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Smarca4 Gene Detail
Summary
  • Symbol
    Smarca4
  • Name
    SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • Synonyms
    b2b508.1Clo, b2b692Clo, Brg1, SNF2beta, SW1/SNF
  • Feature Type
    protein coding gene
  • IDs
    MGI:88192
    NCBI Gene: 20586
  • Gene Overview
    MyGene.info: SMARCA4
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr9:21616169-21704217 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      88049 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 7.84 cM
Homology
more
  • Human Ortholog
    SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
  • Vertebrate Orthologs
    9
  • Human Ortholog
    SMARCA4, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
    Orthology source: HomoloGene, HGNC
  • Synonyms
    BAF190, BAF190A, BRG1, CSS4, hSNF2b, MRD16, RTPS2, SNF2, SNF2L4, SNF2LB, SWI2
  • Links
    NCBI Gene ID: 6597
    neXtProt AC: NX_P51532
    UniProt: P51532

  • Chr Location
    19p13.2; chr19:10960922-11062282 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Smarca4 mouse models; 1 with human SMARCA4 associations

Human Disease Mouse Models
      
IDs
View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    85 phenotypes from 9 alleles in 14 genetic backgrounds
    28 phenotypes from multigenic genotypes
    27 images
    77 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    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 sequence
    Polymorphisms
    less
    • SNPs within 2kb
      229 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 462
      cDNA 456
      Primer pair 3
      Other 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-1622, MGI:5313994, MGI:5316763
    References
    more
    • Summaries
      All 204
      Developmental Gene Expression 65
      Diseases 1
      Gene Ontology 49
      Phenotypes 77
    • 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:260742 Lino Cardenas CL, et al., An HDAC9-MALAT1-BRG1 complex mediates smooth muscle dysfunction in thoracic aortic aneurysm. Nat Commun. 2018 Mar 8;9(1):1009

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    05/15/2018
    MGI 6.12
    The Jackson Laboratory