TPRKB TP53RK binding protein
Gene ID: 51002, updated on 4-Jan-2025Gene type: protein coding
Also known as: CGI121; GAMOS5; CGI-121
- See all available tests in GTR for this gene
- Go to complete Gene record for TPRKB
- Go to Variation Viewer for TPRKB variants
Summary
Enables protein kinase binding activity. Involved in tRNA threonylcarbamoyladenosine modification. Located in cytosol and nucleus. Part of EKC/KEOPS complex. Implicated in Galloway-Mowat syndrome 5. [provided by Alliance of Genome Resources, Jan 2025]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. GeneReviews: Not available | |
| Galloway-Mowat syndrome 5 | See labs |
| Genetic loci influencing kidney function and chronic kidney disease. GeneReviews: Not available |
Genomic context
- Location:
- 2p13.1
- Sequence:
- Chromosome: 2; NC_000002.12 (73729873..73737345, complement)
- Total number of exons:
- 8
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for TPRKB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- 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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