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Ppip5k2 Gene Detail
Summary
  • Symbol
    Ppip5k2
  • Name
    diphosphoinositol pentakisphosphate kinase 2
  • Synonyms
    Cfap160, Hisppd1, mKIAA0433, Vip2
  • Feature Type
    protein coding gene
  • IDs
    MGI:2142810
    NCBI Gene: 227399
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:97633773-97698136 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 1, 47.76 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1529 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2142810
 protein coding gene Chr1:97633768-97698136 (-)
129S1/SvImJ MGP_129S1SvImJ_G0016359
 protein coding gene Chr1:99477955-99548000 (-)
A/J MGP_AJ_G0016343
 protein coding gene Chr1:95993359-96057844 (-)
AKR/J MGP_AKRJ_G0016303
 protein coding gene Chr1:98768120-98836207 (-)
BALB/cJ MGP_BALBcJ_G0016299
 protein coding gene Chr1:96149310-96218649 (-)
C3H/HeJ MGP_C3HHeJ_G0016126
 protein coding gene Chr1:99069852-99134131 (-)
C57BL/6NJ MGP_C57BL6NJ_G0016758
 protein coding gene Chr1:103418510-103490269 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0014476
 protein coding gene Chr1:90268905-90331980 (-)
CAST/EiJ MGP_CASTEiJ_G0015708
 protein coding gene Chr1:98185708-98252409 (-)
CBA/J MGP_CBAJ_G0016099
 protein coding gene Chr1:106804035-106877854 (-)
DBA/2J MGP_DBA2J_G0016204
 protein coding gene Chr1:95202195-95266611 (-)
FVB/NJ MGP_FVBNJ_G0016205
 protein coding gene Chr1:94194398-94260338 (-)
LP/J MGP_LPJ_G0016278
 protein coding gene Chr1:100762463-100834384 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0016231
 protein coding gene Chr1:110504413-110605817 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0016797
 protein coding gene Chr1:98779141-98846178 (-)
PWK/PhJ MGP_PWKPhJ_G0015496
 protein coding gene Chr1:94386581-94452363 (-)
SPRET/EiJ MGP_SPRETEiJ_G0015280
 protein coding gene Chr1:97618508-97684882 (-)
WSB/EiJ MGP_WSBEiJ_G0015771
 protein coding gene Chr1:98616117-98681713 (-)



Homology
more
  • Human Ortholog
    PPIP5K2, diphosphoinositol pentakisphosphate kinase 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PPIP5K2, diphosphoinositol pentakisphosphate kinase 2
  • Synonyms
    CFAP160, DFNB100, HISPPD1, IP7K2, VIP2
  • Links
    NCBI Gene ID: 23262
    neXtProt AC: NX_O43314
    UniProt: O43314

  • Chr Location
    5q21.1; chr5:103120149-103212799 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Ppip5k2 mouse models; 1 with human PPIP5K2 associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    5 phenotypes from 2 alleles in 2 genetic backgrounds
    20 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Mice homozygous or heterozygous for a targeted deletion of the phosphatase domain exhibit progressive hearing loss with increased auditory-evoked brainstem response (ABR) thresholds and cochlear outer hair cell degeneration.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    7
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    954
  • Tissues
    49
  • cDNA Data
    15
  • Literature Summary
    2
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000040648 Ensembl Gene Model | MGI Sequence Detail 64364 C57BL/6J ±  kb
transcript ENSMUST00000112845 Ensembl | MGI Sequence Detail 6239 Not Applicable  
polypeptide ENSMUSP00000108466 Ensembl | MGI Sequence Detail 1242 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 15

    Microarray probesets 3
References
more
  • Summaries
    All 48
    Developmental Gene Expression 2
    Diseases 1
    Gene Ontology 7
    Phenotypes 20
  • Earliest
    J:134667 Roderick TH, et al., Two radiation-induced chromosomal inversions in mice (Mus musculus). Proc Natl Acad Sci U S A. 1970 Oct;67(2):961-7
  • Latest
    J:345621 Adams DJ, et al., Genetic determinants of micronucleus formation in vivo. Nature. 2024 Mar;627(8002):130-136
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
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Send questions and comments to User Support. 		last database update
10/22/2024
MGI 6.24 		The Jackson Laboratory