更多...
收起
This locus is frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was discovered to be a human homolog of the E. coli mismatch repair gene mutS, consistent with the characteristic alterations in microsatellite sequences (RER+ phenotype) found in HNPCC. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2012]
[中文简述(自动翻译):]  这个位点突变频率在遗传性非息肉结肠癌(HNPCC)。当克隆时,被发现是大肠杆菌错配修复基因mutS的的人同源物,与微卫星序列中HNPCC发现的特征的改变(RER +表型)相一致。已发现该基因编码不同亚型的两个转录变异体。 [由RefSeq的,2012年4月提供]
MSH2基因(以及对应的蛋白质)的细胞分布位置:
MSH2基因的本体(GO)信息:
| 疾病名称 | 关系值 | NofPmids | NofSnps | 来源 |
| Torre-Muir syndrome | 0.375220608 | 36 | 2 | BeFree_CLINVAR_CTD_human_LHGDN_ORPHANET |
| Turcot syndrome (disorder) | 0.365157396 | 19 | 6 | BeFree_CLINVAR_CTD_human_ORPHANET |
| Hereditary Nonpolyposis Colorectal Cancer | 0.33183516 | 428 | 423 | BeFree_CLINVAR_GAD_ORPHANET |
| Colorectal cancer, hereditary nonpolyposis, type 1 | 0.32 | 30 | 27 | CLINVAR_MGD_UNIPROT |
| Hereditary Nonpolyposis Colorectal Neoplasms | 0.244973608 | 54 | 0 | CTD_human_GAD_LHGDN |
| Colorectal Neoplasms | 0.201143185 | 41 | 0 | BeFree_CTD_human_GAD_LHGDN |
| Colorectal Cancer | 0.14378884 | 287 | 4 | BeFree_GAD |
| Glioma | 0.123181358 | 4 | 0 | BeFree_CTD_human_GAD |
| Neoplastic Syndromes, Hereditary | 0.121357209 | 5 | 58 | BeFree_CLINVAR |
| Neurofibromatosis 1 | 0.121085767 | 4 | 0 | BeFree_CTD_human |
| ovarian neoplasm | 0.121085767 | 5 | 1 | BeFree_CTD_human |
| Cafe au lait spots, multiple | 0.120271442 | 1 | 0 | BeFree_CTD_human |
| Lynch syndrome I (site-specific colonic cancer) | 0.12 | 1 | 0 | CTD_human |
| Colitis | 0.080542884 | 3 | 0 | BeFree_RGD |
| Seizures | 0.08 | 1 | 0 | RGD |
| Colorectal Carcinoma | 0.063245956 | 233 | 3 | BeFree |
| Endometrial Carcinoma | 0.030640594 | 80 | 5 | BeFree_GAD |
| Endometrial Neoplasms | 0.023546886 | 12 | 0 | BeFree_GAD_LHGDN |
| Colonic Neoplasms | 0.019170141 | 10 | 0 | BeFree_GAD_LHGDN |
| Squamous cell carcinoma | 0.01906052 | 15 | 0 | BeFree_LHGDN |
| melanoma | 0.017521627 | 19 | 0 | BeFree_GAD_LHGDN |
| Malignant neoplasm of breast | 0.016254175 | 28 | 1 | BeFree_GAD |
| Adenocarcinoma | 0.015449781 | 17 | 0 | BeFree_GAD_LHGDN |
| Malignant neoplasm of lung | 0.014006695 | 12 | 2 | BeFree_GAD |
| Malignant tumor of colon | 0.013843535 | 51 | 11 | BeFree |
| Lymphoma, Non-Hodgkin | 0.01372144 | 4 | 1 | BeFree_GAD_LHGDN |
| Stomach Neoplasms | 0.012907115 | 5 | 0 | GAD_LHGDN |
| Malignant neoplasm of ovary | 0.012062995 | 29 | 0 | BeFree_GAD |
| Malignant neoplasm of stomach | 0.01198705 | 19 | 0 | BeFree_GAD |
| Malignant neoplasm of endometrium | 0.011943442 | 44 | 4 | BeFree |
| Uterine Corpus Cancer | 0.011943442 | 44 | 4 | BeFree |
| Colon Carcinoma | 0.011129117 | 41 | 11 | BeFree |
| Malignant neoplasm of urinary bladder | 0.011096779 | 9 | 0 | BeFree_GAD |
| Carcinogenesis | 0.010586233 | 39 | 0 | BeFree |
| Lymphoma | 0.010530151 | 11 | 0 | BeFree_GAD_LHGDN |
| Pancreatic Neoplasm | 0.009825446 | 4 | 0 | GAD_LHGDN |
| Glioblastoma | 0.009801702 | 7 | 0 | BeFree_LHGDN |
| Multiple polyps | 0.009229024 | 34 | 0 | BeFree |
| leukemia | 0.009087065 | 6 | 0 | BeFree_GAD_LHGDN |
| Ovarian Carcinoma | 0.008414698 | 31 | 0 | BeFree |
| Malignant neoplasm of prostate | 0.007719925 | 13 | 1 | BeFree_GAD |
| Liver carcinoma | 0.007262917 | 9 | 0 | BeFree_GAD_LHGDN |
| Microsatellite Instability | 0.007101096 | 3 | 0 | GAD |
| Mammary Neoplasms | 0.006534468 | 6 | 0 | BeFree_LHGDN |
| Breast Carcinoma | 0.006514605 | 24 | 1 | BeFree |
| Adenomatous Polyposis Coli | 0.00643866 | 16 | 0 | BeFree_GAD |
| Brain Neoplasms | 0.00617715 | 6 | 0 | BeFree_GAD_LHGDN |
| Stomach Carcinoma | 0.005700279 | 21 | 0 | BeFree |
| Gastrointestinal Neoplasms | 0.005091382 | 1 | 0 | GAD_LHGDN |
| Head and Neck Neoplasms | 0.005091382 | 2 | 0 | GAD_LHGDN |
| Neoplasm Recurrence, Local | 0.004734064 | 2 | 0 | GAD |
| Sarcoma | 0.004624443 | 8 | 0 | BeFree_LHGDN |
| Neoplasm Metastasis | 0.004353001 | 7 | 0 | BeFree_LHGDN |
| Malignant neoplasm of pancreas | 0.003995683 | 7 | 1 | BeFree_GAD |
| Epithelial ovarian cancer | 0.003995683 | 7 | 0 | BeFree_GAD |
| Carcinoma, Endometrioid | 0.003538676 | 3 | 0 | BeFree_LHGDN |
| Hematologic Neoplasms | 0.003538676 | 3 | 0 | BeFree_LHGDN |
| Adenoma | 0.003528744 | 13 | 0 | BeFree |
| Renal Cell Carcinoma | 0.003452799 | 4 | 0 | BeFree_GAD |
| Crohn Disease | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Esophageal Neoplasms | 0.003267234 | 2 | 0 | BeFree_LHGDN |
| Prostate carcinoma | 0.003257302 | 12 | 1 | BeFree |
| Leukoplakia | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Lung Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Prostatic Neoplasms | 0.002995792 | 2 | 0 | BeFree_LHGDN |
| Cholangiocarcinoma | 0.002995792 | 1 | 0 | BeFree_LHGDN |
| Rectal Carcinoma | 0.002985861 | 11 | 0 | BeFree |
| Non-Small Cell Lung Carcinoma | 0.002985861 | 11 | 0 | BeFree |
| Adenoma of large intestine | 0.002909916 | 3 | 0 | BeFree_GAD |
| Biliary Tract Neoplasm | 0.00272435 | 1 | 0 | LHGDN |
| Breast Diseases | 0.00272435 | 1 | 0 | LHGDN |
| Gastritis | 0.00272435 | 1 | 0 | LHGDN |
| Lymphoproliferative Disorders | 0.00272435 | 1 | 0 | LHGDN |
| Cafe-au-Lait Spots | 0.00272435 | 1 | 0 | LHGDN |
| Stenosis | 0.00272435 | 1 | 0 | LHGDN |
| Genital Neoplasms, Female | 0.002638474 | 2 | 0 | BeFree_GAD |
| Chronic Lymphocytic Leukemia | 0.002638474 | 2 | 0 | BeFree_GAD |
| Lymphoma, Follicular | 0.002638474 | 2 | 0 | BeFree_GAD |
| Meningioma | 0.002638474 | 2 | 0 | BeFree_GAD |
| Diffuse Large B-Cell Lymphoma | 0.002638474 | 2 | 0 | BeFree_GAD |
| polyps | 0.002442977 | 9 | 0 | BeFree |
| Alcoholic Intoxication, Chronic | 0.002367032 | 1 | 0 | GAD |
| Gastritis, Atrophic | 0.002367032 | 1 | 0 | GAD |
| Liver neoplasms | 0.002367032 | 1 | 0 | GAD |
| Chronic Obstructive Airway Disease | 0.002367032 | 1 | 0 | GAD |
| Meningeal Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Acoustic Neuroma | 0.002367032 | 1 | 0 | GAD |
| Rectal Neoplasms | 0.002367032 | 1 | 0 | GAD |
| Tobacco Use Disorder | 0.002367032 | 1 | 0 | GAD |
| Helicobacter Infections | 0.002367032 | 1 | 0 | GAD |
| Neoplasms, Second Primary | 0.002367032 | 1 | 0 | GAD |
| Endometrial Hyperplasia | 0.002171535 | 8 | 0 | BeFree |
| Carcinoma of lung | 0.002171535 | 8 | 2 | BeFree |
| Skin Neoplasms | 0.001900093 | 7 | 0 | BeFree |
| Carcinoma, Transitional Cell | 0.001628651 | 6 | 0 | BeFree |
| Ulcerative Colitis | 0.001628651 | 6 | 0 | BeFree |
| Tumor Progression | 0.001628651 | 6 | 2 | BeFree |
| Pancreatic carcinoma | 0.001628651 | 6 | 1 | BeFree |
| Secondary malignant neoplasm of lymph node | 0.001628651 | 6 | 0 | BeFree |
| Carcinoma of bladder | 0.001628651 | 6 | 0 | BeFree |
| Hereditary Malignant Neoplasm | 0.001628651 | 6 | 0 | BeFree |
| Adenocarcinoma of colon | 0.001357209 | 5 | 0 | BeFree |
| Malignant neoplasm of gastrointestinal tract | 0.001357209 | 5 | 0 | BeFree |
| Precursor Cell Lymphoblastic Leukemia Lymphoma | 0.001357209 | 5 | 0 | BeFree |
| Fanconi Anemia | 0.001085767 | 4 | 0 | BeFree |
| Acute lymphocytic leukemia | 0.001085767 | 4 | 0 | BeFree |
| Sebaceous Adenocarcinoma | 0.001085767 | 4 | 0 | BeFree |
| Multiple tumors | 0.001085767 | 4 | 0 | BeFree |
| Squamous cell carcinoma of esophagus | 0.001085767 | 4 | 0 | BeFree |
| Secondary malignant neoplasm of liver | 0.001085767 | 4 | 0 | BeFree |
| Hereditary Breast and Ovarian Cancer Syndrome | 0.001085767 | 4 | 0 | BeFree |
| Cancer of Urinary Tract | 0.001085767 | 4 | 0 | BeFree |
| Squamous cell carcinoma of the head and neck | 0.001085767 | 4 | 0 | BeFree |
| FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) | 0.001085767 | 4 | 0 | BeFree |
| Mucinous Adenocarcinoma | 0.000814326 | 3 | 0 | BeFree |
| Congenital chromosomal disease | 0.000814326 | 3 | 0 | BeFree |
| Leukemia, Myelocytic, Acute | 0.000814326 | 3 | 0 | BeFree |
| Melanocytic nevus | 0.000814326 | 3 | 0 | BeFree |
| Precancerous Conditions | 0.000814326 | 3 | 0 | BeFree |
| Protein Deficiency | 0.000814326 | 3 | 0 | BeFree |
| Cervix carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Hyperplastic Polyp | 0.000814326 | 3 | 0 | BeFree |
| Malignant Fibrous Histiocytoma | 0.000814326 | 3 | 0 | BeFree |
| Sebaceous adenoma | 0.000814326 | 3 | 0 | BeFree |
| Urothelial Carcinoma | 0.000814326 | 3 | 0 | BeFree |
| Malignant tumor of cervix | 0.000542884 | 2 | 0 | BeFree |
| Intestinal Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| keratoacanthoma | 0.000542884 | 2 | 0 | BeFree |
| Adult T-Cell Lymphoma/Leukemia | 0.000542884 | 2 | 0 | BeFree |
| Lymphatic Metastasis | 0.000542884 | 2 | 0 | BeFree |
| Retinoblastoma | 0.000542884 | 2 | 0 | BeFree |
| Sebaceous Gland Neoplasms | 0.000542884 | 2 | 0 | BeFree |
| Ichthyosis, X-Linked | 0.000542884 | 2 | 0 | BeFree |
| Cutaneous Melanoma | 0.000542884 | 2 | 0 | BeFree |
| Adenocarcinoma of lung (disorder) | 0.000542884 | 2 | 0 | BeFree |
| Esophageal carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of mouth | 0.000542884 | 2 | 0 | BeFree |
| Alveolar Soft Part Sarcoma | 0.000542884 | 2 | 0 | BeFree |
| Medullary carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Gallbladder Carcinoma | 0.000542884 | 2 | 8 | BeFree |
| Cancer of Head and Neck | 0.000542884 | 2 | 0 | BeFree |
| Conventional (Clear Cell) Renal Cell Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Tubular adenoma | 0.000542884 | 2 | 0 | BeFree |
| Intrahepatic Cholangiocarcinoma | 0.000542884 | 2 | 0 | BeFree |
| Malignant neoplasm of esophagus | 0.000542884 | 2 | 0 | BeFree |
| Malignant Glioma | 0.000542884 | 2 | 0 | BeFree |
| invasive cancer | 0.000542884 | 2 | 0 | BeFree |
| Skin carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Advanced cancer | 0.000542884 | 2 | 0 | BeFree |
| Polyp of large intestine | 0.000542884 | 2 | 1 | BeFree |
| Invasive Ductal Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Single tumor | 0.000542884 | 2 | 0 | BeFree |
| Sporadic Breast Carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Epithelioma | 0.000542884 | 2 | 0 | BeFree |
| Renal carcinoma | 0.000542884 | 2 | 0 | BeFree |
| Glioblastoma Multiforme | 0.000542884 | 2 | 0 | BeFree |
| Non-Neoplastic Disorder | 0.000542884 | 2 | 0 | BeFree |
| Precursor T-Cell Lymphoblastic Leukemia-Lymphoma | 0.000542884 | 2 | 0 | BeFree |
| Adrenal Gland Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Rheumatoid Arthritis | 0.000271442 | 1 | 0 | BeFree |
| Astrocytoma | 0.000271442 | 1 | 0 | BeFree |
| Tooth Attrition | 0.000271442 | 1 | 0 | BeFree |
| Barrett Esophagus | 0.000271442 | 1 | 0 | BeFree |
| Bloom Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of skin | 0.000271442 | 1 | 0 | BeFree |
| Endometriosis | 0.000271442 | 1 | 0 | BeFree |
| Fibrosarcoma | 0.000271442 | 1 | 0 | BeFree |
| Fragile X Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Friedreich Ataxia | 0.000271442 | 1 | 0 | BeFree |
| Hematological Disease | 0.000271442 | 1 | 0 | BeFree |
| Herpes Simplex Infections | 0.000271442 | 1 | 0 | BeFree |
| Ischemia | 0.000271442 | 1 | 0 | BeFree |
| Leukemia, T-Cell | 0.000271442 | 1 | 0 | BeFree |
| liposarcoma | 0.000271442 | 1 | 0 | BeFree |
| Liver Cirrhosis | 0.000271442 | 1 | 0 | BeFree |
| Alcoholic Liver Diseases | 0.000271442 | 1 | 0 | BeFree |
| Myelodysplasia | 0.000271442 | 1 | 0 | BeFree |
| Myotonic Dystrophy | 0.000271442 | 1 | 0 | BeFree |
| Degenerative polyarthritis | 0.000271442 | 1 | 0 | BeFree |
| Preleukemia | 0.000271442 | 1 | 0 | BeFree |
| Kidney Failure | 0.000271442 | 1 | 0 | BeFree |
| Seminoma | 0.000271442 | 1 | 0 | BeFree |
| Skin lesion | 0.000271442 | 1 | 0 | BeFree |
| Soft Tissue Neoplasms | 0.000271442 | 1 | 0 | BeFree |
| Thyroid Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Virus Diseases | 0.000271442 | 1 | 0 | BeFree |
| B-Cell Lymphomas | 0.000271442 | 1 | 0 | BeFree |
| Lymphoma, Large-Cell, Follicular | 0.000271442 | 1 | 1 | BeFree |
| Precursor cell lymphoblastic lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Central Nervous System Neoplasms | 0.000271442 | 1 | 2 | BeFree |
| Acute leukemia | 0.000271442 | 1 | 0 | BeFree |
| Emotional Stress | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of lung | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma of rectum | 0.000271442 | 1 | 0 | BeFree |
| Atrial myxoma | 0.000271442 | 1 | 0 | BeFree |
| Idiopathic pulmonary hypertension | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of gallbladder | 0.000271442 | 1 | 8 | BeFree |
| Uterine Cancer | 0.000271442 | 1 | 0 | BeFree |
| Malignant neoplasm of testis | 0.000271442 | 1 | 0 | BeFree |
| Secondary malignant neoplasm of lung | 0.000271442 | 1 | 0 | BeFree |
| Endometriosis of ovary | 0.000271442 | 1 | 0 | BeFree |
| Undifferentiated carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Liposarcoma, Pleomorphic | 0.000271442 | 1 | 0 | BeFree |
| Sarcoma, Clear Cell | 0.000271442 | 1 | 0 | BeFree |
| Adenoma, Villous | 0.000271442 | 1 | 0 | BeFree |
| Adenocarcinoma, Clear Cell | 0.000271442 | 1 | 0 | BeFree |
| childhood brain tumor | 0.000271442 | 1 | 0 | BeFree |
| Lip and Oral Cavity Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Anaplastic thyroid carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Medullary carcinoma of thyroid | 0.000271442 | 1 | 0 | BeFree |
| Carcinoma of ampulla of Vater | 0.000271442 | 1 | 0 | BeFree |
| Stage II Colon Cancer | 0.000271442 | 1 | 0 | BeFree |
| Metastatic melanoma | 0.000271442 | 1 | 0 | BeFree |
| Lobular carcinoma in situ of breast | 0.000271442 | 1 | 0 | BeFree |
| Solid tumour | 0.000271442 | 1 | 0 | BeFree |
| stage, cervical cancer | 0.000271442 | 1 | 0 | BeFree |
| Primary central nervous system lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Non-infiltrating lobular carcinoma | 0.000271442 | 1 | 0 | BeFree |
| Anaplastic Oligodendroglioma | 0.000271442 | 1 | 0 | BeFree |
| Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse | 0.000271442 | 1 | 0 | BeFree |
| Uterine Corpus Sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Breast Cancer, Familial | 0.000271442 | 1 | 0 | BeFree |
| Endometrioid carcinoma ovary | 0.000271442 | 1 | 0 | BeFree |
| Multiple malignancy | 0.000271442 | 1 | 0 | BeFree |
| Atypical Endometrial Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
| Carney Complex | 0.000271442 | 1 | 0 | BeFree |
| Congenital Myotonic Dystrophy | 0.000271442 | 1 | 0 | BeFree |
| Recurrent tumor | 0.000271442 | 1 | 0 | BeFree |
| Duodenal Cancer | 0.000271442 | 1 | 0 | BeFree |
| Ewings sarcoma | 0.000271442 | 1 | 0 | BeFree |
| Squamous cell carcinoma of skin | 0.000271442 | 1 | 0 | BeFree |
| Leukemogenesis | 0.000271442 | 1 | 0 | BeFree |
| Biliary Tract Cancer | 0.000271442 | 1 | 0 | BeFree |
| Familial Retinoblastoma | 0.000271442 | 1 | 0 | BeFree |
| Cerebral Primitive Neuroectodermal Tumor | 0.000271442 | 1 | 0 | BeFree |
| Malignant Squamous Cell Neoplasm | 0.000271442 | 1 | 0 | BeFree |
| Stage I Endometrial Carcinoma | 0.000271442 | 1 | 0 | BeFree |
| cancer recurrence | 0.000271442 | 1 | 0 | BeFree |
| Traditional Serrated Adenoma | 0.000271442 | 1 | 0 | BeFree |
| Precursor T-cell lymphoblastic lymphoma | 0.000271442 | 1 | 0 | BeFree |
| Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome | 0.000271442 | 1 | 0 | BeFree |
| Hereditary Non-Polyposis Colon Cancer Type 2 | 0.000271442 | 1 | 0 | BeFree |
| Testicular Germ Cell Tumor | 0.000271442 | 1 | 0 | BeFree |
| Treatment related acute myeloid leukaemia | 0.000271442 | 1 | 0 | BeFree |
| Rash and Dermatitis Adverse Event Associated with Chemoradiation | 0.000271442 | 1 | 0 | BeFree |
| Renal Insufficiency | 0.000271442 | 1 | 0 | BeFree |
| Benign Prostatic Hyperplasia | 0.000271442 | 1 | 0 | BeFree |
| Sporadic Gastric Adenocarcinoma | 0.000271442 | 1 | 0 | BeFree |
| OUABAIN RESISTANCE | 0.000271442 | 1 | 0 | BeFree |
| Treatment related leukaemia | 0.000271442 | 1 | 0 | BeFree |
| Pancreatic carcinoma, familial | 0.000271442 | 1 | 0 | BeFree |
| Stage II Colon Cancer AJCC v7 | 0.000271442 | 1 | 0 | BeFree |
| Idiopathic pulmonary arterial hypertension | 0.000271442 | 1 | 0 | BeFree |
| MUTYH-Associate Polyposis | 0.000271442 | 1 | 0 | BeFree |
| Triple Negative Breast Neoplasms | 0.000271442 | 1 | 2 | BeFree |
| Sebaceous gland tumors | 0.000271442 | 1 | 0 | BeFree |
忘记密码? 点击找回密码.
扫一扫右方二维码,关注微信订阅号,实时查看信息,关注医学生物学动态。