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ICOS inducible T cell costimulator [ Homo sapiens (human) ]

Gene ID: 29851, updated on 22-Apr-2024

Summary

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Official Symbol
ICOSprovided by HGNC
Official Full Name
inducible T cell costimulatorprovided by HGNC
Primary source
HGNC:HGNC:5351
See related
Ensembl:ENSG00000163600 MIM:604558; AllianceGenome:HGNC:5351
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
AILIM; CD278; CVID1
Summary
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]
Expression
Biased expression in lymph node (RPKM 7.8), bone marrow (RPKM 6.5) and 9 other tissues See more
Orthologs
mouse all
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Genomic context

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Location:
2q33.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (203936763..203961577)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (204418652..204443466)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (204801486..204826300)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene RNA, U6 small nuclear 474, pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17014 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17015 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:204675919-204677118 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17016 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 12259 Neighboring gene cytotoxic T-lymphocyte associated protein 4 Neighboring gene uncharacterized LOC101927840 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr2:204808046-204809245 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 17017 Neighboring gene zinc finger protein 555 pseudogene Neighboring gene uncharacterized LOC124907966

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Impaired Differentiation of Highly Proliferative ICOS(+)-Tregs Is Involved in the Transition from Low to High Disease Activity in Systemic Lupus Erythematosus (SLE) Patients. Kälble F, et al. Int J Mol Sci, 2021 Aug 31. PMID 34502409, Free PMC Article
  2. Vaccine-induced ICOS(+)CD38(+) circulating Tfh are sensitive biosensors of age-related changes in inflammatory pathways. Herati RS, et al. Cell Rep Med, 2021 May 18. PMID 34095875, Free PMC Article
  3. A Patient with Novel ICOS Mutation Presented with Progressive Loss of B Cells. Sefer AP, et al. J Clin Immunol, 2021 Jan. PMID 33040278
  4. ICOS(+) Tregs: A Functional Subset of Tregs in Immune Diseases. Li DY, et al. Front Immunol, 2020. PMID 32983168, Free PMC Article
  5. Role of Inducible Co-Stimulator (ICOS) in cancer immunotherapy. Amatore F, et al. Expert Opin Biol Ther, 2020 Feb. PMID 31738626

See all (178) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. The Expression and Prognostic Significance of ICOS in NSCLC Integrated Pan-Cancer and Multi-Omics Analyses.
    Title: The Expression and Prognostic Significance of ICOS in NSCLC Integrated Pan-Cancer and Multi-Omics Analyses.
  2. Transcriptional profile and immune infiltration in colorectal cancer reveal the significance of inducible T-cell costimulator as a crucial immune checkpoint molecule.
    Title: Transcriptional profile and immune infiltration in colorectal cancer reveal the significance of inducible T-cell costimulator as a crucial immune checkpoint molecule.
  3. Non-coding autoimmune risk variant defines role for ICOS in T peripheral helper cell development.
    Title: Non-coding autoimmune risk variant defines role for ICOS in T peripheral helper cell development.
  4. Synovial inducible costimulator is correlated with severity in knee osteoarthritis.
    Title: Synovial inducible costimulator is correlated with severity in knee osteoarthritis.
  5. Molecular and clinical characterization of ICOS expression in breast cancer through large-scale transcriptome data.
    Title: Molecular and clinical characterization of ICOS expression in breast cancer through large-scale transcriptome data.
  6. Expression and prognosis of inducible T-cell co-stimulator and its ligand in Chinese stage I-III lung adenocarcinoma patients.
    Title: Expression and prognosis of inducible T-cell co-stimulator and its ligand in Chinese stage I-III lung adenocarcinoma patients.
  7. ICOS gene polymorphisms in systemic lupus erythematosus: A case-control study.
    Title: ICOS gene polymorphisms in systemic lupus erythematosus: A case-control study.
  8. CCR9/CXCR5 Co-Expressing CD4 T Cells Are Increased in Primary Sjogren's Syndrome and Are Enriched in PD-1/ICOS-Expressing Effector T Cells.
    Title: CCR9/CXCR5 Co-Expressing CD4 T Cells Are Increased in Primary Sjögren's Syndrome and Are Enriched in PD-1/ICOS-Expressing Effector T Cells.
  9. MiR-29a-3p negatively regulates circulating Tfh memory cells in patients with Graves' disease by targeting ICOS.
    Title: MiR-29a-3p negatively regulates circulating Tfh memory cells in patients with Graves' disease by targeting ICOS.
  10. Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID.
    Title: Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID.
Submit: New GeneRIF Correction See all GeneRIFs (146)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Immunodeficiency, common variable, 1
MedGen: C3149378 OMIM: 607594 GeneReviews: Not available
Compare labs
Immunodeficiency, common variable, 2
MedGen: C3150354 OMIM: 240500 GeneReviews: Not available
Compare labs

EBI GWAS Catalog

Description
Genome-wide association study in alopecia areata implicates both innate and adaptive immunity.
EBI GWAS Catalog
Multiple common variants for celiac disease influencing immune gene expression.
EBI GWAS Catalog
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • MGC39850

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in T cell costimulation IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in T cell tolerance induction IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in cell-cell adhesion IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in immune response NAS
Non-traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
located_in extracellular region IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
inducible T-cell costimulator
Names
activation-inducible lymphocyte immunomediatory molecule
inducible T-cell co-stimulator
inducible costimulator

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011586.1 RefSeqGene

    Range
    4969..29798
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_65

mRNA and Protein(s)

  1. NM_012092.4 → NP_036224.1  inducible T-cell costimulator precursor

    See identical proteins and their annotated locations for NP_036224.1

    Status: REVIEWED

    Source sequence(s)
    AJ277832, CB528580
    Consensus CDS
    CCDS2363.1
    UniProtKB/Swiss-Prot
    Q8N6W8, Q9Y6W8
    UniProtKB/TrEMBL
    Q53QY6
    Related
    ENSP00000319476.6, ENST00000316386.11
    Conserved Domains (1) summary
    pfam15910
    Location:23 → 134
    V-set_2; ICOS V-set domain

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    203936763..203961577
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444022.1 → XP_047299978.1  inducible T-cell costimulator isoform X1

RNA

  1. XR_007073112.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    204418652..204443466
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054341553.1 → XP_054197528.1  inducible T-cell costimulator isoform X1

RNA

  1. XR_008486351.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9Y6W8.1 GenPept UniProtKB/Swiss-Prot:Q9Y6W8

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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