ZEB1 wt Allele

Preferred Label : ZEB1 wt Allele;

NCIt synonyms : AREB6; FECD6; BZP; ZFHEP; ZFHX1A; NIL-2-A; Zinc Finger E-Box Binding Homeobox 1 wt Allele; ZEB; TCF-8; DELTAEF1; NIL2A; PPCD3; TCF8; Posterior Polymorphous Corneal Dystrophy 3 Gene; T-Lymphocyte-Specific Interleukin 2 Inhibitor Gene; Transcription Factor 8 (Represses Interleukin 2 Expression) Gene;

NCIt definition : Human ZEB1 wild-type allele is located in the vicinity of 10p11.2 and is approximately 214 kb in length. This allele, which encodes zinc finger E-box-binding homeobox 1 protein, plays a role in the transcriptional repression of interleukin-2 gene expression. Mutations in this gene are associated with both posterior polymorphous corneal dystrophy-3 and late-onset Fuchs endothelial corneal dystrophy.;

NCIt note : Ensembl and Hugo place this gene at 10p11.22;

GenBank Accession Number : NM_030751;

Details

Origin ID

C105606;

UMLS CUI

C3538848;

OMIM relation
- Zinc finger e box-binding homeobox 1 [OMIM gene]
See also inter- (CISMeF)
- Corneal dystrophy, fuchs endothelial, 6 [OMIM Phenotype]
- Corneal dystrophy, posterior polymorphous, 3 [OMIM Phenotype]
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]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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