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Gene Symbol |
SH2B3 |
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Aliases |
IDDM20, LNK |
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Entrez Gene ID |
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Gene Name |
SH2B adaptor protein 3 |
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Chromosomal Location |
12q24.12 |
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HGNC ID |
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Summary |
This gene encodes a member of the SH2B adaptor family of proteins, which are involved in a range of signaling activities by growth factor and cytokine receptors. The encoded protein is a key negative regulator of cytokine signaling and plays a critical role in hematopoiesis. Mutations in this gene have been associated with susceptibility to celiac disease type 13 and susceptibility to insulin-dependent diabetes mellitus. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2014]
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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 |
SH2B adapter protein 3, lymphocyte-specific adapter protein Lnk, signal transduction protein Lnk |
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Function |
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Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase. |
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UniProt |
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Interactions |
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| STRING |
MINT |
IntAct |
| ENSP00000368727 |
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P47989 |
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View interactions
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Associated Diseases
| Disease group | Disease Name | References |
| Blood Disorders |
| Thrombocytopenia |
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| Myelofibrosis |
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| Cardiovascular Diseases |
| Arteriosclerosis |
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| Myocardial Infarction |
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| Coronary heart disease |
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| Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| Tetralogy of Fallot |
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| Digestive System Diseases |
| Biliary Cirrhosis |
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| Inflammatory Bowel Diseases |
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| Crohn Disease |
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| Cholangitis |
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| Colitis |
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| Endocrine System Diseases |
| Diabetes Mellitus |
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| Hypothyroidism |
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| PCOS |
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| Immune System Diseases |
| Autoimmune Hepatitis |
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| Lupus Erythematosus |
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| Libman-Sacks Disease |
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| Musculoskeletal Diseases |
| Spondylitis |
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| Neoplasms |
| Hematologic Neoplasms |
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| Colorectal Cancer |
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| Leukemia |
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| Endometrial Cancer |
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| Nervous System Diseases |
| Stroke |
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| Nutritional and Metabolic Diseases |
| Celiac Disease |
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| Psychiatric/Brain disorders |
| Obstructive Sleep Apnea |
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| Skin and Connective Tissue Diseases |
| Psoriasis |
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| Vitiligo |
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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 |
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Rotterdam criteria |
Related
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31 women with PCOS & 7 control |
Our findings show that Lnk expression is increased in IR-PCOS ovarian tissues compared with control group. Lnk expression is closely related to insulin levels, HOMA-IR, BMI, and WHR. Overexpression of Lnk could inhibit the insulin response PI3K-AKT and MAPK-ERK1/2 signaling pathways in ovarian granulosa cells |
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