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 si... See more...

Aliases for PPIP5K2 Gene

Aliases for PPIP5K2 Gene

  • Diphosphoinositol Pentakisphosphate Kinase 2 2 3 4 5
  • VIP2 2 3 4
  • Inositol Hexakisphosphate And Diphosphoinositol-Pentakisphosphate Kinase 2 3 4
  • Histidine Acid Phosphatase Domain-Containing Protein 1 3 4
  • Deafness, Autosomal Recessive 100 2 3
  • InsP6 And PP-IP5 Kinase 2 3 4
  • VIP1 Homolog 2 3 4
  • KIAA0433 2 4
  • CFAP160 2 3
  • HISPPD1 3 4
  • Histidine Acid Phosphatase Domain Containing 1 2
  • Inositol Heptaphosphate Kinase 2 3
  • EC 2.7.4.21 4
  • EC 2.7.4.24 4
  • DFNB100 3
  • PPIP5K2 5
  • HsVIP2 4
  • IP7K2 3

External Ids for PPIP5K2 Gene

Previous HGNC Symbols for PPIP5K2 Gene

  • HISPPD1
  • DFNB100

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 Deafness, Autosomal Recessive 100 and Autosomal Recessive Non-Syndromic Sensorineural Deafness Type Dfnb. Among its related pathways are Metabolism and Inositol phosphate metabolism. Gene Ontology (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 Summary 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 (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). 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 (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). 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 (PubMed:17690096, PubMed:17702752). Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Required for normal hearing (PubMed:29590114).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PPIP5K2 Gene

Genomics for PPIP5K2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PPIP5K2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH05J103117 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE CraniofacialAtlas 303.8 0.0 -8 5.3 BCLAF1 SP1 ZNF207 ZNF600 MYC NCOR1 SIX5 ZNF580 ATF2 POLR2A PPIP5K2 GIN1 HSALNG0043889 lnc-NUDT12-10 PAM
GH05J103257 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 30.3 +140.4 140395 5.9 SP1 MYC IKZF1 ZNF600 ZNF580 ZNF592 ZNF223 ZNF10 POLR2A NFIC MACIR PPIP5K2 lnc-GIN1-2 NUDT12
GH05J103056 Enhancer 1 Ensembl ENCODE 44.4 -62.7 -62733 1.2 NCOR1 IKZF1 ZNF592 EP300 NFE2 RELA ATF1 STAT5A IRF9 EHMT2 PPIP5K2 LOC105379105 EIF3KP1 GIN1 PAM
GH05J103224 Enhancer 0.7 ENCODE 44.5 +104.6 104596 0.2 MYC ZNF654 CTCF REST CEBPB TRIM22 BHLHE40 ZNF341 MNT ZNF217 PPIP5K2 ENSG00000248203 GIN1 HSALNG0043892 MACIR
GH05J103217 Enhancer 0.8 Ensembl ENCODE 34.5 +97.2 97224 3.5 ZNF580 NFIC CEBPB FEZF1 EP300 ZNF843 BCL11B PRDM6 MAFK MAFF PPIP5K2 ENSG00000248203 PAM HSALNG0043892 MACIR GIN1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PPIP5K2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PPIP5K2

Genomic Locations for PPIP5K2 Gene

Latest Assembly
chr5:103,120,149-103,212,799
(GRCh38/hg38)
Size:
92,651 bases
Orientation:
Plus strand

Previous Assembly
chr5:102,456,005-102,548,500
(GRCh37/hg19 by Entrez Gene)
Size:
92,496 bases
Orientation:
Plus strand

chr5:102,455,853-102,548,500
(GRCh37/hg19 by Ensembl)
Size:
92,648 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=Extended N-terminus.; 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

Gene Families for PPIP5K2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for PPIP5K2 Gene

InterPro:
Blocks:
  • Histidine acid phosphatase

Suggested Antigen Peptide Sequences for PPIP5K2 Gene

GenScript: Design optimal peptide antigens:
  • VIP1 homolog 2 (VIP2_HUMAN)

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

Function for PPIP5K2 Gene

Molecular function for PPIP5K2 Gene

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 (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). 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 (PubMed:17690096, PubMed:17702752, PubMed:21222653, PubMed:29590114). 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 (PubMed:17690096, PubMed:17702752). Alternatively, phosphorylates at position 1 or 3 PP-InsP5, produced by IP6Ks from InsP6, to produce (PP)2-InsP4 (PubMed:17690096, PubMed:17702752). Required for normal hearing (PubMed:29590114).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol hexakisphosphate + ATP = 5-diphospho-1D-myo-inositol 1,2,3,4,6-pentakisphosphate + ADP; Xref=Rhea:RHEA:12793, ChEBI:CHEBI:30616, ChEBI:CHEBI:58130, ChEBI:CHEBI:58628, ChEBI:CHEBI:456216; EC=2.7.4.21; Evidence={ECO:0000269|PubMed:21222653};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1-diphospho-myo-inositol 2,3,4,5,6-pentakisphosphate + ATP + H(+) = 1,5-bis(diphospho)-1D-myo-inositol 2,3,4,6-tetrakisphosphate + ADP; Xref=Rhea:RHEA:37467, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:74946, ChEBI:CHEBI:77983, ChEBI:CHEBI:456216; EC=2.7.4.21; Evidence={ECO:0000269|PubMed:21222653};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol hexakisphosphate + ATP = 1-diphospho-myo-inositol 2,3,4,5,6-pentakisphosphate + ADP; Xref=Rhea:RHEA:37459, ChEBI:CHEBI:30616, ChEBI:CHEBI:58130, ChEBI:CHEBI:74946, ChEBI:CHEBI:456216; EC=2.7.4.24; Evidence={ECO:0000269|PubMed:21222653, ECO:0000269|PubMed:29590114};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=5-diphospho-1D-myo-inositol 1,2,3,4,6-pentakisphosphate + ATP + H(+) = 1,5-bis(diphospho)-1D-myo-inositol 2,3,4,6-tetrakisphosphate + ADP; Xref=Rhea:RHEA:10276, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:58628, ChEBI:CHEBI:77983, ChEBI:CHEBI:456216; EC=2.7.4.24; Evidence={ECO:0000269|PubMed:21222653, ECO:0000269|PubMed:29590114};.
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};

Enzyme Numbers (IUBMB) for PPIP5K2 Gene

Phenotypes From GWAS Catalog for PPIP5K2 Gene

Gene Ontology (GO) - Molecular Function for PPIP5K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000827 inositol-1,3,4,5,6-pentakisphosphate kinase activity IEA,ISS --
GO:0000828 inositol hexakisphosphate kinase activity IBA,IDA 17690096
GO:0000829 inositol heptakisphosphate kinase activity IEA,IBA 21873635
GO:0000832 inositol hexakisphosphate 5-kinase activity IEA,ISS --
genes like me logo Genes that share ontologies with PPIP5K2: view
genes like me logo Genes that share phenotypes with PPIP5K2: view

Human Phenotype Ontology for PPIP5K2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PPIP5K2 Gene

MGI Knock Outs for PPIP5K2:
  • Ppip5k2 Ppip5k2<tm1b(EUCOMM)Wtsi>

miRNA for PPIP5K2 Gene

miRTarBase miRNAs that target PPIP5K2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPIP5K2

No data available for 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PPIP5K2 gene
Compartment Confidence
cytosol 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PPIP5K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IEA,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

Gene Ontology (GO) - Biological Process for PPIP5K2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006020 inositol metabolic process ISS --
GO:0007605 sensory perception of sound IEA --
GO:0016310 phosphorylation IEA --
GO:0032958 inositol phosphate biosynthetic process IBA 21873635
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
ATP Investigational Nutra 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5-Diphosphoinositol pentakisphosphate
  • (1R,2R,3S,4S,5R,6S)-2,3,4,5,6-Pentakis(phosphonooxy)cyclohexyl trihydrogen diphosphate
  • 1D-Myo-inositol 5-diphosphate 1,2,3,4,6-pentakisphosphate
  • 1D-Myo-inositol 5-diphosphate pentakisphosphate
  • 5-PP-InsP5
  • (1R,2R,3S,4S,5R,6S)-2,3,4,5,6-Pentakis(phosphonooxy)cyclohexyl trihydrogen diphosphoric acid
148077-18-3
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
genes like me logo Genes that share compounds with PPIP5K2: view

Transcripts for PPIP5K2 Gene

mRNA/cDNA for PPIP5K2 Gene

11 REFSEQ mRNAs :
7 NCBI additional mRNA sequence :
17 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PPIP5K2

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

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, MaxQB, and MOPED for PPIP5K2 Gene



Protein tissue co-expression partners for PPIP5K2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PPIP5K2

SOURCE GeneReport for Unigene cluster for PPIP5K2 Gene:

Hs.212046

Evidence on tissue expression from TISSUES for PPIP5K2 Gene

  • Nervous system(4.5)
  • Liver(4.2)
  • Kidney(2)
genes like me logo Genes that share expression patterns with PPIP5K2: view

Primer products for research

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 29 30
  • 99.9 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PPIP5K2 29 30
  • 95.2 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PPIP5K2 29 30
  • 94.35 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ppip5k2 29 16 30
  • 88.61 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PPIP5K2 30
  • 86 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PPIP5K2 30
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PPIP5K2 29 30
  • 83.14 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PPIP5K2 30
  • 85 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.18971 29
Zebrafish
(Danio rerio)
Actinopterygii ppip5k2 29 30
  • 74.73 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta l(1)G0196 29 30
  • 64.03 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000926 29
  • 60.22 (n)
Worm
(Caenorhabditis elegans)
Secernentea F46F11.1 29 30
  • 57.86 (n)
OneToMany
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes VIP1 30
  • 28 (a)
OneToMany
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT3G01310 29
  • 57.31 (n)
Rice
(Oryza sativa)
Liliopsida Os03g0689100 29
  • 56.45 (n)
Os.19164 29
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.643 30
  • 64 (a)
OneToMany
Species where no ortholog for PPIP5K2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for PPIP5K2: view image
Alliance of Genome Resources:
Additional Orthologs for PPIP5K2

Paralogs for PPIP5K2 Gene

Paralogs for PPIP5K2 Gene

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

  • VIP2_HUMAN
  • D6RBU4_HUMAN
  • D6RFG4_HUMAN
  • H0Y9M0_HUMAN
  • H0Y9S9_HUMAN
  • K7EJG8_HUMAN
  • K7ENU7_HUMAN
  • K7EPT7_HUMAN

Pseudogenes.org Pseudogenes for PPIP5K2 Gene

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

Variants for PPIP5K2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PPIP5K2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs548137246 Pathogenic: Deafness, autosomal recessive 100. Deafness, autosomal recessive, 100 (DFNB100) [MIM:618422] 103,173,953(+) G/Ap.Arg837His
NM_001276277.3(PPIP5K2):c.2510G>A (p.Arg837His)
MISSENSE
rs58843926 Benign: not provided 103,194,967(+) A/G
NM_001276277.3(PPIP5K2):c.3561A>G (p.Ala1187=)
SYNONYMOUS
rs75479230 Benign: not provided 103,201,547(+) T/A
NM_001276277.3(PPIP5K2):c.3645T>A (p.Val1215=)
SYNONYMOUS
rs864622022 Uncertain Significance: Malignant tumor of prostate 103,168,068(+) TTAGA/T
NM_001276277.3(PPIP5K2):c.2063-1_2065del
SPLICE_ACCEPTOR
rs12519525 -- p.Glu985Lys

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PPIP5K2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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)

Additional Variant Information for PPIP5K2 Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PPIP5K2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for PPIP5K2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
deafness, autosomal recessive 100
  • dfnb100
autosomal recessive non-syndromic sensorineural deafness type dfnb
  • autosomal recessive isolated neurosensory deafness type dfnb
cutaneous anthrax
  • anthrax, skin type
rapp-hodgkin syndrome
  • rhs
autism spectrum disorder
  • asd
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

VIP2_HUMAN
  • Deafness, autosomal recessive, 100 (DFNB100) [MIM:618422]: A form of non-syndromic, sensorineural deafness characterized by prelingual hearing impairment. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269 PubMed:29590114}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PPIP5K2

Human Genome Epidemiology Navigator
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ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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Open Targets Platform
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No data available for Genatlas for PPIP5K2 Gene

Publications for PPIP5K2 Gene

  1. Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. (PMID: 29590114) Yousaf R … Riazuddin S (PLoS genetics 2018) 2 3 4 72
  2. Cloning and characterization of two human VIP1-like inositol hexakisphosphate and diphosphoinositol pentakisphosphate kinases. (PMID: 17690096) Fridy PC … York JD (The Journal of biological chemistry 2007) 2 3 4
  3. 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 research : an international journal for rapid publication of reports on genes and genomes 1997) 2 3 4
  4. Structural basis for an inositol pyrophosphate kinase surmounting phosphate crowding. (PMID: 22119861) Wang H … Shears SB (Nature chemical biology 2011) 3 4
  5. 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 GW (The Journal of biological chemistry 2009) 2 3

Products for PPIP5K2 Gene

Sources for PPIP5K2 Gene