Gene: OCRL ENSG00000122126

Description

oculocerebrorenal syndrome of Lowe [Source:HGNC Symbol;Acc:8108]

Gene Synonyms

INPP5F, LOCR, NPHL2, OCRL-1, OCRL1

Location

GRCh37:CM000685.1

About this gene

This gene has 4 transcripts (splice variants), 8 paralogues and is associated with 8 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000371113.4	OCRL-001	5162	901aa	ENSP00000360154.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS35393	Q01968	NM_000276.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000357121.5	OCRL-002	5138	893aa	ENSP00000349635.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS35394	Q01968	NM_001587.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000486673.1	OCRL-003	942	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000463271.1	OCRL-005	856	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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