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OCRL Gene

protein-coding GIFtS: 59

GC0XP128501

oculocerebrorenal syndrome of Lowe
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases
EC 3.1.3.36 ^³
INPP5F ^², ³
LOCR ^², ⁵
NPHL2 ^², ⁵
OCRL1 ^¹, ², ³, ⁵
OTTHUMP00000024304 ^²

Descriptions
Lowe oculocerebrorenal syndrome protein ^², ³
oculocerebrorenal syndrome of Lowe ^²
phosphatidylinositol polyphosphate 5-phosphatase ^²

External Ids
HGNC: 8108¹
Entrez Gene: 4952²
UniProtKB: Q01968³
Ensembl: ENSG00000122126⁷

Search outside databases for aliases for OCRL gene

Previous GC identifers: GC0XP123319 GC0XP125520 GC0XP126619 GC0XP127379 GC0XP128399

(According to Entrez Gene, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

EntrezGene summary for OCRL:

This gene encodes a phosphatase enzyme that is involved in actin polymerization and is found in the

trans-Golgi network. Mutations in this gene cause oculocerebrorenal syndrome of Lowe and also Dent

disease. [provided by RefSeq]

UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968

Function: Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also

converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol

1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane

trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is

associated with lysosomes

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 36),
and/or miRBase,
Genomic Views according to UCSC and Ensembl, Transcription factor binding sites according to SABiosciences)
About This Section

Genomic View:

UCSC Golden Path with GeneCards custom track

Transcription factor binding sites upstream to the OCRL gene

Entrez Gene cytogenetic band: Xq25-q26.1 Ensembl cytogenetic band: Xq25 HGNC cytogenetic band: Xq25

OCRL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)

GeneLoc gene densities for chromosome X GeneLoc Exon Structure

GeneLoc location for GC0XP128501: (about GC identifiers)

Start:	128,501,933 bp from pter
End:	128,554,214 bp from pter
Size:	52,282 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000023.9 NT_011786.15

(According to ¹UniProtKB, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Enzo Life Sciences, Abnova, OriGene and/or, Abcam,
Biochemical Assays by Invitrogen, Millipore, R&D Systems, Cell Signaling Technology, and/or Enzo Life Sciences, Ontologies according to Gene Ontology Consortium 01 Apr 2009 and Entrez Gene, Antibodies by Invitrogen, Millipore, Sigma-Aldrich, R&D Systems, Cell Signaling Technology, Abcam, Abnova, and/or Novus Biologicals)
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UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968 (See protein sequence)

Recommended Name: Inositol polyphosphate 5-phosphatase OCRL-1

Size: 901 amino acids; 104205 Da

Caution: It is uncertain whether Met-1, Met-18 or Met-20 is the initiator

PDB structures from and Proteopedia :

2QV2 (3D)

Secondary accessions: A6NKI1 O60800 Q15684 Q15774 Q4VY09 Q5JQF1 Q5JQF2 Q9UJG5 Q9UMA5

Alternative splicing: 2 isoforms: Q01968-1 Q01968-2

Post-translational modifications:

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (2 alternative transcripts):

NP_000267.2 NP_001578.2

ENSEMBL proteins:

ENSP00000360154 ENSP00000360155 ENSP00000349635

Human Recombinant Proteins

	Browse Drug Discovery Central at Invitrogen for human recombinant proteins
	Browse Purified and Recombinant Proteins at Millipore
	Browse Human Recombinant Proteins at Sigma-Aldrich
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Recombinant Proteins from Abcam (INPP5F)
	Human Recombinant Proteins from Abnova (OCRL)

Browse Origene for full length recombinant human proteins expressed in human HEK293 cells

3 Gene Ontology (GO) cellular component terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005622	intracellular	IEA	--
GO:0005795	Golgi stack	TAS	1840503
GO:0005798	Golgi-associated vesicle	TAS	1840503

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Antibodies for OCRL:

	Browse Antibodies Central at Invitrogen
	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for OCRL
	Browse R&D Systems for Antibodies
	Antibodies from Abcam (INPP5F), each with their Abpromise^SM
	Monoclonal and Polyclonal Antibodies from Abnova (OCRL)
	Novus Biologicals Antibodies for OCRL

Assays for OCRL:

	Browse Invitrogen for biochemical assays
	Browse Kits and Assays available from Millipore
	Browse R&D Systems for biochemical assays
	Browse biochemical assays available from Enzo Life Sciences

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

Graphical View of Domain Structure for InterPro Entry Q01968

ProtoNet protein and cluster: Q01968

2 Blocks protein families:

IPB000198 RhoGAP domain

IPB000300 Inositol polyphosphate related phosphatase family

UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968

Similarity: Belongs to the inositol-1,4,5-trisphosphate 5-phosphatase type II family

Similarity: Contains 1 Rho-GAP domain

(According to MGI Jun 06 2009, UniProtKB, IUBMB,and/or Genatlas,
shRNA from OriGene, Sigma-Aldrich, RNAi from Sigma-Aldrich,
RNAi Products, Clones, and Q-PCR Products from Invitrogen, Millipore, OriGene, and/or Abnova, siRNAs from Applied Biosystems, SYBR primers from OriGene, Cell-based Assays from Millipore, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (OCRL)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (OCRL)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000276

Applied Biosystems Silencer® siRNAs for OCRL

Sigma-Aldrich siRNA and siRNA Panels for OCRL

Sigma-Aldrich shRNA for OCRL

Explore Sigma-Aldrich super-pooled esiRNAs

Clones:		Invitrogen Clones for OCRL
		Browse Clones for the Expression of Recombinant Proteins Available from Millipore

OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000276
Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000276
untagged cDNA clones in CMV expression vector (see all 2): NM_000276

Primers:

Browse Quantitative PCR Central at Invitrogen for Q-PCR LUX™ Primers

OriGene genome-wide validated SYBR primer pairs: NM_000276

UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968

Function: Converts phosphatidylinositol 4,5-bisphosphate to phosphatidylinositol 4-phosphate. Also

converts inositol 1,4,5-trisphosphate to inositol 1,4-bisphosphate and inositol

1,3,4,5-tetrakisphosphate to inositol 1,3,4-trisphosphate. May function in lysosomal membrane

trafficking by regulating the specific pool of phosphatidylinositol 4,5-bisphosphate that is

associated with lysosomes

Catalytic activity: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O =

1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate

Enzyme Number (IUBMB): EC 3.1.3.36

2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Ocrl):

lethality-prenatal/perinatal

normal

3 Gene Ontology (GO) molecular function terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004437	inositol or phosphatidylinositol phosphatase activity	TAS	1321346
GO:0004439	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	TAS	7761412
GO:0016787	hydrolase activity	IEA	--

About this table

(Pathways according to Invitrogen (maps by GeneGo), Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB,
Sets of similar genes according to GeneDecks, Proteins Network according to SABiosciences, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2009 via Entrez Gene.)
About This Section

1 Sigma-Aldrich "Your Favorite Gene" Pathway for OCRL (Your Favorite Gene powered by Ingenuity)

Inositol Phosphate Metabolism

GeneDecks OCRL for the pathways selected above

About GeneDecksing

Gene Network Central^TM Interacting Genes and Proteins Network for OCRL

2 Gene Ontology (GO) biological process terms (links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006629	lipid metabolic process	TAS	1321346 7761412
GO:0007165	signal transduction	IEA	--

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(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse drugs & compounds from Enzo Life Sciences

Browse Small Molecules at Sigma-Aldrich

Browse Tocris compounds for OCRL
6 Novoseek chemical compound relationships for OCRL gene

Compound	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
inositol 1,3,4,5-tetrakisphosphate	70.78	1	7761412 (1)
phosphatidylinositol	56.31	7	9838104 (1), 14871328 (1), 12428211 (1), 9682219 (1) (see all 7)
pip2	49.32	1	12915445 (1)
inositol 1,4,5 trisphosphate	21.30	3	9838104 (1), 7761412 (1)
chloride	19.75	1	18184518 (1)
lipid	1.07	3	7761412 (2), 9838104 (1)

About this table

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 219 Homo sapiens; Jun 2 2009) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Invitrogen, Millipore, and/or Abnova,
siRNAs from Applied Biosystems, Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene,
Tagged/untagged cDNA clones from OriGene,
Expression Assays from Applied Biosystems)
About This Section

Inhib. RNA:		Invitrogen RNAi Products for gene knock-down (OCRL)
		Browse for Gene Knock-down Tools from Millipore
		Abnova Chimera RNAi Products for Gene knock-down (OCRL)

OriGene 29mer shRNA kit in GFP-retroviral vectors (see all 2): NM_000276

Sigma-Aldrich siRNA and siRNA Panels for OCRL

Sigma-Aldrich shRNA for OCRL

Explore Sigma-Aldrich super-pooled esiRNAs

Applied Biosystems Silencer® siRNAs:

NM_000276 NM_001587

REFSEQ mRNAs for OCRL gene (2 alternative transcripts):

NM_000276.3 NM_001587.3

Applied Biosystems TaqMan ® Gene Expression Assays:

NM_000276 NM_001587

               OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): NM_000276
                                 Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): NM_000276
                                 untagged cDNA clones in CMV expression vector (see all 2): NM_000276

Additional cDNA sequence:

AK226116.1 AK293107.1 BC018003.1 BC025253.2 BC094726.1 BC130612.1 BC144106.1 S62085.1

U57627.2

7 DOTS entries:

DT.100812894 DT.318168 DT.65286184 DT.95365302 DT.121317528 DT.100719060 DT.91654765

24/207 AceView cDNA sequences (see all 207 ):

AI905389 AA904845 BG654680 BE502686 AL045748 AA977667 AA906612 AI273768

AU131510 BQ186848 NM_000276 BM667481 BM741923 AU130651 AA707458 AU143514

BC025253 AI219718 NM_001587 AW873633 AI264530 AA704671 AA725734 AI580769

highest scoring ESTs for OCRL:

U57627 AA032176 AA034374 AA034375 AA042798 AA044666 AA056392 AA085500 AA100629 AA100630

Unigene Cluster for OCRL:

Oculocerebrorenal syndrome of Lowe

Hs.126357 [show with all ESTs]

Unigene Representative Sequence: AK226116

GeneLoc Exon Structure

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

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:

About this scheme

ECgene alternative splicing isoforms for OCRL

3 Ensembl transcripts including schematic representations:

ENST00000371113 ENST00000371114 ENST00000357121

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 219 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Expression Assays from Applied Biosystems )
About This Section

OCRL expression in normal and diseased human tissues

Applied Biosystems TaqMan ® Gene Expression Assays for OCRL

¹ / ² / ³

6 probe-sets matching OCRL gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
34169_s_at²^{, 3}	U95-A	2	1.00	0.50	0.86	0.87	U57627	1.00	1.00	1.00	1
41227_at²^{, 3}	U95-A	3	1.00	0.49	0.64	1.13	AL022162	0.20	1.00	0.72	1
208316_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	M88162	0.60	1.00	0.82	1
203446_s_at²^{, 3}	U133-A	2	1.00	0.59	--	--	NM_000276	0.60	1.00	0.82	1
208316_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
203446_s_at²	U133Plus2	2	1.00	0.59	--	--	--	--	--	--	--

About this table

Data from

(Publications) and GNF BioGPS
About these images
About these images

CGAP SAGE TAG: TGGTGACATT

SOURCE GeneReport for Unigene cluster: Hs.126357
Expression variation in blood from EXPOLDB for OCRL
UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968
Tissue specificity: Brain, skeletal muscle, heart, kidney, lung, placenta and fibroblasts

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Jun 06 2009, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for OCRL gene from 5/10 species (see all 10 )

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	OCRL¹	--	oculocerebrorenal syndrome of Lowe	93.03(n) 95.22(a)	492123 XM_847283.1 XP_852376.1
cow (Bos taurus)	OCRL¹	--	oculocerebrorenal syndrome of Lowe	92.3(n) 94.34(a)	535844 XM_615958.3 XP_615958.3
rat (Rattus norvegicus)	Ocrl¹	--	oculocerebrorenal syndrome of Lowe	90.55(n) 93.99(a)	317576 XM_229106.4 XP_229106.4
mouse (Mus musculus)	Ocrl^{1, 5}	X⁵	oculocerebrorenal syndrome of Lowe^{1, 5}	88.78(n)¹ 91.56(a)¹	320634¹ NM_177215.3¹ NP_796189.2¹ AA171285⁵ AK028306⁵ (see all 20)
chicken (Gallus gallus)	OCRL¹	--	oculocerebrorenal syndrome of Lowe	75.16(n) 80.21(a)	422136 XM_420138.2 XP_420138.2

About this table Species with no ortholog for OCRL

ENSEMBL Gene Tree for OCRL

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for OCRL gene

INPPL1² INPP5B² INPP5D²

(According to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Genotyping Reagents from Applied Biosystems)
About This Section

10/151 NCBI SNPs in OCRL are shown (see all 151 )
(Click for Applied Biosystems TaqMan ® Genotyping Assay) (see all 58)

AB	SNP ID	Valid	Chr X pos	Sequence	Recs	AA Chg	Type	More	Recs	Pop	Total sample	More
AB	Genomic Data				Transcription Data				Allele Frequencies
				--	--	--		--	--			--
	rs6529391^1,2	A,C,F,H	128553538(+)	`CTGAGA/GGCAGA`	2	--	ut3¹ ese³		8	EU EA WA NA	622
	rs6529387^1,2	A,C,F,H	128501365(+)	`GAGATG/TAGGAG`	2	--	ng5¹ trp³		4	EU EA WA	418
	rs2071706^1,2	C,F,H	128552206(+)	`ACCTAA/GGGATG`	2	--	ut3¹		12	EU EA WA NA	844
	rs5930347^1,2	F,H	128500991(+)	`ccttcC/Tgtata`	2	--	ng5¹		4	EU EA WA	418
	rs5977114^1,2	F,H	128552152(+)	`GTGTTT/CTTGTG`	2	--	ut3¹		4	EU EA WA	418
--	rs7065704^1,2	A,H	128553733(+)	`TATCCT/CATCTC`	2	--	ut3¹ ese³		4	EU EA WA	418
	rs1883252^1,2	A,C,F,H,O	128530448(+)	`CCAAAA/GATTAA`	2	--	int¹		19	NA EA EU WA	1450
	rs2239747^1,2	A,C,F,H,O	128536637(+)	`GCAAGC/TTGTGG`	2	--	int¹		7	EU EA WA NA	560
	rs3131282^1,2	A,C,F,H	128548997(+)	`GTAGTC/TGTGGC`	2	--	int¹		4	EU EA WA	418
	rs1159042^1,2	A,C,F,H	128549965(+)	`ACTTGG/ATCAAA`	2	--	int¹		9	NA EA EU WA	850

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HapMap Linkage Disequilibrium images for OCRL (up to first 250kb)

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, HGMD, GAD, HuGE Navigator, BCGD, and/or TGDB.)
About This Section

OMIM: 300535 disorders: 309000 300555

UniProtKB/Swiss-Prot: OCRL_HUMAN, Q01968

Defects in OCRL are the cause of Lowe syndrome [MIM:309000]; also known as Lowe

oculocerebrorenal syndrome. The Lowe syndrome is an 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

Defects in OCRL are the cause of Dent disease type 2 (DD2) [MIM:300555]. DD2 is 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

6 Novoseek disease relationships for OCRL gene

Disease	Score	Articles	PubMed IDs for Articles with Shared Sentences (# sentences)
lowe syndrome	98.67	40	18500547 (3), 16420990 (2), 15627218 (2), 16381338 (2) (see all 26)
congenital cataract	89.53	2	15627218 (1), 9593760 (1)
dent disease	88.81	14	17162149 (4), 15627218 (2), 17384968 (2), 18038239 (2) (see all 6)
mental retardation	72.52	3	15627218 (1), 12915445 (1), 9632163 (1)
acidosis renal tubular	58.08	1	15627218 (1)
cataract	46.76	2	15627218 (1), 17162149 (1)

About this table

GeneTests: OCRL

Lowe Syndrome

Human Gene Mutation Database: OCRL

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Novoseek, ²HGNC, ³Entrez Gene, ⁴UniProtKB/Swiss-Prot, ⁵UniProtKB/TrEMBL, ⁶GAD, and/or ⁷PharmGKB)
About This Section

10/66 PubMed articles for OCRL gene (see all 66 ):

The protein deficient in Lowe syndrome is a phosphatidylinositol-4,5- bisphosphate 5-phosphatase. (PubMed id 7761412)^{1, 3, 4} Zhang X.... Majerus P.W. (1995)
Dent disease with mutations in OCRL1. (PubMed id 15627218)^{1, 3, 4} Hoopes R.R. Jr.... Scheinman S.J. (2005)
Spectrum of mutations in the OCRL1 gene in the Lowe oculocerebrorenal syndrome. (PubMed id 9199559)^{1, 3, 4} Lin T.... Nussbaum R.L. (1997)
Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes. (PubMed id 9632163)^{1, 3, 4} Kawano T.... Matsuda I. (1998)
Carrier assessment in families with Lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. (PubMed id 10767176)^{1, 3, 4} Roeschinger W.... Kammerer S. (2000)
Mutations are not uniformly distributed throughout the OCRL1 gene in Lowe syndrome patients. (PubMed id 9682219)^{1, 3, 4} Lin T.... Nussbaum R.L. (1998)
Identification of two novel mutations in the OCRL1 gene in Japanese families with Lowe syndrome. (PubMed id 9788721)^{1, 3, 4} Kubota T....Fukushima Y. (1998)
Physical mapping and genomic structure of the Lowe syndrome gene OCRL1. (PubMed id 9048911)^{1, 3, 4} Nussbaum R.L.... Chinault A.C. (1997)
Nonsense mutations in the OCRL-1 gene in patients with the oculocerebrorenal syndrome of Lowe. (PubMed id 8504307)^{1, 3, 4} Leahey A.-M.... Nussbaum R.L. (1993)
OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. (PubMed id 10923037)^{1, 3, 4} Monnier N.... Lunardi J. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, and/or H-InvDB)
About This Section

Entrez Gene: 4952	HGNC: 8108	AceView: OCRL	Ensembl:ENSG00000122126	euGenes: HUgn4952
ECgene: OCRL	H-InvDB: OCRL

(According to HUGE)
About This Section

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
Lowe Syndrome mutation database	http://research.nhgri.nih.gov/lowe/
GeneReviews	http://www.genetests.org/query?gene=OCRL

Licensable Technologies for OCRL
(Available from WIS Yeda, Salk, Tufts)

About This Section

(Reagents available from Applied Biosystems, Antibodies and assays by Cell Signaling Technology, Abcam, Novus Biologicals,
Sigma-Aldrich, R&D Systems, Millipore, Abnova, and/or Invitrogen, Clones available from OriGene,and/or Invitrogen, Drugs and/or compounds by Sigma-Aldrich,
Enzo Life Sciences, and/or Tocris Bioscience)
About This Section

Products for OCRL:

TaqMan ® Gene Expression Assays

TaqMan ® Genotyping Assays

Free SNP selection tool

Invitrogen iPath Pathways	Invitrogen BLOCK-iT™ RNAi
Invitrogen Antibodies	Invitrogen Assays
Invitrogen Clones	Invitrogen Q-PCR Products
Invitrogen Human Recombinant Kinases	Invitrogen Custom Antibody and Peptide Service
Invitrogen Proteins / Assays / Screening Services	Search Invitrogen catalog for OCRL-related products

	Millipore Custom Antibody & Bulk Services
	Millipore Preclinical / Clinical Development Services
	Millipore Immunoassay Services
	Millipore Target Screening & Profiling Services

	Predesigned and custom siRNAs for OCRL		Antibodies for OCRL
	Explore super-pooled esiRNAs		Browse proteins at Sigma-Aldrich
	Lentivirus-delivered shRNAs for OCRL		Browse small molecules at Sigma-Aldrich
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	Antibodies		Primer Pairs
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	Recombinant Proteins (OCRL)
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Antibodies for OCRL

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Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

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OCRL Gene at Home site.
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OCRL Gene

protein-coding GIFtS: 59

Aliases &
Descriptions
for OCRL

Summaries
for OCRL

Genomic Location
for OCRL

Proteins
for OCRL

Protein Domains/
Families
for OCRL

Gene Function
for OCRL

Pathways & Interactions
for OCRL

Drugs & Compounds
for OCRL

Transcripts
for OCRL

Expression
for OCRL

Orthologs
for OCRL

Paralogs
for OCRL

SNPs/Variants
for OCRL

Disorders & Mutations
for OCRL

Medical News
for OCRL

Publications
for OCRL

Search for OCRL

Genome Databases showing OCRL

Other Databases showing OCRL

Specialized Databases showing OCRL

Licensable Technologies
for OCRL

Services
for OCRL

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

OCRL Gene

protein-coding GIFtS: 59

Aliases & Descriptionsfor OCRL

Summariesfor OCRL

Genomic Locationfor OCRL

Proteinsfor OCRL

Protein Domains/Familiesfor OCRL

Gene Functionfor OCRL

Pathways & Interactionsfor OCRL

Drugs & Compoundsfor OCRL

Transcriptsfor OCRL

Expression for OCRL

Orthologsfor OCRL

Paralogsfor OCRL

SNPs/Variantsfor OCRL

Disorders & Mutationsfor OCRL

Medical Newsfor OCRL

Publicationsfor OCRL

Search for OCRL

Genome Databases showing OCRL

Other Databases showing OCRL

Specialized Databases showing OCRL

Licensable Technologiesfor OCRL

Servicesfor OCRL

Gene Index: 3 5 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Aliases &
Descriptions
for OCRL

Summaries
for OCRL

Genomic Location
for OCRL

Proteins
for OCRL

Protein Domains/
Families
for OCRL

Gene Function
for OCRL

Pathways & Interactions
for OCRL

Drugs & Compounds
for OCRL

Transcripts
for OCRL

Expression
for OCRL

Orthologs
for OCRL

Paralogs
for OCRL

SNPs/Variants
for OCRL

Disorders & Mutations
for OCRL

Medical News
for OCRL

Publications
for OCRL

Licensable Technologies
for OCRL

Services
for OCRL