ICOS (inducible T cell costimulator)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
29851
Gene name Gene Name - the full gene name approved by the HGNC.
Inducible T cell costimulator
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ICOS
Synonyms (NCBI Gene) Gene synonyms aliases
AILIM, CD278, CVID1
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2q33.2
Summary Summary of gene provided in NCBI Entrez Gene.
The protein encoded by this gene belongs to the CD28 and CTLA-4 cell-surface receptor family. It forms homodimers and plays an important role in cell-cell signaling, immune responses, and regulation of cell proliferation. [provided by RefSeq, Jul 2008]
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
SNP ID Visualize variation Clinical significance Consequence
rs76778263 G>A,C Conflicting-interpretations-of-pathogenicity, likely-benign Coding sequence variant, missense variant
rs201031378 C>G,T Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant, missense variant
rs375299065 T>C Likely-pathogenic Coding sequence variant, missense variant
rs1559035937 T>C Likely-pathogenic Splice donor variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(41)
miRTarBase ID miRNA Experiments Reference
MIRT1058877 hsa-miR-1207-3p CLIP-seq
MIRT1058878 hsa-miR-153 CLIP-seq
MIRT1058879 hsa-miR-320a CLIP-seq
MIRT1058880 hsa-miR-320b CLIP-seq
MIRT1058881 hsa-miR-320c CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(14)
GO ID Ontology Definition Evidence Reference
GO:0002517 Process T cell tolerance induction IBA
GO:0005515 Function Protein binding IPI 11956294, 16951355, 18641334, 27135603
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IDA 30523347
GO:0005886 Component Plasma membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604558 5351 ENSG00000163600
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9Y6W8
Protein name Inducible T-cell costimulator (Activation-inducible lymphocyte immunomediatory molecule) (CD antigen CD278)
Protein function Stimulatory receptor expressed in activated or antigen-experienced T-cells that plays an important role in the immune response (PubMed:9930702). Upon binding to its ligand ICOSL expressed on antigen presenting cells (APCs), delivers costimulator
PDB 6X4G , 7JOO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF15910 V-set_2 23 → 134 ICOS V-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Activated T-cells. Highly expressed on tonsillar T-cells, which are closely associated with B-cells in the apical light zone of germinal centers, the site of terminal B-cell maturation. Expressed at lower levels in thymus, lung, lymph
Sequence 
MKSGLWYFFLFCLRIKVLTGEINGSANYEMFIFHNGGVQILCKYPDIVQQFKMQLLKGGQ
ILCDLTKTKGSGNTVSIKSLKFCHSQLSNNSVSFFLYNLDHSHANYYFCNLSIFDPPPFK
VTLTGGYLHIYESQLCCQLKFWLPIGCAAFVVVCILGCILICWLTKKKYSSSVHDPNGEY
MFMRAVNTAKKSRLTDVTL
Sequence length 199
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Cell adhesion molecules
T cell receptor signaling pathway
Intestinal immune network for IgA production
Primary immunodeficiency 		  PIP3 activates AKT signaling
Constitutive Signaling by Aberrant PI3K in Cancer
Costimulation by the CD28 family
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (2)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Common Variable Immunodeficiency immunodeficiency, common variable, 1 rs1559035937, rs757598952 N/A
Immunodeficiency Inherited Immunodeficiency Diseases rs757598952 N/A
Show/Hide Unknown Diseases (9)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Carcinoma Basal cell carcinoma N/A N/A GWAS
Celiac disease Celiac disease N/A N/A GWAS
Diabetes Type 1 diabetes N/A N/A GWAS
Hyperthyroidism Hyperthyroidism N/A N/A GWAS
Show/Hide Text Mining Associations (137)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 22426168, 35563407
Adenocarcinoma Associate 32487090
Adenocarcinoma of Lung Associate 32212417, 37131252, 37850501
Agammaglobulinemia Associate 26399252
Allergic Fungal Sinusitis Associate 37325657
Angina Stable Associate 22426168
Arthritis Psoriatic Associate 36450783
Arthritis Rheumatoid Associate 17323353, 19333938, 25014791, 36270740
Arthritis Rheumatoid Stimulate 22649468
Arthritis Rheumatoid Inhibit 23786396