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H.sapiens
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Details of MLH1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| MLH1 | COCA2 | P40692 | MLH1_HUMAN | 4292 | ENSG00000076242 | DNA mismatch repair protein Mlh1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Hereditary non-polyposis colorectal cancer 2 (HNPCC2) [MIM:609310]: An autosomal dominant disease associated with marked increase in cancer susceptibility. It is characterized by a familial predisposition to early-onset colorectal carcinoma (CRC) and extra-colonic tumors of the gastrointestinal, urological and female reproductive tracts. HNPCC is reported to be the most common form of inherited colorectal cancer in the Western world. Clinically, HNPCC is often divided into two subgroups. Type I is characterized by hereditary predisposition to colorectal cancer, a young age of onset, and carcinoma observed in the proximal colon. Type II is characterized by increased risk for cancers in certain tissues such as the uterus, ovary, breast, stomach, small intestine, skin, and larynx in addition to the colon. Diagnosis of classical HNPCC is based on the Amsterdam criteria: 3 or more relatives affected by colorectal cancer, one a first degree relative of the other two 2 or more generation affected 1 or more colorectal cancers presenting before 50 years of age exclusion of hereditary polyposis syndromes. The term 'suspected HNPCC' or 'incomplete HNPCC' can be used to describe families who do not or only partially fulfill the Amsterdam criteria, but in whom a genetic basis for colon cancer is strongly suspected. Note=The disease is caused by mutations affecting the gene represented in this entry. | 609310 | Mismatch repair cancer syndrome (MMRCS) [MIM:276300]: Autosomal dominant disorder characterized by malignant tumors of the brain associated with multiple colorectal adenomas. Skin features include sebaceous cysts, hyperpigmented and cafe au lait spots. Note=The disease is caused by mutations affecting the gene represented in this entry. | 276300 | Muir-Torre syndrome (MRTES) [MIM:158320]: Rare autosomal dominant disorder characterized by sebaceous neoplasms and visceral malignancy. Note=The disease is caused by mutations affecting the gene represented in this entry. | 158320 | Note=Defects in MLH1 may contribute to lobular carcinoma in situ (LCIS), a non-invasive neoplastic disease of the breast. | 158320 | Endometrial cancer (ENDMC) [MIM:608089]: A malignancy of endometrium, the mucous lining of the uterus. Most endometrial cancers are adenocarcinomas, cancers that begin in cells that make and release mucus and other fluids. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | 608089 | Note=Some epigenetic changes can be transmitted unchanged through the germline (termed 'epigenetic inheritance'). Evidence that this mechanism occurs in humans is provided by the identification of individuals in whom 1 allele of the MLH1 gene is epigenetically silenced throughout the soma (implying a germline event). These individuals are affected by HNPCC but does not have identifiable mutations in MLH1, even though it is silenced, which demonstrates that an epimutation can phenocopy a genetic disease. | 608089 |
Phenotypes
Abnormality of blood and blood-forming tissues, Abnormality of cellular immune system, Abnormality of leukocytes, Abnormality of skin morphology, Abnormality of skin pigmentation, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the astrocytes, Abnormality of the breast, Abnormality of the central nervous system, Abnormality of the gastrointestinal tract, Abnormality of the genitourinary system, Abnormality of the glial cells, Abnormality of the immune system, Abnormality of the integument, Abnormality of the intestine, Abnormality of the large intestine, Abnormality of the nervous system, Abnormality of the skin, All, Astrocytoma, Autosomal dominant inheritance, Autosomal recessive inheritance, Axillary freckling, Basal cell carcinoma, Benign gastrointestinal tract tumors, Benign genitourinary tract neoplasm, Bowel diverticulosis, Breast carcinoma, Cafe-au-lait spot, Colon cancer, Colonic diverticulosis, Duodenal carcinoma, Ependymoma, Freckling, Gastrointestinal carcinoma, Generalized abnormality of skin, Glioma, Hematological neoplasm, Hypermelanotic macule, Hyperpigmentation of the skin, Irregular hyperpigmentation, Leukemia, Localized skin lesion, Lymphoma, Malignant gastrointestinal tract tumors, Malignant genitourinary tract tumor, Malignant neoplasm of the central nervous system, Medulloblastoma, Mode of inheritance, Morphological abnormality of the central nervous system, Neoplasm, Neoplasm by anatomical site, Neoplasm by histology, Neoplasm of striated muscle, Neoplasm of the breast, Neoplasm of the central nervous system, Neoplasm of the colon, Neoplasm of the gastrointestinal tract, Neoplasm of the genitourinary tract, Neoplasm of the large intestine, Neoplasm of the nervous system, Neoplasm of the skin, Neoplasm of the small intestine, Neuroblastic tumors, Neuroblastoma, Phenotypic abnormality, Rhabdomyosarcoma, Sarcoma.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Mlh1 | Mlh1 | mlh-1 | Sp-Mlh1 | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| MLH1 | SPTBN2 | 0.1202631 | MLH1 | SPTBN2 | cpx590 | no | no | no | Novel |