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Aliases for PPIP5K2 Gene

Aliases for PPIP5K2 Gene

  • Diphosphoinositol Pentakisphosphate Kinase 2 2 3 4 5
  • Histidine Acid Phosphatase Domain-Containing Protein 1 3 4
  • InsP6 And PP-IP5 Kinase 2 3 4
  • VIP1 Homolog 2 3 4
  • HISPPD1 3 4
  • VIP2 3 4
  • Inositol Hexakisphosphate And Diphosphoinositol-Pentakisphosphate Kinase 2 3
  • Histidine Acid Phosphatase Domain Containing 1 2
  • Inositol Heptaphosphate Kinase 2 3
  • EC 2.7.4.21 4
  • EC 2.7.4.24 4
  • KIAA0433 4
  • CFAP160 3
  • HsVIP2 4
  • IP7K2 3

External Ids for PPIP5K2 Gene

Previous HGNC Symbols for PPIP5K2 Gene

  • HISPPD1

Previous GeneCards Identifiers for PPIP5K2 Gene

  • GC05P102455
  • GC05P097646

Summaries for PPIP5K2 Gene

Entrez Gene Summary for PPIP5K2 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 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]

GeneCards Summary for PPIP5K2 Gene

PPIP5K2 (Diphosphoinositol Pentakisphosphate Kinase 2) is a Protein Coding gene. Diseases associated with PPIP5K2 include Autism Spectrum Disorder. Among its related pathways are Metabolism and Inositol phosphate metabolism (REACTOME). GO annotations related to this gene include acid phosphatase activity and inositol hexakisphosphate 1-kinase activity. An important paralog of this gene is PPIP5K1.

UniProtKB/Swiss-Prot for PPIP5K2 Gene

  • 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 tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PPIP5K2 Gene

Genomics for PPIP5K2 Gene

Regulatory Elements for PPIP5K2 Gene

Enhancers for PPIP5K2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F103224 1.3 Ensembl ENCODE 44.5 +104.5 104519 0.5 CTCF PKNOX1 RAD21 ZNF143 SMC3 ZNF654 BHLHE40 TRIM22 CEBPB ELF1 PPIP5K2 ENSG00000248203 GIN1 GC05P103227
GH05F103117 0.2 ENCODE 35.8 -0.4 -388 4.6 PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 PPIP5K2 GC05P103117
GH05F103111 0.9 Ensembl ENCODE 35.1 -8.1 -8066 1.4 PPIP5K2 GC05P103117 PIR47700
GH05F103217 1 Ensembl ENCODE 34.5 +98.1 98056 1.9 BCOR CTCF ZNF280D CEBPB EP300 JUND MAFF ZNF580 MAFK SP7 PPIP5K2 ENSG00000248203 GC05P103227 GIN1
GH05F103056 1 Ensembl ENCODE 34.3 -62.7 -62733 1.2 ATF1 PTRF ELK1 GATA2 FOS KLF13 ZBTB11 HDAC8 ZNF592 CREB3 PPIP5K2 LOC105379105 EIF3KP1
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PPIP5K2 on UCSC Golden Path with GeneCards custom track

Promoters for PPIP5K2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001286574 51 4401 PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2

Genomic Location for PPIP5K2 Gene

Chromosome:
5
Start:
103,120,149 bp from pter
End:
103,212,799 bp from pter
Size:
92,651 bases
Orientation:
Plus strand

Genomic View for PPIP5K2 Gene

Genes around PPIP5K2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PPIP5K2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PPIP5K2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PPIP5K2 Gene

Proteins for PPIP5K2 Gene

  • Protein details for PPIP5K2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43314-VIP2_HUMAN
    Recommended name:
    Inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2
    Protein Accession:
    O43314
    Secondary Accessions:
    • A1NI53
    • A6NGS8
    • Q8TB50

    Protein attributes for PPIP5K2 Gene

    Size:
    1243 amino acids
    Molecular mass:
    140407 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAA24863.2; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=EAW49076.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PPIP5K2 Gene

    Alternative splice isoforms for PPIP5K2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PPIP5K2 Gene

Post-translational modifications for PPIP5K2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for PPIP5K2 Gene

Domains & Families for PPIP5K2 Gene

Protein Domains for PPIP5K2 Gene

Suggested Antigen Peptide Sequences for PPIP5K2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O43314

UniProtKB/Swiss-Prot:

VIP2_HUMAN :
  • The C-terminal acid phosphatase-like domain binds PtdIns(3,4,5)P3 and InsP6. Despite its similarity with the phosphatase domain of histidine acid phosphatases, it has no phosphatase activity.
  • Belongs to the histidine acid phosphatase family. VIP1 subfamily.
Domain:
  • The C-terminal acid phosphatase-like domain binds PtdIns(3,4,5)P3 and InsP6. Despite its similarity with the phosphatase domain of histidine acid phosphatases, it has no phosphatase activity.
Family:
  • Belongs to the histidine acid phosphatase family. VIP1 subfamily.
genes like me logo Genes that share domains with PPIP5K2: view

No data available for Gene Families for PPIP5K2 Gene

Function for PPIP5K2 Gene

Molecular function for PPIP5K2 Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.13 uM for InsP6 {ECO:0000269 PubMed:17690096}; KM=0.19 uM for InsP7 {ECO:0000269 PubMed:17690096}; Vmax=0.39 nmol/min/mg enzyme with InsP6 as substrate {ECO:0000269 PubMed:17690096}; Vmax=1.38 nmol/min/mg enzyme with InsP7 as substrate {ECO:0000269 PubMed:17690096};
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol hexakisphosphate = ADP + 1D-myo-inositol 5-diphosphate 1,2,3,4,6-pentakisphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol 1-diphosphate 2,3,4,5,6-pentakisphosphate = ADP + 1D-myo-inositol 1,5-bis(diphosphate) 2,3,4,6-tetrakisphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol 5-diphosphate 1,2,3,4,6-pentakisphosphate = ADP + 1D-myo-inositol 1,5-bis(diphosphate) 2,3,4,6-tetrakisphosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + 1D-myo-inositol hexakisphosphate = ADP + 1D-myo-inositol 1-diphosphate 2,3,4,5,6-pentakisphosphate.
UniProtKB/Swiss-Prot 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 tetrakisphosphate, (PP)2-InsP4. PP-InsP5 and (PP)2-InsP4, also respectively called InsP7 and InsP8, regulate a variety of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling and neutrophil activation. Phosphorylates inositol hexakisphosphate (InsP6) at positions 1 or 3 to produce PP-InsP5 which is in turn phosphorylated by IP6Ks to produce (PP)2-InsP4. Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4.

Enzyme Numbers (IUBMB) for PPIP5K2 Gene

Gene Ontology (GO) - Molecular Function for PPIP5K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000827 inositol-1,3,4,5,6-pentakisphosphate kinase activity ISS --
GO:0000828 inositol hexakisphosphate kinase activity IEA,TAS --
GO:0000829 inositol heptakisphosphate kinase activity IBA,TAS --
GO:0000832 inositol hexakisphosphate 5-kinase activity ISS --
GO:0003993 acid phosphatase activity IEA --
genes like me logo Genes that share ontologies with PPIP5K2: view
genes like me logo Genes that share phenotypes with PPIP5K2: view

Animal Model Products

miRNA for PPIP5K2 Gene

miRTarBase miRNAs that target PPIP5K2

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PPIP5K2 Gene

Localization for PPIP5K2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PPIP5K2 Gene

Cytoplasm, cytosol.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PPIP5K2 Gene COMPARTMENTS Subcellular localization image for PPIP5K2 gene
Compartment Confidence
cytosol 5
nucleus 2

Gene Ontology (GO) - Cellular Components for PPIP5K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol ISS,TAS --
genes like me logo Genes that share ontologies with PPIP5K2: view

Pathways & Interactions for PPIP5K2 Gene

genes like me logo Genes that share pathways with PPIP5K2: view

Pathways by source for PPIP5K2 Gene

Interacting Proteins for PPIP5K2 Gene

Gene Ontology (GO) - Biological Process for PPIP5K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006020 inositol metabolic process ISS --
GO:0016310 phosphorylation IEA --
GO:0016311 dephosphorylation IEA --
GO:0032958 inositol phosphate biosynthetic process IBA --
GO:0043647 inositol phosphate metabolic process TAS --
genes like me logo Genes that share ontologies with PPIP5K2: view

No data available for SIGNOR curated interactions for PPIP5K2 Gene

Drugs & Compounds for PPIP5K2 Gene

(1) Drugs for PPIP5K2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0

(2) Additional Compounds for PPIP5K2 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Diphosphoinositol pentakisphosphate
  • 1,2,3,4,6-Pentakis-O-phosphono-1D-myo-inositol 5-(trihydrogen diphosphate)
  • 1D-Myo-inositol 5-diphosphate pentakisphosphate
  • 5-Diphospho-1D-myo-inositol 1,2,3,4,6-pentakisphosphate
  • 5-Diphospho-1D-myo-inositol pentakisphosphate
  • 5-PP-InsP5
ADP
  • Adenosindiphosphorsaeure
  • Adenosine 5'-pyrophosphate
  • Adenosine diphosphate
  • Adenosine pyrophosphate
  • Adenosine-5'-diphosphate
Full agonist, Agonist 58-64-0
genes like me logo Genes that share compounds with PPIP5K2: view

Transcripts for PPIP5K2 Gene

Unigene Clusters for PPIP5K2 Gene

Diphosphoinositol pentakisphosphate kinase 2:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PPIP5K2 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16a · 16b · 16c ^ 17 ^ 18 ^
SP1:
SP2:
SP3: - -
SP4:
SP5:
SP6: - - - - -
SP7: - - - - -
SP8:
SP9: -
SP10:

ExUns: 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23a · 23b ^ 24a · 24b ^ 25 ^ 26
SP1: - - -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:

Relevant External Links for PPIP5K2 Gene

GeneLoc Exon Structure for
PPIP5K2
ECgene alternative splicing isoforms for
PPIP5K2

Expression for PPIP5K2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PPIP5K2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PPIP5K2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (17.9) and Lymph node (12.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PPIP5K2 Gene



Protein tissue co-expression partners for PPIP5K2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PPIP5K2 Gene:

PPIP5K2

SOURCE GeneReport for Unigene cluster for PPIP5K2 Gene:

Hs.212046
genes like me logo Genes that share expression patterns with PPIP5K2: view

Primer Products

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PPIP5K2 Gene

Orthologs for PPIP5K2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PPIP5K2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PPIP5K2 34 35
  • 99.9 (n)
dog
(Canis familiaris)
Mammalia PPIP5K2 34 35
  • 95.2 (n)
cow
(Bos Taurus)
Mammalia PPIP5K2 34 35
  • 94.35 (n)
mouse
(Mus musculus)
Mammalia Ppip5k2 34 16 35
  • 88.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PPIP5K2 35
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PPIP5K2 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves PPIP5K2 34 35
  • 83.14 (n)
lizard
(Anolis carolinensis)
Reptilia PPIP5K2 35
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18971 34
zebrafish
(Danio rerio)
Actinopterygii ppip5k2 34 35
  • 74.73 (n)
fruit fly
(Drosophila melanogaster)
Insecta l(1)G0196 34 35
  • 64.03 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000926 34
  • 60.22 (n)
worm
(Caenorhabditis elegans)
Secernentea F46F11.1 34 35
  • 57.86 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VIP1 35
  • 28 (a)
OneToMany
thale cress
(Arabidopsis thaliana)
eudicotyledons AT3G01310 34
  • 57.31 (n)
rice
(Oryza sativa)
Liliopsida Os03g0689100 34
  • 56.45 (n)
Os.19164 34
sea squirt
(Ciona savignyi)
Ascidiacea CSA.643 35
  • 64 (a)
OneToMany
Species where no ortholog for PPIP5K2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for PPIP5K2 Gene

ENSEMBL:
Gene Tree for PPIP5K2 (if available)
TreeFam:
Gene Tree for PPIP5K2 (if available)

Paralogs for PPIP5K2 Gene

Paralogs for PPIP5K2 Gene

(7) SIMAP similar genes for PPIP5K2 Gene using alignment to 8 proteins:

Pseudogenes.org Pseudogenes for PPIP5K2 Gene

genes like me logo Genes that share paralogs with PPIP5K2: view

Variants for PPIP5K2 Gene

Sequence variations from dbSNP and Humsavar for PPIP5K2 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type
rs864622022 Uncertain significance 103,168,069(+) TGTTT(-/TAGA)TATTC intron-variant
rs10042106 -- 103,130,397(+) ACAGA(C/T)CTACA intron-variant
rs10066532 -- 103,142,082(+) agcag(A/G)gggtg intron-variant
rs10479248 -- 103,183,453(+) ATTCA(A/G)AGCAA intron-variant, downstream-variant-500B
rs10555111 -- 103,118,750(+) AGTTG(-/T)TTTTT intron-variant, upstream-variant-2KB, utr-variant-5-prime

Structural Variations from Database of Genomic Variants (DGV) for PPIP5K2 Gene

Variant ID Type Subtype PubMed ID
dgv5751n100 CNV loss 25217958
esv3606059 CNV gain 21293372
nsv1018670 CNV loss 25217958
nsv1029894 CNV gain 25217958
nsv830430 CNV gain 17160897
nsv950109 CNV deletion 24416366

Variation tolerance for PPIP5K2 Gene

Residual Variation Intolerance Score: 2.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.41; 63.74% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PPIP5K2 Gene

Human Gene Mutation Database (HGMD)
PPIP5K2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PPIP5K2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PPIP5K2 Gene

Disorders for PPIP5K2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for PPIP5K2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
autism spectrum disorder
  • pervasive development disorder
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for PPIP5K2

Human Genome Epidemiology (HuGE) Navigator
PPIP5K2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PPIP5K2
genes like me logo Genes that share disorders with PPIP5K2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PPIP5K2 Gene

Publications for PPIP5K2 Gene

  1. Cloning and characterization of two human VIP1-like inositol hexakisphosphate and diphosphoinositol pentakisphosphate kinases. (PMID: 17690096) Fridy P.C. … York J.D. (J. Biol. Chem. 2007) 2 3 4 64
  2. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PMID: 9455477) Ishikawa K. … Ohara O. (DNA Res. 1997) 2 3 4 64
  3. Structural basis for an inositol pyrophosphate kinase surmounting phosphate crowding. (PMID: 22119861) Wang H. … Shears S.B. (Nat. Chem. Biol. 2012) 3 4 64
  4. Structural analysis and detection of biological inositol pyrophosphates reveal that the family of VIP/diphosphoinositol pentakisphosphate kinases are 1/3-kinases. (PMID: 18981179) Lin H. … Mayr G.W. (J. Biol. Chem. 2009) 2 3 64
  5. Purification, sequencing, and molecular identification of a mammalian PP-InsP5 kinase that is activated when cells are exposed to hyperosmotic stress. (PMID: 17702752) Choi J.H. … Shears S.B. (J. Biol. Chem. 2007) 3 4 64

Products for PPIP5K2 Gene

Sources for PPIP5K2 Gene

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