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Symbol report for OCRL

Stable symbol

HGNC data for OCRL

Approved symbol
OCRL
Approved name

OCRL inositol polyphosphate-5-phosphatase

Locus type
gene with protein product
HGNC ID
HGNC:8108
Symbol status
Approved
Previous names
oculocerebrorenal syndrome of Lowe
Alias symbols
OCRL1
Dent-2
Alias names
Dent disease 2
Chromosomal location
Xq26.1
Gene groups
Gene resources for OCRL
Ensembl
ENSG00000122126 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
4952 Curated
UCSC
uc004euq.4
Alliance of Genome Resources
HGNC:8108
Nucleotide resources for OCRL
MANE Select
NM_000276.4
ENST00000371113.9
INSDC
U57627 Curated
ENAGenBankDDBJ
RefSeq
NM_000276 Curated
NCBI sequence viewer
CCDS
CCDS35393 Curated
CCDS35394 Curated
Protein resources for OCRL
UniProt/Swiss-Prot
Q01968
InterProPDBeReactome
AlphaFold
AF-Q01968-F1
Enzyme Commission
3.1.3.36 Curated
ExpasyBRENDAKEGGIntEnzIUBMB Enzyme Nomenclature
Orthologs from selected species for OCRL
Bos taurus
OCRL VGNC:32398 VGNC
Canis familiaris
OCRL VGNC:44095 VGNC
Equus caballus
OCRL VGNC:21004 VGNC
Felis catus
OCRL VGNC:68616 VGNC
Macaca mulatta
OCRL VGNC:75577 VGNC
Mus musculus
Ocrl MGI:109589 Curated
Pan troglodytes
OCRL VGNC:10468 VGNC
Rattus norvegicus
Ocrl RGD:1594526
Sus scrofa
OCRL VGNC:91014 VGNC
Specialist resources for OCRL
IUPHAR/BPS Guide to PHARMACOLOGY
1460
Clinical resources for OCRL
OMIM
300535
LSDB
Database of the OCRL1 Mutations Causing Lowe Syndrome Curated
LOVD at NCBI Curated
GenCC
HGNC:8108
MedlinePlus
Search via OCRL
DECIPHER
Search via OCRL
ClinGen
Search via HGNC:8108
Genetic Testing Registry
Search via NCBI Gene ID 4952
ClinVar
Search via NCBI Gene ID 4952
dbVar
Search via NCBI Gene ID 4952
Orphanet
123978
Other resources for OCRL
AmiGO
Search via Q01968
QuickGO
Search via Q01968
BioGPS
Search via NCBI Gene ID 4952
GeneCards
Search via HGNC:8108
Monarch
Search via HGNC:8108
WikiGenes
Search via NCBI Gene ID 4952