Gene: OPA3 ENSG00000125741

Description

optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) [Source:HGNC Symbol;Acc:8142]

Gene Synonyms

FLJ22187, MGA3

Location

GRCh37:CM000681.1

About this gene

This gene has 3 transcripts (splice variants) and is associated with 4 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000263275.4	OPA3-002	7828	179aa	ENSP00000263275.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS12668	B4DK77 Q9H6K4	NM_025136.3	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000323060.3	OPA3-001	2250	180aa	ENSP00000319817.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS33052	Q9H6K4	NM_001017989.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000544371.1	OPA3-003	1146	126aa	ENSP00000442839.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B4DK77	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

Summary