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 sy... See more...

Aliases for OCRL Gene

Aliases for OCRL Gene

  • OCRL Inositol Polyphosphate-5-Phosphatase 2 3 5
  • Phosphatidylinositol 3,4,5-Triphosphate 5-Phosphatase 3 4
  • Inositol Polyphosphate 5-Phosphatase OCRL-1 3 4
  • Inositol Polyphosphate 5-Phosphatase OCRL 3 4
  • Lowe Oculocerebrorenal Syndrome Protein 3 4
  • Oculocerebrorenal Syndrome Of Lowe 2 3
  • OCRL-1 3 4
  • OCRL1 3 4
  • Phosphatidylinositol Polyphosphate 5-Phosphatase 3
  • Dent Disease 2 2
  • EC 3.1.3.36 4
  • EC 3.1.3.56 4
  • EC 3.1.3.86 4
  • Dent-2 3
  • INPP5F 3
  • NPHL2 3
  • LOCR 3

External Ids for OCRL Gene

Previous GeneCards Identifiers for OCRL Gene

  • GC0XP123319
  • GC0XP125520
  • GC0XP126619
  • GC0XP127379
  • GC0XP128399
  • GC0XP128501
  • GC0XP128673
  • GC0XP118081

Summaries for OCRL Gene

Entrez Gene Summary for OCRL Gene

  • 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]

GeneCards Summary for OCRL Gene

OCRL (OCRL Inositol Polyphosphate-5-Phosphatase) is a Protein Coding gene. Diseases associated with OCRL include Lowe Oculocerebrorenal Syndrome and Dent Disease 2. Among its related pathways are Clathrin derived vesicle budding and superpathway of inositol phosphate compounds. Gene Ontology (GO) annotations related to this gene include GTPase activator activity and phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity. An important paralog of this gene is INPP5B.

UniProtKB/Swiss-Prot Summary for OCRL Gene

  • Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:7761412, PubMed:15474001, PubMed:9430698, PubMed:10764818). Able also to hydrolyzes the 4-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate (PubMed:7761412, PubMed:25869668). Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes (PubMed:21971085). Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976). Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling (PubMed:22072788).

Gene Wiki entry for OCRL Gene

Additional gene information for OCRL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for OCRL Gene

Genomics for OCRL Gene

GeneHancer (GH) Regulatory Elements for OCRL Gene

Promoters and enhancers for OCRL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ129539 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE CraniofacialAtlas 500.4 +8.0 7973 2.2 CTCF ZSCAN5C TCF12 POLR2G PHF8 ZFX POLR2A ZBTB26 ZNF740 CHD1 OCRL piR-32285-102
GH0XJ129532 Promoter 0.3 EPDnew 500.7 0.0 -39 0.1 OCRL SMARCA1
GH0XJ130113 Enhancer 0.9 Ensembl ENCODE dbSUPER 11.5 +582.1 582061 2.4 BCOR FOS NR2F1 RARA ZEB2 MITF ZFP69B ZNF571 ZNF366 ESRRA ZNF280C OCRL SMARCA1 RBMX2 AIFM1 ELF4 RF00017-8708 RF00017-8703
GH0XJ130183 Enhancer 0.8 Ensembl ENCODE 12 +651.1 651060 2.4 CREB1 CBFB ZNF384 NR2C1 SMARCA5 TBX21 MEIS2 ATF2 PBX3 ZNF214 SMARCA1 OCRL ZNF280C RF00017-8709 RAB33A RF00017-8703
GH0XJ129789 Enhancer 0.4 dbSUPER 12.4 +258.3 258315 3.2 ZNF112 SCRT1 CTCF SCRT2 POLR2A KY994060 SMARCA1 XPNPEP2 ZDHHC9 OCRL UTP14A APLN ENSG00000240143 SASH3
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around OCRL on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for OCRL

Top Transcription factor binding sites by QIAGEN in the OCRL gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA

Genomic Locations for OCRL Gene

Genomic Locations for OCRL Gene
chrX:129,532,740-129,592,561
(GRCh38/hg38)
Size:
59,822 bases
Orientation:
Plus strand
chrX:128,673,826-128,726,538
(GRCh37/hg19)
Size:
52,713 bases
Orientation:
Plus strand

Genomic View for OCRL Gene

Genes around OCRL on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
OCRL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for OCRL Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for OCRL Gene

Proteins for OCRL Gene

  • Protein details for OCRL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01968-OCRL_HUMAN
    Recommended name:
    Inositol polyphosphate 5-phosphatase OCRL
    Protein Accession:
    Q01968
    Secondary Accessions:
    • A6NKI1
    • A8KAP2
    • B7ZLX2
    • O60800
    • Q15684
    • Q15774
    • Q4VY09
    • Q4VY10
    • Q5JQF1
    • Q5JQF2
    • Q9UJG5
    • Q9UMA5

    Protein attributes for OCRL Gene

    Size:
    901 amino acids
    Molecular mass:
    104205 Da
    Quaternary structure:
    • Interacts with APPL1, FAM109A/SES1 and FAM109B/SES2; APPL1-binding and FAM109A-binding are mutually exclusive. Interacts with clathrin heavy chain. Interacts with several Rab GTPases, at least RAB1B, RAB5A, RAB6A, RAB8A and RAB31; these interactions may play a dual role in targeting OCRL to the specific membranes and stimulating the phosphatase activity. Interaction with RAB8A modulates OCRL recruitment to cilia. Interacts with INPP5F (PubMed:25869668).
    SequenceCaution:
    • Sequence=AAA59964.2; Type=Erroneous initiation; Note=Extended N-terminus.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for OCRL Gene

    Alternative splice isoforms for OCRL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for OCRL Gene

Post-translational modifications for OCRL Gene

  • Ubiquitination at Lys127, Lys449, Lys461, and Lys578
  • Modification sites at PhosphoSitePlus

Other Protein References for OCRL Gene

No data available for DME Specific Peptides for OCRL Gene

Domains & Families for OCRL Gene

Gene Families for OCRL Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for OCRL Gene

Blocks:
  • RhoGAP domain
  • Inositol polyphosphate related phosphatase family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for OCRL Gene

GenScript: Design optimal peptide antigens:
  • Oculocerebrorenal syndrome of Lowe (B7ZLX2_HUMAN)
  • Lowe oculocerebrorenal syndrome protein (OCRL_HUMAN)
  • OCRL-1 protein (Q16028_HUMAN)
  • Oculocerebrorenal syndrome of Lowe (Q504W7_HUMAN)
  • OCRL protein (Q6PJ10_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01968

UniProtKB/Swiss-Prot:

OCRL_HUMAN :
  • 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.
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
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.
Family:
  • Belongs to the inositol 1,4,5-trisphosphate 5-phosphatase type II family.
genes like me logo Genes that share domains with OCRL: view

Function for OCRL Gene

Molecular function for OCRL Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the hydrolysis of the 4-position phosphate of phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) and phosphatidylinositol-3,4,5-bisphosphate (PtdIns(3,4,5)P3), with the greatest catalytic activity towards PtdIns(4,5)P2 (PubMed:7761412, PubMed:15474001, PubMed:9430698, PubMed:10764818). Able also to hydrolyzes the 4-phosphate of inositol 1,4,5-trisphosphate and of inositol 1,3,4,5-tetrakisphosphate (PubMed:7761412, PubMed:25869668). Regulates traffic in the endosomal pathway by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is associated with endosomes (PubMed:21971085). Involved in primary cilia assembly (PubMed:22228094, PubMed:22543976). Acts as a regulator of phagocytosis, hydrolyzing PtdIns(4,5)P2 to promote phagosome closure, through attenuation of PI3K signaling (PubMed:22072788).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate; Xref=Rhea:RHEA:22764, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58178, ChEBI:CHEBI:58456; EC=3.1.3.36; Evidence={ECO:0000269 PubMed:10764818, ECO:0000269 PubMed:15474001, ECO:0000269 PubMed:7761412, ECO:0000269 PubMed:9430698}; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:22765; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + phosphate; Xref=Rhea:RHEA:25528, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57658, ChEBI:CHEBI:57836; EC=3.1.3.86; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:25529; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,3,4,5-tetrakisphosphate + H2O = 1D-myo-inositol 1,3,4-trisphosphate + phosphate; Xref=Rhea:RHEA:11392, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:57895, ChEBI:CHEBI:58414; EC=3.1.3.56; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11393; Evidence=. ;.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate; Xref=Rhea:RHEA:19797, ChEBI:CHEBI:15377, ChEBI:CHEBI:43474, ChEBI:CHEBI:58282, ChEBI:CHEBI:203600; EC=3.1.3.56; Evidence=. ; PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:19798; Evidence=. ;.
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=30 uM for Ins(1,3,4,5)P4 {ECO:0000269 PubMed:7761412}; KM=139 uM for PtdIns(3,4,5)P3 {ECO:0000269 PubMed:15474001}; KM=23 uM for PtdIns(4,5)P2 {ECO:0000269 PubMed:15474001}; KM=70 uM for Ins(1,4,5)P3 {ECO:0000269 PubMed:7761412}; Vmax=1.8 umol/min/mg enzyme with Ins(1,3,4,5)P4 as substrate {ECO:0000269 PubMed:7761412}; Vmax=8 umol/min/mg enzyme with Ins(1,4,5)P3 as substrate {ECO:0000269 PubMed:7761412};

Enzyme Numbers (IUBMB) for OCRL Gene

Phenotypes From GWAS Catalog for OCRL Gene

Gene Ontology (GO) - Molecular Function for OCRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004439 phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity TAS --
GO:0004445 inositol-polyphosphate 5-phosphatase activity IEA --
GO:0005096 GTPase activator activity IDA 12915445
GO:0005515 protein binding IPI 12915445
GO:0016787 hydrolase activity IEA --
genes like me logo Genes that share ontologies with OCRL: view
genes like me logo Genes that share phenotypes with OCRL: view

Human Phenotype Ontology for OCRL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for OCRL Gene

MGI Knock Outs for OCRL:

Animal Model Products

CRISPR Products

miRNA for OCRL Gene

miRTarBase miRNAs that target OCRL

Clone Products

  • Addgene plasmids for OCRL

No data available for Transcription Factor Targets and HOMER Transcription for OCRL Gene

Localization for OCRL Gene

Subcellular locations from UniProtKB/Swiss-Prot for OCRL Gene

Cytoplasmic vesicle, phagosome membrane. Early endosome membrane. Membrane, clathrin-coated pit. Cell projection, cilium, photoreceptor outer segment. Cell projection, cilium. Cytoplasmic vesicle. Endosome. Golgi apparatus, trans-Golgi network. Lysosome. Note=Also found on macropinosomes (PubMed:25869668). Colocalized with APPL1 on phagosomes (PubMed:22072788). {ECO:0000269 PubMed:22072788, ECO:0000269 PubMed:25869668}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for OCRL gene
Compartment Confidence
plasma membrane 5
nucleus 5
endosome 5
cytosol 5
golgi apparatus 5
lysosome 4
cytoskeleton 3
mitochondrion 2
extracellular 1
peroxisome 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Centriolar satellite (2)
  • Cytosol (2)
  • Microtubules (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for OCRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA,IDA 22543976
GO:0005634 nucleus IDA 12915445
GO:0005737 cytoplasm IDA 12915445
GO:0005764 lysosome IEA --
GO:0005768 endosome IEA --
genes like me logo Genes that share ontologies with OCRL: view

Pathways & Interactions for OCRL Gene

genes like me logo Genes that share pathways with OCRL: view

Gene Ontology (GO) - Biological Process for OCRL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001701 in utero embryonic development IEA --
GO:0006629 lipid metabolic process NAS,TAS 1321346
GO:0006661 phosphatidylinositol biosynthetic process TAS --
GO:0007165 signal transduction IEA --
GO:0030030 cell projection organization IEA --
genes like me logo Genes that share ontologies with OCRL: view

No data available for SIGNOR curated interactions for OCRL Gene

Drugs & Compounds for OCRL Gene

(7) Drugs for OCRL Gene - From: PharmGKB, ClinicalTrials, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Water Approved Pharma 0
Tenofovir Experimental, Investigational Pharma HIV reverse transcriptase inhibitor 973
Hemostatics Pharma 1907

(8) Additional Compounds for OCRL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Phosphatidyl-D-myo-inositol
  • (3-Phosphatidyl)-1-D-inositol
  • 1,2-Diacyl-sn-glycero-3-phosphoinositol
  • 1-Phosphatidyl-1D-myo-inositol
  • 1-Phosphatidyl-myo-inositol
  • Phosphatidyl-1D-myo-inositol
Carbonic acid
  • [co(OH)2]
  • Dihydrogen carbonate
  • H2CO3
  • Koehlensaeure
  • Carbonate
71-52-3, 463-79-6
Phosphate
  • [po(OH)3]
  • Acide phosphorique
  • Acidum phosphoricum
  • H3PO4
  • Orthophosphoric acid
14066-19-4, 14265-44-2
genes like me logo Genes that share compounds with OCRL: view

Transcripts for OCRL Gene

mRNA/cDNA for OCRL Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for OCRL

Alternative Splicing Database (ASD) splice patterns (SP) for OCRL Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14a · 14b ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^
SP1: - -
SP2: - - -
SP3: - - -
SP4: - -
SP5:

ExUns: 24 ^ 25 ^ 26a · 26b
SP1:
SP2:
SP3:
SP4:
SP5:

Relevant External Links for OCRL Gene

GeneLoc Exon Structure for
OCRL

Expression for OCRL Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for OCRL Gene

Protein differential expression in normal tissues from HIPED for OCRL Gene

This gene is overexpressed in Pancreatic juice (22.4) and Testis (15.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for OCRL Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for OCRL

SOURCE GeneReport for Unigene cluster for OCRL Gene:

Hs.126357

mRNA Expression by UniProt/SwissProt for OCRL Gene:

Q01968-OCRL_HUMAN
Tissue specificity: Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts. Expressed in the retina and the retinal pigment epithelium.

Evidence on tissue expression from TISSUES for OCRL Gene

  • Nervous system(4.7)
  • Kidney(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for OCRL Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • outer ear
  • parathyroid
  • skull
  • thyroid
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • placenta
  • rectum
  • testicle
  • ureter
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with OCRL: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and Protein tissue co-expression partners for OCRL Gene

Orthologs for OCRL Gene

This gene was present in the common ancestor of animals.

Orthologs for OCRL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia OCRL 31 30
  • 99.36 (n)
OneToOne
cow
(Bos Taurus)
Mammalia OCRL 31 30
  • 92.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia OCRL 31 30
  • 92.07 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ocrl 30
  • 90.43 (n)
mouse
(Mus musculus)
Mammalia Ocrl 17 31 30
  • 88.78 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia OCRL 31
  • 86 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 78 (a)
OneToMany
-- 31
  • 75 (a)
OneToMany
chicken
(Gallus gallus)
Aves OCRL 31 30
  • 74.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia OCRL 31
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ocrl 30
  • 70.74 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.5376 30
zebrafish
(Danio rerio)
Actinopterygii LOC100329312 30
  • 64.33 (n)
ocrl 31 31
  • 59 (a)
OneToMany
Dr.15136 30
fruit fly
(Drosophila melanogaster)
Insecta Ocrl 31 30
  • 48.12 (n)
OneToMany
EG:86E4.5 32
  • 33 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP010556 30
  • 47.24 (n)
worm
(Caenorhabditis elegans)
Secernentea ocrl-1 31
  • 30 (a)
OneToMany
C16C2.3 32
  • 30 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 48 (a)
ManyToMany
-- 31
  • 40 (a)
ManyToMany
Species where no ortholog for OCRL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for OCRL Gene

ENSEMBL:
Gene Tree for OCRL (if available)
TreeFam:
Gene Tree for OCRL (if available)
Aminode:
Evolutionary constrained regions (ECRs) for OCRL: view image

Paralogs for OCRL Gene

(1) SIMAP similar genes for OCRL Gene using alignment to 3 proteins:

  • OCRL_HUMAN
  • Q504W7_HUMAN
  • Q6PJ10_HUMAN
genes like me logo Genes that share paralogs with OCRL: view

Variants for OCRL Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for OCRL Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
638866 Pathogenic: Lowe syndrome 129,558,952(+) CAT/C FRAMESHIFT_VARIANT
641377 Pathogenic: Lowe syndrome; Dent disease 2 129,589,008(+) C/T NONSENSE
642337 Likely Pathogenic: Lowe syndrome 129,564,122(+) GCTCACCATCACTGGC SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR_VARIANT
647197 Uncertain Significance: Lowe syndrome 129,567,267(+) G/C MISSENSE_VARIANT
650887 Pathogenic: Lowe syndrome 129,567,336(+) ACT/A NONSENSE

Additional dbSNP identifiers (rs#s) for OCRL Gene

Structural Variations from Database of Genomic Variants (DGV) for OCRL Gene

Variant ID Type Subtype PubMed ID
esv2758893 CNV gain+loss 17122850
nsv508800 CNV insertion 20534489
nsv7086 CNV insertion 18451855

Variation tolerance for OCRL Gene

Residual Variation Intolerance Score: 10.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.52; 29.51% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for OCRL Gene

Human Gene Mutation Database (HGMD)
OCRL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
OCRL

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for OCRL Gene

Disorders for OCRL Gene

MalaCards: The human disease database

(23) MalaCards diseases for OCRL Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lowe oculocerebrorenal syndrome
  • ocrl
dent disease 2
  • dent disease type 2
dent disease 1
  • nephrolithiasis, hypercalciuric, x-linked
renal tubular acidosis
  • acidosis renal tubular
fanconi syndrome
  • fanconi renotubular syndrome
- elite association - COSMIC cancer census association via MalaCards
Search OCRL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

OCRL_HUMAN
  • Lowe oculocerebrorenal syndrome (OCRL) [MIM:309000]: X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination. {ECO:0000269 PubMed:10767176, ECO:0000269 PubMed:10923037, ECO:0000269 PubMed:19168822, ECO:0000269 PubMed:20133602, ECO:0000269 PubMed:21031565, ECO:0000269 PubMed:21233288, ECO:0000269 PubMed:9199559, ECO:0000269 PubMed:9632163, ECO:0000269 PubMed:9682219, ECO:0000269 PubMed:9788721}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Dent disease 2 (DD2) [MIM:300555]: A renal disease belonging to the 'Dent disease complex', a group of disorders characterized by proximal renal tubular defect, hypercalciuria, nephrocalcinosis, and renal insufficiency. The spectrum of phenotypic features is remarkably similar in the various disorders, except for differences in the severity of bone deformities and renal impairment. Characteristic abnormalities include low-molecular-weight proteinuria and other features of Fanconi syndrome, such as glycosuria, aminoaciduria, and phosphaturia, but typically do not include proximal renal tubular acidosis. Progressive renal failure is common, as are nephrocalcinosis and kidney stones. {ECO:0000269 PubMed:15627218, ECO:0000269 PubMed:17384968, ECO:0000269 PubMed:21031565}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for OCRL

genes like me logo Genes that share disorders with OCRL: view

No data available for Genatlas for OCRL Gene

Publications for OCRL Gene

  1. OCRL1 mutations in patients with Dent disease phenotype in Japan. (PMID: 17384968) Sekine T … Igarashi T (Pediatric nephrology (Berlin, Germany) 2007) 3 4 23 54
  2. Dent Disease with mutations in OCRL1. (PMID: 15627218) Hoopes RR … Scheinman SJ (American journal of human genetics 2005) 3 4 23 54
  3. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. (PMID: 10923037) Monnier N … Lunardi J (Human mutation 2000) 3 4 23 54
  4. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. (PMID: 10767176) Röschinger W … Kammerer S (Molecular genetics and metabolism 2000) 3 4 23 54
  5. Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. (PMID: 9682219) Lin T … Nussbaum RL (Molecular genetics and metabolism 1998) 3 4 23 54

Products for OCRL Gene

Sources for OCRL Gene