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Cd247 Gene Detail
Summary
  • Symbol
    Cd247
  • Name
    CD247 antigen
  • Synonyms
    4930549J05Rik, CD3-eta, Cd3h, Cd3z, CD3 zeta, CD3-zeta, CD3zeta, CD3-zeta/eta, T3z, TCRk, Tcrz
  • Feature Type
    protein coding gene
  • IDs
    MGI:88334
    NCBI Gene: 12503
  • Alliance
    gene page
  • Transcription Start Sites
    16 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:165616250-165704846 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 73.14 cM, cytoband G-H
  • Mapping Data
    16 experiments
Strain
Comparison
more
  • SNPs within 2kb
    2430 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    7
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_88334
 protein coding gene Chr1:165607514-165704846 (+)
129S1/SvImJ MGP_129S1SvImJ_G0016698
 protein coding gene Chr1:171294368-171388081 (+)
A/J MGP_AJ_G0016679
 protein coding gene Chr1:164300746-164407464 (+)
AKR/J MGP_AKRJ_G0016645
 protein coding gene Chr1:169278568-169368507 (+)
BALB/cJ MGP_BALBcJ_G0016640
 protein coding gene Chr1:164799250-164887902 (+)
C3H/HeJ MGP_C3HHeJ_G0016464
 protein coding gene Chr1:169499496-169591538 (+)
C57BL/6NJ MGP_C57BL6NJ_G0017101
 protein coding gene Chr1:177041933-177139096 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0014810
 protein coding gene Chr1:156195330-156280262 (+)
CAST/EiJ MGP_CASTEiJ_G0016044
 protein coding gene Chr1:169099863-169190364 (+)
CBA/J MGP_CBAJ_G0016439
 protein coding gene Chr1:183341604-183445091 (+)
DBA/2J MGP_DBA2J_G0016545
 protein coding gene Chr1:163191070-163277748 (+)
FVB/NJ MGP_FVBNJ_G0016543
 protein coding gene Chr1:161624084-161714409 (+)
LP/J MGP_LPJ_G0016616
 protein coding gene Chr1:172349298-172452784 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0016568
 protein coding gene Chr1:190810608-190901891 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0017137
 protein coding gene Chr1:169144684-169235793 (+)
PWK/PhJ MGP_PWKPhJ_G0015830
 protein coding gene Chr1:162389805-162477741 (+)
SPRET/EiJ MGP_SPRETEiJ_G0015617
 protein coding gene Chr1:167984530-168076902 (+)
WSB/EiJ MGP_WSBEiJ_G0016106
 protein coding gene Chr1:169292909-169383604 (+)



Homology
more
  • Human Ortholog
    CD247, CD247 molecule
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    CD247, CD247 molecule
  • Synonyms
    CD3H, CD3Q, CD3Z, CD3-ZETA, CD3ZETA, IMD25, T3Z, TCRZ
  • Links
    NCBI Gene ID: 919
    neXtProt AC: NX_P20963
    UniProt: P20963

  • Chr Location
    1q24.2; chr1:167425027-167518640 (-)  GRCh38
Human Diseases
more
  • Diseases
    1 with human CD247 associations

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

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    52 phenotypes from 7 alleles in 10 genetic backgrounds
    19 phenotypes from multigenic genotypes
    67 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 targeted null mutations exhibit greatly reduced numbers of CD4+CD8+ cells, and near absence of CD4+CD8-, CD4-CD8+ cells, and TCR expression in the thymus, but the presence of single positive T cells in lymph nodes.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    36
  • GO References
    19
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
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
    780
  • Tissues
    67
  • cDNA Data
    23
  • Literature Summary
    4
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000005763 Ensembl Gene Model | MGI Sequence Detail 88597 C57BL/6J ±  kb
    transcript ENSMUST00000027849 Ensembl | MGI Sequence Detail 1317 Not Applicable  
    polypeptide ENSMUSP00000027849 Ensembl | MGI Sequence Detail 206 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    • UniProt
      4 Sequences
    • Protein Ontology
      PR:000001027 T-cell surface glycoprotein CD3
      (term hierarchy)
    • InterPro Domains
      IPR003110 Phosphorylated immunoreceptor signalling ITAM
      IPR024128 T-cell surface glycoprotein CD3 zeta subunit
      IPR021663 T-cell surface glycoprotein CD3 zeta subunit/High affinity IgE receptor gamma subunit
    Molecular
    Reagents
    less
    • All nucleic 32
      Genomic 6
      cDNA 25
      Primer pair 1

      Microarray probesets 8
    Other
    Accession IDs
    less
    MGD-MRK-14699, MGD-MRK-14930, MGD-MRK-1855, MGD-MRK-1856, MGD-MRK-1857, MGI:1922598, MGI:2138612
    References
    more
    • Summaries
      All 174
      Developmental Gene Expression 4
      Gene Ontology 19
      Phenotypes 67
    • Earliest
      J:9058 Weissman AM, et al., Molecular cloning of the zeta chain of the T cell antigen receptor. Science. 1988 Feb 26;239(4843):1018-21
    • Latest
      J:350414 Du R, et al., CD3zeta-Mediated Signaling Protects Retinal Ganglion Cells in Glutamate Excitotoxicity of the Retina. Cells. 2024 Jun 8;13(12)
    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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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory