GATA4 wt Allele

Preferred Label : GATA4 wt Allele;

NCIt synonyms : GATA Binding Protein 4 wt Allele; MGC126629;

NCIt definition : Human GATA4 wild-type allele is located within 8p23.1-p22 and is approximately 56 kb in length. This allele, which encodes transcription factor GATA-4 protein, plays a role in the modulation of both transcription and cardiovascular development. Mutation of the gene is associated with atrial septal defect type 2.;

NCIt note : The product of the GATA4 gene binds to the consensus sequence 5'-AGATAG-3'. (UniProt);

GenBank Accession Number : AK097060;

Details

Origin ID

C75496;

UMLS CUI

C2700223;

OMIM relation
- Gata-binding protein 4 [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_is_element_in_pathway
- ALK Pathway [NCIt concept]
- HOP Pathway [NCIt concept]
- NFAT Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Morphogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients