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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 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:55712  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 zebrafish

Protein SuperFamily: SNF2-family ATP-dependent chromatin remodeling factor
Gene Tree: Smarca4

Human
homologs
Human Homolog SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
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
Disease Associations  (2) Diseases Associated with Human SMARCA4
Alleles
and
phenotypes
All alleles(76) : Targeted(6) Gene trapped(68) Chemically induced(2)
 
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(14)
Gene Ontology
(GO)
classifications
All GO classifications: (106 annotations)
Process aortic smooth muscle cell differentiation, ATP catabolic process, ...
Component extracellular space, heterochromatin, ...
Function androgen receptor binding, ATPase activity, ...
External Resources: FuncBase
Expression
Literature Summary: (39 records)
Data Summary: Results (568)    Tissues (278)    Images (58)
Theiler Stages: 5, 8, 11, 13, 14, 15, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 7
RNA in situ 491
Northern blot 26
Western blot 42
RT-PCR 2
cDNA source data(455)
External Resources: Allen Institute   GEO   ArrayExpress
Molecular
reagents
All nucleic(461) cDNA(456) Primer pair(3) Other(2)
Microarray probesets(6)
Other database
links
VEGA Gene ModelOTTMUSG00000037140 (Evidence)
Ensembl Gene ModelENSMUSG00000032187 (Evidence)
Entrez Gene20586 (Evidence)
UniGene286593
DFCITC1573266
DoTSDT.101325039, DT.101380554, DT.492577, DT.91280696
NIA Mouse Gene IndexU010150
EC3.6.4.-
Consensus CDS ProjectCCDS22909.1, CCDS52737.1, CCDS57662.1
International Mouse Knockout Project StatusSmarca4
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(80) RefSeq(18) 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:206588 Mardaryev AN, et al., p63 and Brg1 control developmentally regulated higher-order chromatin remodelling at the epidermal differentiation complex locus in epidermal progenitor cells. Development. 2014 Jan;141(1):101-11
All references(135)
Other
accession IDs
MGD-MRK-1622, 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
04/08/2014
MGI 5.17
The Jackson Laboratory