Gene Gene information from NCBI Gene database.
Entrez ID 925
Gene name CD8 subunit alpha
Gene symbol CD8A
Synonyms (NCBI Gene)
CD8CD8alphaIMD116Leu2p32
Chromosome 2
Chromosome location 2p11.2
Summary The CD8 antigen is a cell surface glycoprotein found on most cytotoxic T lymphocytes that mediates efficient cell-cell interactions within the immune system. The CD8 antigen acts as a coreceptor with the T-cell receptor on the T lymphocyte to recognize an
SNPs SNP information provided by dbSNP.
1
SNP ID Visualize variation Clinical significance Consequence
rs121918660 C>T Pathogenic Non coding transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
40
miRTarBase ID miRNA Experiments Reference
MIRT007284 hsa-miR-196b-5p Luciferase reporter assay 23359619
MIRT016928 hsa-miR-335-5p Microarray 18185580
MIRT876396 hsa-miR-140-5p CLIP-seq
MIRT876397 hsa-miR-2116 CLIP-seq
MIRT876398 hsa-miR-3617 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
ETS1 Activation 8413295
GATA3 Activation 8413295
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
35
GO ID Ontology Definition Evidence Reference
GO:0002250 Process Adaptive immune response IEA
GO:0002250 Process Adaptive immune response NAS 17145893, 22081144
GO:0002376 Process Immune system process IEA
GO:0002456 Process T cell mediated immunity IBA
GO:0005515 Function Protein binding IPI 2470098, 2493728, 9177355, 12853576
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
186910 1706 ENSG00000153563
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P01732
Protein name T-cell surface glycoprotein CD8 alpha chain (T-lymphocyte differentiation antigen T8/Leu-2) (CD antigen CD8a)
Protein 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:p
PDB 1AKJ , 1CD8 , 1Q69 , 2HP4 , 3QZW , 7UMG , 7UVF , 8EW6
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 26 133 Immunoglobulin V-set domain Domain
Tissue specificity TISSUE SPECIFICITY: CD8 on thymus-derived T-cells usually consists of a disulfide-linked alpha/CD8A and a beta/CD8B chain. Less frequently, CD8 can be expressed as a CD8A homodimer. A subset of natural killer cells, memory T-cells, intraepithelial lymphoc
Sequence
MALPVTALLLPLALLLHAARPSQFRVSPLDRTWNLGETVELKCQVLLSNPTSGCSWLFQP
RGAAASPTFLLYLSQNKPKAAEGLDTQRFSGKRLGDTFVLTLSDFRRENEGYYFCSALSN
SIMYFSHFVPVFL
PAKPTTTPAPRPPTPAPTIASQPLSLRPEACRPAAGGAVHTRGLDFA
CDIYIWAPLAGTCGVLLLSLVITLYCNHRNRRRVCKCPRPVVKSGDKPSLSARYV
Sequence length 235
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Cell adhesion molecules
Antigen processing and presentation
Hematopoietic cell lineage
T cell receptor signaling pathway
Yersinia infection
Primary immunodeficiency
  Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Susceptibility to respiratory infections associated with CD8alpha chain mutation Pathogenic rs121918660 RCV000013579
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
CD8A-related disorder Likely benign; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CHRONIC OBSTRUCTIVE AIRWAY DISEASE Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma Uncertain significance ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 116 HPO
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Megakaryocytic Leukemias Megakaryocytic Leukemia BEFREE 26215111
★☆☆☆☆
Found in Text Mining only
Adrenocortical Carcinoma Adrenocortical carcinoma Pubtator 37793855 Associate
★☆☆☆☆
Found in Text Mining only
Alveolitis Extrinsic Allergic Extrinsic allergic alveolitis Pubtator 10337028 Stimulate
★☆☆☆☆
Found in Text Mining only
Alveolitis Extrinsic Allergic Extrinsic allergic alveolitis Pubtator 27792269, 40243992, 9150312 Associate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 23380586, 37949669 Stimulate
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 25197660, 29402847, 35279225, 37545529, 40021385 Associate
★☆☆☆☆
Found in Text Mining only
Amyloidosis Primary Cutaneous Amyloidosis Pubtator 10433941, 9347791 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis Pubtator 36359827 Associate
★☆☆☆☆
Found in Text Mining only
Amyotrophic lateral sclerosis 1 Amyotrophic lateral sclerosis Pubtator 21062492 Associate
★☆☆☆☆
Found in Text Mining only
Anemia Aplastic Aplastic anemia Pubtator 11544283, 11698122, 11843845, 12100138, 14675414, 15345281, 1827129, 21506940, 24528288, 24845454, 26354756, 28831064, 29115638, 29419434, 32714069
View all (5 more)
Associate
★☆☆☆☆
Found in Text Mining only