• 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CD3E (HGNC:1674) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
CD3 epsilon subunit of T-cell receptor complex
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CD3epsilon, CD3-epsilon
%HI
86.63(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.92(Read more about gnomAD LOEUF score)
Cytoband
11q23.3
Genomic Coordinates
GRCh37/hg19: chr11:118175445-118186888 NCBI Ensembl UCSC
GRCh38/hg38: chr11:118304730-118316173 NCBI Ensembl UCSC
MANE Select Transcript
NM_000733.4 ENST00000361763.9 (Read more about MANE Select)
Function
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 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 kinas... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-10451
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Last Evaluated:
05/09/2017

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Variants in CD3E have been associated with a form of severe combined immunodeficiency inherited in an autosomal recessive manner. Biallelic loss-of-function variants in CD3E (PMID: 27807805; 15546002) have been reported in association with the phenotype.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
TS Evidence Comments:
At this time, whole gene duplications have not been reported for CD3E.

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)