PITX2 wt Allele

Preferred Label : PITX2 wt Allele;

NCIt synonyms : MGC20144; Otlx2; RS; RIEG1; Paired-Like Homeodomain 2 wt Allele; IDG2; Paired-Like Homeodomain Transcription Factor 2 Gene; RGS; ARP1; IGDS; MGC111022; IRID2; RIEG; Brx1; IGDS2; IHG2; PTX2;

NCIt definition : Human PITX2 wild-type allele is located within 4q25-q27 and is approximately 25 kb in length. This allele, which encodes pituitary homeobox 2 protein, plays a role in both the modulation of transcription and the regulation of pancreatic development. Mutations in the gene are associated with Rieger syndrome type 1, iridogoniodysgenesis type 2, Peters anomaly, and ring dermoid of cornea.;

GenBank Accession Number : U69961;

Détails

Origin ID

C75892;

UMLS CUI

C2698694;

False automatic mappings
- Axenfeld-rieger syndrome, type 1 [OMIM Phenotype]
- RSS [MeSH concept]
- immunoglobulin D [MeSH Descriptor]
OMIM relation
- Paired-like homeodomain 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_associated_with_disease
- Rieger Syndrome Type 1 [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 4q25-q27 [NCIt concept]
gene_is_element_in_pathway
- Pitx2 Transcription Regulation Pathway [NCIt concept]
- TGF-beta Signaling Pathway KEGG [NCIt concept]
gene_plays_role_in_process
- Cell Differentiation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Developmental Process [NCIt concept]
- Organogenesis [NCIt concept]
- Transcription [NCIt concept]
- Transcriptional Regulation [NCIt concept]

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