Preferred Name | HNF4A gene | |
Synonyms |
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Definitions |
The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012] |
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ID |
http://www.drugtargetontology.org/dto/DTO_00217549 |
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definition |
The protein encoded by this gene is a nuclear transcription factor which binds DNA as a homodimer. The encoded protein controls the expression of several genes, including hepatocyte nuclear factor 1 alpha, a transcription factor which regulates the expression of several hepatic genes. This gene may play a role in development of the liver, kidney, and intestines. Mutations in this gene have been associated with monogenic autosomal dominant non-insulin-dependent diabetes mellitus type I. Alternative splicing of this gene results in multiple transcript variants encoding several different isoforms. [provided by RefSeq, Apr 2012] |
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entrez_xref |
3172 |
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geneSymbol |
HNF4A |
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geneSynonym |
HNF4 NR2A1 TCF14 |
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label |
HNF4A gene |
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prefixIRI |
dto:DTO_00217549 |
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prefLabel |
HNF4A gene |
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subClassOf |
Delete | Mapping To | Ontology | Source |
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http://purl.bioontology.org/ontology/LNC/LP185371-4 | LOINC | LOOM | |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C201741 | NCIT | LOOM |