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Gene: OCRL (OCRL inositol polyphosphate-5-phosphatase) Homo sapiens
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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
Orthologs:
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
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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)
Model


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

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on OCRL
Alliance Gene
NCBI 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



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