USP18 wt Allele

Preferred Label : USP18 wt Allele;

NCIt synonyms : Interferon-Stimulated Gene, 43-kD Gene; ISG43; UBP43; Ubiquitin Specific Peptidase 18 wt Allele; PTORCH2; Ubiquitin-Specific Protease, 43-kD Gene;

NCIt definition : Human USP18 wild-type allele is located in the vicinity of 22q11.2 and is approximately 27 kb in length. This allele, which encodes Ubl carboxyl-terminal hydrolase 18 protein, is involved in the cleavage of proteins conjugated with ubiquitin-like protein ISG15. Mutation of the gene is associated with pseudo-TORCH syndrome 2.;

NCI Metathesaurus CUI : CL935940;

GenBank Accession Number : AJ243526;

Details

Origin ID

C156941;

UMLS CUI

C4723953;

Automatic exact mappings (from CISMeF team)
- Pseudo-torch syndrome 2 [OMIM Phenotype]
- Ubiquitin-specific protease 18 [OMIM gene]
OMIM relation
- Ubiquitin-specific protease 18 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 22q11.2 [NCIt concept]
gene_plays_role_in_process
- Hydrolysis [NCIt concept]
- Inflammatory Response [NCIt concept]
- Interferon Signaling Process [NCIt concept]
- Protein Cleavage [NCIt concept]
- Proteolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

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