NKX2-5 wt Allele

Preferred Label : NKX2-5 wt Allele;

NCIt synonyms : FLJ97166; NKX4-1; HLHS2; NKX2.5; FLJ52202; NKX2E; VSD3; CSX1; FLJ97197; FLJ99536; FLJ97195; Tinman Paralog (Drosophila) Gene; CSX; NK2 Homeobox 5 wt Allele; CHNG5;

NCIt definition : Human NKX2-5 wild-type allele is located in the vicinity of 5q34 and is approximately 3 kb in length. This allele, which encodes homeobox protein Nkx-2.5, is involved in both heart development and the modulation of transcription. Mutation of the gene is associated with atrial septal defect type 7, tetralogy of Fallot, and congenital hypothyroidism non-goitrous type 5.;

NCIt note : A missense mutation of the NKX2-5 gene may be associated with asplenia. (Dev Cell. 2012; 22:913-26.);

GenBank Accession Number : AB021133;

Details

Origin ID

C102511;

UMLS CUI

C3538707;

Automatic exact mappings (from CISMeF team)
- Hypoplastic left heart syndrome 2 [OMIM Phenotype]
- NK2 homeobox 5 [ORDO Gene]
- Nk2 homeobox 5 [OMIM gene]
- Ventricular septal defect 3 [OMIM Phenotype]
- congenital nongoitrous hypothyroidism 5 [DO Concept]
OMIM relation
- Nk2 homeobox 5 [OMIM gene]
See also inter- (CISMeF)
- Hypothyroidism, congenital, nongoitrous, 5 [OMIM Phenotype]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 5q34 [NCIt concept]
gene_is_element_in_pathway
- ALK Pathway [NCIt concept]
- HOP Pathway [NCIt concept]
- NFAT Pathway [NCIt concept]
- Regulation of Nuclear SMAD2/3 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Positive Regulation of Angiogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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