ZEB2 wt Allele

Preferred Label : ZEB2 wt Allele;

NCIt synonyms : SIP1; ZFHX1B; KIAA0569; SMADIP1; Zinc Finger E-Box Binding Homeobox 2 wt Allele; ZFX1B; Zinc Finger Homeobox 1b Gene; SIP-1; HRIHFB2411; HSPC082; SMAD Interacting Protein 1 Gene;

NCIt definition : Human ZEB2 wild-type allele is located in the vicinity of 2q22 and is approximately 132 kb in length. This allele, which encodes zinc finger E-box-binding homeobox 2 protein, is involved in regulation of transcription. Mutations in this gene are associated with Mowat-Wilson syndrome.;

GenBank Accession Number : NM_014795;

Details

Origin ID

C75442;

UMLS CUI

C2700298;

OMIM relation
- Zinc finger e box-binding homeobox 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_in_chromosomal_location
- 2q22 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- B Acute Lymphoblastic Leukemia with Mutated ZEB2 (p.H1038R) [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Nervous System Development [NCIt concept]
- Protein-Protein Interaction [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

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