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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
Location & Maps
more
  • Sequence Map
    Chr2:26396249-26409203 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      12955 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 18.88 cM, cytoband A3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    INPP5E, inositol polyphosphate-5-phosphatase E
  • Vertebrate Orthologs
    10
  • Human Ortholog
    INPP5E, inositol polyphosphate-5-phosphatase E
    Orthology source: HGNC, HomoloGene
  • Synonyms
    CORS1, CPD4, JBTS1, MORMS, PPI5PIV
  • Links
    NCBI Gene ID: 56623
    neXtProt AC: NX_Q9NRR6

  • Chr Location
    9q34.3; chr9:136428615-136439859 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human INPP5E associations

Human Disease Mouse Models
       Joubert Syndrome 1; JBTS1   OMIM: 213300
Mental Retardation, Truncal Obesity, Retinal Dystrophy, and Micropenis Syndrome; MORMS   OMIM: 610156
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    26 phenotypes from 4 alleles in 4 genetic backgrounds
    8 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.
  • All Mutations and Alleles
    7
  • Chemically induced (ENU)
    1
  • Gene trapped
    1
  • Targeted
    5
  • Incidental Mutations
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
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  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
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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
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000012777 VEGA Gene Model | MGI Sequence Detail 12955 C57BL/6J ±  kb
transcript OTTMUST00000030592 VEGA | MGI Sequence Detail 4147 Not Applicable  
polypeptide OTTMUSP00000013735 VEGA | MGI Sequence Detail 647 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    64 from dbSNP Build 142
Protein
Information
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  • UniProt
    5 Sequences
  • Protein Ontology
    PR:000009049 72 kDa inositol polyphosphate 5-phosphatase
  • EC
  • InterPro Domains
    IPR005135 Endonuclease/exonuclease/phosphatase
    IPR000300 Inositol polyphosphate-related phosphatase
Molecular
Reagents
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  • All nucleic 15
    cDNA 14
    Other 1

    Microarray probesets 4
Other
Accession IDs
less
MGI:1914115
References
more
  • Summaries
    All 36
    Developmental Gene Expression 3
    Gene Ontology 5
    Phenotypes 8
  • 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:220860 Magnani D, et al., The ciliogenic transcription factor Rfx3 is required for the formation of the thalamocortical tract by regulating the patterning of prethalamus and ventral telencephalon. Hum Mol Genet. 2015 May 1;24(9):2578-93

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory