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

Gene ID: 51447, updated on 7-Jun-2020

Summary

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
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

Genomic context

See IP6K2 in Genome Data Viewer
Location:
3p21.31
Exon count:
14
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) 3 NC_000003.12 (48688003..48717278, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (48725436..48754711, complement)

Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene cadherin EGF LAG seven-pass G-type receptor 3 Neighboring gene microRNA 4793 Neighboring gene long intergenic non-protein coding RNA 2585 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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
flavonoid binding IDA
Inferred from Direct Assay
more info
PubMed 
inositol hexakisphosphate 5-kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
inositol hexakisphosphate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol hexakisphosphate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
cellular response to flavonoid IMP
Inferred from Mutant Phenotype
more info
PubMed 
inositol phosphate biosynthetic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
inositol phosphate metabolic process IDA
Inferred from Direct Assay
more info
PubMed 
inositol phosphate metabolic process TAS
Traceable Author Statement
more info
 
negative regulation of cell growth IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphate ion transport IEA
Inferred from Electronic Annotation
more info
 
phosphatidylinositol phosphorylation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
phosphatidylinositol phosphorylation IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
type I interferon signaling pathway TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cell junction IDA
Inferred from Direct Assay
more info
 
cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
fibrillar center IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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_011532119.1
XP_011532120.1
XP_011532124.1
XP_011532125.1
XP_016862072.1
XP_016862073.1
XP_016862074.1
XP_016862076.1
XP_016862077.1
XP_016862078.1
XP_016862079.1
XP_016862080.1
XP_016862081.1
XP_016862082.1
XP_024309336.1
XP_024309337.1
XP_024309338.1
XP_024309339.1
XP_024309340.1
XP_024309341.1
XP_024309342.1
XP_024309343.1
XP_024309344.1
XP_024309345.1
XP_024309346.1
XP_024309347.1
XP_024309348.1
XP_024309349.1
XP_024309350.1
XP_024309351.1
XP_024309352.1
XP_024309353.1
XP_024309354.1
XP_024309355.1
XP_024309356.1

NCBI Reference Sequences (RefSeq)

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_001005909.2NP_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
    Q9UHH9
    UniProtKB/TrEMBL
    B2RCP4
    Conserved Domains (1) summary
    pfam03770
    Location:203418
    IPK; Inositol polyphosphate kinase
  2. NM_001005910.3NP_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_001005911.3NP_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_001146178.2NP_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_001146179.3NP_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_001190316.1NP_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_001190317.1NP_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_016291.4NP_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
    Q9UHH9
    UniProtKB/TrEMBL
    B2RCP4
    Related
    ENSP00000331103.5, ENST00000328631.10
    Conserved Domains (1) summary
    pfam03770
    Location:203418
    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 Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000003.12 Reference GRCh38.p13 Primary Assembly

    Range
    48688003..48717278 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024453583.1XP_024309351.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  2. XM_024453579.1XP_024309347.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  3. XM_024453573.1XP_024309341.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  4. XM_024453575.1XP_024309343.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  5. XM_024453585.1XP_024309353.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  6. XM_024453578.1XP_024309346.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  7. XM_024453574.1XP_024309342.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  8. XM_006713199.4XP_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:262477
    IPK; Inositol polyphosphate kinase
  9. XM_024453571.1XP_024309339.1  inositol hexakisphosphate kinase 2 isoform X5

    Conserved Domains (1) summary
    pfam03770
    Location:203418
    IPK; Inositol polyphosphate kinase
  10. XM_024453568.1XP_024309336.1  inositol hexakisphosphate kinase 2 isoform X5

    Conserved Domains (1) summary
    pfam03770
    Location:203418
    IPK; Inositol polyphosphate kinase
  11. XM_024453570.1XP_024309338.1  inositol hexakisphosphate kinase 2 isoform X5

    Conserved Domains (1) summary
    pfam03770
    Location:203418
    IPK; Inositol polyphosphate kinase
  12. XM_024453582.1XP_024309350.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  13. XM_011533818.1XP_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:165380
    IPK; Inositol polyphosphate kinase
  14. XM_024453580.1XP_024309348.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  15. XM_011533817.2XP_011532119.1  inositol hexakisphosphate kinase 2 isoform X6

    See identical proteins and their annotated locations for XP_011532119.1

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  16. XM_006713200.1XP_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:261476
    IPK; Inositol polyphosphate kinase
  17. XM_017006587.2XP_016862076.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  18. XM_024453581.1XP_024309349.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  19. XM_024453587.1XP_024309355.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  20. XM_024453588.1XP_024309356.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  21. XM_024453586.1XP_024309354.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  22. XM_011533816.2XP_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:257472
    IPK; Inositol polyphosphate kinase
  23. XM_017006584.2XP_016862073.1  inositol hexakisphosphate kinase 2 isoform X5

    UniProtKB/Swiss-Prot
    Q9UHH9
    UniProtKB/TrEMBL
    B2RCP4
    Conserved Domains (1) summary
    pfam03770
    Location:203418
    IPK; Inositol polyphosphate kinase
  24. XM_017006583.2XP_016862072.1  inositol hexakisphosphate kinase 2 isoform X5

    UniProtKB/Swiss-Prot
    Q9UHH9
    UniProtKB/TrEMBL
    B2RCP4
    Conserved Domains (1) summary
    pfam03770
    Location:203418
    IPK; Inositol polyphosphate kinase
  25. XM_024453577.1XP_024309345.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  26. XM_024453584.1XP_024309352.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  27. XM_024453569.1XP_024309337.1  inositol hexakisphosphate kinase 2 isoform X5

    Conserved Domains (1) summary
    pfam03770
    Location:203418
    IPK; Inositol polyphosphate kinase
  28. XM_017006585.2XP_016862074.1  inositol hexakisphosphate kinase 2 isoform X5

    UniProtKB/Swiss-Prot
    Q9UHH9
    UniProtKB/TrEMBL
    B2RCP4
    Conserved Domains (1) summary
    pfam03770
    Location:203418
    IPK; Inositol polyphosphate kinase
  29. XM_024453576.1XP_024309344.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  30. XM_024453572.1XP_024309340.1  inositol hexakisphosphate kinase 2 isoform X6

    Conserved Domains (1) summary
    pfam03770
    Location:165380
    IPK; Inositol polyphosphate kinase
  31. XM_006713202.2XP_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:257472
    IPK; Inositol polyphosphate kinase
  32. XM_006713201.2XP_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:258473
    IPK; Inositol polyphosphate kinase
  33. XM_017006589.1XP_016862078.1  inositol hexakisphosphate kinase 2 isoform X8

  34. XM_017006593.1XP_016862082.1  inositol hexakisphosphate kinase 2 isoform X10

  35. XM_017006591.1XP_016862080.1  inositol hexakisphosphate kinase 2 isoform X9

    Related
    ENSP00000410454.1, ENST00000455545.5
  36. XM_017006590.2XP_016862079.1  inositol hexakisphosphate kinase 2 isoform X8

  37. XM_017006592.1XP_016862081.1  inositol hexakisphosphate kinase 2 isoform X10

  38. XM_011533823.1XP_011532125.1  inositol hexakisphosphate kinase 2 isoform X11

    See identical proteins and their annotated locations for XP_011532125.1

    UniProtKB/Swiss-Prot
    Q9UHH9
  39. XM_011533822.1XP_011532124.1  inositol hexakisphosphate kinase 2 isoform X11

    See identical proteins and their annotated locations for XP_011532124.1

    UniProtKB/Swiss-Prot
    Q9UHH9
  40. XM_017006588.1XP_016862077.1  inositol hexakisphosphate kinase 2 isoform X7

    UniProtKB/TrEMBL
    A8K636

RNA

  1. XR_001740172.1 RNA Sequence

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.
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