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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
  • Transcription Start Sites
    6 TSS
Location &
Maps
more
  • Sequence Map
    Chr1:97706043-97770406 bp, - strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 1, 47.76 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    502 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 Chr1:97706043-97770411 (-)
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
    8
  • Human Ortholog
    PPIP5K2, diphosphoinositol pentakisphosphate kinase 2
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CFAP160, DFNB100, HISPPD1, IP7K2, VIP2
  • Links
    NCBI Gene ID: 23262
    neXtProt AC: NX_O43314
    UniProt: O43314

  • Chr Location
    5q21.1; chr5:103120254-103203523 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with Ppip5k2 mouse models

Human Disease Mouse Models
      
IDs
View 1 model
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
    4 phenotypes from 1 allele in 1 genetic background
    15 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic 227399 NCBI Gene Model | MGI Sequence Detail 64364 C57BL/6J ±  kb
transcript NM_173760 RefSeq | MGI Sequence Detail 5568 C57BL/6  
polypeptide Q6ZQB6 UniProt | EBI | MGI Sequence Detail 1129 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 15
    cDNA 15

    Microarray probesets 3
References
more
  • Summaries
    All 40
    Developmental Gene Expression 1
    Diseases 1
    Gene Ontology 6
    Phenotypes 15
  • 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:260825 Yousaf R, et al., Mutations in Diphosphoinositol-Pentakisphosphate Kinase PPIP5K2 are associated with hearing loss in human and mouse. PLoS Genet. 2018 Mar;14(3):e1007297

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory