SOX17 wt Allele

Preferred Label : SOX17 wt Allele;

NCIt synonyms : SOX-17; SRY (Sex Determining Region Y)-Box 17 wt Allele; VUR3; SRY-Box 17 Gene; SRY-Related HMG-Box Gene 17;

NCIt definition : Human SOX17 wild-type allele is located in the vicinity of 8q11.23 and is approximately 3 kb in length. This allele, which encodes transcription factor SOX-17 protein, is involved in the formation of both the embryonic heart tube and presumptive gut endoderm. Mutation of the gene is associated with vesicoureteral reflux type 3.;

GenBank Accession Number : AB073988;

Details

Origin ID

C114834;

UMLS CUI

C3890563;

Automatic exact mappings (from CISMeF team)
- SRY-box transcription factor 17 [ORDO Gene]
- Sry-box 17 [OMIM gene]
- Vesicoureteral reflux 3 [OMIM Phenotype]
OMIM relation
- Sry-box 17 [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
- DNA Binding [NCIt concept]
- Embryogenesis [NCIt concept]
- Morphogenesis [NCIt concept]
- Organogenesis [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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