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

Summary

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

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
Synovial inducible costimulator is correlated with severity in knee osteoarthritis.
Title: Synovial inducible costimulator is correlated with severity in knee osteoarthritis.
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.
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.
ICOS gene polymorphisms in systemic lupus erythematosus: A case-control study.
Title: ICOS gene polymorphisms in systemic lupus erythematosus: A case-control study.
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.
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.
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.
Expression of ICOS in the salivary glands of patients with primary Sjogren's syndrome and its molecular mechanism.
Title: Expression of ICOS in the salivary glands of patients with primary Sjogren's syndrome and its molecular mechanism.

Submit: New GeneRIF Correction See all GeneRIFs (145)

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 EBI GWAS CatalogPubMed
Multiple common variants for celiac disease influencing immune gene expression. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

G54507 (e-PCR)
- UniSTS:140825

G54506 (e-PCR)
- UniSTS:140839

RH103964 (e-PCR)
- UniSTS:98289

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.