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This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
[中文简述(自动翻译):]  该基因编码的DNA错配修复mutS的家庭中的一员。在大肠杆菌中,mutS的蛋白质及其修理之前有助于识别错配的核苷酸。约150个氨基酸的高度保守的区域,称为沃克-A腺嘌呤核苷酸结合母题,存在于mutS的同系物。与MSH2编码的蛋白质杂二,形成用作双向分子开关,交流ADP和ATP的DNA不匹配的约束和分离不匹配识别复杂。在这个基因的突变可能与遗传性非息肉性结肠癌,结肠直肠癌,子宫内膜癌有关。成绩单变种编码不同同种型有效值已经描述。 [由RefSeq的,2013年7月提供]
MSH6基因(以及对应的蛋白质)的细胞分布位置:
MSH6基因的本体(GO)信息:
疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
Turcot syndrome (disorder) | 0.363800186 | 14 | 2 | BeFree_CLINVAR_CTD_human_ORPHANET |
Hereditary Nonpolyposis Colorectal Cancer | 0.277111592 | 129 | 177 | BeFree_CLINVAR_GAD_ORPHANET |
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 | 0.24 | 3 | 11 | CLINVAR_UNIPROT |
Hereditary Nonpolyposis Colorectal Neoplasms | 0.152200689 | 18 | 0 | CTD_human_GAD_LHGDN |
Endometrial Carcinoma | 0.143040222 | 52 | 4 | BeFree_CLINVAR_GAD |
Endometrial Neoplasms | 0.134916828 | 7 | 0 | CTD_human_GAD_LHGDN |
Microsatellite Instability | 0.124734064 | 3 | 0 | CTD_human_GAD |
Torre-Muir syndrome | 0.121628651 | 6 | 0 | BeFree_ORPHANET |
Neoplastic Syndromes, Hereditary | 0.120542884 | 2 | 86 | BeFree_CLINVAR |
Colorectal cancer, hereditary nonpolyposis, type 1 | 0.120271442 | 1 | 4 | BeFree_CLINVAR |
IGA Glomerulonephritis | 0.12 | 1 | 0 | CTD_human |
Peripheral Neuropathy | 0.12 | 1 | 0 | CTD_human |
Adenocarcinoma of lung (disorder) | 0.12 | 1 | 0 | CTD_human |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 | 0.12 | 0 | 0 | CTD_human |
Colorectal Cancer | 0.101986792 | 109 | 0 | BeFree_GAD |
Colorectal Neoplasms | 0.029981665 | 15 | 0 | BeFree_GAD_LHGDN |
Colorectal Carcinoma | 0.021443908 | 79 | 0 | BeFree |
Colonic Neoplasms | 0.01581703 | 8 | 0 | BeFree_GAD_LHGDN |
Malignant neoplasm of breast | 0.015363904 | 16 | 30 | BeFree_GAD |
Malignant neoplasm of urinary bladder | 0.010011012 | 5 | 0 | BeFree_GAD |
Malignant neoplasm of endometrium | 0.009229024 | 34 | 3 | BeFree |
Uterine Corpus Cancer | 0.009229024 | 34 | 3 | BeFree |
Adenocarcinoma | 0.007729856 | 4 | 0 | BeFree_GAD_LHGDN |
Malignant neoplasm of ovary | 0.007448483 | 11 | 0 | BeFree_GAD |
Pancreatic Neoplasm | 0.007101096 | 3 | 0 | GAD |
Malignant neoplasm of prostate | 0.006905599 | 10 | 1 | BeFree_GAD |
Malignant tumor of colon | 0.005971721 | 22 | 12 | BeFree |
Colon Carcinoma | 0.005157396 | 19 | 12 | BeFree |
Malignant neoplasm of lung | 0.005005506 | 3 | 0 | BeFree_GAD |
Carcinogenesis | 0.004071628 | 15 | 0 | BeFree |
Adenomatous Polyposis Coli | 0.003995683 | 7 | 2 | BeFree_GAD |
Malignant neoplasm of stomach | 0.003724241 | 5 | 0 | BeFree_GAD |
Multiple polyps | 0.003528744 | 13 | 1 | BeFree |
Breast Carcinoma | 0.003528744 | 13 | 30 | BeFree |
Rheumatoid Arthritis | 0.003267234 | 2 | 0 | BeFree_LHGDN |
Ovarian Carcinoma | 0.002714419 | 10 | 0 | BeFree |
Epithelial ovarian cancer | 0.002638474 | 2 | 0 | BeFree_GAD |
Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
Adenoma | 0.002171535 | 8 | 2 | BeFree |
Glioblastoma | 0.002171535 | 8 | 0 | BeFree |
Prostate carcinoma | 0.002171535 | 8 | 1 | BeFree |
Brain Neoplasms | 0.001357209 | 5 | 0 | BeFree |
Rectal Carcinoma | 0.001357209 | 5 | 0 | BeFree |
Glioma | 0.001085767 | 4 | 0 | BeFree |
Lymphoma | 0.001085767 | 4 | 0 | BeFree |
Malignant neoplasm of gastrointestinal tract | 0.001085767 | 4 | 0 | BeFree |
Tumor Progression | 0.000814326 | 3 | 0 | BeFree |
Sebaceous Adenocarcinoma | 0.000814326 | 3 | 0 | BeFree |
Malignant neoplasm of pancreas | 0.000814326 | 3 | 1 | BeFree |
Stomach Carcinoma | 0.000814326 | 3 | 0 | BeFree |
Exanthema | 0.000542884 | 2 | 0 | BeFree |
Fanconi Anemia | 0.000542884 | 2 | 0 | BeFree |
Adult T-Cell Lymphoma/Leukemia | 0.000542884 | 2 | 0 | BeFree |
Medulloblastoma | 0.000542884 | 2 | 0 | BeFree |
Neoplasm Metastasis | 0.000542884 | 2 | 0 | BeFree |
Neurofibromatosis 1 | 0.000542884 | 2 | 0 | BeFree |
Germ cell tumor | 0.000542884 | 2 | 0 | BeFree |
Anaplastic Oligodendroglioma | 0.000542884 | 2 | 0 | BeFree |
Adenocarcinoma of colon | 0.000542884 | 2 | 0 | BeFree |
Pituitary carcinoma | 0.000542884 | 2 | 0 | BeFree |
Malignant Glioma | 0.000542884 | 2 | 0 | BeFree |
Carcinoma of bladder | 0.000542884 | 2 | 0 | BeFree |
Spots on skin | 0.000542884 | 2 | 0 | BeFree |
Polyp of large intestine | 0.000542884 | 2 | 2 | BeFree |
Hereditary Malignant Neoplasm | 0.000542884 | 2 | 0 | BeFree |
Rash and Dermatitis Adverse Event Associated with Chemoradiation | 0.000542884 | 2 | 0 | BeFree |
Glioblastoma Multiforme | 0.000542884 | 2 | 0 | BeFree |
MUTYH-Associate Polyposis | 0.000542884 | 2 | 0 | BeFree |
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 0.000542884 | 2 | 0 | BeFree |
Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
Noninfiltrating Intraductal Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Mucinous Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
Renal Cell Carcinoma | 0.000271442 | 1 | 0 | BeFree |
Squamous cell carcinoma | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Transitional Cell | 0.000271442 | 1 | 0 | BeFree |
Congenital chromosomal disease | 0.000271442 | 1 | 0 | BeFree |
Crohn Disease | 0.000271442 | 1 | 0 | BeFree |
Endometriosis | 0.000271442 | 1 | 0 | BeFree |
Intestinal Neoplasms | 0.000271442 | 1 | 0 | BeFree |
keratoacanthoma | 0.000271442 | 1 | 0 | BeFree |
Leukemia, Lymphocytic, Acute, L1 | 0.000271442 | 1 | 0 | BeFree |
Leukemia, T-Cell | 0.000271442 | 1 | 0 | BeFree |
Leukopenia | 0.000271442 | 1 | 1 | BeFree |
Lung Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Lymphoma, Non-Hodgkin | 0.000271442 | 1 | 0 | BeFree |
melanoma | 0.000271442 | 1 | 0 | BeFree |
Neutropenia | 0.000271442 | 1 | 1 | BeFree |
oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
Peutz-Jeghers Syndrome | 0.000271442 | 1 | 0 | BeFree |
Pituitary Adenoma | 0.000271442 | 1 | 0 | BeFree |
polyps | 0.000271442 | 1 | 2 | BeFree |
Precancerous Conditions | 0.000271442 | 1 | 0 | BeFree |
Prolactinoma | 0.000271442 | 1 | 0 | BeFree |
Sebaceous Gland Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Skin lesion | 0.000271442 | 1 | 0 | BeFree |
Atrial myxoma | 0.000271442 | 1 | 0 | BeFree |
Sarcoma, Clear Cell | 0.000271442 | 1 | 0 | BeFree |
Adenomatous Polyps | 0.000271442 | 1 | 0 | BeFree |
Carcinoma, Endometrioid | 0.000271442 | 1 | 0 | BeFree |
Mucosa-Associated Lymphoid Tissue Lymphoma | 0.000271442 | 1 | 0 | BeFree |
Metastatic melanoma | 0.000271442 | 1 | 0 | BeFree |
Cancer of Head and Neck | 0.000271442 | 1 | 0 | BeFree |
Hyperplastic Polyp | 0.000271442 | 1 | 2 | BeFree |
Hamartomatous polyp | 0.000271442 | 1 | 0 | BeFree |
Gliomatosis cerebri | 0.000271442 | 1 | 0 | BeFree |
Breast Cancer, Familial | 0.000271442 | 1 | 0 | BeFree |
Gastric lymphoma | 0.000271442 | 1 | 0 | BeFree |
Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
invasive cancer | 0.000271442 | 1 | 0 | BeFree |
Well Differentiated Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
Advanced cancer | 0.000271442 | 1 | 0 | BeFree |
Atypical adenoma | 0.000271442 | 1 | 0 | BeFree |
Adenocarcinoma of large intestine | 0.000271442 | 1 | 0 | BeFree |
Sebaceous adenoma | 0.000271442 | 1 | 0 | BeFree |
Mammary Neoplasms | 0.000271442 | 1 | 0 | BeFree |
Hepatocarcinogenesis | 0.000271442 | 1 | 0 | BeFree |
Glucocorticoid Receptor Deficiency | 0.000271442 | 1 | 0 | BeFree |
Triple Negative Breast Neoplasms | 0.000271442 | 1 | 10 | BeFree |
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