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Gene Symbol |
CTLA4 |
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Aliases |
ALPS5, CD, CD152, CELIAC3, CTLA-4, GRD4, GSE, IDDM12 |
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Entrez Gene ID |
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Gene Name |
Cytotoxic T-lymphocyte associated protein 4 |
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Chromosomal Location |
2q33.2 |
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HGNC ID |
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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]
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RefSeq DNA |
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RefSeq mRNA |
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e!Ensembl
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| Protein Information |
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Protein Name |
Cytotoxic T-lymphocyte protein 4, CD152 isoform, celiac disease 3, cytotoxic T lymphocyte associated antigen 4 short spliced form, cytotoxic T-lymphocyte-associated serine esterase-4, insulin-dependent diabetes mellitus 12, ligand and transmembrane spliced cytotoxic T lymphocyte associated antigen 4 |
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Function |
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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. |
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UniProt |
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PDB |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000404381 |
Q8TBM8 |
Q8TBM8 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Digestive System Diseases |
| Oral submucosal fibrosis |
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| Ear Or Mastoid Diseases |
| Meniere Disease |
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| Endocrine System Diseases |
| PCOS |
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| Immune System Diseases |
| Rheumatoid Arthritis |
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| Graves Disease |
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| Graft-vs-Host Disease |
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| Still Disease |
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| Juvenile arthritis |
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| CTLA-4 haploinsufficiency |
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| Neoplasms |
| Leukemia |
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| Lymphoma |
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| Nervous System Diseases |
| Neuropathy |
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| Psychiatric/Brain disorders |
| Mental Depression |
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| Schizophrenia |
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| Bipolar Disorder |
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| Reproductive disorders |
| Preeclampsia |
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| Skin and Connective Tissue Diseases |
| Alopecia Areata |
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References |
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| Su Jing, Li Yan, Su Guanglong, Wang Jing, Qiu Ting, Ma Rong, Zhao Lei |
| Department of Gynecology, The First Affiliated Hospital of Xinjiang Medical University.| Department of Gynecology, The First Affiliated Hospital of Xinjiang Medical University.| Department of Clinical Laboratory, Maternal and Child Health Hospital of Urumqi, Urumqi Xinjiang, China.| Department of Gynecology, The First Affiliated Hospital of Xinjiang Medical University.| Department of Gynecology, The First Affiliated Hospital of Xinjiang Medical University.| Department of Gynecology, The First Affiliated Hospital of Xinjiang Medical University.| Department of Gynecology, The First Affiliated Hospital of Xinjiang Medical University. |
| Medicine (Baltimore). 2018 Jul;97(29):e11422. doi: 10.1097/MD.0000000000011422. |
Abstract
The autoimmune and gene etiology are implicated in the pathogenesis of polycystic ovary syndrome (PCOS). The cytotoxic T-lymphocyte-associated antigen 4 (CTLA4) is important for negative regulation of T-cell activation, and CTLA4 gene has been identified as a risk factor for some autoimmune diseases. However, none studies have been performed about the association between PCOS and the CTLA4 gene before. Here, we aimed to investigate the association of CTLA4 with PCOS in the Chinese Han population though a case-control association analysis of 606 individuals. The tagging variants rs733618 and rs231775 in the CTLA4 gene were detected using polymerase chain reaction-denaturing gradient gel electrophoresis method. Further analysis found the rs733618 was significantly different between case and control groups in either genotypic or allelic distribution (P = .01 and .009, respectively) while rs231775 not. Moreover, rs733618 was significantly associated with higher body mass index in the dominant model (P = .003) and with higher waist/hip ratio in the recessive model (P = .02). Interestingly, rs733618 was only found to have significant association with homeostatic model assessment for insulin resistance (HOMA-IR) in both dominant and recessive model (P = .009 and .0065, respectively). This is the first study to investigate the association of CTLA4 gene with PCOS. The CTLA4 gene is suggested to correlated with PCOS, and influence PCOS through regulating obesity and the HOMA-IR in a novel way. |
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