• Gene id: 23262

Gene Summary

• Gene Symbol: PPIP5K2   Gene   UCSC   Ensembl
• Aliases: CFAP160, DFNB100, HISPPD1, IP7K2, VIP2
• Gene name: diphosphoinositol pentakisphosphate kinase 2
• Alternate names: inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2, VIP1 homolog 2, deafness, autosomal recessive 100, histidine acid phosphatase domain-containing protein 1, inositol heptaphosphate kinase 2, insP6 and PP-IP5 kinase 2,
• Gene location: 5q21.1 (103120272: 103212798)     Exons: 34     NC_000005.10
• Gene summary(Entrez): 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 k
• OMIM: 611648

Protein Summary

• Protein general information: O43314  
  • Name: Inositol hexakisphosphate and diphosphoinositol pentakisphosphate kinase 2 (EC 2.7.4.21) (EC 2.7.4.24) (Diphosphoinositol pentakisphosphate kinase 2) (Histidine acid phosphatase domain containing protein 1) (InsP6 and PP IP5 kinase 2) (VIP1 homolog 2) (hs
  • Length: 1243  
  • Mass: 140407
• Sequence:

  MSEAPRFFVGPEDTEINPGNYRHFFHHADEDDEEEDDSPPERQIVVGICSMAKKSKSKPMKEILERISLFKYITV
  VVFEEEVILNEPVENWPLCDCLISFHSKGFPLDKAVAYAKLRNPFVINDLNMQYLIQDRREVYSILQAEGILLPR
  YAILNRDPNNPKECNLIEGEDHVEVNGEVFQKPFVEKPVSAEDHNVYIYYPTSAGGGSQRLFRKIGSRSSVYSPE
  SNVRKTGSYIYEEFMPTDGTDVKVYTVGPDYAHAEARKSPALDGKVERDSEGKEVRYPVILNAREKLIAWKVCLA
  FKQTVCGFDLLRANGQSYVCDVNGFSFVKNSMKYYDDCAKILGNIVMRELAPQFHIPWSIPLEAEDIPIVPTTSG
  TMMELRCVIAVIRHGDRTPKQKMKMEVRHQKFFDLFEKCDGYKSGKLKLKKPKQLQEVLDIARQLLMELGQNNDS
  EIEENKPKLEQLKTVLEMYGHFSGINRKVQLTYLPHGCPKTSSEEEDSRREEPSLLLVLKWGGELTPAGRVQAEE
  LGRAFRCMYPGGQGDYAGFPGCGLLRLHSTYRHDLKIYASDEGRVQMTAAAFAKGLLALEGELTPILVQMVKSAN
  MNGLLDSDSDSLSSCQQRVKARLHEILQKDRDFTAEDYEKLTPSGSISLIKSMHLIKNPVKTCDKVYSLIQSLTS
  QIRHRMEDPKSSDIQLYHSETLELMLRRWSKLEKDFKTKNGRYDISKIPDIYDCIKYDVQHNGSLKLENTMELYR
  LSKALADIVIPQEYGITKAEKLEIAKGYCTPLVRKIRSDLQRTQDDDTVNKLHPVYSRGVLSPERHVRTRLYFTS
  ESHVHSLLSILRYGALCNESKDEQWKRAMDYLNVVNELNYMTQIVIMLYEDPNKDLSSEERFHVELHFSPGAKGC
  EEDKNLPSGYGYRPASRENEGRRPFKIDNDDEPHTSKRDEVDRAVILFKPMVSEPIHIHRKSPLPRSRKTATNDE
  ESPLSVSSPEGTGTWLHYTSGVGTGRRRRRSGEQITSSPVSPKSLAFTSSIFGSWQQVVSENANYLRTPRTLVEQ
  KQNPTVGSHCAGLFSTSVLGGSSSAPNLQDYARTHRKKLTSSGCIDDATRGSAVKRFSISFARHPTNGFELYSMV
  PSICPLETLHNALSLKQVDEFLASIASPSSDVPRKTAEISSTALRSSPIMRKKVSLNTYTPAKILPTPPATLKST
  KASSKPATSGPSSAVVPNTSSRKKNITSKTETHEHKKNTGKKK

• Structural information:
  • Interpro: IPR033379  IPR000560  IPR037446  IPR029033  IPR040557  
  • Prosite: PS00616
  • CDD: cd07061
  • PDB: 3T54 3T7A 3T99 3T9A 3T9B 3T9C 3T9D 3T9E 3T9F 4HN2 4NZM 4NZN 4NZO 4Q4C 4Q4D 5BYA 5BYB 5DGH 5DGI 6N5C
  • PDBsum: 3T54 3T7A 3T99 3T9A 3T9B 3T9C 3T9D 3T9E 3T9F 4HN2 4NZM 4NZN 4NZO 4Q4C 4Q4D 5BYA 5BYB 5DGH 5DGI 6N5C
  • STRING: ENSP00000482907
• Other Databases: GeneCards:  PPIP5K2  Malacards:  PPIP5K2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000829	inositol heptakisphosphate kinase activity	IBA	molecular function
GO:0005829	cytosol	IBA	cellular component
GO:0000828	inositol hexakisphosphate kinase activity	IBA	molecular function
GO:0006020	inositol metabolic process	IBA	biological process
GO:0032958	inositol phosphate biosynthetic process	IBA	biological process
GO:0033857	diphosphoinositol-pentakisphosphate kinase activity	IBA	molecular function
GO:0000829	inositol heptakisphosphate kinase activity	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0016301	kinase activity	IEA	molecular function
GO:0000166	nucleotide binding	IEA	molecular function
GO:0016310	phosphorylation	IEA	biological process
GO:0007605	sensory perception of sound	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0102092	5-diphosphoinositol pentakisphosphate 3-kinase activity	IEA	molecular function
GO:0052724	inositol hexakisphosphate 3-kinase activity	IEA	molecular function
GO:0000827	inositol-1,3,4,5,6-pentakisphosphate kinase activity	IEA	molecular function
GO:0052723	inositol hexakisphosphate 1-kinase activity	IEA	molecular function
GO:0033857	diphosphoinositol-pentakisphosphate kinase activity	IEA	molecular function
GO:0000832	inositol hexakisphosphate 5-kinase activity	IEA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0033857	diphosphoinositol-pentakisphosphate kinase activity	IDA	molecular function
GO:0000828	inositol hexakisphosphate kinase activity	IDA	molecular function
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0043647	inositol phosphate metabolic process	TAS	biological process
GO:0005829	cytosol	IEA	cellular component
GO:0033857	diphosphoinositol-pentakisphosphate kinase activity	ISS	molecular function
GO:0006020	inositol metabolic process	ISS	biological process
GO:0005829	cytosol	ISS	cellular component
GO:0000827	inositol-1,3,4,5,6-pentakisphosphate kinase activity	ISS	molecular function
GO:0000832	inositol hexakisphosphate 5-kinase activity	ISS	molecular function
GO:0005524	ATP binding	IDA	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04070	Phosphatidylinositol signaling system

Diseases

Associated diseases	References
Deafness, autosomal recessive	KEGG:H00605
Deafness, autosomal recessive	KEGG:H00605
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq