HNF1B wt Allele

Preferred Label : HNF1B wt Allele;

NCIt synonyms : FJHN; HNF1beta; Hepatocyte Nuclear Factor 1 Beta Gene; HNF1 Homeobox B wt Allele; HNF2; LFB3; TCF2; MODY5; VHNF1; TCF2 wt Allele; TCF-2; HPC11; LF-B3; HNF-1B; Hepatocyte Nuclear Factor 2 Gene; Variant Hepatic Nuclear Factor Gene; Transcription Factor 2, Hepatic Gene; Transcription Factor, Liver-Specific Gene;

NCIt definition : Human HNF1B wild-type allele is located within 17cen-q21.3 and is approximately 59 kb in length. This allele, which encodes hepatocyte nuclear factor 1-beta protein, plays a role in the modulation of transcription in hepatocytes. Mutations that add a premature stop codon to the gene are a factor in the occurrence of maturity-onset of diabetes, type 5.;

NCIt note : Two variant transcripts of the HNF1B gene are associated with a decreased risk for type 2 diabetes and a simultaneous increase in risk for prostate cancer. A rare S465R amino acid substitution in the HNF1B gene product may be linked to type 2 diabetes. (NCI Bulletin and OMIM);

GenBank Accession Number : NM_000458;

Details

Origin ID

C70998;

UMLS CUI

C2348633;

Automatic exact mappings (from CISMeF team)
- HNF1 homeobox B [ORDO Gene]
- HNF1B-related autosomal dominant tubulointerstitial kidney disease [ORDO Disease]
- Hnf1 homeobox b [OMIM gene]
- Maturity-onset diabetes of the young, type 5 (disorder) [SNOMED CT concept]
- Pontocerebellar hypoplasia type 11 [ORDO Disease]
- Prostate cancer, hereditary, 11 [OMIM Phenotype]
- Renal cysts and diabetes syndrome [OMIM Phenotype]
- Tubulointerstitial kidney disease, autosomal dominant, 1 [OMIM Phenotype]
- hepatocyte nuclear factor 1-beta [MeSH Descriptor]
- maturity-onset diabetes of the young type 5 [DO Concept]
- renal cysts and diabetes syndrome [MeSH Supplementary Concept]
False automatic mappings
- Familial juvenile hyperuricemic nephropathy type 1 [ORDO Disease]
OMIM relation
- Hnf1 homeobox b [OMIM gene]
See also inter- (CISMeF)
- Familial juvenile hyperuricaemic nephropathy [ICD-11 More detail]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Maturity Onset Diabetes of the Young Pathway [NCIt concept]
- Type II Diabetes Mellitus Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Organogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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