NKX2-1 wt Allele

Preferred Label : NKX2-1 wt Allele;

NCIt synonyms : TEBP; TTF1; NK-2; NKX2.1; TTF-1; BHC; BCH; NK2 Homeobox 1 wt Allele; NKX2A; TITF1;

NCIt definition : Human NKX2-1 wild-type allele is located in the vicinity of 14q13 and is approximately 4 kb in length. This allele, which encodes thyroid transcription factor 1 protein, is involved in the modulation of transcription for thyroid specific genes and may play a role in lung development. Mutations in the gene are associated with hypothyroidism, neonatal respiratory distress, and both benign hereditary chorea and choreoathetosis.;

NCIt note : The NKX2-1 gene is a candidate proto-oncogene involved in a significant fraction of lung adenocarcinomas.;

GenBank Accession Number : NM_003317;

Details

Origin ID

C73444;

UMLS CUI

C2347318;

Currated CISMeF NLP mapping
- NK 2 [MeSH concept]
- NK 2 [MeSH Supplementary Concept]
OMIM relation
- Nk2 homeobox 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 14q13 [NCIt concept]
gene_is_element_in_pathway
- FOXA2 and FOXA3 Transcription Factor Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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