OCRL - OCRL inositol polyphosphate-5-phosphatase Gene

Homo sapiens

Also known as LOCR; DENT2; NPHL2; OCRL1; Dent-2; INPP5F; OCRL-1

Gene ID: 4952 | Gene type: protein coding

About OCRL

Cytogenetic location: Xq26.1 Genomic coordinates (GRCh38): X:129,540,259-129,592,556 (from NCBI)

This gene has 10 transcripts (splice variants), 223 orthologues, 13 paralogues and is associated with 6 phenotypes. Broad expression in testis (RPKM 21.7), adrenal (RPKM 15.8) and 25 other tissues.

Summary

This gene encodes an inositol polyphosphate 5-phosphatase. This protein is involved in regulating membrane trafficking and is located in numerous subcellular locations including the trans-Golgi network, clathrin-coated vesicles and, endosomes and the plasma membrane. This protein may also play a role in primary cilium formation. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent disease. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

OCRL Products(3)

mRNA	Protein	Name
NM_000276.4	NP_000267.2	inositol polyphosphate 5-phosphatase OCRL isoform a
NM_001318784.2	NP_001305713.1	inositol polyphosphate 5-phosphatase OCRL isoform c
NM_001587.4	NP_001578.2	inositol polyphosphate 5-phosphatase OCRL isoform b

OCRL Protein Structure

Exo_endo_phos

RhoGAP

0
200
400
600
800
901 a.a.

Protein Preferred Names

Protein Names

inositol polyphosphate 5-phosphatase OCRL

Lowe oculocerebrorenal syndrome protein

Related Diseases

Diseases

Alias

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 2

Dent Disease Type 2	DENT2
Dent Disease, Type 2

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

Renal Tubular Acidosis

Acidosis Renal Tubular	Acidosis, Renal Tubular
Lightwood-Albright Syndrome	Lightwood Syndrome
Idiopathic Infantile Hypercalcemia - Mild Form	Kidney Tubular Acidosis
Renal Tubule Acidosis	Kidney Acidosis
Renal Acidosis	Renal Hyperchloremic Acidosis
Rta - [Renal Tubular Acidosis]

Rickets

Vitamin D Deficiency	Vitamin D
Active Rickets	Hypovitaminosis D
Nutritional Rickets	Vitamin D Deficiency Disease
Vitamin-D Deficiency Rickets	Vitamin D-Dependent Rickets
Avitaminosis D	Infantile Osteomalacia
Juvenile Osteomalacia

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

Cataract

Cataracts	Cat - [Cataract]
Cataract Form	Lens Opacity
Lens Opacities

Cataract-Glaucoma

Cataract-Glaucoma Syndrome

Nephrocalcinosis

Hypercalcemic Nephropathy

Lens Disease

Lens Diseases

Ablepharon-Macrostomia Syndrome

Ablepharon Macrostomia Syndrome	AMS
Congenital Ablepharon, Absent Eyelashes/Eyebrows, Macrostomia, Auricular, Nasal, Genital And Other Systemic Anomalies	Eye Abnormalities

Hypophosphatemia

Vitamin D-Resistant Rickets	Hereditary Hypophosphatemic Rickets
Vdrr	Vitamin D Resistant Rickets
Hypophosphatemic Rickets, X-Linked Dominant	Familial Hypophosphatemic Rickets

Donnai-Barrow Syndrome

Faciooculoacousticorenal Syndrome	Dbs/Foar Syndrome
Foar Syndrome	Diaphragmatic Hernia-Exomphalos-Hypertelorism Syndrome
Facio-Oculo-Acoustico-Renal Syndrome	Diaphragmatic Hernia, Exomphalos, Absent Corpus Callosum, Hypertelorism, Myopia, Sensorineural Deafness, And Proteinuria
Diaphragmatic Hernia-Hypertelorism-Myopia-Deafness Syndrome	Holmes-Schepens Syndrome
Syndrome Of Ocular And Facial Anomalies, Telecanthus And Deafness	DBS
Diaphragmatic Hernia Exomphalos Absent Corpus Callosum Hypertelorism Myopia Sensorineural Deafness And Proteinuria	Diaphragmatic Hernia-Exomphalos-Corpus Callosum Agenesis
Diaphragmatic Hernia-Hypertelorism-Myopia-Hearing Loss Syndrome	Syndrome Of Ocular And Facial Anomalies, Telecanthus And Hearing Loss
Donnai Barrow Syndrome

Renal Tubular Transport Disease

Renal Tubular Transport, Inborn Errors

Inborn Renal Tubular Transport Disorder

Aminoaciduria

Bardet-Biedl Syndrome 5

BBS5	Bardet-Biedl Syndrome, Type 5

Hypophosphatemic Rickets, X-Linked Recessive

Hypophosphatemic Rickets	X-Linked Recessive Hypophosphatemic Rickets
XLRHR	Hypophosphatemic Rickets Disorders
Rickets Hypophosphatemic	Rickets, Hypophosphatemic, X-Linked Recessive
Familial Hypophosphatemic Rickets

Legionnaire Disease

Legionnaires' Disease	Legionnaires Disease
Legionnaire Disease, Susceptibility To	Legionella
Legionella Pneumonia	Infection By Legionella Pneumophilia
Legionnaire'S Disease	Legionellosis
Legionaire Disease, Susceptibility To	Legionnaires Pneumonia

Hypophosphatemic Rickets With Hypercalciuria, Hereditary

Hereditary Hypophosphatemic Rickets With Hypercalciuria	HHRH
Hypophosphatemic Rickets With Hypercalciuria	Hypercalciuric Rickets

Legionellosis

Legionella Infection	Pontiac Fever
Legionnaires' Disease	Infection By Legionella Pneumophilia
Legionella Pneumophila Infection

Bardet-Biedl Syndrome

Bbs	Biedl-Bardet Syndrome

Glaucoma 3, Primary Congenital, A

Buphthalmos	Glaucoma, Congenital
Congenital Glaucoma	Glaucoma 3a, Primary Open Angle, Congenital, Juvenile, Or Adult Onset
GLC3A	Glc3
Buphthalmia	Primary Congenital Glaucoma
Glaucoma, Primary Open Angle, Juvenile-Onset	Simple Buphthalmos
Buphthalmus	Glaucoma, Primary Open Angle, Adult-Onset
Primary Congenital Glaucoma 3a	Primary Infantile Glaucoma Type 3a
Glaucoma 3a, Primary Congenital	Glaucoma, Congenital, Primary, Type 3a
Hydrophthalmos	Cystic Eyeball

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

Cystinosis

Cystine Storage Disease	Cystine Diathesis
Cystine Disease	Cystinoses
Protein Defect Of Cystin Transport	Cystin Transport, Protein Defect Of
Nephropathic Cystinosis	Protein Defect Of Cystine Transport

Stereotypic Movement Disorder

Stereotypy Habit Disorder	Stereotyped Repetitive Movements
Stereotyped Disorder	Stereotypes Nos
Stereotype Habit Disorder

Alport Syndrome

Hereditary Nephritis	Alport Syndrome, X-Linked
Hemorrhagic Hereditary Nephritis	Congenital Hereditary Hematuria
Hemorrhagic Familial Nephritis	Familial Nephritis
Thin Basement Membrane Disease	Thin Basement Membrane Nephropathy
Hematuria-Nephropathy-Deafness Syndrome	Hematuric Hereditary Nephritis
Hereditary Familial Congenital Hemorrhagic Nephritis	Hereditary Hematuria Syndrome
Hereditary Interstitial Pyelonephritis	Alport Deafness-Nephropathy
Alport Hearing Loss-Nephropathy	Alports Syndrome
Nephritis, Hereditary

Fundus Dystrophy

Retinal Dystrophy	Retinal Dystrophies
Dystrophy, Retinal

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09746	OCRL Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	OCRL	VGNC	VGNC:44095
Rattus norvegicus	OCRL	RGD	RGD:1594526
Felis catus	OCRL	VGNC	VGNC:68616
Mus musculus	OCRL	MGD	MGI:109589
Macaca mulatta	OCRL	VGNC	VGNC:75577
Bos taurus	OCRL	VGNC	VGNC:32398