Information on CD8A
Basic details
Alt. symbols: CD8
Approved name: CD8 subunit alpha
Alt. names: CD8 antigen, alpha polypeptide (p32), T-cell surface glycoprotein CD8 alpha chain
Location: 2p11.2: 86784610 - 86808396 (-)
Gene type: protein_coding, 8 transcripts.
Scores: LoFtool: 0.440000 | pLI: 0.02418110 | LOEUF: 1.495
Normal function
Dysfunction and disease
CD8 deficiency, familial [MIM:608957] [Load More]
[Gene NOT reviewed yet]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
IMD116 |
Immunodeficiency 116 | AR |
Loss of Function | 608957 |
0 (0 fams) |
Please mind that full curation (inclusion of all published patients) of this gene has not started yet. Please contact us if you want to volunteer.
Transcripts of CD8A
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 201 | ENST00000283635.8 | 1 | CCDS1992 | Select | protein_coding | 6 | Yes | 2106 | NM_001768 |
| 202 | ENST00000352580.7 | CCDS1993 | protein_coding | 5 | No | 1977 | NM_171827 | ||
| 203 | ENST00000409511.6 | CCDS1992 | protein_coding | 9 | No | 3048 | NM_001145873,NM_001382698 |
Published variants
Found 0 variants
| Var.name | Exon/Intron | cDNA_pos. | CDS_change | Prot.change | Var.type | Var.class. | Patients |
|---|
Please mind that full curation (inclusion of all published variants) of this gene has not started yet. Please contact us if you want to volunteer.
Diagnostic pitfalls & paradigms
Considerations to take into account when analyzing this gene
| Year | Paradigm ⓘ | PMID | Notes |
|---|---|---|---|
| - | Regions of Homology | - | |
| - | Cryptic splicing | - | Unreported or not recorded in our DB. |
| - | Uniparental disomy | - | Unreported or not recorded in our DB. |
| - | Mosaicism | - | Unreported or not recorded in our DB. |
| - | Incomplete penetrance | - | Unreported or not recorded in our DB. |
| - | Di-/oligo-genic inheritance | - | Unreported or not recorded in our DB. |
| - | Somatic reversion | - | Unreported or not recorded in our DB. |
References linked to variants in CD8A
| ID | Year | Title | Journal | PMID | Variants |
|---|