CTLA4 gene

cytotoxic T-lymphocyte associated protein 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. 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. [provided by RefSeq, Jul 2008]

From UniProt:

Inhibitory receptor acting as a major negative regulator of T-cell responses. The affinity of CTLA4 for its natural B7 family ligands, CD80 and CD86, is considerably stronger than the affinity of their cognate stimulatory coreceptor CD28.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Systemic lupus erythematosus
  • Diabetes mellitus, insulin-dependent, 12
  • Autoimmune lymphoproliferatiVe syndrome, type V
  • Celiac disease 3
  • Hashimoto thyroiditis

From UniProt:

Autoimmune lymphoproliferative syndrome 5 (ALPS5): An autosomal dominant primary immunodeficiency characterized by severe autoimmunity, infiltration of non-lymphoid organs, such as the intestine, lungs and brain, by hyperactive T cells and B cells, autoimmune cytopenias, and hypogammaglobulinemia in early childhood. [MIM:616100]

Systemic lupus erythematosus (SLE): A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. [MIM:152700]

Genetic variations in CTLA4 may influence susceptibility to Graves disease, an autoimmune disorder associated with overactivity of the thyroid gland and hyperthyroidism.

Celiac disease 3 (CELIAC3): A multifactorial, chronic disorder of the small intestine caused by intolerance to gluten. It is characterized by immune-mediated enteropathy associated with failed intestinal absorption, and malnutrition. In predisposed individuals, the ingestion of gluten-containing food such as wheat and rye induces a flat jejunal mucosa with infiltration of lymphocytes. [MIM:609755]

Diabetes mellitus, insulin-dependent, 12 (IDDM12): A multifactorial disorder of glucose homeostasis that is characterized by susceptibility to ketoacidosis in the absence of insulin therapy. Clinical features are polydipsia, polyphagia and polyuria which result from hyperglycemia-induced osmotic diuresis and secondary thirst. These derangements result in long-term complications that affect the eyes, kidneys, nerves, and blood vessels. [MIM:601388]

Cytogenetic Location: 2q33.2, which is the long (q) arm of chromosome 2 at position 33.2

Molecular Location: base pairs 203,867,771 to 203,873,965 on chromosome 2 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 2q33.2, which is the long (q) arm of chromosome 2 at position 33.2
  • ALPS5
  • CD
  • CD152
  • CTLA-4
  • GRD4
  • GSE
  • IDDM12