Information on ICOSLG
Basic details
Alt. symbols: ICOSL | KIAA0653 | GL50 | B7-H2 | B7RP-1 | B7H2 | B7RP1 | ICOS-L | CD275 | B7h
Approved name: inducible T cell costimulator ligand
Alt. names: inducible T-cell costimulator ligand | B7-related protein 1, B7 homologue 2, B7 homolog 2
Location: 21q22.3: 44215382 - 44241446 (-)
Gene type: protein_coding, 17 transcripts.
Scores: LoFtool: 0.680000 | pLI: 0.04254845 | LOEUF: 0.919
Normal function
Ligand for the T-cell-specific cell surface receptor ICOS. Acts as a costimulatory signal for T-cell proliferation and cytokine secretion; induces also B-cell proliferation and differentiation into plasma cells. Could play an important role in mediating local tissue responses to inflammatory conditions, as well as in modulating the secondary immune response by co-stimulating memory T-cell function (By similarity).
Dysfunction and disease
One biallelic homozygous missense mutation (c.657C>G; p.N219K) affecting the extracellular domain of the canonical protein isoform has been reported for ICOSLG in one male patient diagnosed with combined immunodeficiency syndrome featuring recurrent respiratory tract and DNA-based viral infections, hypogammaglobulinemia, and panlymphopenia. The patient also developed moderate neutropenia but without prototypical pyogenic infections (PMID: 30498080). [Load More]
[Reviewed by Andrés Caballero-Oteyza on 2020-12-01 14:58:02]
Associated conditions
| Acronym | Condition's_name | MOI | Mode_of_action |
OMIM_ID | No.cases |
|---|---|---|---|---|---|
CID4 |
Combined immunodeficiency 4 | AR |
620825 |
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 ICOSLG
| Name | ENSEMBL_ID | LRG_ID | CCDS_ID | MANE | Transcript.type | Exons | Canonical | CDS_length | REFSEQ_ID |
|---|---|---|---|---|---|---|---|---|---|
| 204 | ENST00000407780.8 | CCDS42952 | Select | protein_coding | 7 | Yes | 7080 | NM_015259 | |
| 205 | ENST00000643466.2 | protein_coding | 2 | No | 1267 | XM_011529514 | |||
| 202 | ENST00000400377.4 | CCDS63377 | protein_coding | 6 | No | 2907 | NM_001283051 | ||
| 201 | ENST00000344330.9 | CCDS63379 | protein_coding | 7 | No | 1009 | NM_001283050 | ||
| 211 | ENST00000700355.1 | protein_coding | No | NM_001395918 | |||||
| 214 | ENST00000700358.1 | protein_coding | No | NM_001283052,NM_001365759 | |||||
| 216 | ENST00000700360.1 | protein_coding | No | XM_011529516 |
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 ICOSLG
| ID | Year | Title | Journal | PMID | Variants |
|---|