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Aliases for INPP5E Gene

Aliases for INPP5E Gene

  • Inositol Polyphosphate-5-Phosphatase E 2 3 5
  • Phosphatidylinositol Polyphosphate 5-Phosphatase Type IV 3 4
  • Phosphatidylinositol-4,5-Bisphosphate 5-Phosphatase 3
  • Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase 4
  • Inositol Polyphosphate-5-Phosphatase, 72 KDa 2
  • 72 KDa Inositol Polyphosphate 5-Phosphatase 3
  • Joubert Syndrome 1 2
  • EC 4
  • PPI5PIV 3
  • Pharbin 3
  • CORS1 3
  • MORMS 3
  • JBTS1 3
  • CPD4 3

External Ids for INPP5E Gene

Previous HGNC Symbols for INPP5E Gene

  • JBTS1

Previous GeneCards Identifiers for INPP5E Gene

  • GC09P130372
  • GC09P130994
  • GC09M132764
  • GC09M134680
  • GC09M136598
  • GC09M138442
  • GC09M139323
  • GC09M108782

Summaries for INPP5E Gene

Entrez Gene Summary for INPP5E Gene

  • The protein encoded by this gene is an inositol 1,4,5-trisphosphate (InsP3) 5-phosphatase. InsP3 5-phosphatases hydrolyze Ins(1,4,5)P3, which mobilizes intracellular calcium and acts as a second messenger mediating cell responses to various stimulation. Studies of the mouse counterpart suggest that this protein may hydrolyze phosphatidylinositol 3,4,5-trisphosphate and phosphatidylinositol 3,5-bisphosphate on the cytoplasmic Golgi membrane and thereby regulate Golgi-vesicular trafficking. Mutations in this gene cause Joubert syndrome; a clinically and genetically heterogenous group of disorders characterized by midbrain-hindbrain malformation and various associated ciliopathies that include retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2016]

GeneCards Summary for INPP5E Gene

INPP5E (Inositol Polyphosphate-5-Phosphatase E) is a Protein Coding gene. Diseases associated with INPP5E include Joubert Syndrome 1 and Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis. Among its related pathways are Cargo trafficking to the periciliary membrane and Inositol phosphate metabolism (KEGG). GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity and inositol-polyphosphate 5-phosphatase activity. An important paralog of this gene is SYNJ2.

UniProtKB/Swiss-Prot for INPP5E Gene

  • Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates.

Gene Wiki entry for INPP5E Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INPP5E Gene

Genomics for INPP5E Gene

Regulatory Elements for INPP5E Gene

Enhancers for INPP5E Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09G136481 1.4 ENCODE dbSUPER 27.1 -43.8 -43819 4.6 HDGF PKNOX1 FOXA2 CREB3L1 AGO1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 INPP5E SEC16A SNAPC4 C9orf163
GH09G136370 1.3 Ensembl ENCODE 26.3 +67.3 67322 3.7 ATF1 CREB3L1 ARID4B SIN3A ZNF48 ZNF121 GLIS2 ZNF143 FOS ZNF263 DNLZ INPP5E SNAPC4 SEC16A GC09M136338
GH09G136403 1 Ensembl ENCODE 33.3 +35.5 35450 2.5 CTCF HDGF MXI1 ZIC2 RELA POLR2A EED ZNF143 ZNF600 ETV6 DNLZ INPP5E SNAPC4 SEC16A CARD9 GPSM1 PIR41359 GC09M136410 PIR36061
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around INPP5E on UCSC Golden Path with GeneCards custom track

Promoters for INPP5E Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000243016 659 1601 HDAC1 RB1 AGO1 ZNF76 SIN3A GLIS2 EGR1 ZNF143 KLF7 DEK

Genomic Location for INPP5E Gene

136,428,615 bp from pter
136,439,859 bp from pter
11,245 bases
Minus strand

Genomic View for INPP5E Gene

Genes around INPP5E on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INPP5E Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INPP5E Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INPP5E Gene

Proteins for INPP5E Gene

  • Protein details for INPP5E Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    72 kDa inositol polyphosphate 5-phosphatase
    Protein Accession:
    Secondary Accessions:
    • Q15734
    • Q6PIV5

    Protein attributes for INPP5E Gene

    644 amino acids
    Molecular mass:
    70205 Da
    Quaternary structure:
    • Interacts (when prenylated) with PDE6D; this is important for normal location in cilia.
    • Sequence=AAB03215.1; Type=Miscellaneous discrepancy; Note=Several sequencing problems.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for INPP5E Gene

    Alternative splice isoforms for INPP5E Gene


neXtProt entry for INPP5E Gene

Post-translational modifications for INPP5E Gene

  • Ubiquitination at posLast=521521
  • Modification sites at PhosphoSitePlus

Other Protein References for INPP5E Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for INPP5E Gene

Domains & Families for INPP5E Gene

Gene Families for INPP5E Gene

Protein Domains for INPP5E Gene

Suggested Antigen Peptide Sequences for INPP5E Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family.
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type IV family.
genes like me logo Genes that share domains with INPP5E: view

Function for INPP5E Gene

Molecular function for INPP5E Gene

UniProtKB/Swiss-Prot CatalyticActivity:
1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Active in the presence of octyl-glucoside or Triton X-100, but completely inhibited by CTAB.
UniProtKB/Swiss-Prot Function:
Converts phosphatidylinositol 3,4,5-trisphosphate (PtdIns 3,4,5-P3) to PtdIns-P2, and phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Specific for lipid substrates, inactive towards water soluble inositol phosphates.

Enzyme Numbers (IUBMB) for INPP5E Gene

Gene Ontology (GO) - Molecular Function for INPP5E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity TAS --
GO:0004445 inositol-polyphosphate 5-phosphatase activity TAS 10764818
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with INPP5E: view
genes like me logo Genes that share phenotypes with INPP5E: view

Human Phenotype Ontology for INPP5E Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for INPP5E Gene

MGI Knock Outs for INPP5E:

Animal Model Products

  • Taconic Biosciences Mouse Models for INPP5E

CRISPR Products

miRNA for INPP5E Gene

miRTarBase miRNAs that target INPP5E

Inhibitory RNA Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for INPP5E Gene

Localization for INPP5E Gene

Subcellular locations from UniProtKB/Swiss-Prot for INPP5E Gene

Cytoplasm, cytoskeleton, cilium axoneme. Golgi apparatus, Golgi stack membrane; Peripheral membrane protein; Cytoplasmic side. Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cell projection, ruffle. Cytoplasm. Note=Peripheral membrane protein associated with Golgi stacks. {ECO:0000250 UniProtKB:Q9JII1}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for INPP5E gene
Compartment Confidence
cytoskeleton 5
cytosol 5
golgi apparatus 4
plasma membrane 3
nucleus 2

Gene Ontology (GO) - Cellular Components for INPP5E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001726 ruffle IEA --
GO:0005737 cytoplasm IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol TAS --
GO:0005856 cytoskeleton IEA --
genes like me logo Genes that share ontologies with INPP5E: view

Pathways & Interactions for INPP5E Gene

genes like me logo Genes that share pathways with INPP5E: view

Gene Ontology (GO) - Biological Process for INPP5E Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0008150 biological_process ND --
GO:0046488 phosphatidylinositol metabolic process IEA --
GO:0046855 inositol phosphate dephosphorylation IEA --
genes like me logo Genes that share ontologies with INPP5E: view

No data available for SIGNOR curated interactions for INPP5E Gene

Drugs & Compounds for INPP5E Gene

(3) Drugs for INPP5E Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0

(3) Additional Compounds for INPP5E Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
genes like me logo Genes that share compounds with INPP5E: view

Transcripts for INPP5E Gene

mRNA/cDNA for INPP5E Gene

Unigene Clusters for INPP5E Gene

Inositol polyphosphate-5-phosphatase, 72 kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for INPP5E Gene

No ASD Table

Relevant External Links for INPP5E Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for INPP5E Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for INPP5E Gene

NURSA nuclear receptor signaling pathways regulating expression of INPP5E Gene:


SOURCE GeneReport for Unigene cluster for INPP5E Gene:


mRNA Expression by UniProt/SwissProt for INPP5E Gene:

Tissue specificity: Detected in brain, heart, pancreas, testis and spleen.

Evidence on tissue expression from TISSUES for INPP5E Gene

  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for INPP5E Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • nose
  • outer ear
  • salivary gland
  • skull
  • tongue
  • tooth
  • breast
  • diaphragm
  • esophagus
  • heart
  • lung
  • biliary tract
  • gallbladder
  • kidney
  • liver
  • pancreas
  • spleen
  • penis
  • testicle
  • ureter
  • urinary bladder
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with INPP5E: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression and Protein tissue co-expression partners for INPP5E Gene

Orthologs for INPP5E Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for INPP5E Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia INPP5E 34 35
  • 99.22 (n)
(Bos Taurus)
Mammalia INPP5E 34 35
  • 80.03 (n)
(Canis familiaris)
Mammalia INPP5E 34 35
  • 78.42 (n)
(Mus musculus)
Mammalia Inpp5e 34 16 35
  • 78.41 (n)
(Ornithorhynchus anatinus)
Mammalia INPP5E 35
  • 78 (a)
(Rattus norvegicus)
Mammalia Inpp5e 34
  • 77.5 (n)
(Monodelphis domestica)
Mammalia INPP5E 35
  • 63 (a)
(Gallus gallus)
Aves INPP5E 34 35
  • 67.02 (n)
(Anolis carolinensis)
Reptilia INPP5E 35
  • 63 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia inpp5e 34
  • 63.14 (n)
Str.12903 34
(Danio rerio)
Actinopterygii inpp5e 34 35
  • 65.45 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8728 36
  • 54 (a)
CG10426 35
  • 29 (a)
(Caenorhabditis elegans)
Secernentea Y71G12B.24 36
  • 40 (a)
T25B9.10 35
  • 21 (a)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes INP51 35
  • 12 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 47 (a)
Species where no ortholog for INPP5E was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for INPP5E Gene

Gene Tree for INPP5E (if available)
Gene Tree for INPP5E (if available)

Paralogs for INPP5E Gene

Paralogs for INPP5E Gene

genes like me logo Genes that share paralogs with INPP5E: view

Variants for INPP5E Gene

Sequence variations from dbSNP and Humsavar for INPP5E Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs121918128 Pathogenic, Joubert syndrome 1 (JBTS1) [MIM:213300] 136,430,391(-) AAGCC(A/G)CCACA nc-transcript-variant, reference, missense
rs121918129 Pathogenic, Joubert syndrome 1 (JBTS1) [MIM:213300] 136,432,562(-) GGAGC(A/G)GCTGC nc-transcript-variant, reference, missense
rs121918130 Pathogenic, Joubert syndrome 1 (JBTS1) [MIM:213300] 136,433,182(-) TCATC(C/T)GCAGG nc-transcript-variant, reference, missense
rs13297509 Pathogenic, Joubert syndrome 1 (JBTS1) [MIM:213300] 136,431,830(+) TTTCC(A/G/T)CATCT nc-transcript-variant, reference, synonymous-codon, missense
rs374152018 Joubert syndrome 1 (JBTS1) [MIM:213300] 136,431,839(+) CTCCC(A/G)GATGA nc-transcript-variant, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for INPP5E Gene

Variant ID Type Subtype PubMed ID
dgv4172n106 CNV deletion 24896259
esv1287350 CNV deletion 17803354
esv1420798 CNV deletion 17803354
esv2426973 CNV deletion 19546169
esv2759720 CNV loss 17122850
esv28108 CNV gain+loss 19812545
esv3622008 CNV gain 21293372
nsv1075693 CNV deletion 25765185
nsv469918 CNV loss 18288195
nsv509333 CNV insertion 20534489
nsv615963 CNV loss 21841781
nsv6766 CNV insertion 18451855
nsv825173 CNV gain 20364138
nsv831760 CNV loss 17160897
nsv951202 CNV deletion 24416366

Variation tolerance for INPP5E Gene

Residual Variation Intolerance Score: 57.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.25; 40.41% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INPP5E Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPP5E Gene

Disorders for INPP5E Gene

MalaCards: The human disease database

(14) MalaCards diseases for INPP5E Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
joubert syndrome 1
  • joubert syndrome
mental retardation, truncal obesity, retinal dystrophy, and micropenis
  • mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome
joubert syndrome with ocular anomalies
  • jbts3
coach syndrome
  • cerebellar vermis hypo/aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis
inpp5e-related joubert syndrome
- elite association - COSMIC cancer census association via MalaCards


  • Joubert syndrome 1 (JBTS1) [MIM:213300]: A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. {ECO:0000269 PubMed:19668216, ECO:0000269 PubMed:23034536, ECO:0000269 PubMed:23386033}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORMS) [MIM:610156]: An autosomal recessive disorder characterized by moderate mental retardation, truncal obesity, congenital non-progressive retinal dystrophy, and micropenis in males. The phenotype is similar to Bardet-Biedl syndrome and Cohen syndrome Distinguishing features are the age of onset, the non-progressive nature of the visual impairment, lack of dysmorphic facies, skin or gingival infection, microcephaly, mottled retina, polydactyly, and testicular anomalies. {ECO:0000269 PubMed:19668215}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for INPP5E

Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with INPP5E: view

No data available for Genatlas for INPP5E Gene

Publications for INPP5E Gene

  1. Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. (PMID: 19668216) Bielas S.L. … Gleeson J.G. (Nat. Genet. 2009) 2 3 4 22 64
  2. The isolation and characterization of a cDNA encoding phospholipid- specific inositol polyphosphate 5-phosphatase. (PMID: 10764818) Kisseleva M.V. … Majerus P.W. (J. Biol. Chem. 2000) 2 3 4 64
  3. Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. (PMID: 23386033) Travaglini L. … Valente E.M. (Eur. J. Hum. Genet. 2013) 3 4 64
  4. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. (PMID: 24166846) Thomas S. … AttiAc-Bitach T. (Hum. Mutat. 2013) 3 4 64
  5. INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse. (PMID: 19668215) Jacoby M. … Schurmans S. (Nat. Genet. 2009) 3 4 64

Products for INPP5E Gene

Sources for INPP5E Gene

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