Hepatocyte Nuclear Factor 1-Beta

Preferred Label : Hepatocyte Nuclear Factor 1-Beta;

NCIt synonyms : VHNF1; TCF-2; Variant Hepatic Nuclear Factor 1; HNF-1 Beta; Homeoprotein LFB3; HNF-1B; Transcription Factor 2; Hepatic Nuclear Factor-1-Beta; Hepatocyte Nuclear Factor-1-Beta; Hepatocyte Nuclear Factor 1 Beta;

NCIt definition : Hepatocyte nuclear factor 1-beta (557 aa, 61 kDa) is encoded by the human HNF1B gene. This protein is a liver-specific transcription factor. Truncated forms of the protein are involved in the pathology of maturity-onset of diabetes, type 5.;

Details

Origin ID

C70999;

UMLS CUI

C1447070;

Currated CISMeF NLP mapping
- hepatocyte nuclear factor 1-beta [MeSH Descriptor]
- hepatocyte nuclear factor 1-beta [MeSH concept]
OMIM relation
- Hnf1 homeobox b [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- HNF1B protein, human [MeSH Supplementary Concept]
- HNF1B protein, human [MeSH concept]
- hepatocyte nuclear factor 1-beta [MeSH concept]
- hepatocyte nuclear factor 1-beta [MeSH Descriptor]
gene_encodes_gene_product
- HNF1B Gene [NCIt concept]
- Regulatory Gene [NCIt concept]
- Transcription Factor Gene [NCIt concept]
- Transcription Regulation Gene [NCIt concept]
gene_product_has_associated_anatomy
- Nucleus [NCIt concept]
gene_product_has_biochemical_function
- DNA Binding Protein [NCIt concept]
gene_product_has_structural_domain_or_motif
- Homeo Domain [NCIt concept]
gene_product_is_element_in_pathway
- Maturity Onset Diabetes of the Young Pathway [NCIt concept]
- Type II Diabetes Mellitus Pathway [NCIt concept]
gene_product_plays_role_in_biological_process
- DNA Binding [NCIt concept]
- Organogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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