SIX5 wt Allele

Preferred Label : SIX5 wt Allele;

NCIt synonyms : BOR2; SIX Homeobox 5 wt Allele; Sine Oculis Homeobox, Drosophila, Homolog of, 5 Gene; DMAHP;

NCIt definition : Human SIX5 wild-type allele is located in the vicinity of 19q13.32 and is approximately 4 kb in length. This allele, which encodes homeobox protein SIX5, plays a role in both the regulation of transcription and the regulation of organogenesis. Mutations in this gene are associated with branchiootorenal syndrome type 2.;

GenBank Accession Number : NM_175875;

Details

Origin ID

C111813;

UMLS CUI

C3812164;

Automatic exact mappings (from CISMeF team)
- Branchiootorenal syndrome 2 [OMIM Phenotype]
- SIX homeobox 5 [ORDO Gene]
- Six homeobox 5 [OMIM gene]
- branchiootorenal syndrome 2 [DO Concept]
OMIM relation
- Six homeobox 5 [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]
- Developmental Process [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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