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Ppip5k2 diphosphoinositol pentakisphosphate kinase 2 [ Mus musculus (house mouse) ]

Gene ID: 227399, updated on 27-Nov-2024

Summary

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Official Symbol
Ppip5k2provided by MGI
Official Full Name
diphosphoinositol pentakisphosphate kinase 2provided by MGI
Primary source
MGI:MGI:2142810
See related
Ensembl:ENSMUSG00000040648 AllianceGenome:MGI:2142810
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Vip2; Cfap160; Hisppd1; mKIAA0433; D330021B20
Summary
Enables 5-diphosphoinositol pentakisphosphate 1-kinase activity and inositol hexakisphosphate kinase activity. Predicted to be involved in inositol metabolic process and inositol phosphate biosynthetic process. Predicted to be active in cytosol. Is expressed in several structures, including alimentary system; genitourinary system; nervous system; salivary gland primordium; and sensory organ. Used to study nonsyndromic deafness. Human ortholog(s) of this gene implicated in autosomal recessive nonsyndromic deafness 100. Orthologous to human PPIP5K2 (diphosphoinositol pentakisphosphate kinase 2). [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in CNS E18 (RPKM 10.9), CNS E14 (RPKM 10.8) and 26 other tissues See more
Orthologs
human all
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Genomic context

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See Ppip5k2 in Genome Data Viewer
Location:
1 D; 1 47.76 cM
Exon count:
32
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (97633768..97698133, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (97706043..97770411, complement)

Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_01776 Neighboring gene predicted gene 7135 Neighboring gene STARR-seq mESC enhancer starr_01777 Neighboring gene STARR-seq mESC enhancer starr_01778 Neighboring gene VISTA enhancer mm1317 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:99476944-99477212 Neighboring gene STARR-positive B cell enhancer ABC_E3293 Neighboring gene macrophage immunometabolism regulator Neighboring gene STARR-seq mESC enhancer starr_01779 Neighboring gene CapStarr-seq enhancer MGSCv37_chr1:99666627-99666810 Neighboring gene STARR-seq mESC enhancer starr_01781 Neighboring gene gypsy retrotransposon integrase 1 Neighboring gene peptidylglycine alpha-amidating monooxygenase Neighboring gene predicted gene, 31771 Neighboring gene basic transcription factor 3, pseudogene 1

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

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Related articles in PubMed

  1. Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. Yousaf R, et al. PLoS Genet, 2018 Mar. PMID 29590114, Free PMC Article
  2. Renal Klotho and inorganic phosphate are extrinsic factors that antagonistically regulate hematopoietic stem cell maintenance. Du C, et al. Cell Rep, 2022 Feb 15. PMID 35172146
  3. PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus. Khaled ML, et al. Sci Rep, 2019 Dec 18. PMID 31852976, Free PMC Article
  4. Cloning and characterization of two human VIP1-like inositol hexakisphosphate and diphosphoinositol pentakisphosphate kinases. Fridy PC, et al. J Biol Chem, 2007 Oct 19. PMID 17690096
  5. Construction of a multi-functional cDNA library specific for mouse pancreatic islets and its application to microarray. Nishimura M, et al. DNA Res, 2004 Oct 31. PMID 15747579

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. demonstration that PPIP5K2 has a role in hearing in humans indicates that PP-IP signaling is important to hair cell maintenance and function within inner ear
    Title: Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse.
Submit: New GeneRIF Correction

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Endonuclease-mediated (2)  1 citation
  • Targeted (2) 

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables 5-diphosphoinositol pentakisphosphate 1-kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 5-diphosphoinositol pentakisphosphate 1-kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables 5-diphosphoinositol pentakisphosphate 1-kinase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
enables 5-diphosphoinositol pentakisphosphate 1-kinase activity ISS
Inferred from Sequence or Structural Similarity
more info
  
enables ATP binding ISO
Inferred from Sequence Orthology
more info
  
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
  
enables diphosphoinositol pentakisphosphate kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables inositol hexakisphosphate 1-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
  
enables inositol hexakisphosphate kinase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables inositol hexakisphosphate kinase activity ISO
Inferred from Sequence Orthology
more info
 PubMed 
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
  
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 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 ISO
Inferred from Sequence Orthology
more info
 PubMed 
located_in cytosol ISS
Inferred from Sequence or Structural Similarity
more info
  

General protein information

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Preferred Names
inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2
Names
VIP1 homolog 2
histidine acid phosphatase domain containing 1
histidine acid phosphatase domain-containing protein 1
insP6 and PP-IP5 kinase 2
NP_001392387.1
NP_001392388.1
NP_001392389.1
NP_001392390.1
NP_001392391.1
NP_001392392.1
NP_001392393.1
NP_001392394.1
NP_001392395.1
NP_001392396.1
NP_001392397.1
NP_001392398.1
NP_001392399.1
NP_001392400.1
NP_001392401.1
NP_001392402.1
NP_776121.4
XP_006529553.1
XP_006529554.1
XP_006529555.1
XP_006529556.1
XP_006529557.1
XP_011246292.1
XP_017175860.1
XP_030109647.1
XP_036020456.1
XP_036020481.1
XP_036020482.1
XP_036020489.1
XP_036020490.1

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_001405458.1 → NP_001392387.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 1

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298
    Related
    ENSMUSP00000108466.2, ENSMUST00000112845.8

  2. NM_001405459.1 → NP_001392388.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  3. NM_001405460.1 → NP_001392389.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 2

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  4. NM_001405461.1 → NP_001392390.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 3

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  5. NM_001405462.1 → NP_001392391.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 4

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  6. NM_001405463.1 → NP_001392392.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 5

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  7. NM_001405464.1 → NP_001392393.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 6

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  8. NM_001405465.1 → NP_001392394.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 7

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  9. NM_001405466.1 → NP_001392395.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 8

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  10. NM_001405467.1 → NP_001392396.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 9

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  11. NM_001405468.1 → NP_001392397.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 10

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  12. NM_001405469.1 → NP_001392398.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 11

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298
    UniProtKB/Swiss-Prot
    E9PVE9, Q3TM75, Q3UUA3, Q6ZQB6, Q7TPU4

  13. NM_001405470.1 → NP_001392399.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 13

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  14. NM_001405471.1 → NP_001392400.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 14

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  15. NM_001405472.1 → NP_001392401.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 15

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  16. NM_001405473.1 → NP_001392402.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 16

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298

  17. NM_173760.6 → NP_776121.4  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 11

    See identical proteins and their annotated locations for NP_776121.4

    Status: VALIDATED

    Source sequence(s)
    AC099860, AC102191, AC162298
    Consensus CDS
    CCDS35678.2
    UniProtKB/Swiss-Prot
    E9PVE9, Q3TM75, Q3UUA3, Q6ZQB6, Q7TPU4
    UniProtKB/TrEMBL
    E9Q9J4
    Related
    ENSMUSP00000043401.8, ENSMUST00000042509.13
    Conserved Domains (3) summary
    pfam00328
    Location:385 → 900
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    pfam18086
    Location:50 → 139
    PPIP5K2_N; Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
    cl17255
    Location:54 → 343
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000067.7 Reference GRCm39 C57BL/6J

    Range
    97633768..97698133 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_036164563.1 → XP_036020456.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X8

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (3) summary
    pfam00328
    Location:342 → 856
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    pfam18086
    Location:50 → 109
    PPIP5K2_N; Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
    cl17255
    Location:118 → 300
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  2. XM_030253787.1 → XP_030109647.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X15

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (3) summary
    pfam00328
    Location:385 → 900
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    pfam18086
    Location:50 → 139
    PPIP5K2_N; Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
    cl17255
    Location:54 → 343
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  3. XM_036164588.1 → XP_036020481.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X19

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (2) summary
    pfam00328
    Location:271 → 786
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    cl17255
    Location:124 → 229
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  4. XM_011247990.1 → XP_011246292.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X7

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (3) summary
    pfam00328
    Location:342 → 857
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    pfam18086
    Location:50 → 109
    PPIP5K2_N; Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
    cl17255
    Location:118 → 300
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  5. XM_006529491.2 → XP_006529554.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X2

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (3) summary
    pfam00328
    Location:385 → 899
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    pfam18086
    Location:50 → 139
    PPIP5K2_N; Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
    cl17255
    Location:54 → 343
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  6. XM_006529494.2 → XP_006529557.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X6

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (3) summary
    pfam00328
    Location:385 → 900
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    pfam18086
    Location:50 → 139
    PPIP5K2_N; Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
    cl17255
    Location:54 → 343
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  7. XM_017320371.1 → XP_017175860.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X5

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (3) summary
    pfam00328
    Location:385 → 900
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    pfam18086
    Location:50 → 139
    PPIP5K2_N; Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
    cl17255
    Location:54 → 343
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  8. XM_006529493.2 → XP_006529556.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X4

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (3) summary
    pfam00328
    Location:385 → 900
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    pfam18086
    Location:50 → 139
    PPIP5K2_N; Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
    cl17255
    Location:54 → 343
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  9. XM_006529492.2 → XP_006529555.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X3

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (3) summary
    pfam00328
    Location:385 → 900
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    pfam18086
    Location:50 → 139
    PPIP5K2_N; Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
    cl17255
    Location:54 → 343
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  10. XM_036164589.1 → XP_036020482.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X19

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (2) summary
    pfam00328
    Location:271 → 786
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    cl17255
    Location:124 → 229
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain

  11. XM_036164596.1 → XP_036020489.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X22

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (1) summary
    pfam00328
    Location:140 → 655
    His_Phos_2; Histidine phosphatase superfamily (branch 2)

  12. XM_036164597.1 → XP_036020490.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X22

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (1) summary
    pfam00328
    Location:140 → 655
    His_Phos_2; Histidine phosphatase superfamily (branch 2)

  13. XM_006529490.3 → XP_006529553.1  inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform X1

    See identical proteins and their annotated locations for XP_006529553.1

    UniProtKB/TrEMBL
    E9Q9J4
    Conserved Domains (3) summary
    pfam00328
    Location:385 → 900
    His_Phos_2; Histidine phosphatase superfamily (branch 2)
    pfam18086
    Location:50 → 139
    PPIP5K2_N; Diphosphoinositol pentakisphosphate kinase 2 N-terminal domain
    cl17255
    Location:54 → 343
    CPSase_L_D2; Carbamoyl-phosphate synthase L chain, ATP binding domain
Nucleotide Protein Strain
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q6ZQB6.3 GenPept UniProtKB/Swiss-Prot:Q6ZQB6

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