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

Gene ID: 23262, updated on 23-Nov-2021

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
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
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Genomic context

See PPIP5K2 in Genome Data Viewer
Location:
5q21.1
Exon count:
34
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (103120273..103212799)
105.20201022 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 macrophage immunometabolism regulator Neighboring gene PDZ and pleckstrin homology domains 1, pseudogene

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ21506, FLJ23463, KIAA0433

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 5-diphosphoinositol pentakisphosphate 3-kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables diphosphoinositol-pentakisphosphate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables diphosphoinositol-pentakisphosphate kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables diphosphoinositol-pentakisphosphate kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
enables inositol heptakisphosphate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables inositol heptakisphosphate kinase activity TAS
Traceable Author Statement
more info
 
enables inositol hexakisphosphate 1-kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables inositol hexakisphosphate 3-kinase activity IEA
Inferred from Electronic Annotation
more info
 
enables inositol hexakisphosphate 5-kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
 
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 ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
involved_in inositol metabolic process IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 
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
PubMed 
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

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.

Genomic

  1. NG_051568.1 RefSeqGene

    Range
    5001..89664
    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
    O43314
    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/Swiss-Prot
    O43314
    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
  4. NM_001345872.2NP_001332801.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 5

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

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

    Status: REVIEWED

    Source sequence(s)
    AC008447, AC011362
  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/Swiss-Prot
    O43314
    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: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    103120273..103212799
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    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_005277536.2XP_005277593.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X3

    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_006714576.2XP_006714639.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X4

    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_005277539.2XP_005277596.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X5

    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_006714577.2XP_006714640.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X7

    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)
  6. XM_005277541.2XP_005277598.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X9

    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_017009274.2XP_016864763.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X8

  8. XM_005277535.2XP_005277592.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X2

    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)
  9. XM_017009273.2XP_016864762.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X6

  10. XM_011543290.3XP_011541592.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X10

    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)
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