TGIF1 wt Allele

Preferred Label : TGIF1 wt Allele;

NCIt synonyms : TGFB-Induced Factor Homeobox 1 wt Allele; MGC 5066; TGIF; HPE4; MGC39747;

NCIt definition : Human TGIF1 wild-type allele is located in the vicinity of 18p11.3 and is approximately 46 kb in length. This allele, which encodes homeobox protein TGIF1, may play a role in regulation of TGF beta signalling (via the inhibition of SMAD2 phosphorylation). Mutations in this gene are associated with holoprosencephaly 4.;

GenBank Accession Number : NM_170695;

Détails

Origin ID

C75418;

UMLS CUI

C2699754;

OMIM relation
- Transforming growth factor-beta-induced factor [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Holoprosencephaly Type 4 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 18p11.3 [NCIt concept]
gene_is_element_in_pathway
- Coregulation Pathway for Androgen Receptor Activity [NCIt concept]
- Regulation of Nuclear SMAD2/3 Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Organism Development [NCIt concept]
- Signal Transduction [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

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