CD3D |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CD3D (HGNC:1673) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CD3 delta subunit of T-cell receptor complex
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- T3D
- Alias symbols
- CD3DELTA, CD3-DELTA
- %HI
- 84.89(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.33(Read more about gnomAD LOEUF score)
- Cytoband
- 11q23.3
- Genomic Coordinates
-
GRCh37/hg19: chr11:118209669-118213420 NCBI Ensembl UCSC GRCh38/hg38: chr11:118338954-118342705 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000732.6 ENST00000300692.9 (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-16021
ClinGen Curation ID:
CCID:006809
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- immunodeficiency 19 Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)