CTLA4, Official Symbol CTLA4provided by HGNC Official Full Name cytotoxic T-lymphocyte associated protein 4provided by HGNC Primary source HGNC:HGNC:2505 See related Ensembl:ENSG00000163599 MIM:123890; AllianceGenome:HGNC:2505 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 CD; GSE; GRD4; ALPS5; CD152; CTLA-4; IDDM12; CELIAC3 Summary 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] Expression Biased expression in lymph node (RPKM 10.3), appendix (RPKM 9.7) and 8 other tissues See more Orthologs mouse all