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

    Gene ID: 51447, updated on 14-Nov-2024

    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
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See IP6K2 in Genome Data Viewer
    Location:
    3p21.31
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (48688003..48717221, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (48716988..48746201, complement)
    RS_2024_09 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 ATAC-STARR-seq lymphoblastoid active region 19841 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19842 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48702141-48702725 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 H3K4me1 hESC enhancer GRCh37_chr3:48725238-48725738 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48725739-48726239 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48732697-48733286 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:48750133-48750632 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14339 Neighboring gene protein kinase cAMP-dependent type II regulatory subunit alpha Neighboring gene MPRA-validated peak4643 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:48806609-48807260 Neighboring gene MPRA-validated peak4644 silencer Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14340 Neighboring gene PRKAR2A antisense RNA 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues 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

    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
     
    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
     
    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
    XP_054202773.1
    XP_054202774.1
    XP_054202775.1
    XP_054202776.1
    XP_054202777.1
    XP_054202778.1
    XP_054202779.1
    XP_054202780.1
    XP_054202781.1
    XP_054202782.1
    XP_054202783.1
    XP_054202784.1
    XP_054202785.1
    XP_054202786.1
    XP_054202787.1
    XP_054202788.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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
      A8K3B1, B4E3G6, G8JLL6, Q6P0N8, Q9BSZ6, Q9BUW3, Q9H4P7, Q9NT63, 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/TrEMBL
      C9JGK2
      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/TrEMBL
      C9JGK2
    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/TrEMBL
      A8K636
      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/TrEMBL
      C9J8W6
      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
      A8K3B1, B4E3G6, G8JLL6, Q6P0N8, Q9BSZ6, Q9BUW3, Q9H4P7, Q9NT63, 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: GCF_000001405.40-RS_2024_08

    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
      A8K3B1, B4E3G6, G8JLL6, Q6P0N8, Q9BSZ6, Q9BUW3, Q9H4P7, Q9NT63, Q9UFU6, Q9UHH9
      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
      A8K3B1, B4E3G6, G8JLL6, Q6P0N8, Q9BSZ6, Q9BUW3, Q9H4P7, Q9NT63, Q9UFU6, Q9UHH9
      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

      UniProtKB/TrEMBL
      C9J3W9
      Related
      ENSP00000410454.1, ENST00000455545.5
    13. XM_017006589.2XP_016862078.1  inositol hexakisphosphate kinase 2 isoform X7

      UniProtKB/TrEMBL
      C9J3W9
    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

      UniProtKB/TrEMBL
      C9J3W9
    16. XM_017006592.2XP_016862081.1  inositol hexakisphosphate kinase 2 isoform X10

      UniProtKB/TrEMBL
      F8WDQ5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

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

    mRNA and Protein(s)

    1. XM_054346800.1XP_054202775.1  inositol hexakisphosphate kinase 2 isoform X2

    2. XM_054346798.1XP_054202773.1  inositol hexakisphosphate kinase 2 isoform X1

    3. XM_054346806.1XP_054202781.1  inositol hexakisphosphate kinase 2 isoform X5

      UniProtKB/Swiss-Prot
      A8K3B1, B4E3G6, G8JLL6, Q6P0N8, Q9BSZ6, Q9BUW3, Q9H4P7, Q9NT63, Q9UFU6, Q9UHH9
      UniProtKB/TrEMBL
      B2RCP4
    4. XM_054346807.1XP_054202782.1  inositol hexakisphosphate kinase 2 isoform X5

      UniProtKB/Swiss-Prot
      A8K3B1, B4E3G6, G8JLL6, Q6P0N8, Q9BSZ6, Q9BUW3, Q9H4P7, Q9NT63, Q9UFU6, Q9UHH9
      UniProtKB/TrEMBL
      B2RCP4
    5. XM_054346804.1XP_054202779.1  inositol hexakisphosphate kinase 2 isoform X4

    6. XM_054346802.1XP_054202777.1  inositol hexakisphosphate kinase 2 isoform X3

    7. XM_054346801.1XP_054202776.1  inositol hexakisphosphate kinase 2 isoform X2

    8. XM_054346799.1XP_054202774.1  inositol hexakisphosphate kinase 2 isoform X1

    9. XM_054346805.1XP_054202780.1  inositol hexakisphosphate kinase 2 isoform X4

    10. XM_054346803.1XP_054202778.1  inositol hexakisphosphate kinase 2 isoform X3

    11. XM_054346808.1XP_054202783.1  inositol hexakisphosphate kinase 2 isoform X6

    12. XM_054346811.1XP_054202786.1  inositol hexakisphosphate kinase 2 isoform X8

    13. XM_054346809.1XP_054202784.1  inositol hexakisphosphate kinase 2 isoform X7

    14. XM_054346812.1XP_054202787.1  inositol hexakisphosphate kinase 2 isoform X9

      UniProtKB/TrEMBL
      C9JRM0
    15. XM_054346810.1XP_054202785.1  inositol hexakisphosphate kinase 2 isoform X7

    16. XM_054346813.1XP_054202788.1  inositol hexakisphosphate kinase 2 isoform X10

    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.