PAX2 wt Allele

Preferred Label : PAX2 wt Allele;

NCIt synonyms : PAX2; Paired Box 2 wt Allele; FSGS7; Paired Box Homeotic Gene 2; Paired Box Gene 2; PAPRS; PAX-2;

NCIt definition : Human PAX2 wt allele is located in the vicinity of 10q24.31 and is approximately 94 kb in length. This allele, which encodes paired box protein Pax-2, plays a role in transcription during development of the central nervous system, eyes, kidney and urogenital tract. Mutations in this gene are associated with papillorenal syndrome, focal segmental glomerulosclerosis 7 and endometrial atypical hyperplasia/endometrioid intraepithelial neoplasia.;

GenBank Accession Number : NM_003987;

Details

Origin ID

C73657;

UMLS CUI

C2347420;

Automatic exact mappings (from CISMeF team)
- Focal segmental glomerulosclerosis 7 [OMIM Phenotype]
- Paired box gene 2 [OMIM gene]
- Papillorenal syndrome [OMIM Phenotype]
- paired box 2 [ORDO Gene]
OMIM relation
- Paired box gene 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]
- Neural Development [NCIt concept]
- Transcription [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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