Description: Homo sapiens inducible T-cell co-stimulator (ICOS), mRNA. RefSeq Summary (NM_012092): 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]. Transcript (Including UTRs) Position: hg19 chr2:204,801,471-204,826,298 Size: 24,828 Total Exon Count: 5 Strand: + Coding Region Position: hg19 chr2:204,801,538-204,824,322 Size: 22,785 Coding Exon Count: 5
ID:ICOS_HUMAN DESCRIPTION: RecName: Full=Inducible T-cell costimulator; AltName: Full=Activation-inducible lymphocyte immunomediatory molecule; AltName: CD_antigen=CD278; Flags: Precursor; FUNCTION: Enhances all basic T-cell responses to a foreign antigen, namely proliferation, secretion of lymphokines, up- regulation of molecules that mediate cell-cell interaction, and effective help for antibody secretion by B-cells. Essential both for efficient interaction between T and B-cells and for normal antibody responses to T-cell dependent antigens. Does not up- regulate the production of interleukin-2, but superinduces the synthesis of interleukin-10. Prevents the apoptosis of pre- activated T-cells. Plays a critical role in CD40-mediated class switching of immunoglobin isotypes (By similarity). SUBUNIT: Homodimer; disulfide-linked. SUBCELLULAR LOCATION: Isoform 1: Cell membrane; Single-pass type I membrane protein (Potential). SUBCELLULAR LOCATION: Isoform 2: Secreted (Potential). 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 node and peripheral blood leukocytes. Expressed in the medulla of fetal and newborn thymus. INDUCTION: By phorbol myristate acetate (PMA) and ionomycin. Up- regulated early on T-cells and continues to be expressed into the later phases of T-cell activation. PTM: N-glycosylated. DISEASE: Defects in ICOS are the cause of immunodeficiency common variable type 1 (CVID1) [MIM:607594]. CVID1 is a primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be lo. SIMILARITY: Contains 1 Ig-like V-type (immunoglobulin-like) domain. WEB RESOURCE: Name=ICOSbase; Note=ICOS mutation db; URL="http://bioinf.uta.fi/ICOSbase/"; WEB RESOURCE: Name=GeneReviews; URL="http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ICOS";
Albuminuria Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics.
[PubMed 17903292]
Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
Albuminuria Shih-Jen Hwang et al. BMC medical genetics 2007, A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study., BMC medical genetics.
[PubMed 17903292]
Kidney function traits and TSH are associated with SNPs on the Affymetrix GeneChip Human Mapping 100K SNP set. These data will serve as a valuable resource for replication as more SNPs associated with kidney function and endocrine traits are identified.
celiac disease Hunt, K. A. et al. 2005, A common CTLA4 haplotype associated with coeliac disease, European journal of human genetics. 2005 Apr;13(4):440-4.
[PubMed 15657618]
A common CTLA4 haplotype shows strong association with coeliac disease, and contains multiple alleles reported to affect immunological function. Loss of tolerance to dietary antigens in coeliac disease may be mediated in part by heritable variants in co-signalling genes regulating T-cell responses.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9Y6W8
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
US Server
