CD3E |
- 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
- 0.47(Read more about gnomAD pLI score)
- LOEUF
- 0.66(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
ClinGen Curation ID:
CCID:006810
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:
- immunodeficiency 18 Monarch
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)