INPP5B - inositol polyphosphate-5-phosphatase B Gene

Homo sapiens

Also known as 5PTase

Gene ID: 3633 | Gene type: protein coding

About INPP5B

Cytogenetic location: 1p34.3 Genomic coordinates (GRCh38): 1:37,860,697-37,947,057 (from NCBI)

This gene has 11 transcripts (splice variants), 207 orthologues and 13 paralogues. Ubiquitous expression in lymph node (RPKM 6.6), ovary (RPKM 6.5) and 25 other tissues.

Summary

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]

INPP5B Products(10)

mRNA	Protein	Name
NM_001297434.2	NP_001284363.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 2 precursor
NM_001350227.2	NP_001337156.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 3
NM_001350228.1	NP_001337157.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 3
NM_001365820.1	NP_001352749.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 1 precursor
NM_001365821.1	NP_001352750.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 4 precursor
NM_001365822.1	NP_001352751.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 5
NM_001365823.1	NP_001352752.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 6
NM_001365824.1	NP_001352753.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 6
NM_001365825.1	NP_001352754.1	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 7
NM_005540.3	NP_005531.2	type II inositol 1,4,5-trisphosphate 5-phosphatase isoform 1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables inositol-1,4,5-trisphosphate 5-phosphatase activity	IDA IDA: Inferred from direct assay	7721860	GOA
enables phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	IDA IDA: Inferred from direct assay	7721860	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	21233288	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in phosphatidylinositol dephosphorylation	IDA IDA: Inferred from direct assay	7721860	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	7721860	GOA
located in membrane	IDA IDA: Inferred from direct assay	7721860	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

INPP5B Protein Structure

Exo_endo_phos

RhoGAP

0
200
400
600
800
993 a.a.

Protein Preferred Names

Protein Names

type II inositol 1,4,5-trisphosphate 5-phosphatase

inositol polyphosphate-5-phosphatase, 75kDa

Related Diseases

Diseases

Alias

Dent Disease 2

Dent Disease Type 2	DENT2
Dent Disease, Type 2

Lowe Oculocerebrorenal Syndrome

Lowe Syndrome	Oculocerebrorenal Syndrome
OCRL	Oculocerebrorenal Syndrome Of Lowe
Ocrl1	Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency
Lowe Disease	Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency
Cerebrooculorenal Syndrome	Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency
Lowe Oculo-Cerebro-Renal Dystrophy	Lowe Oculo-Cerebro-Renal Syndrome
Lowe Oculocerebrorenal Dystrophy	Low
Chromosome 11p Deletion Syndrome	Oculocerebrorenal Dystrophy
Cerebro-Oculorenal Dystrophy	Ocrl1 - [Oculocerebrorenal Syndrome]
Lowe-Terrey-Maclachlan Syndrome	Renal-Oculocerebrodystrophy

Dent Disease 1

Dent Disease	Dent'S Disease
Dent Disease 2	Dent Disease Type 1
DENT1	Urolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis 2	Nphl2
Dent Syndrome	Dents Disease
Low-Molecular-Weight Proteinuria With Hypercalciuria And Nephrocalcinosis	Renal Fanconi Syndrome With Nephrocalcinosis And Renal Stones
X-Linked Recessive Hypercalciuric Hypophosphatemic Rickets	X-Linked Recessive Nephrolithiasis
Fanconi Syndrome, Renal, With Nephrocalcinosis And Renal Stones	Nephrolithiasis, Hypercalciuric, X-Linked
Nephrolithiasis-Hypercalciuria X-Linked Recessive	Nephrolithiasis, X-Linked Recessive
Dent Disease, Type 1

Charcot-Marie-Tooth Disease, Type 4j

Charcot-Marie-Tooth Disease Type 4j	CMT4J
Charcot-Marie-Tooth Disease, Autosomal Recessive, Type 4j	Autosomal Recessive Charcot-Marie-Tooth Disease Type 4j
Charcot-Marie-Tooth Disease 4j

Amyotrophic Lateral Sclerosis 11

Amyotrophic Lateral Sclerosis Type 11	ALS11
Sclerosis, Lateral, Amyotrophic, Type Type 11

Yunis-Varon Syndrome

Cleidocranial Dysplasia With Micrognathia, Absent Thumbs, And Distal Aphalangia	Yunis Varon Syndrome
YVS	Cleidocranial Dysplasia-Micrognathia-Absent Thumbs Syndrome
Cleidocranial Dysplasia, Micrognathia, Absent Thumbs, & Distal Aphalangia	Yunis-Varón Syndrome

Joubert Syndrome 1

Joubert Syndrome	Jbts
Cerebellooculorenal Syndrome 1	JBTS1
Joubert-Boltshauser Syndrome	Cerebelloparenchymal Disorder Iv
Cpd4	Cors1
Joubert Syndrome And Related Disorders	Jsrd
Familial Aplasia Of The Vermis	Joubert Syndrome Related Disorders
Js	Cerebellar Vermis Agenesis
Cerebelloparenchymal Disorder 4	Agenesis Of Cerebellar Vermis
Cerebello-Oculo-Renal Syndrome	Cors
Joubert-Bolthauser Syndrome	Cpd Iv
Classic Joubert Syndrome	Joubert Syndrome Type A
Pure Joubert Syndrome	Cerebello-Oculo-Renal Syndrome 1
Joubert Syndrome-1	Joubert Syndrome, Type 1
Joubert'S Syndrome

Charcot-Marie-Tooth Disease, Axonal, Type 2e

Charcot-Marie-Tooth Disease Type 2	CMT2E
CMT2S	CMT2Y
Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Disease Type 2y
Charcot-Marie-Tooth Disease Axonal Type 2s	Charcot-Marie-Tooth Disease, Axonal, Type 2s
Charcot-Marie-Tooth Disease, Type 2e	Hereditary Motor And Sensory Neuropathy Type 2
Charcot-Marie-Tooth Neuropathy, Type 2s	Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s
Charcot-Marie-Tooth Disease, Axonal, Type 2y	Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y
Charcot-Marie-Tooth Neuropathy, Type 2y	Charcot-Marie-Tooth Disease, Type 2y
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e	Charcot-Marie-Tooth Neuropathy Type 2e
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation	Cmt2 Due To Vcp Mutation
Charcot-Marie-Tooth Disease Type 2s	Autosomal Dominant Charcot-Marie-Tooth Disease Type 2
Autosomal Dominant Axonal Charcot-Marie-Tooth Disease	Cmt2
Charcot-Marie-Tooth Neuropathy, Type 2e	Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type
Hereditary Motor And Sensory Neuropathy Okinawa Type	Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y
Charcot-Marie-Tooth Neuropathy Type 2y	Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s
Charcot-Marie-Tooth Neuropathy Type 2s	Charcot-Marie-Tooth Type 2
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y	Charcot-Marie-Tooth Disease 2e
Charcot-Marie-Tooth Disease Axonal Type 2e	Charcot-Marie-Tooth Disease Neuronal Type 2e
Charcot-Marie-Tooth Disease 2s	Charcot-Marie-Tooth Neuropathy Axonal Type 2s
Charcot-Marie-Tooth Disease 2y	Charcot-Marie-Tooth Disease, Type 2
Hereditary Motor And Sensory-Neuropathy Type Ii

Charcot-Marie-Tooth Disease, Type 4b3

Charcot-Marie-Tooth Disease Type 4b3	CMT4B3
Charcot-Marie-Tooth Disease With Focally Folded Myelin	Charcot-Marie-Tooth Disease 4b3
Charcot-Marie-Tooth Neuropathy Type 4b3

Fanconi Syndrome

Infantile Nephropathic Cystinosis	Adult Fanconi Syndrome
Congenital Fanconi Syndrome	De Toni-Fanconi Syndrome
Fanconi-De Toni Syndrome	Lignac-Fanconi Syndrome
Fanconi Renotubular Syndrome	Primary Fanconi Renotubular Syndrome
De Toni-Debre-Fanconi Syndrome	Adult Fanconi Anemia
Detoni Fanconi Syndrome	Fanconi-De-Toni Syndrome
Primary Fanconi Syndrome	Detoni-Debre-Fanconi Syndrome
Primary Fanconi Renal Syndrome	Fanconi Anemia
Cystinosis, Infantile Nephropathic	Fanconi-Bickel Syndrome
Renal Fanconi Syndrome	Lowe-Bickel Syndrome

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (2)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS06828	INPP5B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown
HY-120354	YU142670		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	INPP5B	RGD	RGD:1311511
Canis familiaris	INPP5B	VGNC	VGNC:42031
Bos taurus	INPP5B	VGNC	VGNC:30211
Macaca mulatta	INPP5B	VGNC	VGNC:73750
Felis catus	INPP5B	VGNC	VGNC:67808
Mus musculus	INPP5B	MGD	MGI:103257

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