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Details of CTNNB1 gene in Homo sapiens
IDs | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Link outs | Gene Name | Alias | Uniprot ID | SwissProt ID | NCBI gene ID | ENSEMBL ID | Description | Source | |
|
| CTNNB1 | CTNNB, | P35222 | CTNB1_HUMAN | 1499 | ENSG00000168036 | Catenin beta-1 | SPROT | |
Disease | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Disease | OMIM id | ||||||||
| Mesothelioma, malignant (MESOM) [MIM:156240]: An aggressive neoplasm of the serosal lining of the chest. It appears as broad sheets of cells, with some regions containing spindle- shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. Note=The gene represented in this entry may be involved in disease pathogenesis. | 156240 | Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. Note=The gene represented in this entry may be involved in disease pathogenesis. | 114500 | Note=Activating mutations in CTNNB1 have oncogenic activity resulting in tumor development. Somatic mutations are found in various tumor types, including colon cancers, ovarian and prostate carcinomas, hepatoblastoma (HB), hepatocellular carcinoma (HCC). HBs are malignant embryonal tumors mainly affecting young children in the first three years of life. | 114500 | Pilomatrixoma (PTR) [MIM:132600]: Common benign skin tumor. Note=The disease is caused by mutations affecting the gene represented in this entry. | 132600 | Medulloblastoma (MDB) [MIM:155255]: Malignant, invasive embryonal tumor of the cerebellum with a preferential manifestation in children. Note=The gene represented in this entry may be involved in disease pathogenesis. | 155255 | Ovarian cancer (OC) [MIM:167000]: The term ovarian cancer defines malignancies originating from ovarian tissue. Although many histologic types of ovarian tumors have been described, epithelial ovarian carcinoma is the most common form. Ovarian cancers are often asymptomatic and the recognized signs and symptoms, even of late-stage disease, are vague. Consequently, most patients are diagnosed with advanced disease. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry. | 167000 | Note=A chromosomal aberration involving CTNNB1 is found in salivary gland pleiomorphic adenomas, the most common benign epithelial tumors of the salivary gland. Translocation t(38)(p21q12) with PLAG1. | 167000 | Mental retardation, autosomal dominant 19 (MRD19) [MIM:615075]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptative behavior and manifested during the developmental period. MRD19 features include severe intellectual disability with absent or very limited speech, microcephaly, and spasticity which severely impaired the ability to walk. Note=The disease is caused by mutations affecting the gene represented in this entry. | 615075 |
Phenotypes
Abnormal internal genitalia, Abnormality of female internal genitalia, Abnormality of metabolism/homeostasis, Abnormality of the abdomen, Abnormality of the abdominal organs, Abnormality of the breast, Abnormality of the female genitalia, Abnormality of the gastrointestinal tract, Abnormality of the genital system, Abnormality of the genitourinary system, Abnormality of the integument, Abnormality of the liver, Abnormality of the ovary, Abnormality of the skin, All, Autosomal dominant inheritance, Breast carcinoma, Cirrhosis, Genital neoplasm, Gonadal neoplasm, Hepatocellular carcinoma, Heterogeneous, Micronodular cirrhosis, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Neoplasm of the breast, Neoplasm of the gastrointestinal tract, Neoplasm of the genitourinary tract, Neoplasm of the liver, Neoplasm of the skin, Ovarian neoplasm, Ovarian papillary adenocarcinoma, Phenotypic abnormality, Somatic mutation, Subacute progressive viral hepatitis, Viral hepatitis.
Orthologs in other species | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| M. musculus | D. melonogaster | C. elegans | S. purpuratus | ||||||
| Ctnnb1 | arm | hmp-2 | Sp-Ctnnb | ||||||
| Conserved gene 1 |
Conserved gene 2 |
Conserved score |
H. sapiens gene 1 |
H. sapiens gene 2 |
Complex ID | Corum | BioGrid | IRefWeb | Novelty |
|---|---|---|---|---|---|---|---|---|---|
| CTNNA1 | CTNNB1 | 0.867630509 | CTNNA1 | CTNNB1 | cpx264 | yes | yes | yes | Known |
| CTNNA2 | CTNNB1 | 0.983999117 | CTNNA2 | CTNNB1 | cpx264 | no | yes | no | Known |