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

    Gene ID: 227399, updated on 9-Dec-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, Dec 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
      UniProtKB/TrEMBL
      E9Q9J4
      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
      UniProtKB/TrEMBL
      E9Q9J4

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      E9Q9J4

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      E9Q9J4

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      E9Q9J4

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      E9Q9J4

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      E9Q9J4

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      E9Q9J4

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      E9Q9J4

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      E9Q9J4

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      E9Q9J4

    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
      UniProtKB/TrEMBL
      E9Q9J4

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      E9Q9J4

    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
      UniProtKB/TrEMBL
      Q80V47

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

      Status: VALIDATED

      Source sequence(s)
      AC099860, AC102191, AC162298
      UniProtKB/TrEMBL
      Q80V47

    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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