ZFPM2 wt Allele

Preferred Label : ZFPM2 wt Allele;

NCIt synonyms : Zinc Finger Protein, Multitype 2 wt Allele; ZNF89B; hFOG-2; Modulator of Transcription Factor GATA4 Gene; FOG2; DIH3;

NCIt definition : Human ZFPM2 wild-type allele is located in the vicinity of 8q23 and is approximately 486 kb in length. This allele, which encodes zinc finger protein ZFPM2, is involved in transcriptional regulation during heart development. Mutation of the gene is associated with both diaphragmatic hernia 3 and tetralogy of Fallot. A complex chromosomal rearrangement fuses this gene and the RUNX1 gene and is associated with myelodysplasia.;

GenBank Accession Number : AF119334;

Details

Origin ID

C102765;

UMLS CUI

C3540806;

Automatic exact mappings (from CISMeF team)
- Diaphragmatic hernia 3 [OMIM Phenotype]
- Zinc finger protein, fog family member 2 [OMIM gene]
- zinc finger protein, FOG family member 2 [ORDO Gene]
OMIM relation
- Zinc finger protein, fog family member 2 [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_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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