene Index U010150
EC 3.6.4.-
Consensus CDS Project CCDS22909.1, CCDS52737.1, CCDS57662.1
International Mouse Phenotyping Consortium Status Smarca4
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000037140 VEGA Gene Model | MGI Sequence Detail 88049 C57BL/6J ±  kb
transcript OTTMUST00000095628 VEGA | MGI Sequence Detail 6354 Not Applicable 
polypeptide OTTMUSP00000053360 VEGA | MGI Sequence Detail 1614 Not Applicable 

For the selected sequences
All sequences(86) RefSeq(24) UniProt(11)
Polymorphisms
SNPs within 2kb(229 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006576 BRK domain
InterPro IPR001487 Bromodomain
InterPro IPR018359 Bromodomain, conserved site
InterPro IPR014978 Glutamine-Leucine-Glutamine, QLQ
InterPro IPR013999 HAS subgroup
InterPro IPR001650 Helicase, C-terminal
InterPro IPR014012 Helicase/SANT-associated, DNA binding
InterPro IPR014001 Helicase, superfamily 1/2, ATP-binding domain
InterPro IPR027417 P-loop containing nucleoside triphosphate hydrolase
InterPro IPR000330 SNF2-related
Protein Ontology PR:000029763 transcription activator BRG1
References
(Earliest) J:19595 Wassarman DA, et al., RNA splicing. Alive with DEAD proteins [news; comment]. Nature. 1991 Feb 7;349(6309):463-4
(Latest) J:220830 Laurette P, et al., Transcription factor MITF and remodeller BRG1 define chromatin organisation at regulatory elements in melanoma cells. Elife. 2015;4
All references(154)
Other
accession IDs
MGD-MRK-1622, MGI:5313994, MGI:5316763

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/23/2015
MGI 5.22
The Jackson Laboratory