USP12 ubiquitin specific peptidase 12
Gene ID: 219333, updated on 6-Oct-2024Gene type: protein coding
Also known as: UBH1; USP12L1
- See all available tests in GTR for this gene
- Go to complete Gene record for USP12
- Go to Variation Viewer for USP12 variants
Summary
Enables cysteine-type endopeptidase activity and thiol-dependent deubiquitinase. Involved in protein deubiquitination. Predicted to be located in nucleoplasm. Predicted to be active in cytosol and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population. GeneReviews: Not available | |
Genomewide association analysis of symptoms of alcohol dependence in the molecular genetics of schizophrenia (MGS2) control sample. GeneReviews: Not available |
Genomic context
- Location:
- 13q12.13
- Sequence:
- Chromosome: 13; NC_000013.11 (27066156..27171811, complement)
- Total number of exons:
- 9
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for USP12 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
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