PUS10 pseudouridine synthase 10
Gene ID: 150962, updated on 10-Oct-2024Gene type: protein coding
Also known as: DOBI; Hup10; CCDC139
- See all available tests in GTR for this gene
- Go to complete Gene record for PUS10
- Go to Variation Viewer for PUS10 variants
Summary
Pseudouridination, the isomerization of uridine to pseudouridine, is the most common posttranscriptional nucleotide modification found in RNA and is essential for biologic functions such as spliceosome biogenesis. Pseudouridylate synthases, such as PUS10, catalyze pseudouridination of structural RNAs, including transfer, ribosomal, and splicing RNAs. These enzymes also act as RNA chaperones, facilitating the correct folding and assembly of tRNAs (McCleverty et al., 2007 [PubMed 17900615]).[supplied by OMIM, May 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. GeneReviews: Not available | |
| A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease. GeneReviews: Not available | |
| Genome-wide association identifies multiple ulcerative colitis susceptibility loci. GeneReviews: Not available | |
| Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. GeneReviews: Not available | |
| Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease. GeneReviews: Not available | |
| Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. GeneReviews: Not available | |
| Multiple common variants for celiac disease influencing immune gene expression. GeneReviews: Not available |
Genomic context
- Location:
- 2p16.1-p15
- Sequence:
- Chromosome: 2; NC_000002.12 (60940223..61018259, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PUS10 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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