CD8A |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- CD8A (HGNC:1706) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- CD8 subunit alpha
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- CD8
- Alias symbols
- p32, CD8alpha
- %HI
- 84.5(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.5(Read more about gnomAD LOEUF score)
- Cytoband
- 2p11.2
- Genomic Coordinates
-
GRCh37/hg19: chr2:87011728-87035519 NCBI Ensembl UCSC GRCh38/hg38: chr2:86784605-86808396 NCBI Ensembl UCSC - MANE Select Transcript
- NM_001768.7 ENST00000283635.8 (Read more about MANE Select)
- Function
- Integral membrane glycoprotein that plays an essential role in the immune response and serves multiple functions in responses against both external and internal offenses. In T-cells, functions primarily as a coreceptor for MHC class I molecule:peptide complex. The antigens presented by class I peptides are derived from cytosolic proteins while class II derived from extracellular proteins. Interacts simultaneously with the T-cell receptor (TCR) and the MHC class I proteins presented by antigen pr... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22918
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
08/22/2016
Haploinsufficiency (HI) Score Details
HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype
(Disclaimer)
HI Disease:
- susceptibility to respiratory infections associated with CD8alpha chain mutation Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000002.11)
(NC_000002.12)