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; chr19:11071598-11172958 (+)  GRCh37.p10
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: (98 annotations)

Process	aortic smooth muscle cell differentiation, ATP catabolic process, ...
Component	heterochromatin, nBAF complex, ...
Function	androgen receptor binding, ATPase activity, ...

External Resources: FuncBase

Expression

Literature Summary: (33 records)
Data Summary: Results (499)    Tissues (236)    Images (48)
Theiler Stages: 5, 8, 11, 14, 15, 17, 18, 19, 20, 21, 22, 23, 26, 28

Assay Type	Results
Immunohistochemistry	7
RNA in situ	440
Northern blot	8
Western blot	42
RT-PCR	2

cDNA source data(455)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(460) cDNA(456) Primer pair(3) Other(1)
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.101325039, DT.101380554, DT.492577, DT.91280696
NIA Mouse Gene Index	U010150
EC	3.6.4.-
Consensus CDS Project	CCDS22909.1, CCDS52737.1, CCDS57662.1
International Mouse Knockout Project Status	Smarca4

Sequences

Length	Strain/Species
genomic	OTTMUSG00000037140	VEGA Gene Model | MGI Sequence Detail	88049	C57BL/6J
transcript	OTTMUST00000095628	VEGA | MGI Sequence Detail	6354	Not Applicable
polypeptide	OTTMUSP00000053360	VEGA | MGI Sequence Detail	1614	Not Applicable

All sequences(68) RefSeq(6) UniProt(11)

Polymorphisms

SNPs(210 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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	IPR006562	HSA
InterPro	IPR000330	SNF2-related
Protein Ontology	PR:000034692	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:194470 Davis RB, et al., BRG1 promotes COUP-TFII expression and venous specification during embryonic vascular development. Development. 2013 Mar;140(6):1272-81
All references(121)

Other accession IDs

MGD-MRK-1622, MGI:5316763