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 6 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	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		-	-	-

Summary