CD247
Primary Info
Mutation
Mouse studies
DNA sequencing


mRNA IDs Primary Information
NM_000734.2,NM_198053.1 Gene Symbol CD247
Protein Name Cd247 molecule
Alternate Names CD3-ZETA, CD3H, CD3Q, CD3Z, TCRZ
Gene Locus 1q22-q23

External links
IDR HPRD OMIM Entrez Gene NetPath Reactome PDB HGNC Ensembl Swiss-Prot RefDIC
149 01729 186780 919 NetPath_M919 919 1TCE
1YGR
2HAC
1677 ENSG00000198821 P20963 CD247

Disease name Characteristic / Associated features Category inheritance type
CD3Zeta deficiency Erythroderma; protracted diarrhea; pulmonary abscesses; recurrent episodes of herpes simplex virus infection; episodes of oral infections with Candida albicans; episodes of skin infections with Candida albicans; Recurrent pneumonia; reduced number of circulating T cells; normal number of B cells; normal number of NK cells; absent gamma/delta T cells Combined T-cell and B-cell immunodeficiencies Autosomal recessive