CTLA4

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]

Description

cytotoxic T-lymphocyte-associated protein 4

Protein family

CD markers, Disease related genes, FDA approved drug targets, Mapped to UniProt SWISS-PROT, Predicted intracellular proteins, Predicted membrane proteins, Predicted secreted proteins

Chromosome

2:q33.2 (203867786 - 203873960)

Ensembl ID

ENSG00000163599  (ver. 84.38)

Orthologs

Mouse Ctla4: ENSMUSG00000026011

UniProt

P16410

neXtProt

NX_P16410

Human splice variants
Mouse splice variants