CD247

Chr 1q24.2

CD247 molecule

Aliases:: CD3H, CD3Q, TCRZ, CD3-ZETA, CD3ZETA
MANE:: ENST00000362089.10

OMIM: 186780 ↗NCBI: 919 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

CD247 · P20963

v62025-08-01

Predicted Aligned Error matrix for CD247 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

62.4/ 100

Low

164 residues

Confidence breakdown

Very high(≥ 90)9%
Confident(70–90)16%
Low(50–70)59%
Very low(< 50)17%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

COVID-19 research
BIALLELIC, autosomal or pseudoautosomal
Primary immunodeficiency or monogenic inflammatory bowel disease
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

immunodeficiency 25
0.73
cutaneous leishmaniasis
0.58
asthma
0.49
T-B+ severe combined immunodeficiency
0.46
T-B- severe combined immunodeficiency
0.46
hypothyroidism
0.45
allergic rhinitis
0.42
allergic disease
0.42
respiratory system disorder
0.39
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
0.38

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

T-cell surface glycoprotein CD3 zeta chain

Part of the TCR-CD3 complex present on T-lymphocyte cell surface that plays an essential role in adaptive immune response. When antigen presenting cells (APCs) activate T-cell receptor (TCR), TCR-mediated signals are transmitted across the cell membrane by the CD3 chains CD3D, CD3E, CD3G and CD247/CD3Z. All CD3 chains contain immunoreceptor tyrosine-based activation motifs (ITAMs) in their cytoplasmic domain. Upon TCR engagement, these motifs become phosphorylated by Src family protein tyrosine kinases LCK and FYN, resulting in the activation of downstream signaling pathways (PubMed:1384049, PubMed:1385158, PubMed:2470098, PubMed:7509083). CD247/CD3Z ITAMs phosphorylation creates multiple docking sites for the protein kinase ZAP70 leading to ZAP70 phosphorylation and its conversion into a catalytically active enzyme (PubMed:7509083). Plays an important role in intrathymic T-cell differentiation. Additionally, participates in the activity-dependent synapse formation of retinal ganglion cells (RGCs) in both the retina and dorsal lateral geniculate nucleus (dLGN) (By similarity)