PRDM5 wt Allele

Preferred Label : PRDM5 wt Allele;

NCIt synonyms : PR Domain Containing 5 Gene; PFM2; PR Domain 5 Gene; BCS2; PR/SET Domain 5 wt Allele;

NCIt definition : Human PRDM5 wild-type allele is located in the vicinity of 4q27 and is approximately 238 kb in length. This allele, which encodes PR domain zinc finger protein 5, is involved in histone modification, transcriptional repression and hematopoiesis. Mutation of the gene is associated with brittle cornea syndrome 2.;

NCI Metathesaurus CUI : CL1773115;

GenBank Accession Number : AF272897;

Details

Origin ID

C185061;

UMLS CUI

C5575513;

Automatic exact mappings (from CISMeF team)
- Brittle cornea syndrome 2 [OMIM Phenotype]
- PR/SET domain 5 [ORDO Gene]
- Parietal foramina 2 [OMIM Phenotype]
- Pr domain-containing protein 5 [OMIM gene]
OMIM relation
- Pr domain-containing protein 5 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_plays_role_in_process
- Cell Cycle Regulation Process [NCIt concept]
- DNA Binding [NCIt concept]
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

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