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Gene : PPIP5K2 Homo sapiens

Name  ? diphosphoinositol pentakisphosphate kinase 2 Cytological Location  5q21.1
Brief Description  diphosphoinositol pentakisphosphate kinase 2
Description  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]
  • synonyms:
  • PPIP5K2,
  • CFAP160,
  • deafness, autosomal recessive 100,
  • AB007893,
  • HISPPD1,
  • histidine acid phosphatase domain containing 1,
  • VIP2,
  • DFNB100,
  • NM_015216,
  • CFAP160,
  • IP7K2,
  • HGNC:29035,
  • HISPPD1,
  • uc063fui.1,
  • VIP2,
  • DFNB100,
  • OTTHUMG00000181461,
  • KIAA0433
  • identifiers:
  • 23262,
  • ENSG00000145725,
  • PPIP5K2

Genome feature

Region: gene ? Length: 92527  
Location: 5:103120273-103212799 Cyto location: 5q21.1

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Gene -> HPO annotation (Human Phenotype Ontology)

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3753 SN Ps

5 Cross References

19 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results