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Gene Symbol |
CD9 |
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Aliases |
BTCC-1, DRAP-27, MIC3, MRP-1, TSPAN-29, TSPAN29 |
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Entrez Gene ID |
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Gene Name |
CD9 molecule |
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Chromosomal Location |
12p13.31 |
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HGNC ID |
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Summary |
This gene encodes a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Tetraspanins are cell surface glycoproteins with four transmembrane domains that form multimeric complexes with other cell surface proteins. The encoded protein functions in many cellular processes including differentiation, adhesion, and signal transduction, and expression of this gene plays a critical role in the suppression of cancer cell motility and metastasis. [provided by RefSeq, Jan 2011]
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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 |
CD9 antigen, 5H9 antigen, BA-2/p24 antigen, CD9 antigen (p24), antigen CD9, cell growth-inhibiting gene 2 protein, leukocyte antigen MIC3, motility related protein-1, tetraspanin-29 |
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Function |
Integral membrane protein associated with integrins, which regulates different processes, such as sperm-egg fusion, platelet activation and aggregation, and cell adhesion (PubMed:8478605, PubMed:14575715, PubMed:18541721). Present at the cell surface of oocytes and plays a key role in sperm-egg fusion, possibly by organizing multiprotein complexes and the morphology of the membrane required for the fusion (By similarity). In myoblasts, associates with CD81 and PTGFRN and inhibits myotube fusion during muscle regeneration (By similarity). In macrophages, associates with CD81 and beta-1 and beta-2 integrins, and prevents macrophage fusion into multinucleated giant cells specialized in ingesting complement-opsonized large particles (PubMed:12796480). Also prevents the fusion between mononuclear cell progenitors into osteoclasts in charge of bone resorption (By similarity). Acts as a receptor for PSG17 (By similarity). Involved in platelet activation and aggregation (PubMed:18541721). Regulates paranodal junction formation (By similarity). Involved in cell adhesion, cell motility and tumor metastasis |
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UniProt |
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Pfam |
Pfam Accession |
Pfam ID |
PF00335 |
Tetraspanin |
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Interactions |
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STRING |
MINT |
IntAct |
ENSP00000371958 |
P21926 |
P21926 |
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View interactions
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Associated Diseases
Disease group | Disease Name | References |
Blood Disorders |
Myelofibrosis |
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Lymphadenitis |
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Thrombocytopenia |
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Kawasaki disease |
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Myelodysplastic Syndrome |
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Haemostasis |
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Bernard Soulier Syndrome |
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Cardiovascular Diseases |
Atherosclerosis |
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Cardiovascular Abnormalities |
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Vascular Diseases |
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Cardiomyopathy |
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Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
Coffin-Lowry Syndrome |
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Digestive System Diseases |
Periodontitis |
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Liver Diseases |
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Hepatitis |
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Endocrine System Diseases |
PCOS |
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Diabetes Mellitus |
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Immune System Diseases |
HIV Infections |
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SCID |
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Autoimmune Diseases |
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Granulomatous Disease |
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Pemphigus |
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Immunodeficiency |
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Allergic rhinitis |
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Autoimmune Diabetes |
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Rheumatoid Arthritis |
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Macroglobulinemia |
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Musculoskeletal Diseases |
Osteoarthritis |
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Neoplasms |
Neuroblastoma |
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Thyroid Cancer |
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Lung Cancer |
8478605, 9133457, 9552043, 8521390, 29884309, 21206492, 10327061, 12569360, 11751509, 9508191, 20940407, 8926405, 8620488 |
Prostate cancer |
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Breast Cancer |
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Squamous Cell Carcinoma |
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Leukemia |
29286918, 26320102, 30315692, 27150985, 8180600, 8486348, 10792502, 3128036, 2673548, 7657811, 9823952, 1390240, 7678118, 8236164, 18457262, 8760289, 1840589, 2364164, 2651812, 1856155, 3134042, 1861531, 1995093, 2137931, 19318447, 24257300, 1911341, 2952260, 8353275, 2785956, 1726144 |
Glioma |
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Multiple Myeloma |
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Bladder Cancer |
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Renal Cancer |
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Gastric Cancer |
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Barrett Esophagus |
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Liver Cancer |
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Sarcoma |
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Hematopoietic Neoplasms |
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Ovarian Cancer |
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Colonic Neoplasms |
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Endometrial Cancer |
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Glioblastoma |
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Skin Cancer |
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Mesothelioma |
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Prostate Carcinoma |
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Oral Leukoplakia |
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Pancreatic Neoplasm |
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Choriocarcinoma |
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Gastrointestinal Cancer |
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Bone Neoplasms |
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Osteosarcoma |
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Myeloid Leukemia |
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Salivary Gland Neoplasms |
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Teratomas |
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Adenocarcinoma Of Pancreas |
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Lymphangioma |
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Uterine Fibroids |
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Cervical Cancer |
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Hematologic Neoplasms |
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Colorectal Cancer |
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Brain Tumor Polyposis |
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Ovarian Adenocarcinoma |
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Cancer Metastasis |
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Nervous System Diseases |
Demyelinating Diseases |
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Encephalopathies |
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Cerebral Thrombosis |
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Stroke |
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Muscular Dystrophy |
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Psychiatric/Brain disorders |
Anxiety Disorders |
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Mental Depression |
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Renal Disorder |
Ascites |
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Renal Fibrosis |
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Reproductive disorders |
Infertility |
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Endometrial Diseases |
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Prostatic Hyperplasia |
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Endometriosis |
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Male infertility |
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Respiratory Tract Diseases |
Chronic Obstructive Pulmonary Disease |
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Pulmonary Fibrosis |
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Pulmonary Tuberculosis |
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Lung Diseases |
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Asthma |
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References |
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PubMed ID |
Associated gene/s |
Associated condition |
Genetic Mutation |
Diagnostic Criteria |
Association with PCOS |
Ethnicity |
Conclusion |
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PCOS, Lipid and Steroid metabolism |
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Rotterdam Criteria |
Direct
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79 PCOs patients and 93 controls |
The results of qPCR showed that the expression of related genes were in accordance with the RNA-seq analysis results. |
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