Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
23262
Gene name Gene Name - the full gene name approved by the HGNC.
Diphosphoinositol pentakisphosphate kinase 2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PPIP5K2
Synonyms (NCBI Gene) Gene synonyms aliases
CFAP160, DFNB100, HISPPD1, IP7K2, VIP2
Disease Acronyms (UniProt) Disease acronyms from UniProt database
DFNB100
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q21.1
Summary Summary of gene provided in NCBI Entrez Gene.
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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs548137246 G>A Pathogenic Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT720154 hsa-miR-15b-5p HITS-CLIP 19536157
MIRT720153 hsa-miR-15a-5p HITS-CLIP 19536157
MIRT720152 hsa-miR-16-5p HITS-CLIP 19536157
MIRT720151 hsa-miR-6838-5p HITS-CLIP 19536157
MIRT720150 hsa-miR-497-5p HITS-CLIP 19536157
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000827 Function Inositol-1,3,4,5,6-pentakisphosphate kinase activity ISS
GO:0000828 Function Inositol hexakisphosphate kinase activity IBA 21873635
GO:0000828 Function Inositol hexakisphosphate kinase activity IDA 17690096
GO:0000829 Function Inositol heptakisphosphate kinase activity IBA 21873635
GO:0000832 Function Inositol hexakisphosphate 5-kinase activity ISS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611648 29035 ENSG00000145725
Protein
UniProt ID O43314
Protein name Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 (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) (hsVIP2)
Protein function Bifunctional inositol kinase that acts in concert with the IP6K kinases IP6K1, IP6K2 and IP6K3 to synthesize the diphosphate group-containing inositol pyrophosphates diphosphoinositol pentakisphosphate, PP-InsP5, and bis-diphosphoinositol tetrak
PDB 3T54 , 3T7A , 3T99 , 3T9A , 3T9B , 3T9C , 3T9D , 3T9E , 3T9F , 4HN2 , 4NZM , 4NZN , 4NZO , 4Q4C , 4Q4D , 5BYA , 5BYB , 5DGH , 5DGI , 6N5C , 8G9E
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18086 PPIP5K2_N 44 133 Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain Domain
PF00328 His_Phos_2 379 894 Histidine phosphatase superfamily (branch 2) Family
Sequence
MSEAPRFFVGPEDTEINPGNYRHFFHHADEDDEEEDDSPPERQIVVGICSMAKKSKSKPM
KEILERISLFKYITVVVFEEEVILNEPVENWPLCDCLISFHSKGFPLDKAVAYAKLRNPF
VINDLNMQYLIQD
RREVYSILQAEGILLPRYAILNRDPNNPKECNLIEGEDHVEVNGEVF
QKPFVEKPVSAEDHNVYIYYPTSAGGGSQRLFRKIGSRSSVYSPESNVRKTGSYIYEEFM
PTDGTDVKVYTVGPDYAHAEARKSPALDGKVERDSEGKEVRYPVILNAREKLIAWKVCLA
FKQTVCGFDLLRANGQSYVCDVNGFSFVKNSMKYYDDCAKILGNIVMRELAPQFHIPWSI
PLEAEDIPIVPTTSGTMMELRCVIAVIRHGDRTPKQKMKMEVRHQKFFDLFEKCDGYKSG
KLKLKKPKQLQEVLDIARQLLMELGQNNDSEIEENKPKLEQLKTVLEMYGHFSGINRKVQ
LTYLPHGCPKTSSEEEDSRREEPSLLLVLKWGGELTPAGRVQAEELGRAFRCMYPGGQGD
YAGFPGCGLLRLHSTYRHDLKIYASDEGRVQMTAAAFAKGLLALEGELTPILVQMVKSAN
MNGLLDSDSDSLSSCQQRVKARLHEILQKDRDFTAEDYEKLTPSGSISLIKSMHLIKNPV
KTCDKVYSLIQSLTSQIRHRMEDPKSSDIQLYHSETLELMLRRWSKLEKDFKTKNGRYDI
SKIPDIYDCIKYDVQHNGSLKLENTMELYRLSKALADIVIPQEYGITKAEKLEIAKGYCT
PLVRKIRSDLQRTQDDDTVNKLHPVYSRGVLSPERHVRTRLYFTSESHVHSLLSILRYGA
LCNESKDEQWKRAMDYLNVVNELNYMTQIVIMLYEDPNKDLSSEERFHVELHFS
PGAKGC
EEDKNLPSGYGYRPASRENEGRRPFKIDNDDEPHTSKRDEVDRAVILFKPMVSEPIHIHR
KSPLPRSRKTATNDEESPLSVSSPEGTGTWLHYTSGVGTGRRRRRSGEQITSSPVSPKSL
AFTSSIFGSWQQVVSENANYLRTPRTLVEQKQNPTVGSHCAGLFSTSVLGGSSSAPNLQD
YARTHRKKLTSSGCIDDATRGSAVKRFSISFARHPTNGFELYSMVPSICPLETLHNALSL
KQVDEFLASIASPSSDVPRKTAEISSTALRSSPIMRKKVSLNTYTPAKILPTPPATLKST
KASSKPATSGPSSAVVPNTSSRKKNITSKTETHEHKKNTGKKK
Sequence length 1243
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Phosphatidylinositol signaling system   Synthesis of pyrophosphates in the cytosol
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Hearing loss Sensorineural Hearing Loss (disorder) rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359
View all (184 more)
Unknown
Disease term Disease name Evidence References Source
Deafness hearing loss, autosomal recessive 100, hearing loss, autosomal recessive GenCC
Diabetes Diabetes GWAS
Insomnia Insomnia GWAS
Associations from Text Mining
Disease Name Relationship Type References
Autistic Disorder Associate 26204995