PPIP5K2 diphosphoinositol pentakisphosphate kinase 2
Gene ID: 23262, updated on 7-Apr-2024Gene type: protein coding
Also known as: VIP2; IP7K2; CFAP160; DFNB100; HISPPD1
- See all available tests in GTR for this gene
- Go to complete Gene record for PPIP5K2
- Go to Variation Viewer for PPIP5K2 variants
Summary
This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Hearing loss, autosomal recessive 100 | See labs |
Genomic context
- Location:
- 5q21.1
- Sequence:
- Chromosome: 5; NC_000005.10 (103120301..103212799)
- Total number of exons:
- 34
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PPIP5K2 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
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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