GATA2 wt Allele

Preferred Label : GATA2 wt Allele;

NCIt synonyms : MGC2306; NFE1B; FLJ45948; GATA Binding Protein 2 wt Allele; MONOMAC; DCML; IMD21;

NCIt definition : Human GATA2 wild-type allele is located in the vicinity of 3q21.3 and is approximately 14 kb in length. This allele, which encodes endothelial transcription factor GATA-2 protein, plays a role in both transcriptional regulation and DNA binding. Mutation or aberrant expression of the gene is associated with myelodysplasic syndrome, chronic myeloid leukemia and aplastic anemia.;

GenBank Accession Number : AF169253;

Détails

Origin ID

C97553;

UMLS CUI

C3273486;

Automatic exact mappings (from CISMeF team)
- GATA binding protein 2 [ORDO Gene]
- Immunodeficiency 21 [OMIM Phenotype]
- Monocytopenia with susceptibility to infections [ORDO Disease]
- Monocytopenia with susceptibility to infections (disorder) [SNOMED CT concept]
- immunodeficiency 21 [DO Concept]
OMIM relation
- Gata-binding protein 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_involved_in_pathogenesis_of_disease
- Hematologic Neoplasm with Germline GATA2 Mutation [NCIt concept]
gene_is_element_in_pathway
- Androgen Receptor Regulation Pathway [NCIt concept]
- HDAC Class I Signaling Pathway [NCIt concept]
- HDAC Class II Signaling Pathway [NCIt concept]
- HIF-1-Alpha Transcription Factor Pathway [NCIt concept]
gene_plays_role_in_process
- DNA Binding [NCIt concept]
- Phagocytosis [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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