GeneID: 234


Common Name: CTLA4 Type: Gene
Chromosome: 2 (NC_000002.12) Locus: NG_011502.1 (CTLA4)
HUGO Symbol: CTLA4 Full Name: cytotoxic T-lymphocyte associated protein 4
Exons: 4 Introns: 3

The CTLA-4 gene is a member of the immunoglobulin superfamily. It is expressed nearly exclusively on the membrane of activated T-cells and plays an important role in the regulation of T-cell immune responses by mediating inhibition of T cell activation. The protein contains a V domain, a transmembrane domain, and a cytoplasmic tail. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The membrane-bound isoform functions as a homodimer interconnected by a disulfide bond, while the soluble isoform functions as a monomer. Mutations in this gene have been associated with insulin-dependent diabetes mellitus, Graves disease, Hashimoto thyroiditis, celiac disease, systemic lupus erythematosus, thyroid-associated orbitopathy, and other autoimmune diseases. Moreover, a polymorphism in this gene associated with red blood cell alloimmunization among sickle cell disease patients, highlighting a role played by CTLA-4 on post-transfusion antibody development.

Synonyms: CD , GSE , GRD4 , ALPS5 , CD152 , CTLA-4 , IDDM12 , CELIAC3


Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage.

Publications / Origin

  1. McCoy KD, Le Gros G, The role of CTLA-4 in the regulation of T cell immune responses., Immunol. Cell Biol. , 77(1), 1-10, 1999 PubMed
  2. Oliveira VB, Dezan MR, Gomes FCA, Menosi Gualandro SF, Krieger JE, Pereira AC, Marsiglia JD, Levi JE, Rocha V, Mendrone-Junior A, Sabino EC, Dinardo CL, -318C/T polymorphism of the CTLA-4 gene is an independent risk factor for RBC alloimmunization among sickle cell disease patients., Int. J. Immunogenet. , 2017 PubMed
Created on 2017-09-06 17:54:02, Last reviewed on (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.