CD3G |
- 30
Haplo
Score - -5
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CD3G (HGNC:1675) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CD3 gamma 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
- CD3-GAMMA, CD3GAMMA
- %HI
- 82.39(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.22(Read more about gnomAD LOEUF score)
- Cytoband
- 11q23.3
- Genomic Coordinates
-
GRCh37/hg19: chr11:118215059-118225876 NCBI Ensembl UCSC GRCh38/hg38: chr11:118344344-118355161 NCBI Ensembl UCSC - MANE Select Transcript
- NM_000073.3 ENST00000532917.3 (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-23533
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:
- combined immunodeficiency due to CD3gamma deficiency Monarch
Triplosensitivity (TS) Score Details
TS Evidence Strength:
Not Yet Evaluated (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)