Information on ICOS
Basic details
Alt. symbols: AILIM | CD278
Approved name: inducible T cell costimulator
Alt. names: inducible T-cell costimulator | activation-inducible lymphocyte immunomediatory molecule
Location: 2q33.2: 203936763 - 203961577 (+)
Gene type: protein_coding, 2 transcripts.
Scores: LoFtool: 0.428000 | pLI: 0.05200923 | LOEUF: 0.905
Normal function
ICOS encodes the inducible T-cell costimulator protein, a receptor found on the surface of T cells. ICOS plays an important role in the production of both type 1 and type 2 cytokines by recently activated T cells. The corresponding ligand is encoded by the ICOSLG gene. The T cell-specific cell surface receptors CD28 and CTLA4 are important regulators of the immune system. CD28 potently enhances T-cell functions necessary for an effective antigen-specific immune response, and CTLA4 counterbalances the CD28-mediated signals and thus prevents an otherwise overstimulation of the lymphoid system with possible consequent autoimmunity (Hutloff et al., 1999).
Dysfunction and disease
Biallelic loss-of-function mutations in ICOS cause a type of common variable immunodeficiency (CVID) known as CVID1 [MIM:607594] [Load More]
[Reviewed by Andrés Caballero-Oteyza on ]
Associated conditions
Please mind that full curation (inclusion of all published patients) of this gene has not been completed yet. It is currently ongoing.
Transcripts of ICOS
Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
---|---|---|---|---|---|---|---|---|---|
201 | ENST00000316386.11 | 1 | CCDS2363 | Select | protein_coding | 5 | Yes | 2630 | NM_012092 |
Published variants
Found 6 variants
Please mind that full curation (inclusion of all published variants) of this gene has not been completed yet. It is currently ongoing.
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. |