The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation ... See more...

Aliases for ITPKB Gene

Aliases for ITPKB Gene

  • Inositol-Trisphosphate 3-Kinase B 2 3 4 5
  • Inositol 1,4,5-Trisphosphate 3-Kinase B 2 3 4
  • InsP 3-Kinase B 3 4
  • IP3 3-Kinase B 3 4
  • EC 2.7.1.127 4 50
  • IP3-3KB 2 3
  • IP3K B 3 4
  • IP3KB 2 3
  • Proliferation-Inducing Protein 37 3
  • IP3K-B 3
  • PIG37 3
  • ITPKB 5
  • IP3K 3

External Ids for ITPKB Gene

Previous GeneCards Identifiers for ITPKB Gene

  • GC01M225348
  • GC01M222564
  • GC01M223204
  • GC01M223794
  • GC01M223126
  • GC01M224886
  • GC01M226820
  • GC01M197336

Summaries for ITPKB Gene

Entrez Gene Summary for ITPKB Gene

  • The protein encoded by this protein regulates inositol phosphate metabolism by phosphorylation of second messenger inositol 1,4,5-trisphosphate to Ins(1,3,4,5)P4. The activity of this encoded protein is responsible for regulating the levels of a large number of inositol polyphosphates that are important in cellular signaling. Both calcium/calmodulin and protein phosphorylation mechanisms control its activity. [provided by RefSeq, Jul 2008]

GeneCards Summary for ITPKB Gene

ITPKB (Inositol-Trisphosphate 3-Kinase B) is a Protein Coding gene. Diseases associated with ITPKB include Maxillary Cancer and Jaw Cancer. Among its related pathways are superpathway of inositol phosphate compounds and Metabolism. Gene Ontology (GO) annotations related to this gene include calmodulin binding and inositol-1,4,5-trisphosphate 3-kinase activity. An important paralog of this gene is ITPKC.

Gene Wiki entry for ITPKB Gene

No data available for CIViC Summary , UniProtKB/Swiss-Prot Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ITPKB Gene

Genomics for ITPKB Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ITPKB 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 ITPKB on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the ITPKB gene promoter:
  • C/EBPalpha
  • FOXC1
  • NF-kappaB
  • NF-kappaB1
  • p53
  • Pax-5
  • POU2F1
  • POU2F1a
  • PPAR-gamma2

Genomic Locations for ITPKB Gene

Latest Assembly
chr1:226,631,690-226,739,323
(GRCh38/hg38)
Size:
107,634 bases
Orientation:
Minus strand

Previous Assembly
chr1:226,819,391-226,926,983
(GRCh37/hg19 by Entrez Gene)
Size:
107,593 bases
Orientation:
Minus strand

chr1:226,819,391-226,927,024
(GRCh37/hg19 by Ensembl)
Size:
107,634 bases
Orientation:
Minus strand

Genomic View for ITPKB Gene

Genes around ITPKB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for ITPKB Gene

Proteins for ITPKB Gene

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

    Protein Symbol:
    P27987-IP3KB_HUMAN
    Recommended name:
    Inositol-trisphosphate 3-kinase B
    Protein Accession:
    P27987
    Secondary Accessions:
    • Q5VWL9
    • Q5VWM0
    • Q96BZ2
    • Q96JS1
    • Q9UH47

    Protein attributes for ITPKB Gene

    Size:
    946 amino acids
    Molecular mass:
    102376 Da
    Quaternary structure:
    • Interacts with DMTN.
    SequenceCaution:
    • Sequence=CAA40491.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ITPKB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ITPKB Gene

Selected DME Specific Peptides for ITPKB Gene

P27987:
  • EGNREDGYL
  • AKVWMIDFGKT
  • IDFGKTTPLP
  • VDPEAPTEEE
  • RTYLEEELTKAR
  • TLGFRIEGIKK
  • HEVIGSSLLF

Post-translational modifications for ITPKB Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ITPKB Gene

Antibodies for research

  • Abcam antibodies for ITPKB
  • Santa Cruz Biotechnology (SCBT) Antibodies for ITPKB

Domains & Families for ITPKB Gene

Gene Families for ITPKB Gene

IUPHAR :
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ITPKB Gene

InterPro:
Blocks:
  • Inositol polyphosphate kinase

Suggested Antigen Peptide Sequences for ITPKB Gene

GenScript: Design optimal peptide antigens:
  • Inositol 1,4,5-trisphosphate 3-kinase B (IP3KB_HUMAN)
  • cDNA FLJ78152, highly similar to H.sapiens 1D-myo-inositol-trisphosphate 3-kinase B isoenzyme (Q2TU82_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P27987

UniProtKB/Swiss-Prot:

IP3KB_HUMAN :
  • Belongs to the inositol phosphokinase (IPK) family.
Family:
  • Belongs to the inositol phosphokinase (IPK) family.
genes like me logo Genes that share domains with ITPKB: view

Function for ITPKB Gene

Molecular function for ITPKB Gene

UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,4,5-trisphosphate + ATP = 1D-myo-inositol 1,3,4,5-tetrakisphosphate + ADP + H(+); Xref=Rhea:RHEA:11020, ChEBI:CHEBI:15378, ChEBI:CHEBI:30616, ChEBI:CHEBI:57895, ChEBI:CHEBI:203600, ChEBI:CHEBI:456216; EC=2.7.1.127;.
UniProtKB/Swiss-Prot EnzymeRegulation:
IP3K is activated by calmodulin. Form B is much more sensitive to calcium/calmodulin than form A.
GENATLAS Biochemistry:
inositol 1,4,5-triphosphate 3 kinase-B

Enzyme Numbers (IUBMB) for ITPKB Gene

Phenotypes From GWAS Catalog for ITPKB Gene

Gene Ontology (GO) - Molecular Function for ITPKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000828 inositol hexakisphosphate kinase activity IBA 21873635
GO:0005515 protein binding IPI 21516116
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ITPKB: view
genes like me logo Genes that share phenotypes with ITPKB: view

Animal Models for ITPKB Gene

MGI Knock Outs for ITPKB:

Inhibitory RNAs for research

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

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

Localization for ITPKB Gene

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 ITPKB gene
Compartment Confidence
nucleus 4
cytosol 4
plasma membrane 2
extracellular 2
mitochondrion 2
endoplasmic reticulum 2
cytoskeleton 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ITPKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005737 cytoplasm IBA 21873635
GO:0005829 cytosol TAS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ITPKB: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for ITPKB Gene

Pathways & Interactions for ITPKB Gene

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

SIGNOR curated interactions for ITPKB Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for ITPKB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade IEA --
GO:0001932 regulation of protein phosphorylation IEA --
GO:0002262 myeloid cell homeostasis IEA --
GO:0007165 signal transduction TAS 1654894
GO:0007166 cell surface receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with ITPKB: view

Drugs & Compounds for ITPKB Gene

(4) Drugs for ITPKB Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
myo-Inositol 1,4,5-trisphosphate Experimental Pharma 0
ATP Investigational Nutra 0
Calcium Nutra 6959

(3) Additional Compounds for ITPKB Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
ADP
  • 5'-Adenylphosphoric acid
  • Adenosine 5'-diphosphate
  • ADENOSINE-5'-diphosphATE
  • H3ADP
  • 5'-Adenylphosphate
58-64-0
myo-Inositol 1,3,4,5-tetrakisphosphate
  • D-Myo-inositol 1,3,4,5-tetrakisphosphate
  • D-Myo-inositol 1,3,4,5-tetrakisphosphoric acid
  • Inositol 1,3,4,5-tetrakisphosphoric acid
  • Inositol 1,3,4,5-tetrakisphosphate
  • 1D-myo-Inositol 1,3,4,5-tetrakisphosphoric acid
99610-76-1
genes like me logo Genes that share compounds with ITPKB: view

Transcripts for ITPKB Gene

mRNA/cDNA for ITPKB Gene

2 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
3 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 ITPKB

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

No ASD Table

Relevant External Links for ITPKB Gene

GeneLoc Exon Structure for
ITPKB

Expression for ITPKB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ITPKB Gene

This gene is overexpressed in Peripheral blood mononuclear cells (22.5), Bone marrow mesenchymal stem cell (9.2), and Spinal cord (6.3).

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



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

SOURCE GeneReport for Unigene cluster for ITPKB Gene:

Hs.528087

Evidence on tissue expression from TISSUES for ITPKB Gene

  • Nervous system(4.8)
  • Blood(4.4)
  • Skin(4.4)
  • Intestine(4.4)
  • Liver(4.2)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with ITPKB: view

Primer products for research

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ITPKB Gene

Orthologs for ITPKB Gene

This gene was present in the common ancestor of animals.

Orthologs for ITPKB Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ITPKB 29 30
  • 99.12 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ITPKB 30
  • 90 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ITPKB 29 30
  • 85 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ITPKB 29 30
  • 82.86 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Itpkb 29 16 30
  • 81.67 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Itpkb 29
  • 80.74 (n)
Oppossum
(Monodelphis domestica)
Mammalia ITPKB 30
  • 36 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ITPKB 29 30
  • 78.15 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ITPKB 30
  • 77 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia itpkb 29
  • 64.46 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13865 29
Zebrafish
(Danio rerio)
Actinopterygii itpkb 29 30
  • 66.67 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta IP3K2 29 30 31
  • 62.73 (n)
OneToMany
IP3K1 31
  • 37 (a)
Worm
(Caenorhabditis elegans)
Secernentea lfe-2 30 31
  • 27 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 49 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3402 29
Species where no ortholog for ITPKB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 (Oryza sativa)
  • 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)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for ITPKB Gene

ENSEMBL:
Gene Tree for ITPKB (if available)
TreeFam:
Gene Tree for ITPKB (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ITPKB: view image
Alliance of Genome Resources:
Additional Orthologs for ITPKB

Paralogs for ITPKB Gene

Paralogs for ITPKB Gene

(3) SIMAP similar genes for ITPKB Gene using alignment to 1 proteins:

  • IP3KB_HUMAN
genes like me logo Genes that share paralogs with ITPKB: view

Variants for ITPKB Gene

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

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs16846447 Benign: not provided 226,736,868(-) G/T
NM_002221.3(ITPKB):c.591C>A (p.Ser197Arg)
MISSENSE
rs35957083 Benign: not provided 226,736,500(-) T/G
NM_002221.3(ITPKB):c.959A>C (p.Asp320Ala)
MISSENSE
rs55822534 Benign: not provided 226,735,683(-) G/A
NM_002221.3(ITPKB):c.1776C>T (p.Asn592=)
SYNONYMOUS
rs56317152 Benign: not provided 226,634,872(-) G/C
NM_002221.3(ITPKB):c.2640C>G (p.Ser880=)
SYNONYMOUS
rs3754413 -- p.Ala322Thr

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

Variant ID Type Subtype PubMed ID
esv3589015 CNV loss 21293372
esv992736 CNV deletion 20482838
nsv1068547 CNV deletion 25765185
nsv1113222 CNV deletion 24896259
nsv1121714 CNV deletion 24896259
nsv1151390 CNV deletion 26484159
nsv470779 CNV loss 18288195
nsv473166 CNV novel sequence insertion 20440878
nsv4755 CNV insertion 18451855
nsv516277 CNV loss 19592680
nsv522446 CNV loss 19592680
nsv523759 CNV loss 19592680
nsv952129 CNV deletion 24416366

Variation tolerance for ITPKB Gene

Residual Variation Intolerance Score: 83.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 15.42; 97.13% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ITPKB Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for ITPKB Gene

MalaCards: The human disease database

(2) MalaCards diseases for ITPKB Gene - From: COP

Disorder Aliases PubMed IDs
maxillary cancer
  • maxillary neoplasm
jaw cancer
  • jaw neoplasm
- elite association - COSMIC cancer census association via MalaCards
Search ITPKB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ITPKB

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

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

Publications for ITPKB Gene

  1. Cloning and expression of a full-length cDNA encoding human inositol 1,4,5-trisphosphate 3-kinase B. (PMID: 11846419) Dewaste V … Erneux C (Biochemical and biophysical research communications 2002) 3 4 22
  2. Molecular cloning and expression of a new putative inositol 1,4,5-trisphosphate 3-kinase isoenzyme. (PMID: 1654894) Takazawa K … Erneux C (The Biochemical journal 1991) 2 3 4
  3. Headpiece domain of dematin regulates calcium mobilization and signaling in platelets. (PMID: 23060452) Wieschhaus AJ … Chishti AH (The Journal of biological chemistry 2012) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  5. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 40

Products for ITPKB Gene

Sources for ITPKB Gene