HNF1A wt Allele

Preferred Label : HNF1A wt Allele;

NCIt synonyms : LF-B1, Hepatic Nuclear Factor (HNF1), Albumin Proximal Factor Gene; HNF1; TCF-1; Albumin Proximal Factor Gene; Hepatic Nuclear Factor 1 Gene; Transcription Factor 1, Hepatic Gene; MODY3; HNF-1A; TCF1; IDDM20; Interferon Production Regulator Factor Gene; HNF1 Homeobox A wt Allele; LFB1;

NCIt definition : Human HNF1A wild-type allele is located in the vicinity of 12q22-qter; 12q24.2 and is approximately 25 kb in length. This allele, which encodes hepatocyte nuclear factor 1-alpha protein, is involved in both transcriptional regulation and DNA binding. Mutation of the gene is associated with familial hepatic adenoma, maturity-onset diabetes of the young type 3 and diabetes mellitus insulin-dependent type 20.;

NCIt note : Ensembl and HGNC report the HNF1A gene is located in the vicinity of 12q24.31.;

GenBank Accession Number : M57732;

Details

Origin ID

C97826;

UMLS CUI

C3273648;

Automatic exact mappings (from CISMeF team)
- HNF1 homeobox A [ORDO Gene]
- Hnf1 homeobox a [OMIM gene]
- Maturity-Onset diabetes of the young, type 3 [MeSH Supplementary Concept]
- Maturity-onset diabetes of the young, type 3 [OMIM Phenotype]
- Maturity-onset diabetes of the young, type 3 (disorder) [SNOMED CT concept]
- SH2B adaptor protein 3 [ORDO Gene]
- Transcription factor 7 [OMIM gene]
- Type 1 diabetes mellitus 20 [OMIM Phenotype]
- diabetes mellitus, Insulin-Dependent, 20 [MeSH Supplementary Concept]
- maturity-onset diabetes of the young type 3 [DO Concept]
- type 1 diabetes mellitus 20 [DO Concept]
OMIM relation
- Hnf1 homeobox a [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- HNF1alpha-Inactivated Hepatocellular Adenoma [NCIt concept]
gene_is_element_in_pathway
- ALK Pathway [NCIt concept]
- FOXA2 and FOXA3 Transcription Factor Signaling Pathway [NCIt concept]
- Growth Hormone Signaling Pathway [NCIt concept]
- Maturity Onset Diabetes of the Young Pathway [NCIt concept]
- Notch and Wnt Signaling Pathway [NCIt concept]
- Presenilin Action in Notch and Wnt Signaling Pathways [NCIt concept]
- SRF Activation Pathway [NCIt concept]
- Segmentation Clock Pathway [NCIt concept]
- WNT Signaling Pathway BioCarta [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Glucose Transport Induction [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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