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FLASH GENE
Symbol CD247 contributors: mct/pgu - updated : 01-09-2017
HGNC name CD247 molecule
HGNC id 1677
DNA
TYPE functioning gene
SPECIAL FEATURE component of a cluster
STRUCTURE 87.97 kb     8 Exon(s)
MAPPING cloned Y linked N status confirmed
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
8 - 1687 - 163 - 2006 16337488
8 - 1690 - 164 - 2006 16337488
EXPRESSION
Type widely
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   moderately
Lymphoid/Immunespleen   highly
 thymus   highly
Reproductivemale systemprostate  moderately
cells
SystemCellPubmedSpeciesStageRna symbol
Lymphoid/ImmuneT cell
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a short extracellular domain
  • a cytoplasmic tail with three immunoreceptor tyrosine based activation motifs (ITAM)
  • three ITAM domains
  • highly evolutionarily conserved CXXC motif
  • a short extracellular stalk connecting its Ig-like domains to its transmembrane regions
  • HOMOLOGY
    interspecies ortholog to murine Cd3z
    homolog to rattus Cd3z
    homolog to C.elegans C32E8.3
    Homologene
    FAMILY
  • CD3Z/FCER1G family
  • CATEGORY antigen , receptor membrane
    SUBCELLULAR LOCALIZATION     plasma membrane
        intracellular
    intracellular,cytoplasm
    text type I membrane protein
    basic FUNCTION
  • playing an important role in coupling antigen recognition to several intracellular signal-transduction pathways
  • playing a role in assembly and expression of the TCR complex as well as signal transduction upon antigen triggering
  • playing a necessary role for the development and function of T cells, and participating in intrathymic T-cell differentiation
  • functions as an amplification module in the TCR signaling cascade and is essential for assembly and surface expression of the TCR/CD3 complex
  • the stalks of the CD3G, CD3E, CD3D, CD247 may be critical in transmitting part of the activation signal directly through the membrane
  • modulates blood pressure by altering T-lymphocyte infiltration in the kidney
  • CD247 and FCER1G are integral membrane proteins that have subsequently been found to be obligate signaling adaptors for many immunoreceptors in different cell types
  • association of the adaptor modules FCER1G or CD247 with FCGR3A not only is required for progression of this receptor through the secretory pathway and cell surface expression but also protects the FCGR3A protein from degradation
  • LAT, like CD247 and ZAP70, plays likely a role in neurogenesis and that perturbation of this pathway may lead to neurodevelopmental phenotypes
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS immunity/defense
    PATHWAY
    metabolism
    signaling signal transduction
    a component
  • constituent after pre T cell antigen receptor complex
  • component of the T-cell receptor-CD3 complex
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binding to LY95 and LY94
  • interacting with ZAP70
  • interacting with LAPTM5 involved in CD247 degradation, illustrating a unique mechanism for the control of surface TCR expression and T cell activation
  • binding SHC1 (nonphosphorylated CD247 can recruit SHC1 in advance to prepare for the instant needs for SHC1 on TCR stimulation)
  • expression of the FCGR3A depends on a noncovalent association with the signaling dimers FCER1G and/or CD247
  • FCGR3A requires association with adaptor modules for cell surface expression but shows no preference for assembly with either CD247 or FCER1G
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) IMD25
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional somatic mutation      
    in primary T-cells immunodeficiency
    tumoral germinal mutation      
    in primary T-cells immunodeficiency
    constitutional     --over  
    in patients with aplastic anemia (AA)
    Susceptibility
  • to systemic lupus erythematosus
  • to systemic sclerosis
  • to type 1 diabetes mellitus (T1D) and autoimmune thyroid disease (AITD)
  • Variant & Polymorphism SNP , other
  • polymorphisms in the CD3Z gene influence risk of systemic lupus erythematosus
  • SNP rs2056626 increasing the risk of systemic sclerosis
  • association between T1D/AITD and several variants in CD247
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS