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Details of DICER1 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| DICER1 | DICER,HERNA,KIAA0928 | Q9UPY3 | DICER_HUMAN | 23405 | ENSG00000100697 | Endoribonuclease Dicer | SPROT |
Disease |
Disease |
OMIM id |
Pleuropulmonary blastoma (PPB) [MIM:601200]: A rare pediatric intrathoracic neoplasm. The tumor arises from the lung, pleura, or both, and appears to be purely mesenchymal in phenotype. It lacks malignant epithelial elements, a feature that distinguishes it from the classic adult-type pulmonary blastoma. It arises during fetal lung development and is often part of an inherited cancer syndrome. The tumor contain both epithelial and mesenchymal cells. Early in tumorigenesis, cysts form in lung airspaces, and these cysts are lined with benign-appearing epithelium. Mesenchymal cells susceptible to malignant transformation reside within the cyst walls and form a dense layer beneath the epithelial lining. In a subset of patients, overgrowth of the mesenchymal cells produces a sarcoma, a transition that is associated with a poorer prognosis. Some patients have multilocular cystic nephroma, a benign kidney tumor. Note=The disease is caused by mutations affecting the gene represented in this entry. |
601200 |
Goiter multinodular 1, with or without Sertoli-Leydig cell tumors (MNG1) [MIM:138800]: A common disorder characterized by nodular overgrowth of the thyroid gland. Some individuals may also develop Sertoli-Leydig cell tumors, usually of the ovary. Note=The disease is caused by mutations affecting the gene represented in this entry. |
138800 |
Note=DICER1 mutations have been found in uterine cervix embryonal rhabdomyosarcoma, primitive neuroectodermal tumor, Wilms tumor, pulmonary sequestration and juvenile intestinal polyp (PubMed:21882293). Somatic missense mutations affecting the RNase IIIb domain of DICER1 are common in non-epithelial ovarian tumors. These mutations do not abolish DICER1 function but alter it in specific cell types, a novel mechanism through which perturbation of microRNA processing may be oncogenic (PubMed:22187960). |
138800 |
Phenotypes
Abnormality of metabolism/homeostasis, Abnormality of the endocrine system, Abnormality of the thyroid gland, Abnormality of thyroid morphology, All, Autosomal dominant inheritance, Euthyroid goiter, Euthyroid multinodular goiter, Familial predisposition, Goiter, Mode of inheritance, Neoplasm, Neoplasm by anatomical site, Neoplasm of the endocrine system, Neoplasm of the thyroid gland, Papillary thyroid carcinoma, Phenotypic abnormality, Thyroid carcinoma.