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Gene: OCRL (OCRL inositol polyphosphate-5-phosphatase) Homo sapiens
Symbol: OCRL
Name: OCRL inositol polyphosphate-5-phosphatase
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: Dent-2; inositol polyphosphate 5-phosphatase OCRL; inositol polyphosphate 5-phosphatase OCRL-1; INPP5F; LOCR; Lowe oculocerebrorenal syndrome protein; NPHL2; OCRL, inositol polyphosphate-5-phosphatase; OCRL-1; OCRL1; oculocerebrorenal syndrome of Lowe; phosphatidylinositol 3,4,5-triphosphate 5-phosphatase; phosphatidylinositol polyphosphate 5-phosphatase
Mus musculus (house mouse) : Ocrl (OCRL, inositol polyphosphate-5-phosphatase)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ocrl (OCRL, inositol polyphosphate-5-phosphatase)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ocrl (OCRL inositol polyphosphate-5-phosphatase)
Pan paniscus (bonobo/pygmy chimpanzee) : OCRL (OCRL inositol polyphosphate-5-phosphatase)
Canis lupus familiaris (dog) : OCRL (OCRL inositol polyphosphate-5-phosphatase)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ocrl (OCRL inositol polyphosphate-5-phosphatase)
Sus scrofa (pig) : OCRL (OCRL inositol polyphosphate-5-phosphatase)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh38X129,532,736 - 129,592,561 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X128,673,826 - 128,726,533 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X128,501,933 - 128,554,214 (+)NCBINCBI36hg18NCBI36
Build 34X128,399,786 - 128,452,063NCBI
CeleraX129,062,951 - 129,113,094 (+)NCBI
Cytogenetic MapXq26.1NCBI
HuRefX118,081,643 - 118,132,141 (+)NCBIHuRef
CHM1_1X128,585,619 - 128,637,903 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on OCRL
Alliance Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 1350136
Created: 2005-03-08
Species: Homo sapiens
Last Modified: 2019-08-06
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.