About   Help   FAQ
Inpp5e Gene Detail
Summary
  • Symbol
    Inpp5e
  • Name
    inositol polyphosphate-5-phosphatase E
  • Synonyms
    1200002L24Rik, 72kDa, mKIAA0123
  • Feature Type
    protein coding gene
  • IDs
    MGI:1927753
    NCBI Gene: 64436
  • Alliance
    gene page
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:26286261-26299215 bp, - strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 2, 18.88 cM, cytoband A3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    301 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1927753
 protein coding gene Chr2:26286261-26299313 (-)
129S1/SvImJ MGP_129S1SvImJ_G0025488
 protein coding gene Chr2:24345853-24360154 (-)
A/J MGP_AJ_G0025465
 protein coding gene Chr2:23413829-23426419 (-)
AKR/J MGP_AKRJ_G0025435
 protein coding gene Chr2:24175644-24189517 (-)
BALB/cJ MGP_BALBcJ_G0025461
 protein coding gene Chr2:23522503-23535411 (-)
C3H/HeJ MGP_C3HHeJ_G0025222
 protein coding gene Chr2:24135265-24148346 (-)
C57BL/6NJ MGP_C57BL6NJ_G0025905
 protein coding gene Chr2:25129561-25143591 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0023316
 protein coding gene Chr2:22293804-22306742 (-)
CAST/EiJ MGP_CASTEiJ_G0024685
 protein coding gene Chr2:24007026-24021721 (-)
CBA/J MGP_CBAJ_G0025200
 protein coding gene Chr2:25980741-25996572 (-)
DBA/2J MGP_DBA2J_G0025333
 protein coding gene Chr2:23235362-23248123 (-)
FVB/NJ MGP_FVBNJ_G0025295
 protein coding gene Chr2:22987017-22999773 (-)
LP/J MGP_LPJ_G0025419
 protein coding gene Chr2:24290814-24303416 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0025326
 protein coding gene Chr2:26132896-26146618 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0025964
 protein coding gene Chr2:24133859-24147941 (-)
PWK/PhJ MGP_PWKPhJ_G0024433
 protein coding gene Chr2:23038515-23051727 (-)
SPRET/EiJ MGP_SPRETEiJ_G0024233
 protein coding gene Chr2:24267973-24280737 (-)
WSB/EiJ MGP_WSBEiJ_G0024754
 protein coding gene Chr2:24240517-24254241 (-)



Homology
more
  • Human Ortholog
    INPP5E, inositol polyphosphate-5-phosphatase E
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    INPP5E, inositol polyphosphate-5-phosphatase E
  • Synonyms
    CORS1, CPD4, JBTS1, MORMS, pharbin, PPI5PIV
  • Links
    NCBI Gene ID: 56623
    neXtProt AC: NX_Q9NRR6
    UniProt: Q9NRR6

  • Chr Location
    9q34.3; chr9:136428619-136439845 (-)  GRCh38
Human Diseases
more
  • Diseases
    2 with human INPP5E associations

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

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    37 phenotypes from 4 alleles in 5 genetic backgrounds
    25 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 for a null mutation display signs of ciliopathies including prenatal and perinatal lethality, polycystic kidneys, arrest of eye development, abnormalities in primary cilia, cerebral developmental defects, and skeletal defects.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    34
  • GO References
    13
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
    959
  • Tissues
    157
  • cDNA Data
    15
  • Literature Summary
    6
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000026925 Ensembl Gene Model | MGI Sequence Detail 12955 C57BL/6J ±  kb
    transcript ENSMUST00000145701 Ensembl | MGI Sequence Detail 4147 Not Applicable  
    polypeptide ENSMUSP00000119485 Ensembl | MGI Sequence Detail 647 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 16
      cDNA 15
      Other 1

      Microarray probesets 4
    Other
    Accession IDs
    less
    MGI:1914115
    References
    more
    • Summaries
      All 66
      Developmental Gene Expression 6
      Gene Ontology 13
      Phenotypes 25
    • Earliest
      J:63827 Kong AM, et al., Cloning and characterization of a 72-kDa inositol-polyphosphate 5-phosphatase localized to the Golgi network. J Biol Chem. 2000 Aug 4;275(31):24052-64
    • Latest
      J:350882 Tham MS, et al., Deletion of Aurora kinase A prevents the development of polycystic kidney disease in mice. Nat Commun. 2024 Jan 8;15(1):371
    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
    Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
    Send questions and comments to User Support.     		last database update
    10/29/2024
    MGI 6.24     		The Jackson Laboratory