CD247 Gene Summary [Human]

The protein encoded by this gene is T-cell receptor zeta, which together with T-cell receptor alpha/beta and gamma/delta heterodimers, and with CD3-gamma, -delta and -epsilon, forms the T-cell receptor-CD3 complex. The zeta chain plays an important role in coupling antigen recognition to several intracellular signal-transduction pathways. Low expression of the antigen results in impaired immune response. Two alternatively spliced transcript variants encoding distinct isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Details

Type
Processed Transcript
Official Symbol
CD247
Official Name
CD247 molecule [Source:HGNC Symbol;Acc:HGNC:1677]
Ensembl ID
ENSG00000198821
Bio databases IDs NCBI: 919 Ensembl: ENSG00000198821
Aliases CD247 molecule, T-cell surface glycoprotein CD3 zeta chain
Synonyms
4930549J05RIK,A430104F18RIK,CD16Z,CD247 antigen,CD247 molecule,Cd3,CD3H,CD3 NU,CD3Q,CD3Z,CD3-ZETA,CD3-ζ,IMD25,T3Z,Tcrk,TCRZ,TCRzeta,Tcr ζ
Species
Human, Homo sapiens

Protein Domains

A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human CD247 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • extracellular domain
  • protein kinase binding
  • T-cell activation motif
  • Antigen receptor homology 1 domain
  • tyrosine activation motif
  • T-cell surface glycoprotein CD3 zeta chain
  • protein binding
  • identical protein binding
  • itam like domain
  • cytoplasmic domain
  • basic amino acid motif
  • transmembrane domain
  • Immunoreceptor tyrosine-based activation motif
  • intracellular domain
  • protein homodimerization
  • tail domain
  • signaling domain
  • membrane-proximal domain
  • transmembrane receptor
  • protein heterodimerization

Top Findings

The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
  • relapsed acute lymphocytic leukemia
  • acute lymphoblastic lymphoma
  • rheumatoid arthritis
  • systemic lupus erythematosus
  • asthma
  • Waldenström macroglobulinemia
  • precursor B-cell acute lymphoblastic leukemia
  • immunodeficiency due to defect in CD3-zeta
  • undifferentiated acute leukemia
  • relapsed B cell acute lymphoblastic leukemia
regulated by
  • methyl-beta-cyclodextrin
  • CD28
  • TCR (complex)
  • CD3 (complex)
  • sirolimus
  • IL2
  • NFAT5
  • TNF
  • Jurkat E6.1 cells
  • IL6
regulates
role in cell
  • proliferation
  • cell death
  • signaling in
  • apoptosis
  • quantity
  • formation
  • cytotoxicity
  • production in
  • expression in
  • phosphorylation in

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • nuclear fraction
  • raft fractions
  • soluble fraction
  • membrane fraction
  • Cytoplasm
  • cell surface
  • pericentrosomal region
  • intracellular space
  • cellular membrane
  • vesicles
  • lysosome
  • Golgi Apparatus
  • microsome
  • membrane rafts
  • detergent-soluble fraction
  • cytoskeletal fraction

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human CD247 gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • gamma-delta T cell activation
  • macromolecular complex assembly
  • positive regulation of protein localization at cell surface
  • Fc-gamma receptor signaling pathway
  • adaptive immune response
  • cell surface receptor signaling pathway
  • alpha-beta T cell activation
  • protein oligomerization
  • T cell receptor signaling pathway

Cellular Component

Where in the cell the gene product is active
  • Fc-gamma receptor III complex
  • cytoplasm
  • Golgi apparatus
  • T cell receptor complex
  • alpha-beta T cell receptor complex
  • plasma membrane
  • gamma-delta T cell receptor complex

Molecular Function

What the gene product does at the molecular level
  • identical protein binding
  • transmembrane signaling receptor activity
  • protein homodimerization activity
  • protein binding
  • protein heterodimerization activity

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.