TWIST2 wt Allele

Preferred Label : TWIST2 wt Allele;

NCIt synonyms : Dermis-Expressed Protein 1, Mouse, Homolog of Gene; FFDD3; BBRSAY; DERMO1; Twist Family bHLH Transcription Factor 2 wt Allele; Twist Homolog 2 (Drosophila) Gene; BHLHA39; AMS; SETLSS; Twist, Drosophila, Homolog of, 2 Gene;

NCIt definition : Human TWIST2 wild-type allele is located in the vicinity of 2q37.3 and is approximately 63 kb in length. This allele, which encodes twist-related protein 2, is involved in the modulation of osteogenesis. Mutation of the gene is associated with Ablepharon-macrostomia syndrome, Barber-Say syndrome, and Setleis type focal facial dermal dysplasia 3.;

NCI Metathesaurus CUI : CL508998;

GenBank Accession Number : BC017907;

Détails

Origin ID

C127914;

UMLS CUI

C4284022;

Automatic exact mappings (from CISMeF team)
- Ablepharon-macrostomia syndrome [OMIM Phenotype]
- Barber-say syndrome [OMIM Phenotype]
- Focal facial dermal dysplasia 3, setleis type [OMIM Phenotype]
- Focal facial dermal dysplasia type III [ORDO Disease]
- Multiple system atrophy [ORDO Disease]
- Twist family bhlh transcription factor 2 [OMIM gene]
- alpha-Amylases [MeSH Descriptor]
- mesenteric artery, superior [MeSH Descriptor]
- multiple system atrophy [MeSH Descriptor]
- twist family bHLH transcription factor 2 [ORDO Gene]
OMIM relation
- Twist family bhlh transcription factor 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_plays_role_in_process
- DNA Binding [NCIt concept]
- Negative Regulation of Cell Differentiation [NCIt concept]
- Protein Dimerization [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

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