CCN6 wt Allele

Preferred Label : CCN6 wt Allele;

NCIt synonyms : Cellular Communication Network Factor 6 wt Allele; WISP3 wt Allele; WISP-3; PPAC; LIBC; PPD; WNT1 Inducible Signaling Pathway Protein 3 Gene; UNQ462/PRO790/PRO956; WISP3;

NCIt definition : Human CCN6 wild type allele is located in the vicinity of 6q21 and is approximately 17 kb in length. This allele, which encodes cellular communication network factor 6 protein, is involved in both mitochondrial electron transport and mitochondrial respiration, which may regulate skeletal growth and cartilage homeostasis. The wild type allele is expressed aberrantly at elevated levels in colon tumors. Mutations in this gene are associated with progressive pseudorheumatoid dysplasia.;

GenBank Accession Number : NM_003880;

Details

Origin ID

C52974;

UMLS CUI

C1710647;

Automatic exact mappings (from CISMeF team)
- 4-hydroxyphenylpyruvate dioxygenase [ORDO Gene]
- Cellular communication network factor 6 [OMIM gene]
- Progressive pseudorheumatoid dysplasia [OMIM Phenotype]
- cellular communication network factor 6 [ORDO Gene]
- peripeduncular nucleus [UBERON concept]
- visual system homeobox 1 [ORDO Gene]
False automatic mappings
- tuberculin [MeSH Descriptor]
OMIM relation
- Cellular communication network factor 6 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 6q21 [NCIt concept]
gene_plays_role_in_process
- Heparin Binding [NCIt concept]
- Signal Transduction [NCIt concept]
- Skeletal Development [NCIt concept]

Keyword's position in hierarchy(ies) :

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