IPPK inositol-pentakisphosphate 2-kinase
Gene ID: 64768, updated on 18-Sep-2024Gene type: protein coding
Also known as: IP5K; IPK1; C9orf12; INSP5K2; bA476B13.1
- See all available tests in GTR for this gene
- Go to complete Gene record for IPPK
- Go to Variation Viewer for IPPK variants
Summary
The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hundreds of variants clustered in genomic loci and biological pathways affect human height. GeneReviews: Not available |
Genomic context
- Location:
- 9q22.31
- Sequence:
- Chromosome: 9; NC_000009.12 (92613183..92670131, complement)
- Total number of exons:
- 14
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for IPPK 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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