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マウス CTLA-4/CD152  遺伝子

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CTLA-4/CD152
MP200096 

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    CTLA-4/CD152 サマリー & タンパク質情報

    CTLA-4/CD152 背景

    遺伝子の概要: This CTLA4 gene is a member of the immunoglobulin superfamily and encodes a protein which transmits an inhibitory signal to T cells. CTLA-4 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 CTLA4 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]
    General information above from NCBI
    サブユニット構造: Homodimer; disulfide-linked. Binds to CD80/B7-1 and CD86/B7.2. {ECO:0000269|PubMed:11279501, ECO:0000269|PubMed:11279502, ECO:0000269|PubMed:21156796}.
    細胞内位置: Cell membrane {ECO:0000269|PubMed:18468488}; Single-pass type I membrane protein {ECO:0000269|PubMed:18468488}. Note=Exists primarily an intracellular antigen whose surface expression is tightly regulated by restricted trafficking to the cell surface and rapid internalisation;.
    組織特異性: Widely expressed with highest levels in lymphoid tissues. Detected in activated T-cells where expression levels are 30- to 50-fold less than CD28, the stimulatory coreceptor, on the cell surface following activation. {ECO:0000269|PubMed:10493833, ECO:0000269|PubMed:16551244, ECO:0000269|PubMed:1713603}.
    翻訳後: N-glycosylation is important for dimerization. {ECO:0000269|PubMed:11279502, ECO:0000269|PubMed:16002699, ECO:0000269|PubMed:21156796}.; Phosphorylation at Tyr-201 prevents binding to the AP-2 adapter complex, blocks endocytosis, and leads to retention of CTLA4 on the cell surface. {ECO:0000269|PubMed:10842319, ECO:0000269|PubMed:9175836, ECO:0000269|PubMed:9813138}.
    疾患関連性: DISEASE: Systemic lupus erythematosus (SLE) [MIM:152700]: 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. {ECO:0000269|PubMed:15138458, ECO:0000269|PubMed:15688186}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Note=Genetic variations in CTLA4 may influence susceptibility to Graves disease, an autoimmune disorder associated with overactivity of the thyroid gland and hyperthyroidism.; DISEASE: Diabetes mellitus, insulin-dependent, 12 (IDDM12) [MIM:601388]: 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. {ECO:0000269|PubMed:9259273}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Celiac disease 3 (CELIAC3) [MIM:609755]: 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. {ECO:0000269|PubMed:10189842, ECO:0000269|PubMed:15657618}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.; DISEASE: Autoimmune lymphoproliferative syndrome 5 (ALPS5) [MIM:616100]: 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. {ECO:0000269|PubMed:25213377, ECO:0000269|PubMed:25329329}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    シーケンスの類似性: Contains 1 Ig-like V-type (immunoglobulin-like) domain. {ECO:0000305}.
    General information above from UniProt

    Cytotoxic T-lymphocyte protein 4, also known as CTLA4 and CD152, is a single-pass type I membrane protein and a member of the immunoglobulin superfamily. It is the second member of the CD28 receptor family. The ligands or counterreceptors for these two proteins are the B7 family members, CD80 (B7-1) and CD86 (B7-2). CTLA4 transmits an inhibitory signal to T cells, whereas CD28 transmits a stimulatory signal. Intracellular CTLA4 is also found in regulatory T cells and may play an important role in their functions. CD152 or cytotoxic T lymphocyte antigen-4 (CTLA-4) is an essential receptor involved in the negative regulation of T cell activation. Because of its profound inhibitory role, CD152 has been considered a sound susceptible candidate in autoimmunity and a persuasive target for cancer immunotherapy. In particular, recent evidence suggests that CD152 is also important in the homeostasis and function of a population of suppressive cells, termed regulatory T cells (Treg).

    Immune Checkpoint
    Immune Checkpoint Detection: Antibodies   Immune Checkpoint Detection: ELISA Antibodies   Immune Checkpoint Detection: IP Antibodies   Immune Checkpoint Detection: WB Antibodies
    Immune Checkpoint Proteins   CTLA4 / CD152 Immune Checkpoint Proteins
    Immune Checkpoint Targets   Co-inhibitory Immune Checkpoint Targets

    Immunotherapy   Cancer Immunotherapy   Targeted Therapy

    CTLA-4/CD152 代替名

    ALPS5, []
    CD,GSE,GRD4,ALPS5,CD152,CTLA-4,IDDM12,CELIAC3, [homo-sapiens]
    ICOS,CD,CD152,CELIAC3,CTLA4,CTLA-4,GRD4,GSE,IDDM12, [human]
    Cd152,CH29-120A16.2,Ctla4,Ctla-4,Ly-56, [mouse]
    Cd152,Ly-56,Ctla-4, [mus-musculus]

    CTLA-4/CD152 関連研究

  • Slavik JM, et al. (1999) CD28/CTLA-4 and CD80/CD86 families: signaling and function. Immunol Res. 19(1): 1-24.
  • Holmberg D, et al. (2005) CTLA-4 (CD152) and its involvement in autoimmune disease. Autoimmunity. 38(3): 225-33.
  • Chin LT, et al. (2008) Immune intervention with monoclonal antibodies targeting CD152 (CTLA-4) for autoimmune and malignant diseases. Chang Gung Med J. 31(1): 1-15.
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