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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. OCRL, oculocerebrorenal syndrome of Lowe
Sequence ID:NM_000276
NM_001587
RefSeqGene ID:NG_008638
Entrez Gene ID:4952
Ensembl ID:ENSG00000122126

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
DENT DISEASECLCN5
DENT DISEASE 2 
LOWE SYNDROME 

Cytogenetic Location (from UniGene)

Cytogenetic Location:Xq25Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:X: 128674231 - 128726528

 Exon Info From UCSC:
NM_000276
NM_001587

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
9052626Full LengthBC144106oculocerebrorenal syndrome of Lowe
30528571Full LengthBC094726oculocerebrorenal syndrome of Lowe
40146643Full LengthBC130612oculocerebrorenal syndrome of Lowe
4272671IncompleteBC018003oculocerebrorenal syndrome of Lowe
4864910IncompleteBC025253oculocerebrorenal syndrome of Lowe

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000267  NP_001578  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000276 NP_000267 Q01968 EC 3.1.3.36 RhoGAP
Exo_endo_phos
NM_001587 NP_001578     RhoGAP
Exo_endo_phos

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
U57627 AAB03839 Q01968 EC 3.1.3.36
S62085 AAB26926 Q01968 EC 3.1.3.36
S62084 AAD13933 Q16028  
BC018003 AAH18003 Q8WWC2  
BC025253 AAH25253 Q6PJ10  
BC094726 AAH94726 Q504W7  
BC130612 AAI30613 Q01968 EC 3.1.3.36
BC144106 AAI44107 Q01968 EC 3.1.3.36
AK293107 BAF85796 Q01968 EC 3.1.3.36

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens OCRL NP_000267 R.norvegicus Ocrl 317576   NP_001101726 95
M.musculus Ocrl 320634 Gene Info NP_796189 92
A.gambiae AgaP_AGAP010556 3291116   XP_558090 38
D.melanogaster CG3573 31157   NP_569962 36

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)