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

Summary

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

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_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.

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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

AW555814 (e-PCR)
- UniSTS:179854

RH143415 (e-PCR)
- UniSTS:232662

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

EC 2.7.4.24

NP_001392388.1

EC 2.7.4.24

NP_001392389.1

EC 2.7.4.24

NP_001392390.1

EC 2.7.4.24

NP_001392391.1

EC 2.7.4.24

NP_001392392.1

EC 2.7.4.24

NP_001392393.1

EC 2.7.4.24

NP_001392394.1

EC 2.7.4.24

NP_001392395.1

EC 2.7.4.24

NP_001392396.1

EC 2.7.4.24

NP_001392397.1

EC 2.7.4.24

NP_001392398.1

EC 2.7.4.24

NP_001392399.1

EC 2.7.4.24

NP_001392400.1

EC 2.7.4.24

NP_001392401.1

EC 2.7.4.24

NP_001392402.1

EC 2.7.4.24

NP_776121.4

EC 2.7.4.24

XP_006529553.1

EC 2.7.4.24

XP_006529554.1

EC 2.7.4.24

XP_006529555.1

EC 2.7.4.24

XP_006529556.1

EC 2.7.4.24

XP_006529557.1

EC 2.7.4.24

XP_011246292.1

EC 2.7.4.24

XP_017175860.1

EC 2.7.4.24

XP_030109647.1

EC 2.7.4.24

XP_036020456.1

EC 2.7.4.24

XP_036020481.1

EC 2.7.4.24

XP_036020482.1

EC 2.7.4.24

XP_036020489.1

EC 2.7.4.24

XP_036020490.1

EC 2.7.4.24

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)

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

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405460.1 → NP_001392389.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 2

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405461.1 → NP_001392390.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 3

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405462.1 → NP_001392391.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 4

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405463.1 → NP_001392392.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 5

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405464.1 → NP_001392393.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 6

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405465.1 → NP_001392394.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 7

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405466.1 → NP_001392395.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 8

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405467.1 → NP_001392396.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 9

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405468.1 → NP_001392397.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 10

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
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
NM_001405470.1 → NP_001392399.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 13

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405471.1 → NP_001392400.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 14

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405472.1 → NP_001392401.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 15

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
NM_001405473.1 → NP_001392402.1 inositol hexakisphosphate and diphosphoinositol-pentakisphosphate kinase 2 isoform 16

Status: VALIDATED

Source sequence(s)

AC099860, AC102191, AC162298
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

NC_000067.7 Reference GRCm39 C57BL/6J

Range

97633768..97698133 complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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
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
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
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
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
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
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
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
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)
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)
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