The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010] See more...

Aliases for IPPK Gene

Aliases for IPPK Gene

  • Inositol-Pentakisphosphate 2-Kinase 2 3 4 5
  • Inositol 1,3,4,5,6-Pentakisphosphate 2-Kinase 2 3
  • Ins(1,3,4,5,6)P5 2-Kinase 3 4
  • InsP5 2-Kinase 3 4
  • IPK1 Homolog 3 4
  • EC 2.7.1.158 4 51
  • C9orf12 3 4
  • INSP5K2 2 3
  • IP5K 2 3
  • IPK1 2 3
  • Inositol-1,3,4,5,6-Pentakisphosphate 2-Kinase 4
  • Chromosome 9 Open Reading Frame 12 2
  • BA476B13.1 (Novel Protein) 3
  • BA476B13.1 3
  • FLJ13163 2
  • IPPK 5

External Ids for IPPK Gene

Previous HGNC Symbols for IPPK Gene

  • C9orf12

Previous GeneCards Identifiers for IPPK Gene

  • GC09M092457
  • GC09M094415
  • GC09M095375
  • GC09M065053

Summaries for IPPK Gene

Entrez Gene Summary for IPPK Gene

  • The protein encoded by this gene is a kinase that phosphorylates position 2 of inositol-1,3,4,5,6-pentakisphosphate to form inositol-1,2,3,4,5,6-hexakisphosphate (InsP6). InsP6 has a variety of functions, including stimulation of DNA repair, endocytosis, and mRNA export. [provided by RefSeq, Nov 2010]

GeneCards Summary for IPPK Gene

IPPK (Inositol-Pentakisphosphate 2-Kinase) is a Protein Coding gene. Diseases associated with IPPK include Lethal Congenital Contracture Syndrome 1 and Spastic Paraplegia 63, Autosomal Recessive. Among its related pathways are Inositol phosphate metabolism (REACTOME) and Inositol phosphate metabolism (KEGG). Gene Ontology (GO) annotations related to this gene include inositol pentakisphosphate 2-kinase activity.

UniProtKB/Swiss-Prot Summary for IPPK Gene

  • Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis.

Additional gene information for IPPK Gene

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

Genomics for IPPK Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for IPPK Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

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

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

Top Transcription factor binding sites by QIAGEN in the IPPK gene promoter:
  • FOXO1
  • FOXO1a
  • GATA-1
  • GATA-2
  • GATA-3
  • Hlf
  • NF-E2
  • NF-E2 p45
  • Nkx2-5
  • XBP-1

Genomic Locations for IPPK Gene

Genomic Locations for IPPK Gene
chr9:92,613,183-92,670,259
(GRCh38/hg38)
Size:
57,077 bases
Orientation:
Minus strand
chr9:95,375,466-95,432,547
(GRCh37/hg19)
Size:
57,082 bases
Orientation:
Minus strand

Genomic View for IPPK Gene

Genes around IPPK on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for IPPK Gene

Proteins for IPPK Gene

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

    Protein Symbol:
    Q9H8X2-IPPK_HUMAN
    Recommended name:
    Inositol-pentakisphosphate 2-kinase
    Protein Accession:
    Q9H8X2
    Secondary Accessions:
    • Q5T9F7
    • Q9H7V8

    Protein attributes for IPPK Gene

    Size:
    491 amino acids
    Molecular mass:
    56017 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=BAB14866.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for IPPK Gene

Selected DME Specific Peptides for IPPK Gene

Q9H8X2:
  • LQIDGPYDE
  • TAKDCSIMI

Post-translational modifications for IPPK Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for IPPK Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for IPPK Gene

Gene Families for IPPK Gene

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

Protein Domains for IPPK Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for IPPK Gene

GenScript: Design optimal peptide antigens:
  • Ins(1,3,4,5,6)P5 2-kinase (IPPK_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9H8X2

UniProtKB/Swiss-Prot:

IPPK_HUMAN :
  • The EXKPK motif is conserved in inositol-pentakisphosphate 2-kinases of both family 1 and 2.
  • Belongs to the IPK1 type 2 family.
Domain:
  • The EXKPK motif is conserved in inositol-pentakisphosphate 2-kinases of both family 1 and 2.
Family:
  • Belongs to the IPK1 type 2 family.
genes like me logo Genes that share domains with IPPK: view

Function for IPPK Gene

Molecular function for IPPK Gene

UniProtKB/Swiss-Prot Function:
Phosphorylates Ins(1,3,4,5,6)P5 at position 2 to form Ins(1,2,3,4,5,6)P6 (InsP6 or phytate). InsP6 is involved in many processes such as mRNA export, non-homologous end-joining, endocytosis, ion channel regulation. It also protects cells from TNF-alpha-induced apoptosis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,3,4,5,6-pentakisphosphate + ATP = 1D-myo-inositol hexakisphosphate + ADP + H(+); Xref=Rhea:RHEA:20313, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57733, ChEBI:CHEBI:58130, ChEBI:CHEBI:456216; EC=2.7.1.158; Evidence={ECO:0000269|PubMed:12084730};.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=0.43 uM for Ins(1,3,4,5,6)P5 {ECO:0000269|PubMed:12084730}; KM=21 uM for ATP {ECO:0000269|PubMed:12084730}; Vmax=31 nmol/min/mg enzyme {ECO:0000269|PubMed:12084730};

Enzyme Numbers (IUBMB) for IPPK Gene

Phenotypes From GWAS Catalog for IPPK Gene

Gene Ontology (GO) - Molecular Function for IPPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0005515 protein binding IPI 23203802
GO:0005524 ATP binding IEA --
GO:0016301 kinase activity IEA --
GO:0016740 transferase activity IEA --
genes like me logo Genes that share ontologies with IPPK: view
genes like me logo Genes that share phenotypes with IPPK: view

Animal Models for IPPK Gene

MGI Knock Outs for IPPK:
  • Ippk Ippk<tm1b(KOMP)Wtsi>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

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

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for IPPK Gene

Localization for IPPK Gene

Subcellular locations from UniProtKB/Swiss-Prot for IPPK Gene

Cytoplasm. Nucleus.

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 IPPK gene
Compartment Confidence
nucleus 5
cytosol 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
peroxisome 1
endoplasmic reticulum 1
endosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for IPPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0005730 nucleolus IMP 23203802
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
genes like me logo Genes that share ontologies with IPPK: view

Pathways & Interactions for IPPK Gene

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

Gene Ontology (GO) - Biological Process for IPPK Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016310 phosphorylation IEA --
GO:0032958 inositol phosphate biosynthetic process IBA 21873635
GO:0043647 inositol phosphate metabolic process TAS --
GO:0052746 inositol phosphorylation IDA 12084730
GO:1901838 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I IMP 23203802
genes like me logo Genes that share ontologies with IPPK: view

No data available for SIGNOR curated interactions for IPPK Gene

Drugs & Compounds for IPPK Gene

(2) Drugs for IPPK Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Fytic acid Investigational Pharma 0
ATP Investigational Nutra Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation 0

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

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
Agonist, Full agonist, Partial agonist, Gating inhibitor, Antagonist 58-64-0
Inositol 1,3,4,5,6-pentakisphosphate
  • 1D-myo-Inositol 1,3,4,5,6-pentakisphosphate
  • D-myo-Inositol 1,3,4,5,6-pentakisphosphate
  • 1D-myo-Inositol 1,3,4,5,6-pentakisphosphoric acid
  • Inositol 1,3,4,5,6-pentakisphosphoric acid
  • D-myo-Inositol 1,3,4,5,6-pentakisphosphoric acid
20298-95-7
genes like me logo Genes that share compounds with IPPK: view

Transcripts for IPPK Gene

mRNA/cDNA for IPPK Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

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

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

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b · 9c ^ 10a · 10b ^ 11a · 11b ^ 12 ^ 13a · 13b · 13c
SP1: - -
SP2: - - -
SP3:
SP4:

Relevant External Links for IPPK Gene

GeneLoc Exon Structure for
IPPK

Expression for IPPK Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for IPPK Gene

This gene is overexpressed in Esophagus - Mucosa (x4.5).

Protein differential expression in normal tissues from HIPED for IPPK Gene

This gene is overexpressed in Serum (68.4).

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



Protein tissue co-expression partners for IPPK Gene

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

SOURCE GeneReport for Unigene cluster for IPPK Gene:

Hs.459896

mRNA Expression by UniProt/SwissProt for IPPK Gene:

Q9H8X2-IPPK_HUMAN
Tissue specificity: Ubiquitously expressed, with high expression in heart, brain, testis and placenta.

Evidence on tissue expression from TISSUES for IPPK Gene

  • Nervous system(4.5)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with IPPK: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for IPPK Gene

Orthologs for IPPK Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for IPPK Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia IPPK 30 31
  • 99.73 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia IPPK 31
  • 91 (a)
OneToOne
LOC521083 30
  • 87.64 (n)
Rat
(Rattus norvegicus)
Mammalia Ippk 30
  • 88 (n)
Mouse
(Mus musculus)
Mammalia Ippk 30 17 31
  • 87.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia IPPK 30 31
  • 87.46 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 87 (a)
OneToMany
-- 31
  • 74 (a)
OneToMany
Oppossum
(Monodelphis domestica)
Mammalia IPPK 31
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves IPPK 30 31
  • 74.88 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia IPPK 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ippk 30
  • 68.51 (n)
Str.9767 30
Zebrafish
(Danio rerio)
Actinopterygii ippk 30 31
  • 61.8 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Ipk1 31
  • 17 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons IPK1 30
  • 46.94 (n)
Rice
(Oryza sativa)
Liliopsida Os04g0661200 30
  • 48.99 (n)
Species where no ortholog for IPPK was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • 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)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for IPPK Gene

ENSEMBL:
Gene Tree for IPPK (if available)
TreeFam:
Gene Tree for IPPK (if available)
Aminode:
Evolutionary constrained regions (ECRs) for IPPK: view image

Paralogs for IPPK Gene

Pseudogenes.org Pseudogenes for IPPK Gene

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

No data available for Paralogs for IPPK Gene

Variants for IPPK Gene

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

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
rs2277168 - p.Arg277Trp
rs2277170 - p.Leu376Phe

Additional dbSNP identifiers (rs#s) for IPPK Gene

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

Variant ID Type Subtype PubMed ID
esv3621086 CNV loss 21293372
nsv950893 CNV deletion 24416366

Variation tolerance for IPPK Gene

Residual Variation Intolerance Score: 51.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.15; 69.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for IPPK Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
IPPK

SNP Genotyping and Copy Number Assay Products

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

Disorders for IPPK Gene

MalaCards: The human disease database

(5) MalaCards diseases for IPPK Gene - From: DISEASES

- elite association - COSMIC cancer census association via MalaCards
Search IPPK in MalaCards View complete list of genes associated with diseases

Additional Disease Information for IPPK

genes like me logo Genes that share disorders with IPPK: view

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

Publications for IPPK Gene

  1. The synthesis of inositol hexakisphosphate. Characterization of human inositol 1,3,4,5,6-pentakisphosphate 2-kinase. (PMID: 12084730) Verbsky JW … Wente SR (The Journal of biological chemistry 2002) 2 3 4 23
  2. Increased levels of inositol hexakisphosphate (InsP6) protect HEK293 cells from tumor necrosis factor (alpha)- and Fas-induced apoptosis. (PMID: 15967797) Verbsky J … Majerus PW (The Journal of biological chemistry 2005) 3 4 23
  3. Hundreds of variants clustered in genomic loci and biological pathways affect human height. (PMID: 20881960) Lango Allen H … Hirschhorn JN (Nature 2010) 3 41
  4. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray SJ … Dunham I (Nature 2004) 3 4
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4

Products for IPPK Gene

Sources for IPPK Gene