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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

INPP5B Gene

protein-coding GIFtS: 59
GCID: GC01M038326

inositol polyphosphate-5-phosphatase, 75kDa

(Previous names: inositol polyphosphate-5-phosphatase, 75kD )

Explore 1 disease affiliated with
INPP5B via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Inositol Polyphosphate-5-Phosphatase, 75kDa¹ ²		Inositol Polyphosphate-5-Phosphatase, 75kD¹
Phosphoinositide 5-Phosphatase² ³		Type II Inositol 1,4,5-Trisphosphate 5-Phosphatase²
5PTase² ³		Type II Inositol-1,4,5-Trisphosphate 5-Phosphatase²
75 KDa Inositol Polyphosphate-5-Phosphatase² ³		OCRL2³
EC 3.1.3.36³ ⁸		EC 3.1.3⁸

External Ids:	HGNC: 6077¹	Entrez Gene: 3633²	Ensembl: ENSG00000204084⁷	OMIM: 147264⁵	UniProtKB: P32019³

Export aliases for INPP5B gene to outside databases

Previous GC identifers: GC01M038162 GC01M037382 GC01M037754 GC01M037809 GC01M037807 GC01M037996 GC01M036444

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for INPP5B:

Cellular calcium signaling is controlled by the production of inositol phosphates (IPs) by phospholipase C in response

to extracellular signals. The IP signaling molecules are inactivated by a family of inositol

polyphosphate-5-phosphatases (5-phosphatases). This gene encodes the type II 5-phosphatase. The protein is localized

to the cytosol and mitochondria, and associates with membranes through an isoprenyl modification near the C-terminus.

Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some

of these variants has not been determined. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: I5P2_HUMAN, P32019

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

Gene Wiki entry for INPP5B

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000001.10 NC_018912.1 NT_032977.9

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the INPP5B gene promoter:
GR Spz1 USF1 Tal-1 GR-beta CUTL1 E47 NRF-2 USF-1 GR-alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: INPP5B promoter sequence

Search SABiosciences Chromatin IP Primers for INPP5B

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat INPP5B

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p34 Ensembl cytogenetic band: 1p34.3 HGNC cytogenetic band: 1p34

INPP5B Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
INPP5B gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M038326: view genomic region (about GC identifiers)

Start:	38,326,369 bp from pter	End:	38,412,729 bp from pter
Size:	86,361 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: I5P2_HUMAN, P32019 (See protein sequence)

Recommended Name: Type II inositol 1,4,5-trisphosphate 5-phosphatase

Size: 993 amino acids; 112852 Da

Subunit: 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

Subcellular location: Cytoplasm, cytosol. Endoplasmic reticulum-Golgi intermediate compartment. Early endosome

membrane. Membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasmic vesicle, phagosome membrane (By

similarity). Golgi apparatus

Sequence caution: Sequence=AAA79207.1; Type=Erroneous initiation; Note=Translation N-terminally shortened;

2 PDB 3D structures from and Proteopedia for INPP5B:

3MTC (3D)

3N9V (3D)

Secondary accessions: C9J6U5 Q5VSG9 Q5VSH0 Q5VSH1 Q658Q5 Q6P6D4 Q6PD53 Q86YE1

Alternative splicing: 4 isoforms: P32019-1 P32019-2 P32019-3 P32019-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for INPP5B: NX_P32019

Post-translational modifications:

Isoprenylation at Cys-990 may be required for localization at the membrane¹

May be proteolytically cleaved after Lys-320 as inferred from N-terminal protein sequence of the 75 kda form

(PubMed:1718960)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P32019

2 DME Specific Peptides for INPP5B (P32019)

DTSEKCR

WLGDLNYR

INPP5B Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_005531.2

ENSEMBL proteins:

ENSP00000362118 ENSP00000362117 ENSP00000362115 ENSP00000362112 ENSP00000362114

ENSP00000397748

Reactome Protein details: P32019
Human Recombinant Protein Products:

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	Uscn Proteins for INPP5B

Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005737	cytoplasm	IDA	--
GO:0005793	endoplasmic reticulum-Golgi intermediate compartment	IEA	--
GO:0005794	Golgi apparatus	IEA	--
GO:0005829	cytosol	TAS	--
GO:0015630	microtubule cytoskeleton	IDA	--

INPP5B for ontologies About GeneDecksing

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	Uscn ELISAs and CLIAs for INPP5B

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

INPP5B for domains About GeneDecksing

4 InterPro domains/families:

IPR005135 Endo/exonuclease/phosphatase

IPR008936 Rho_GTPase_activation_prot

IPR000300 IPPc

IPR000198 RhoGAP_dom

Graphical View of Domain Structure for InterPro Entry P32019

ProtoNet protein and cluster: P32019

2 Blocks protein families:

IPB000198 RhoGAP domain

IPB000300 Inositol polyphosphate related phosphatase family

UniProtKB/Swiss-Prot: I5P2_HUMAN, P32019

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)

Similarity: Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family

Similarity: Contains 1 PH domain

Similarity: Contains 1 Rho-GAP domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: I5P2_HUMAN, P32019

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

Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol

4-phosphate + phosphate

Genatlas biochemistry entry for INPP5B:

inositol 1,4,5-triphosphate 5-phosphatase (75kDa),expressed in megakaryocytes,placenta,signal terminating reaction in

the inositol signaling pathway

Enzyme Numbers (IUBMB): EC 3.1.3.36¹ ² EC 3.1.3²

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for INPP5B

Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IDA	7721860
GO:0005515	protein binding	IPI	--
GO:0046872	metal ion binding	IEA	--
GO:0052658	inositol-1,4,5-trisphosphate 5-phosphatase activity	IDA	7721860

INPP5B for ontologies About GeneDecksing

2 GenomeRNAi human phenotypes for INPP5B:

Decreased cilium length after

Decreased focal adhesion (FA)

Animal Models:
Mouse knock-outs for INPP5B: Inpp5b^tm1Lex Inpp5b^tm1Nbm Inpp5b^tm2.1Nbm
7 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Inpp5b):

endocrine/exocrine gland	growth/size	homeostasis/metabolism	mortality/aging	renal/urinary system
reproductive system	vision/eye

INPP5B for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/6 super-pathways (see all 6) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

D-myo-inositol (1,3,4)-trisphosphate biosynthesis

D-myo-inositol (1,3,4)-trisphosphate biosynthesis	1.00	D-myo-inositol (1,4,5)-trisphosphate degradation	0.40
1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)	0.76	3-phosphoinositide degradation	0.33
superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism	0.75	Synthesis of IP2, IP, and Ins in the cytosol	0.24

Inositol phosphate metabolism

	Inositol phosphate metabolism	1.00			Phosphatidylinositol signaling system	0.59
	superpathway of inositol phosphate compounds	0.59

Metabolism

Metabolism

1.00

Metabolic pathways

0.38

Synthesis of IP3 and IP4 in the cytosol

Synthesis of IP3 and IP4 in the cytosol

1.00

Inositol phosphate metabolism

0.57

Cell death signalling via NRAGE, NRIF and NADE

Rho GTPase cycle

0.25

Signaling by Rho GTPases

0.25

Pathway sources
See GeneCards unified pathways
Show all pathways

5/6 BioSystems Pathways for INPP5B (see all 6)

	1D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
	D-myo-inositol (1,3,4)-trisphosphate biosynthesis
	D-myo-inositol (1,4,5)-trisphosphate degradation
	superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
	3-phosphoinositide degradation

5/7 Reactome Pathways for INPP5B (see all 7)

	Signaling by Rho GTPases
	Synthesis of IP2, IP, and Ins in the cytosol
	Metabolism
	Signal Transduction
	Inositol phosphate metabolism

3 Kegg Pathways (Kegg details for INPP5B):

	Inositol phosphate metabolism
	Metabolic pathways
	Phosphatidylinositol signaling system

INPP5B for pathways About GeneDecksing

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for INPP5B

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/83 Interacting proteins for INPP5B (P32019³ ENSP00000362115⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 83)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
SMURF1	Q9HCE7³, ENSP00000354621⁴	I2D: score=1 STRING: ENSP00000354621
FAM109B	Q6ICB4³	I2D: score=4
NOTCH2	Q04721³	I2D: score=3
INPP1	ENSP00000325423⁴	STRING: ENSP00000325423
INPP4A	ENSP00000074304⁴	STRING: ENSP00000074304

About this table

Gene Ontology (GO): 5/8 biological process terms (GO ID links to tree view) (see all 8): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001701	in utero embryonic development	IEA	--
GO:0007264	small GTPase mediated signal transduction	TAS	--
GO:0007283	spermatogenesis	IEA	--
GO:0030317	sperm motility	IEA	--
GO:0046854	phosphatidylinositol phosphorylation	IEA	--

INPP5B for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for INPP5B

4 HMDB Compounds for INPP5B About this table

Compound	Synonyms	CAS #	PubMed Ids
1-Phosphatidyl-D-myo-inositol	1-Phosphatidyl-1D-myo-inositol (see all 6)	--	--
Calcium	Ca (see all 2)	7440-70-2	--
Phosphate	NFB Orthophosphate (see all 13)	14265-44-2	--
Water	Dihydrogen oxide (see all 2)	7732-18-5	--

1 DrugBank Compound for INPP5B About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
D-Myo-Inositol-1,4-Bisphosphate	--	47055-78-7	target	--	17139284 17016423 10592235

Search CenterWatch for drugs/clinical trials and news about INPP5B / I5P2

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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About This Section

REFSEQ mRNAs for INPP5B gene:

NM_005540.2

Unigene Cluster for INPP5B:

Inositol polyphosphate-5-phosphatase, 75kDa

Hs.449942 [show with all ESTs]

Unigene Representative Sequence: NM_005540

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000373027(uc001ccf.1) ENST00000373026 ENST00000373024 ENST00000487328

ENST00000470364 ENST00000474758 ENST00000467066 ENST00000373021(uc001cch.3)

ENST00000491406 ENST00000373023(uc009vvk.1 uc001ccg.1) ENST00000458109(uc010oij.1)

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Additional cDNA sequence:

AK022846.1 AK093261.1 AK295062.1 AK310824.1 BC042529.2 BC058932.1 BC062317.1 M74161.1

12 DOTS entries:

DT.209060 DT.412855 DT.101964233 DT.97841601 DT.100650948 DT.121337859 DT.95203290 DT.100817069

DT.91660584 DT.121337863 DT.92035289 DT.99950670

24/104 AceView cDNA sequences (see all 104):

BM726587 BU428554 T26890 BQ435075 AL602688 BU520778 AA022685 BM690094

NM_005540 AL601114 AU131370 CD101749 BX328166 AA768391 BM458542 BU527985

AA759300 BX479902 BC042529 AI658682 BC058932 BM465103 BM049448 AA768217

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

INPP5B expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image
See INPP5B Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for INPP5B

SOURCE GeneReport for Unigene cluster: Hs.449942

UniProtKB/Swiss-Prot: I5P2_HUMAN, P32019

Tissue specificity: Platelets

SABiosciences Custom PCR Arrays for INPP5B

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In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of eukaryotes.

Orthologs for INPP5B gene from 7/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	INPP5B¹	inositol polyphosphate-5-phosphatase, 75kDa	71.06(n) 70.43(a)		419609 XM_417756.3 XP_417756.3
lizard (Anolis carolinensis)	Reptilia	INPP5B⁶	--	68(a)	1 ↔ 1	GL343426.1(579879-587195)
zebrafish (Danio rerio)	Actinopterygii	LOC563543¹	type II inositol-1,4,5-trisphosphate 5-phosphatase-like	65.71(n) 66.67(a)		563543 XM_686908.3 XP_692000.3
fruit fly (Drosophila melanogaster)	Insecta	Ocrl⁶	Oculocerebrorenal syndrome of Lowe 1 ortholog	30(a)	1 → many	X(1817014-1821557)
worm (Caenorhabditis elegans)	Secernentea	ocrl-1¹	Protein OCRL-1	43.56(n) 32.6(a)		172822 NM_001128948.1 NP_001122420.1
thale cress (Arabidopsis thaliana)	eudicotyledons	AT2G01900⁶ AT5G04980⁶ (see all 10)	endonuclease/exonuclease/phosphatase domain-contai... endonuclease/exonuclease/phosphatase domain-contai... (see all 10)	27(a) 26(a) (see all 10)	possible ortholog possible ortholog (see all 10)	2(405918-409014) 5(1468575-1470772)
rice (Oryza sativa)	Liliopsida	-- -- (see all 15)	endonuclease/exonuclease/phosphatase family domain... endonuclease/exonuclease/phosphatase family domain... (see all 15)	29(a) 27(a) (see all 15)	possible ortholog possible ortholog (see all 15)	9(13687244-13689948) 8(20447312-20449557)

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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for INPP5B gene

INPP5J² SYNJ1² INPP5D² OCRL² INPP5K² INPP5E² INPPL1² SYNJ2²

1 SIMAP similar gene for INPP5B using alignment to 3 protein entries: I5P2_HUMAN (see all proteins):

OCRL

INPP5B for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs35911212^1,2	C	--	36507031(+)	`TTTTT-/TGAGAT`	1	--	int¹		2		NA CSA	4
rs148899702^1,2		--	38325999(+)	`CCCGCA/GTCTTA`	2	--	ds500¹ us2k¹		0	--	--	--	--
rs61778086^1,2	C,F,	--	38326111(+)	`TGTTAG/AATCCT`	2	--	ds500¹ us2k¹		3		NA	124
rs9660548^1,2	C,F,	--	38326237(+)	`CTTGCT/AGGAAG`	2	--	ds500¹ us2k¹		8		NA EA	388
rs147561762^1,2		--	38326240(+)	`GCTGGA/CAGTAT`	2	--	us2k¹ ds500¹		0	--	--	--	--
rs182036326^1,2		--	38326336(+)	`ACTGCC/TATCTC`	2	--	ds500¹ us2k¹		0	--	--	--	--
rs1059819^1,2	C	--	38326455(-)	`ATTTTC/TTGGGC`	2	--	us2k¹ ut3¹ ese³		2		MN NA	186
rs1136994^1,2	C,F,	--	38326547(-)	`TGTACG/ACCAGC`	2	--	us2k¹ ut3¹		6		MN NA	312
rs1136990^1,2	C,F,	--	38326654(-)	`CTGGGC/TGTGGT`	2	--	us2k¹ ut3¹		11		NA CSA WA EA	372
rs186636440^1,2		--	38326741(+)	`AGTGAA/TGCTCC`	2	--	ut3¹ us2k¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for INPP5B (38326369 - 38412729 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for INPP5B: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing INPP5B

DNA2.0 Custom Variant and Variant Library Synthesis for INPP5B

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

INPP5B for disorders           About GeneDecksing

OMIM gene information: 147264    OMIM disorders: --

1 disease for INPP5B:    About MalaCards

oculocerebrorenal syndrome

1 disease from the University of Copenhagen DISEASES database for INPP5B:

Oculocerebrorenal syndrome

Human Genome Epidemiology (HuGE) Navigator: INPP5B (1 document)

Export disorders for INPP5B gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for INPP5B gene, integrated from 9 sources (see all 32):
(articles sorted by number of sources associating them with INPP5B)

Utopia: connect your pdf to the dynamic
world of online information

Cloning and expression of human 75-kDa inositol polyphosphate-5- phosphatase. (PubMed id 1718960)^{1, 2, 3} Ross T.S.... Majerus P.W. (1991)
Targeting of the type II inositol polyphosphate 5-phosphatase INPP5B to the early secretory pathway. (PubMed id 17956944)^{1, 2} Williams C....Lowe M. (2007)
The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)^{1, 2} Gregory S.G.... Bentley D.R. (2006)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Properties of type II inositol polyphosphate 5-phosphatase. (PubMed id 7721860)^{1, 2} Jefferson A.B. and Majerus P.W. (1995)
Mapping of the 75-kDa inositol polyphosphate-5-phosphatase (Inpp5b) to distal mouse chromosome 4 and its exclusion as a candidate gene for dysgenetic lens. (PubMed id 8530037)^{1, 9} Janne P.A....Nussbaum R.L. (1995)
Lowe syndrome patient fibroblasts display Ocrl1-speci fic cell migration defects that cannot be rescued by the homologous Inpp5b phos phatase. (PubMed id 19700499)^{1, 9} Coon B.G....Aguilar R.C. (2009)
Localization of the 75-kDa inositol polyphosphate-5-phosphatase (INPP5B) to human chromosome band 1p34. (PubMed id 8125013)^{1, 9} Janne P.A....Nussbaum R.L. (1994)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 3633	HGNC: 6077	AceView: INPP5B	Ensembl:ENSG00000204084	euGenes: HUgn3633
ECgene: INPP5B	Kegg: 3633	H-InvDB: INPP5B

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for INPP5B	Pharmacogenomics, SNPs, Pathways

Intellectual Property for INPP5B gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for INPP5B gene:
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GeneCards and IP:
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INPP5B Gene

inositol polyphosphate-5-phosphatase, 75kDa

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INPP5B Gene

inositol polyphosphate-5-phosphatase, 75kDa

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