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Aliases for INPP5B Gene

Aliases for INPP5B Gene

  • Inositol Polyphosphate-5-Phosphatase B 2 3 5
  • Type II Inositol 1,4,5-Trisphosphate 5-Phosphatase 2 3
  • Inositol Polyphosphate-5-Phosphatase, 75kDa 2 3
  • Phosphoinositide 5-Phosphatase 3 4
  • EC 3.1.3.36 4 61
  • 5PTASE 3 4
  • 75 KDa Inositol Polyphosphate-5-Phosphatase 4
  • Inositol Polyphosphate-5-Phosphatase, 75kD 2
  • EC 3.1.3 61
  • OCRL2 4

External Ids for INPP5B Gene

Previous GeneCards Identifiers for INPP5B Gene

  • GC01M038162
  • GC01M037382
  • GC01M037754
  • GC01M037809
  • GC01M037807
  • GC01M037996
  • GC01M038326
  • GC01M036444

Summaries for INPP5B Gene

Entrez Gene Summary for INPP5B Gene

  • This gene encodes a member of a family of inositol polyphosphate-5-phosphatases. These enzymes function in the regulation of calcium signaling by inactivating inositol phosphates. The encoded protein is localized to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus. Alternatively spliced transcript variants of this gene have been described. [provided by RefSeq, Jul 2014]

GeneCards Summary for INPP5B Gene

INPP5B (Inositol Polyphosphate-5-Phosphatase B) is a Protein Coding gene. Diseases associated with INPP5B include Lowe Syndrome. Among its related pathways are Inositol phosphate metabolism (KEGG) and Inositol phosphate metabolism (REACTOME). GO annotations related to this gene include phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity and inositol-1,4,5-trisphosphate 5-phosphatase activity. An important paralog of this gene is OCRL.

UniProtKB/Swiss-Prot for INPP5B Gene

  • Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events.

Gene Wiki entry for INPP5B Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for INPP5B Gene

Genomics for INPP5B Gene

Regulatory Elements for INPP5B Gene

Enhancers for INPP5B 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
GH01G037850 1.6 FANTOM5 Ensembl ENCODE dbSUPER 36.9 +95.2 95184 3.8 NR2F1 HLF CEBPB CEBPG ZNF316 GATA2 ZNF366 NR2C1 HMBOX1 NR2F6 MTF1 INPP5B ZC3H12A YRDC C1orf122 ENSG00000233728 SNIP1 RPS2P13
GH01G037900 1 Ensembl ENCODE 39.3 +45.5 45525 2.0 PKNOX1 MTA2 RNF2 NR2F1 BACH1 TRIM22 GATAD2B DPF2 RELA SP1 INPP5B FHL3 ENSG00000230955 MTF1 UTP11 RNU6-584P LOC105378651
GH01G038008 1.7 Ensembl ENCODE dbSUPER 23.1 -65.8 -65826 9.3 MLX CREB3L1 ZFP64 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 NFYC INPP5B RNU6-510P SF3A3 ENSG00000230955 MTF1 YRDC C1orf122 CDCA8 C1orf109 UTP11
GH01G037858 1.4 ENCODE dbSUPER 25.8 +87.2 87230 3.4 HDGF PKNOX1 ARNT AGO1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 ZBTB7B SF3A3 GNL2 INPP5B SNIP1 UTP11 FTH1P1 FHL3 MTF1 ENSG00000230955
GH01G037864 1 ENCODE dbSUPER 32.8 +81.5 81454 2.5 GTF2F1 TBP PKNOX1 KLF1 JUN ZNF133 MAX CEBPG FOSL1 CTBP1 INPP5B FHL3 ENSG00000230955 ENSG00000252448
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around INPP5B on UCSC Golden Path with GeneCards custom track

Promoters for INPP5B Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000004912 384 1001 HDGF PKNOX1 CREB3L1 ARNT ARID4B SIN3A ZNF2 YY1 SLC30A9 ZNF766

Genomic Location for INPP5B Gene

Chromosome:
1
Start:
37,860,697 bp from pter
End:
37,947,084 bp from pter
Size:
86,388 bases
Orientation:
Minus strand

Genomic View for INPP5B Gene

Genes around INPP5B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
INPP5B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for INPP5B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for INPP5B Gene

Proteins for INPP5B Gene

  • Protein details for INPP5B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P32019-I5P2_HUMAN
    Recommended name:
    Type II inositol 1,4,5-trisphosphate 5-phosphatase
    Protein Accession:
    P32019
    Secondary Accessions:
    • C9J6U5
    • Q5VSG9
    • Q5VSH0
    • Q5VSH1
    • Q658Q5
    • Q6P6D4
    • Q6PD53
    • Q86YE1

    Protein attributes for INPP5B Gene

    Size:
    993 amino acids
    Molecular mass:
    112852 Da
    Quaternary structure:
    • Interacts with APPL1, FAM109A and FAM109B. Interacts with several Rab GTPases, at least RAB1A, RAB2A, RAB5A, RAB6A, RAB8A, RAB9A and RAB33B; these interactions may play a dual role in targeting INPP5B to the specific membranes and stimulating the phosphatase activity. Interacts with INPP5F (PubMed:25869668).
    SequenceCaution:
    • Sequence=AAA79207.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for INPP5B Gene

    Alternative splice isoforms for INPP5B Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for INPP5B Gene

Selected DME Specific Peptides for INPP5B Gene

P32019:
  • WLGDLNYR
  • DTSEKCR

Post-translational modifications for INPP5B Gene

  • Isoprenylation at Cys-990 may be required for localization at the membrane.
  • May be proteolytically cleaved after Lys-320 as inferred from N-terminal protein sequence of the 75 kda form.
  • Ubiquitination at isoforms=2, 3, 4312 and isoforms=2, 3, 4404
  • Modification sites at PhosphoSitePlus

Domains & Families for INPP5B Gene

Gene Families for INPP5B Gene

Suggested Antigen Peptide Sequences for INPP5B Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P32019

UniProtKB/Swiss-Prot:

I5P2_HUMAN :
  • The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described. The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature, all three interactions relie on F&H motifs, an approximately 12-13 amino-acid sequence centered around Phe and His residues essential for binding (By similarity).
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
Domain:
  • The ASH (ASPM-SPD2-Hydin) and RhoGAP (Rho GTPase activating) domains form a single folding module. The ASH domain has an immunoglobulin-like fold, the Rho-GAP domain lacks the catalytic arginine and is catalytically inactive. The ASH-RhoGAP module regulates the majority of the protein-protein interactions currently described. The ASH domain mediates association with membrane-targeting Rab GTPases. The Rho-GAP domain interacts with the endocytic adapter APPL1, which is then displaced by FAM109A and FAM109B as endosomes mature, all three interactions relie on F&H motifs, an approximately 12-13 amino-acid sequence centered around Phe and His residues essential for binding (By similarity).
Family:
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
genes like me logo Genes that share domains with INPP5B: view

Function for INPP5B Gene

Molecular function for INPP5B Gene

GENATLAS Biochemistry:
inositol 1,4,5-triphosphate 5-phosphatase (75kDa),expressed in megakaryocytes,placenta,signal terminating reaction in the inositol signaling pathway
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 Function:
Hydrolyzes phosphatidylinositol 4,5-bisphosphate (PtIns(4,5)P2) and the signaling molecule phosphatidylinositol 1,4,5-trisphosphate (PtIns(1,4,5)P3), and thereby modulates cellular signaling events.

Enzyme Numbers (IUBMB) for INPP5B Gene

Gene Ontology (GO) - Molecular Function for INPP5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity IDA,IEA 7721860
GO:0005096 GTPase activator activity TAS --
GO:0005515 protein binding IPI 21233288
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with INPP5B: view
genes like me logo Genes that share phenotypes with INPP5B: view

Animal Models for INPP5B Gene

MGI Knock Outs for INPP5B:

Animal Model Products

  • Taconic Biosciences Mouse Models for INPP5B

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for INPP5B Gene

Localization for INPP5B Gene

Subcellular locations from UniProtKB/Swiss-Prot for INPP5B Gene

Cytoplasm, cytosol. Endoplasmic reticulum-Golgi intermediate compartment. Early endosome membrane. Membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, phagosome membrane. Golgi apparatus.

Subcellular locations from

COMPARTMENTS
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 INPP5B gene
Compartment Confidence
plasma membrane 5
cytosol 5
golgi apparatus 4
endosome 4
nucleus 2
extracellular 1

Gene Ontology (GO) - Cellular Components for INPP5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005768 endosome IEA --
GO:0005793 endoplasmic reticulum-Golgi intermediate compartment IEA --
GO:0005794 Golgi apparatus IEA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with INPP5B: view

Pathways & Interactions for INPP5B Gene

genes like me logo Genes that share pathways with INPP5B: view

Gene Ontology (GO) - Biological Process for INPP5B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0007165 signal transduction IEA --
GO:0007283 spermatogenesis IEA --
GO:0030317 flagellated sperm motility IEA --
GO:0043547 positive regulation of GTPase activity IEA --
genes like me logo Genes that share ontologies with INPP5B: view

No data available for SIGNOR curated interactions for INPP5B Gene

Drugs & Compounds for INPP5B Gene

(4) Drugs for INPP5B Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
D-Myo-Inositol-1,4-Bisphosphate Experimental Pharma Target 0
calcium Nutra 0

(2) Additional Compounds for INPP5B Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (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
Phosphate
  • NFB Orthophosphate
  • O-Phosphoric acid
  • Ortho-phosphate
  • Orthophosphate (PO43-)
  • Orthophosphate(3-)
14265-44-2
genes like me logo Genes that share compounds with INPP5B: view

Transcripts for INPP5B Gene

Unigene Clusters for INPP5B Gene

Inositol polyphosphate-5-phosphatase, 75kDa:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for INPP5B Gene

No ASD Table

Relevant External Links for INPP5B Gene

GeneLoc Exon Structure for
INPP5B
ECgene alternative splicing isoforms for
INPP5B

Expression for INPP5B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for INPP5B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for INPP5B Gene

This gene is overexpressed in Lymph node (28.9) and Peripheral blood mononuclear cells (25.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for INPP5B Gene



Protein tissue co-expression partners for INPP5B Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of INPP5B Gene:

INPP5B

SOURCE GeneReport for Unigene cluster for INPP5B Gene:

Hs.449942

mRNA Expression by UniProt/SwissProt for INPP5B Gene:

P32019-I5P2_HUMAN
Tissue specificity: Platelets.

Evidence on tissue expression from TISSUES for INPP5B Gene

  • Stomach(4.2)
genes like me logo Genes that share expression patterns with INPP5B: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for INPP5B Gene

Orthologs for INPP5B Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for INPP5B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia INPP5B 34 35
  • 98.42 (n)
dog
(Canis familiaris)
Mammalia INPP5B 34 35
  • 89.52 (n)
cow
(Bos Taurus)
Mammalia INPP5B 34 35
  • 87.72 (n)
rat
(Rattus norvegicus)
Mammalia Inpp5b 34
  • 85.8 (n)
mouse
(Mus musculus)
Mammalia Inpp5b 34 16 35
  • 82.2 (n)
oppossum
(Monodelphis domestica)
Mammalia INPP5B 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia INPP5B 35
  • 64 (a)
OneToOne
chicken
(Gallus gallus)
Aves INPP5B 34 35
  • 73.48 (n)
lizard
(Anolis carolinensis)
Reptilia INPP5B 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100497120 34
  • 68.05 (n)
zebrafish
(Danio rerio)
Actinopterygii LOC563543 34
  • 62.25 (n)
inpp5b 35
  • 60 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta Ocrl 35
  • 32 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea ocrl-1 34 35
  • 43.64 (n)
rice
(Oryza sativa)
Liliopsida Os08g0425500 34
  • 49.83 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
ManyToMany
-- 35
  • 41 (a)
ManyToMany
Species where no ortholog for INPP5B 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)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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 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 INPP5B Gene

ENSEMBL:
Gene Tree for INPP5B (if available)
TreeFam:
Gene Tree for INPP5B (if available)

Paralogs for INPP5B Gene

Paralogs for INPP5B Gene

(1) SIMAP similar genes for INPP5B Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with INPP5B: view

Variants for INPP5B Gene

Sequence variations from dbSNP and Humsavar for INPP5B Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs1000021776 -- 37,883,885(+) AGTGG(C/T)GTATG intron-variant
rs1000027966 -- 37,904,104(+) GACAG(A/G)TCACG intron-variant
rs1000097446 -- 37,883,683(+) TGCAG(A/G)TTCAC intron-variant
rs1000123130 -- 37,928,164(+) CGTGA(A/T)TCAAA intron-variant
rs1000167692 -- 37,864,937(+) ATCCC(A/G)GCACT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for INPP5B Gene

Variant ID Type Subtype PubMed ID
esv1640356 CNV deletion 17803354
esv2747275 CNV deletion 23290073
esv3560948 CNV deletion 23714750
nsv1008462 CNV gain 25217958
nsv1145335 CNV deletion 24896259
nsv472321 CNV novel sequence insertion 20440878
nsv510 CNV insertion 18451855

Variation tolerance for INPP5B Gene

Residual Variation Intolerance Score: 13% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.56; 91.20% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for INPP5B Gene

Human Gene Mutation Database (HGMD)
INPP5B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
INPP5B

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for INPP5B Gene

Disorders for INPP5B Gene

MalaCards: The human disease database

(1) MalaCards diseases for INPP5B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lowe syndrome
  • lowe oculocerebrorenal syndrome
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for INPP5B

Genetic Association Database (GAD)
INPP5B
Human Genome Epidemiology (HuGE) Navigator
INPP5B
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
INPP5B
genes like me logo Genes that share disorders with INPP5B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for INPP5B Gene

Publications for INPP5B Gene

  1. Cloning and expression of human 75-kDa inositol polyphosphate-5- phosphatase. (PMID: 1718960) Ross T.S. … Majerus P.W. (J. Biol. Chem. 1991) 2 3 4 64
  2. Sac2/INPP5F is an inositol 4-phosphatase that functions in the endocytic pathway. (PMID: 25869668) Nakatsu F. … De Camilli P. (J. Cell Biol. 2015) 3 4 64
  3. The PH domain proteins IPIP27A and B link OCRL1 to receptor recycling in the endocytic pathway. (PMID: 21233288) Noakes C.J. … Lowe M. (Mol. Biol. Cell 2011) 3 4 64
  4. Novel association strategy with copy number variation for identifying new risk Loci of human diseases. (PMID: 20808825) Chen X. … Kong X. (PLoS ONE 2010) 3 46 64
  5. Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase. (PMID: 19700499) Coon B.G. … Aguilar R.C. (Hum. Mol. Genet. 2009) 3 22 64

Products for INPP5B Gene

Sources for INPP5B Gene

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