SPOP wt Allele

Preferred Label : SPOP wt Allele;

NCIt synonyms : NSDVS1; TEF2; Speckle-Type POZ Protein Gene; NSDVS2; NEDMACE; Speckle-Type BTB/POZ Protein Gene; Speckle Type BTB/POZ Protein wt Allele; BTBD32; NEDMIDF;

NCIt definition : Human SPOP wild-type allele is located in the vicinity of 17q21.33 and is approximately 79 kb in length. This allele, which encodes speckle-type POZ protein, plays a role in the regulation of protein ubiquitination. Mutation of the gene is associated with Nabais Sa-de Vries syndrome, types 1 and 2.;

NCIt note : Mutation of the SPOP gene may be associated with prostate cancer. (Nature Genetics, 2012; 44:685-689.);

GenBank Accession Number : AJ000644;

Details

Origin ID

C102537;

UMLS CUI

C3540803;

OMIM relation
- Speckle-type btb/poz protein [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_is_element_in_pathway
- Hedgehog Signaling Events Mediated by Gli Family Proteins [NCIt concept]
- Hedgehog Signaling Pathway [NCIt concept]
gene_plays_role_in_process
- Polyubiquitination [NCIt concept]
- Regulation of Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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