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Smarcd3 Gene Detail
Summary
  • Symbol
    Smarcd3
  • Name
    SWI/SNF related BAF chromatin remodeling complex subunit D3
  • Synonyms
    1500001J14Rik, 2210409C08Rik, BAF60C
  • Feature Type
    protein coding gene
  • IDs
    MGI:1914243
    NCBI Gene: 66993
  • Alliance
  • Transcription Start Sites
    17 TSS
  • Candidate for QTL
    1 QTL
Location &
Maps
more
  • Sequence Map
    Chr5:24797620-24829649 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
  • Genetic Map
    Chromosome 5, 11.93 cM, cytoband A3
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    775 from dbSNP Build 142
  • Strain Annotations
    17
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1914243
protein coding gene Chr5:24795816-24829649 (-)
129S1/SvImJ MGP_129S1SvImJ_G0029352
protein coding gene Chr5:22338359-22377149 (-)
A/J MGP_AJ_G0029318
protein coding gene Chr5:21565480-21598879 (-)
AKR/J MGP_AKRJ_G0029269
protein coding gene Chr5:22430415-22465496 (-)
BALB/cJ MGP_BALBcJ_G0029329
protein coding gene Chr5:22081246-22115169 (-)
C3H/HeJ MGP_C3HHeJ_G0029049
protein coding gene Chr5:22549532-22582638 (-)
C57BL/6NJ MGP_C57BL6NJ_G0029782
protein coding gene Chr5:23838916-23872040 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0027020
protein coding gene Chr5:19507217-19540757 (-)
CAST/EiJ MGP_CASTEiJ_G0028461
protein coding gene Chr5:21735189-21770391 (-)
CBA/J MGP_CBAJ_G0029016
protein coding gene Chr5:24224697-24259752 (-)
DBA/2J MGP_DBA2J_G0029167
protein coding gene Chr5:21858362-21891219 (-)
FVB/NJ no annotation
LP/J MGP_LPJ_G0029251
protein coding gene Chr5:22735919-22769235 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0029154
protein coding gene Chr5:25337756-25371341 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0029816
protein coding gene Chr5:22086485-22119379 (-)
PWK/PhJ MGP_PWKPhJ_G0028185
protein coding gene Chr5:20940837-20973649 (-)
SPRET/EiJ MGP_SPRETEiJ_G0028016
protein coding gene Chr5:21430085-21464491 (-)
WSB/EiJ MGP_WSBEiJ_G0028541
protein coding gene Chr5:22155947-22189198 (-)



Homology
more
  • Human Ortholog
    SMARCD3, SWI/SNF related BAF chromatin remodeling complex subunit D3
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    SMARCD3, SWI/SNF related BAF chromatin remodeling complex subunit D3
  • Synonyms
    BAF60C, CRACD3, Rsc6p
  • Links
    NCBI Gene ID: 6604
    neXtProt AC: NX_Q6STE5
    UniProt: Q6STE5

  • Chr Location
    7q36.1; chr7:151238764-151277896 (-)  GRCh38

Human Diseases
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  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    48 phenotypes from 4 alleles in 6 genetic backgrounds
    19 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.
Mice homozygous for a null allele exhibit die around E12.5-E14.5, depending on background, exhibit various cardiac defects including hemorrhage, dilated heart, abnormal interventricular septum development, and impaired heart physiology.
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
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
  • Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic 66993 NCBI Gene Model | MGI Sequence Detail 32030 C57BL/6J ±  kb
    transcript NM_025891 RefSeq | MGI Sequence Detail 1743 C57BL/6  
    polypeptide Q6P9Z1 UniProt | EBI | MGI Sequence Detail 483 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      2 Sequences
    • Protein Ontology
      PR:000015267 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3
    • InterPro Domains
      IPR019835 SWIB domain
      IPR003121 SWIB/MDM2 domain
      IPR036885 SWIB/MDM2 domain superfamily
      IPR038043 SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D 3, SWIB domain
    • GlyGen
      Q6P9Z1 1 site, 1 O-linked glycan (1 site)
    Molecular
    Reagents
    less
    • All nucleic 20
      cDNA 11
      Primer pair 6
      Other 3

      Microarray probesets 5
    Other
    Accession IDs
    less
    MGI:1925633
    References
    more
    • Summaries
      All 99
      Developmental Gene Expression 34
      Diseases 1
      Gene Ontology 27
      Phenotypes 19
    • Earliest
      J:109968 Roderick TH, et al., Nineteen paracentric chromosomal inversions in mice. Genetics. 1974 Jan;76(1):109-17
    • Latest
      J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    last database update
    12/10/2024
    MGI 6.24
    The Jackson Laboratory