PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2)

2014-11-01  

Identity

HGNC
LOCATION
5q21.1
LOCUSID
ALIAS
CFAP160,DFNB100,HISPPD1,IP7K2,VIP2
FUSION GENES

Other Information

Locus ID:

NCBI: 23262
MIM: 611648
HGNC: 29035
Ensembl: ENSG00000145725

Variants:

dbSNP: 23262
ClinVar: 23262
TCGA: ENSG00000145725
COSMIC: PPIP5K2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145725ENST00000321521O43314
ENSG00000145725ENST00000358359O43314
ENSG00000145725ENST00000414217O43314
ENSG00000145725ENST00000502481K7EPT7
ENSG00000145725ENST00000504275K7EJG8
ENSG00000145725ENST00000507310H0Y9M0
ENSG00000145725ENST00000507921D6RBU4
ENSG00000145725ENST00000509597H0Y9S9
ENSG00000145725ENST00000511022K7ENU7
ENSG00000145725ENST00000515845D6RFG4
ENSG00000145725ENST00000613674A0A087WZV0
ENSG00000145725ENST00000613907A0A087WWN8
ENSG00000145725ENST00000627916A0A087WZV0

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Phosphatidylinositol signaling systemKEGGko04070
Phosphatidylinositol signaling systemKEGGhsa04070
MetabolismREACTOMER-HSA-1430728
Inositol phosphate metabolismREACTOMER-HSA-1483249
Synthesis of pyrophosphates in the cytosolREACTOMER-HSA-1855167

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
221198612011Structural basis for an inositol pyrophosphate kinase surmounting phosphate crowding.55
262049952015Whole exome sequencing in extended families with autism spectrum disorder implicates four candidate genes.20
281269032017The Significance of the Bifunctional Kinase/Phosphatase Activities of Diphosphoinositol Pentakisphosphate Kinases (PPIP5Ks) for Coupling Inositol Pyrophosphate Cell Signaling to Cellular Phosphate Homeostasis.19
232405822013The kinetic properties of a human PPIP5K reveal that its kinase activities are protected against the consequences of a deteriorating cellular bioenergetic environment.18
295901142018Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.9
260843992015Identification of a functional nuclear translocation sequence in hPPIP5K2.4
309561312019Dynamics of Substrate Processing by PPIP5K2, a Versatile Catalytic Machine.0

Citation

Dessen P

PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/72137/ppip5k2