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IP6K2 inositol hexakisphosphate kinase 2 [ Homo sapiens (human) ]

Gene ID: 51447, updated on 8-Dec-2022

Summary

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Official Symbol
IP6K2provided by HGNC
Official Full Name
inositol hexakisphosphate kinase 2provided by HGNC
Primary source
HGNC:HGNC:17313
See related
Ensembl:ENSG00000068745 MIM:606992; AllianceGenome:HGNC:17313
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PIUS; IHPK2; InsP6K2
Summary
This gene encodes a protein that belongs to the inositol phosphokinase (IPK) family. This protein is likely responsible for the conversion of inositol hexakisphosphate (InsP6) to diphosphoinositol pentakisphosphate (InsP7/PP-InsP5). It may also convert 1,3,4,5,6-pentakisphosphate (InsP5) to PP-InsP4 and affect the growth suppressive and apoptotic activities of interferon-beta in some ovarian cancers. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
Expression
Ubiquitous expression in bone marrow (RPKM 16.6), skin (RPKM 16.3) and 25 other tissues See more
Orthologs
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Genomic context

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See IP6K2 in Genome Data Viewer
Location:
3p21.31
Exon count:
11
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48688003..48717221, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48716988..48746201, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48725436..48754654, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2585 Neighboring gene Sharpr-MPRA regulatory region 90 Neighboring gene NCK interacting protein with SH3 domain Neighboring gene protein kinase cAMP-dependent type II regulatory subunit alpha Neighboring gene PRKAR2A antisense RNA 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Inositol hexakisphosphate kinase 2 promotes cell death of anterior horn cells in the spinal cord of patients with amyotrophic lateral sclerosis. Nagata E, et al. Mol Biol Rep, 2020 Sep. PMID 32929655
  2. Casein kinase-2 mediates cell survival through phosphorylation and degradation of inositol hexakisphosphate kinase-2. Chakraborty A, et al. Proc Natl Acad Sci U S A, 2011 Feb 8. PMID 21262846, Free PMC Article
  3. Inositol hexakisphosphate kinase-2, a physiologic mediator of cell death. Nagata E, et al. J Biol Chem, 2005 Jan 14. PMID 15533939
  4. Inositol hexakisphosphate kinase 2 sensitizes ovarian carcinoma cells to multiple cancer therapeutics. Morrison BH, et al. Oncogene, 2002 Mar 14. PMID 11896621, Free PMC Article
  5. IP6K structure and the molecular determinants of catalytic specificity in an inositol phosphate kinase family. Wang H, et al. Nat Commun, 2014 Jun 24. PMID 24956979, Free PMC Article

See all (46) citations in PubMed

See citations in PubMed for homologs of this gene provided by HomoloGene

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Inositol hexakisphosphate kinase 2 promotes cell death of anterior horn cells in the spinal cord of patients with amyotrophic lateral sclerosis.
    Title: Inositol hexakisphosphate kinase 2 promotes cell death of anterior horn cells in the spinal cord of patients with amyotrophic lateral sclerosis.
  2. LINC00467 knockdown repressed cell proliferation but stimulated cell apoptosis in glioblastoma via miR-339-3p/IP6K2 axis.
    Title: LINC00467 knockdown repressed cell proliferation but stimulated cell apoptosis in glioblastoma via miR-339-3p/IP6K2 axis.
  3. conclude that IP6K1 and -2 together control inositol pyrophosphate metabolism and thereby physiologically regulate phosphate export and other aspects of mammalian cellular phosphate homeostasis
    Title: The inositol hexakisphosphate kinases IP6K1 and -2 regulate human cellular phosphate homeostasis, including XPR1-mediated phosphate export.
  4. An alpha-helical pair and a rare, two-turn 310 helix, that together form a substrate-binding pocket of IP6K2.
    Title: IP6K structure and the molecular determinants of catalytic specificity in an inositol phosphate kinase family.
  5. FGF2-signaling involves the inositol polyphosphate cascade, including inositol hexakisphosphate kinase (IP6K), and demonstrate that IP6K1,2 regulates Runx2 and osteoblast gene expression.
    Title: The regulation of runt-related transcription factor 2 by fibroblast growth factor-2 and connexin43 requires the inositol polyphosphate/protein kinase Cδ cascade.
  6. Genetic polymorphisms in IP6K2 gene is associated with autoimmune disease.
    Title: Genetics of gene expression in primary immune cells identifies cell type-specific master regulators and roles of HLA alleles.
  7. Casein kinase-2 mediates cell survival through phosphorylation and degradation of inositol hexakisphosphate kinase-2.
    Title: Casein kinase-2 mediates cell survival through phosphorylation and degradation of inositol hexakisphosphate kinase-2.
  8. Gene disruption of IP6K2 in colorectal cancer cells selectively impairs p53-mediated apoptosis, instead favoring cell-cycle arrest. IP6K2 acts by binding directly to p53 and decreasing expression of proarrest gene targets
    Title: p53-mediated apoptosis requires inositol hexakisphosphate kinase-2.
  9. InsP6K2 is a physiologic mediator of cell death
    Title: Inositol hexakisphosphate kinase-2, a physiologic mediator of cell death.
  10. IHPK2-TRAF2 binding leads to attenuation of TAK1- and NF-kappaB-mediated signaling and is partially responsible for the apoptotic activity of IHPK2.
    Title: Effect of inositol hexakisphosphate kinase 2 on transforming growth factor beta-activated kinase 1 and NF-kappaB activation.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis.
EBI GWAS Catalog
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ATP binding IEA
Inferred from Electronic Annotation
more info
  
enables flavonoid binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables inositol 5-diphosphate pentakisphosphate 5-kinase activity TAS
Traceable Author Statement
more info
  
enables inositol diphosphate tetrakisphosphate kinase activity TAS
Traceable Author Statement
more info
  
enables inositol heptakisphosphate kinase activity TAS
Traceable Author Statement
more info
  
enables inositol hexakisphosphate 5-kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables inositol hexakisphosphate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
enables inositol hexakisphosphate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables inositol hexakisphosphate kinase activity TAS
Traceable Author Statement
more info
  
enables inositol-1,3,4,5,6-pentakisphosphate kinase activity TAS
Traceable Author Statement
more info
  
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in cellular response to flavonoid IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in inositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in inositol phosphate metabolic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in inositol phosphate metabolic process TAS
Traceable Author Statement
more info
  
involved_in negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in phosphate ion transport IEA
Inferred from Electronic Annotation
more info
  
involved_in phosphatidylinositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
involved_in phosphatidylinositol phosphate biosynthetic process IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in phosphorylation IEA
Inferred from Electronic Annotation
more info
  
involved_in positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
 PubMed 
Component Evidence Code Pubs
located_in cell junction IDA
Inferred from Direct Assay
more info
  
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in fibrillar center IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  
is_active_in nucleus IBA
Inferred from Biological aspect of Ancestor
more info
 PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
 PubMed 

General protein information

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Preferred Names
inositol hexakisphosphate kinase 2
Names
ATP:1D-myo-inositol-hexakisphosphate phosphotransferase
inositol hexaphosphate kinase 2
insp6 kinase 2
pi uptake stimulator
NP_001005909.1
NP_001005910.1
NP_001005911.1
NP_001139650.1
NP_001139651.1
NP_001177245.1
NP_001177246.1
NP_057375.2
XP_006713262.1
XP_006713263.1
XP_006713264.1
XP_006713265.1
XP_011532118.1
XP_011532120.1
XP_016862078.1
XP_016862079.1
XP_016862080.1
XP_016862081.1
XP_024309336.1
XP_024309339.1
XP_047304247.1
XP_047304248.1
XP_047304249.1
XP_047304250.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001005909.3 → NP_001005909.1  inositol hexakisphosphate kinase 2 isoform a

    See identical proteins and their annotated locations for NP_001005909.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AC141002, AY007091, DB039955
    Consensus CDS
    CCDS2777.1
    UniProtKB/Swiss-Prot
    Q9UFU6, Q9UHH9
    UniProtKB/TrEMBL
    B2RCP4
    Conserved Domains (1) summary
    pfam03770
    Location:203 → 418
    IPK; Inositol polyphosphate kinase

  2. NM_001005910.3 → NP_001005910.1  inositol hexakisphosphate kinase 2 isoform b

    See identical proteins and their annotated locations for NP_001005910.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a. Variants 3 and 4 encode the same isoform (b).
    Source sequence(s)
    AL137514, DB039955
    Consensus CDS
    CCDS33752.1
    UniProtKB/Swiss-Prot
    Q9UHH9
    Related
    ENSP00000341925.4, ENST00000340879.8

  3. NM_001005911.3 → NP_001005911.1  inositol hexakisphosphate kinase 2 isoform b

    See identical proteins and their annotated locations for NP_001005911.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice site in the 5' UTR and differs in the 3' coding region and 3' UTR, compared to variant 1. The resulting isoform (b) has a distinct C-terminus and is shorter than isoform a. Variants 3 and 4 encode the same isoform (b).
    Source sequence(s)
    AL137514, CN362780, DB039955
    Consensus CDS
    CCDS33752.1
    UniProtKB/Swiss-Prot
    Q9UHH9

  4. NM_001146178.3 → NP_001139650.1  inositol hexakisphosphate kinase 2 isoform c

    See identical proteins and their annotated locations for NP_001139650.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a. Variants 5 and 6 encode the same isoform (c).
    Source sequence(s)
    AL137514, CA488567, DB039955
    Consensus CDS
    CCDS54579.1
    UniProtKB/Swiss-Prot
    Q9UHH9
    Related
    ENSP00000400812.2, ENST00000432678.6

  5. NM_001146179.3 → NP_001139651.1  inositol hexakisphosphate kinase 2 isoform c

    See identical proteins and their annotated locations for NP_001139651.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (6) uses an alternate in-frame splice site in the 5' UTR and differs in the 3' UTR and coding sequence compared to variant 1. The resulting isoform (c) has a shorter and distinct C-terminus compared to isoform a. Variants 5 and 6 encode the same isoform (c).
    Source sequence(s)
    AL137514, DA083858, DB039955
    Consensus CDS
    CCDS54579.1
    UniProtKB/Swiss-Prot
    Q9UHH9

  6. NM_001190316.2 → NP_001177245.1  inositol hexakisphosphate kinase 2 isoform d

    See identical proteins and their annotated locations for NP_001177245.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (9) has multiple differences compared to variant 1. These differences result in translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform d) has distinct N- and C-termini and shorter than isoform a.
    Source sequence(s)
    AL137514, BX537544, DB039955
    Consensus CDS
    CCDS54580.1
    UniProtKB/Swiss-Prot
    Q9UHH9
    Related
    ENSP00000414139.2, ENST00000431721.6

  7. NM_001190317.2 → NP_001177246.1  inositol hexakisphosphate kinase 2 isoform e

    See identical proteins and their annotated locations for NP_001177246.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (10) has multiple differences compared to variant 1. These differences result in translation initiation at an alternate start codon, compared to variant 1. The encoded protein (isoform e) has distinct N- and C-termini and shorter than isoform a.
    Source sequence(s)
    AK304714, AL137514, BX537544, DB039955
    Consensus CDS
    CCDS54581.1
    UniProtKB/Swiss-Prot
    Q9UHH9
    Related
    ENSP00000399052.1, ENST00000446860.5

  8. NM_016291.4 → NP_057375.2  inositol hexakisphosphate kinase 2 isoform a

    See identical proteins and their annotated locations for NP_057375.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a). Variants 1 and 2 encode the same isoform (a).
    Source sequence(s)
    AK315204, AY007091, DB039955
    Consensus CDS
    CCDS2777.1
    UniProtKB/Swiss-Prot
    Q9UFU6, Q9UHH9
    UniProtKB/TrEMBL
    B2RCP4
    Related
    ENSP00000331103.5, ENST00000328631.10
    Conserved Domains (1) summary
    pfam03770
    Location:203 → 418
    IPK; Inositol polyphosphate kinase

RNA

  1. NR_027437.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (7) differs in the 3' terminal exons compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL137514, CD248129, DB039955

  2. NR_027438.3 RNA Sequence

    Status: REVIEWED

    Description
    Transcript Variant: This variant (8) has multiple differences compared to variant 1. This variant is represented as non-coding because the use of the 5'-most supported translational start codon, as used in variant 1, renders the transcript a candidate for nonsense-mediated mRNA decay (NMD).
    Source sequence(s)
    AL137514, BC001864, DB039955
    Related
    ENST00000416707.1

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

    Range
    48688003..48717221 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006713200.2 → XP_006713263.1  inositol hexakisphosphate kinase 2 isoform X2

    See identical proteins and their annotated locations for XP_006713263.1

    Conserved Domains (1) summary
    pfam03770
    Location:261 → 476
    IPK; Inositol polyphosphate kinase

  2. XM_006713199.5 → XP_006713262.1  inositol hexakisphosphate kinase 2 isoform X1

    See identical proteins and their annotated locations for XP_006713262.1

    Conserved Domains (1) summary
    pfam03770
    Location:262 → 477
    IPK; Inositol polyphosphate kinase

  3. XM_024453571.2 → XP_024309339.1  inositol hexakisphosphate kinase 2 isoform X5

    UniProtKB/Swiss-Prot
    Q9UFU6
    UniProtKB/TrEMBL
    B2RCP4
    Conserved Domains (1) summary
    pfam03770
    Location:203 → 418
    IPK; Inositol polyphosphate kinase

  4. XM_024453568.2 → XP_024309336.1  inositol hexakisphosphate kinase 2 isoform X5

    UniProtKB/Swiss-Prot
    Q9UFU6
    UniProtKB/TrEMBL
    B2RCP4
    Conserved Domains (1) summary
    pfam03770
    Location:203 → 418
    IPK; Inositol polyphosphate kinase

  5. XM_006713202.3 → XP_006713265.1  inositol hexakisphosphate kinase 2 isoform X4

    See identical proteins and their annotated locations for XP_006713265.1

    Conserved Domains (1) summary
    pfam03770
    Location:257 → 472
    IPK; Inositol polyphosphate kinase

  6. XM_006713201.3 → XP_006713264.1  inositol hexakisphosphate kinase 2 isoform X3

    See identical proteins and their annotated locations for XP_006713264.1

    Conserved Domains (1) summary
    pfam03770
    Location:258 → 473
    IPK; Inositol polyphosphate kinase

  7. XM_047448292.1 → XP_047304248.1  inositol hexakisphosphate kinase 2 isoform X2

  8. XM_047448291.1 → XP_047304247.1  inositol hexakisphosphate kinase 2 isoform X1

  9. XM_011533816.3 → XP_011532118.1  inositol hexakisphosphate kinase 2 isoform X4

    See identical proteins and their annotated locations for XP_011532118.1

    Conserved Domains (1) summary
    pfam03770
    Location:257 → 472
    IPK; Inositol polyphosphate kinase

  10. XM_047448293.1 → XP_047304249.1  inositol hexakisphosphate kinase 2 isoform X3

  11. XM_011533818.2 → XP_011532120.1  inositol hexakisphosphate kinase 2 isoform X6

    See identical proteins and their annotated locations for XP_011532120.1

    Conserved Domains (1) summary
    pfam03770
    Location:165 → 380
    IPK; Inositol polyphosphate kinase

  12. XM_017006591.2 → XP_016862080.1  inositol hexakisphosphate kinase 2 isoform X8

    Related
    ENSP00000410454.1, ENST00000455545.5

  13. XM_017006589.2 → XP_016862078.1  inositol hexakisphosphate kinase 2 isoform X7

  14. XM_047448294.1 → XP_047304250.1  inositol hexakisphosphate kinase 2 isoform X9

    UniProtKB/TrEMBL
    C9JRM0
    Related
    ENSP00000394488.1, ENST00000450045.5

  15. XM_017006590.3 → XP_016862079.1  inositol hexakisphosphate kinase 2 isoform X7

  16. XM_017006592.2 → XP_016862081.1  inositol hexakisphosphate kinase 2 isoform X10

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060927.1 Alternate T2T-CHM13v2.0

    Range
    48716988..48746201 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_001005912.1: Suppressed sequence

    Description
    NM_001005912.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.

  2. NM_001005913.1: Suppressed sequence

    Description
    NM_001005913.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9UHH9.2 GenPept UniProtKB/Swiss-Prot:Q9UHH9

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