SIX3 wt Allele

Preferred Label : SIX3 wt Allele;

NCIt synonyms : SIX Homeobox 3 wt Allele; HPE2; Sine Oculis Homeobox, Drosophila, Homolog of, 3 Gene;

NCIt definition : Human SIX3 wild-type allele is located within 2p16-p21 and is approximately 4 kb in length. This allele, which encodes homeobox protein SIX3, plays a role in retinal development. Mutations in this gene are associated with holoprosencephaly 2.;

NCIt note : Six3 efficiently competes with Cdt1 directly to bind to geminin, which reveals how Six3 can promote cell proliferation without transcription. The transcription factor Six3 and the replication-initiation inhibitor geminin act antagonistically to control the balance between proliferation and differentiation during early vertebrate eye development. (Nature 2004;427: 745-9.);

GenBank Accession Number : AF092047; NM_005413;

Details

Origin ID

C75555;

UMLS CUI

C2699248;

False automatic mappings
- Holoprosencephaly 2 [OMIM Phenotype]
OMIM relation
- Six homeobox 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Holoprosencephaly Type 2 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 2p16-p21 [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Maturation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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