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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
  • Transcription Start Sites
    12 TSS
Location &
Maps
more
  • Sequence Map
    Chr9:21616169-21704230 bp, + strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 9, 7.84 cM
Strain
Comparison
more
  • SNPs within 2kb
    229 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88192
protein coding gene Chr9:21616106-21704230 (.)
129S1/SvImJ MGP_129S1SvImJ_G0034459
protein coding gene Chr9:18853109-18947666 (+)
A/J MGP_AJ_G0034437
protein coding gene Chr9:18514653-18604556 (+)
AKR/J MGP_AKRJ_G0034364
protein coding gene Chr9:18876813-18968372 (+)
BALB/cJ MGP_BALBcJ_G0034428
protein coding gene Chr9:18398165-18486471 (+)
C3H/HeJ MGP_C3HHeJ_G0034140
protein coding gene Chr9:19172216-19264301 (+)
C57BL/6NJ MGP_C57BL6NJ_G0034949
protein coding gene Chr9:19612025-19702866 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0031879
protein coding gene Chr9:17624689-17717056 (+)
CAST/EiJ MGP_CASTEiJ_G0033463
protein coding gene Chr9:19003147-19094622 (+)
CBA/J MGP_CBAJ_G0034113
protein coding gene Chr9:20366714-20468906 (+)
DBA/2J MGP_DBA2J_G0034272
protein coding gene Chr9:18483753-18574945 (+)
FVB/NJ MGP_FVBNJ_G0034215
protein coding gene Chr9:18018059-18106821 (+)
LP/J MGP_LPJ_G0034357
protein coding gene Chr9:19003974-19094970 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0034258
protein coding gene Chr9:21953597-22054464 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0034969
protein coding gene Chr9:18821734-18910987 (+)
PWK/PhJ MGP_PWKPhJ_G0033168
protein coding gene Chr9:18481261-18572318 (+)
SPRET/EiJ MGP_SPRETEiJ_G0033003
protein coding gene Chr9:18874406-18972553 (+)
WSB/EiJ MGP_WSBEiJ_G0033578
protein coding gene Chr9:18547193-18645210 (+)



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
    78 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
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 ENSMUSG00000032187 Ensembl Gene Model | MGI Sequence Detail 88062 C57BL/6J ±  kb
    transcript ENSMUST00000098948 Ensembl | MGI Sequence Detail 6376 Not Applicable  
    polypeptide ENSMUSP00000096547 Ensembl | MGI Sequence Detail 1617 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 464
      Genomic 1
      cDNA 456
      Primer pair 4
      Other 3

      Microarray probesets 6
    Other
    Accession IDs
    less
    MGD-MRK-1622, MGI:5313994, MGI:5316763
    References
    more
    • Summaries
      All 208
      Developmental Gene Expression 69
      Diseases 1
      Gene Ontology 49
      Phenotypes 78
    • 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:264370 Sima J, et al., Eda-activated RelB recruits an SWI/SNF (BAF) chromatin-remodeling complex and initiates gene transcription in skin appendage formation. Proc Natl Acad Sci U S A. 2018 Aug 7;115(32):8173-8178

    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
    11/06/2018
    MGI 6.13
    The Jackson Laboratory