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

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

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; 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

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

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

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

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

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

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_001005909.3NP_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: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_001146178.3NP_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_001190316.2NP_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_001190317.2NP_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
    Q9UFU6, 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 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_006713200.2XP_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
  2. XM_006713199.5XP_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
  3. XM_024453571.2XP_024309339.1  inositol hexakisphosphate kinase 2 isoform X5

    UniProtKB/Swiss-Prot
    Q9UFU6
    UniProtKB/TrEMBL
    B2RCP4
    Conserved Domains (1) summary
    pfam03770
    Location:203418
    IPK; Inositol polyphosphate kinase
  4. XM_024453568.2XP_024309336.1  inositol hexakisphosphate kinase 2 isoform X5

    UniProtKB/Swiss-Prot
    Q9UFU6
    UniProtKB/TrEMBL
    B2RCP4
    Conserved Domains (1) summary
    pfam03770
    Location:203418
    IPK; Inositol polyphosphate kinase
  5. XM_006713202.3XP_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
  6. XM_006713201.3XP_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
  7. XM_047448292.1XP_047304248.1  inositol hexakisphosphate kinase 2 isoform X2

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

  9. XM_011533816.3XP_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
  10. XM_047448293.1XP_047304249.1  inositol hexakisphosphate kinase 2 isoform X3

  11. XM_011533818.2XP_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
  12. XM_017006591.2XP_016862080.1  inositol hexakisphosphate kinase 2 isoform X8

    Related
    ENSP00000410454.1, ENST00000455545.5
  13. XM_017006589.2XP_016862078.1  inositol hexakisphosphate kinase 2 isoform X7

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

    UniProtKB/TrEMBL
    C9JRM0
    Related
    ENSP00000394488.1, ENST00000450045.5
  15. XM_017006590.3XP_016862079.1  inositol hexakisphosphate kinase 2 isoform X7

  16. XM_017006592.2XP_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.