PI4KB phosphatidylinositol 4-kinase beta
Gene ID: 5298, updated on 17-Aug-2024Gene type: protein coding
Also known as: NPIK; DFNA87; PI4K92; PIK4CB; PI4KIII; PI4KBETA; PI4K-BETA; PI4KIIIBETA
- See all available tests in GTR for this gene
- Go to complete Gene record for PI4KB
- Go to Variation Viewer for PI4KB variants
Summary
Enables 1-phosphatidylinositol 4-kinase activity and 14-3-3 protein binding activity. Predicted to be involved in phosphatidylinositol phosphate biosynthetic process and phosphatidylinositol-mediated signaling. Located in Golgi membrane. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hearing loss, autosomal dominant 87 | See labs |
Genomic context
- Location:
- 1q21.3
- Sequence:
- Chromosome: 1; NC_000001.11 (151291797..151327715, complement)
- Total number of exons:
- 16
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PI4KB 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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