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    PPIP5K2 diphosphoinositol pentakisphosphate kinase 2 [ Homo sapiens (human) ]

    Gene ID: 23262, updated on 2-Nov-2024

    Summary

    Official Symbol
    PPIP5K2provided by HGNC
    Official Full Name
    diphosphoinositol pentakisphosphate kinase 2provided by HGNC
    Primary source
    HGNC:HGNC:29035
    See related
    Ensembl:ENSG00000145725 MIM:611648; AllianceGenome:HGNC:29035
    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
    VIP2; IP7K2; CFAP160; DFNB100; HISPPD1
    Summary
    This gene encodes a member of the histidine acid phosphatase family of proteins. Despite containing a histidine acid phosphatase domain, the encoded protein functions as an inositol pyrophosphate kinase, and is thought to lack phosphatase activity. This kinase activity is the mechanism by which the encoded protein synthesizes high-energy inositol pyrophosphates, which act as signaling molecules that regulate cellular homeostasis and other processes. This gene may be associated with autism spectrum disorder in human patients. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in bone marrow (RPKM 8.5), colon (RPKM 7.8) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See PPIP5K2 in Genome Data Viewer
    Location:
    5q21.1
    Exon count:
    34
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (103120301..103212799)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (103628403..103720883)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (102456005..102548500)

    Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105379105 Neighboring gene gypsy retrotransposon integrase 1 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:102454978-102455479 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:102455480-102455980 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22858 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22859 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr5:102477431-102477932 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 22860 Neighboring gene uncharacterized LOC124901037 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16210 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16211 Neighboring gene macrophage immunometabolism regulator

    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?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ21506, FLJ23463, KIAA0433

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in inositol metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inositol metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in inositol phosphate biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in inositol phosphate metabolic process TAS
    Traceable Author Statement
    more info
     
    involved_in phosphorylation IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in sensory perception of sound IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    is_active_in cytosol IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in cytosol ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in cytosol TAS
    Traceable Author Statement
    more info
     

    General protein information

    Preferred Names
    inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2
    Names
    VIP1 homolog 2
    deafness, autosomal recessive 100
    histidine acid phosphatase domain-containing protein 1
    inositol heptaphosphate kinase 2
    insP6 and PP-IP5 kinase 2
    NP_001263206.1
    NP_001268400.1
    NP_001332800.1
    NP_001332801.1
    NP_001332802.1
    NP_001332803.1
    NP_001332804.1
    NP_001332805.1
    NP_001332806.1
    NP_001332807.1
    NP_056031.2
    XP_005277591.1
    XP_005277592.1
    XP_005277593.1
    XP_005277596.1
    XP_005277598.1
    XP_006714639.1
    XP_006714640.1
    XP_011541592.1
    XP_016864762.1
    XP_016864763.1
    XP_047272962.1
    XP_047272963.1
    XP_047272964.1
    XP_047272965.1
    XP_047272966.1
    XP_047272967.1
    XP_047272968.1
    XP_047272969.1
    XP_047272970.1
    XP_054208157.1
    XP_054208158.1
    XP_054208159.1
    XP_054208160.1
    XP_054208161.1
    XP_054208162.1
    XP_054208163.1
    XP_054208164.1
    XP_054208165.1
    XP_054208166.1
    XP_054208167.1
    XP_054208168.1
    XP_054208169.1
    XP_054208170.1
    XP_054208171.1
    XP_054208172.1
    XP_054208173.1
    XP_054208174.1
    XP_054208175.1

    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.

    Genomic

    1. NG_051568.2 RefSeqGene

      Range
      5002..97500
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001276277.3NP_001263206.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 1

      See identical proteins and their annotated locations for NP_001263206.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) lacks two in-frame exons in the coding region, compared to variant 4. The resulting isoform (1) lacks two internal segments, compared to isoform (3).
      Source sequence(s)
      AB007893, AC011362, AK025159, DB298507
      Consensus CDS
      CCDS64212.1
      UniProtKB/Swiss-Prot
      A1NI53, A6NGS8, O43314, Q8TB50
      UniProtKB/TrEMBL
      B4DGV1
      Related
      ENSP00000351126.3, ENST00000358359.8
      Conserved Domains (2) summary
      COG0189
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]
      pfam00328
      Location:379894
      His_Phos_2; Histidine phosphatase superfamily (branch 2)
    2. NM_001281471.3NP_001268400.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (3).
      Source sequence(s)
      AC011362, AK025159, AK294787, BC024591, DB298507, DC404725
      Consensus CDS
      CCDS75283.1
      UniProtKB/TrEMBL
      A0A087WZV0, B4DGV1
      Related
      ENSP00000482907.1, ENST00000613674.4
      Conserved Domains (2) summary
      COG0189
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]
      pfam00328
      Location:379909
      His_Phos_2; Histidine phosphatase superfamily (branch 2)
    3. NM_001345871.2NP_001332800.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC008447, AC011362
      Consensus CDS
      CCDS93758.1
      UniProtKB/TrEMBL
      A0A8V8TMN4, B4DGV1
      Related
      ENSP00000513912.1, ENST00000698750.1
    4. NM_001345872.2NP_001332801.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC008447, AC011362
      UniProtKB/TrEMBL
      B4DGV1
    5. NM_001345873.2NP_001332802.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC008447, AC011362
      UniProtKB/TrEMBL
      B4DGV1
    6. NM_001345874.2NP_001332803.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC008447, AC011362
      UniProtKB/TrEMBL
      B4DGV1
    7. NM_001345875.2NP_001332804.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC008447, AC011362
      UniProtKB/TrEMBL
      B4DGV1
    8. NM_001345876.2NP_001332805.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC008447, AC011362
      UniProtKB/TrEMBL
      B4DGV1
    9. NM_001345877.2NP_001332806.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC008447, AC011362
      UniProtKB/TrEMBL
      B4DGV1
    10. NM_001345878.2NP_001332807.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC008447, AC011362
      UniProtKB/TrEMBL
      B4DGV1
    11. NM_015216.5NP_056031.2  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 2

      See identical proteins and their annotated locations for NP_056031.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks three internal exons in the coding region, but maintains the reading frame, compared to variant 4. The resulting isoform (2) lacks two internal segments, compared to isoform 3.
      Source sequence(s)
      AC008447, AC011362
      Consensus CDS
      CCDS34207.1
      UniProtKB/TrEMBL
      B4DGV1
      Related
      ENSP00000313070.8, ENST00000321521.13
      Conserved Domains (2) summary
      pfam00328
      Location:379894
      His_Phos_2; Histidine phosphatase superfamily (branch 2)
      cl27318
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]

    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_000005.10 Reference GRCh38.p14 Primary Assembly

      Range
      103120301..103212799
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005277534.3XP_005277591.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X1

      UniProtKB/TrEMBL
      B4DGV1
      Conserved Domains (2) summary
      COG0189
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]
      pfam00328
      Location:379909
      His_Phos_2; Histidine phosphatase superfamily (branch 2)
    2. XM_005277536.3XP_005277593.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X3

      UniProtKB/TrEMBL
      B4DGV1
      Conserved Domains (2) summary
      COG0189
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]
      pfam00328
      Location:379909
      His_Phos_2; Histidine phosphatase superfamily (branch 2)
    3. XM_006714576.3XP_006714639.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X5

      UniProtKB/TrEMBL
      B4DGV1
      Conserved Domains (2) summary
      COG0189
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]
      pfam00328
      Location:379909
      His_Phos_2; Histidine phosphatase superfamily (branch 2)
    4. XM_005277539.3XP_005277596.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X8

      UniProtKB/TrEMBL
      B4DGV1
      Conserved Domains (2) summary
      COG0189
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]
      pfam00328
      Location:379909
      His_Phos_2; Histidine phosphatase superfamily (branch 2)
    5. XM_047417011.1XP_047272967.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X11

    6. XM_006714577.3XP_006714640.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X14

      UniProtKB/TrEMBL
      B4DGV1
      Conserved Domains (2) summary
      COG0189
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]
      pfam00328
      Location:379909
      His_Phos_2; Histidine phosphatase superfamily (branch 2)
    7. XM_005277541.3XP_005277598.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X17

      UniProtKB/TrEMBL
      B4DGV1
      Conserved Domains (2) summary
      COG0189
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]
      pfam00328
      Location:379909
      His_Phos_2; Histidine phosphatase superfamily (branch 2)
    8. XM_047417007.1XP_047272963.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X6

    9. XM_017009274.3XP_016864763.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X15

      UniProtKB/TrEMBL
      B4DGV1
    10. XM_005277535.3XP_005277592.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X2

      UniProtKB/TrEMBL
      B4DGV1
      Conserved Domains (2) summary
      COG0189
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]
      pfam00328
      Location:379908
      His_Phos_2; Histidine phosphatase superfamily (branch 2)
    11. XM_047417009.1XP_047272965.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X9

    12. XM_047417008.1XP_047272964.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X7

    13. XM_047417012.1XP_047272968.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X12

    14. XM_047417014.1XP_047272970.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X18

    15. XM_047417006.1XP_047272962.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X4

    16. XM_047417010.1XP_047272966.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X10

    17. XM_017009273.3XP_016864762.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X13

      UniProtKB/TrEMBL
      B4DGV1
    18. XM_047417013.1XP_047272969.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X16

    19. XM_011543290.4XP_011541592.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X19

      Conserved Domains (2) summary
      COG0189
      Location:48337
      RimK; Glutathione synthase/RimK-type ligase, ATP-grasp superfamily [Coenzyme transport and metabolism, Translation, ribosomal structure and biogenesis]
      pfam00328
      Location:379909
      His_Phos_2; Histidine phosphatase superfamily (branch 2)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060929.1 Alternate T2T-CHM13v2.0

      Range
      103628403..103720883
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054352182.1XP_054208157.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X1

    2. XM_054352184.1XP_054208159.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X3

    3. XM_054352186.1XP_054208161.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X5

    4. XM_054352189.1XP_054208164.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X8

    5. XM_054352192.1XP_054208167.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X11

    6. XM_054352195.1XP_054208170.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X14

    7. XM_054352198.1XP_054208173.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X17

    8. XM_054352187.1XP_054208162.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X6

    9. XM_054352196.1XP_054208171.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X15

    10. XM_054352183.1XP_054208158.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X2

    11. XM_054352190.1XP_054208165.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X9

    12. XM_054352188.1XP_054208163.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X7

    13. XM_054352193.1XP_054208168.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X12

    14. XM_054352199.1XP_054208174.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X18

    15. XM_054352185.1XP_054208160.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X4

    16. XM_054352191.1XP_054208166.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X10

    17. XM_054352194.1XP_054208169.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X13

    18. XM_054352197.1XP_054208172.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X16

    19. XM_054352200.1XP_054208175.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X19