OPA3 - outer mitochondrial membrane lipid metabolism regulator OPA3 Gene

Also Known as MGA3

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 80207

About OPA3

Cytogenetic location: 19q13.32 Genomic coordinates (GRCh38): 19:45,527,427-45,584,802 (from NCBI)

This gene has 3 transcripts (splice variants), 184 orthologues and is associated with 6 phenotypes. Ubiquitous expression in kidney (RPKM 3.0), heart (RPKM 2.4) and 25 other tissues.

Summary

The mouse ortholog of this protein co-purifies with the mitochondrial inner membrane. Mutations in this gene have been shown to result in 3-methylglutaconic aciduria type III and autosomal dominant optic atrophy and cataract. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009]

OPA3 Products (2)

mRNA	Protein	Name
NM_001017989.3	NP_001017989.2	optic atrophy 3 protein isoform a
NM_025136.4	NP_079412.1	optic atrophy 3 protein isoform b

Gene Ontology

Biological Process

Biological Process GO Annotation	Evidence	References	Source
involved in visual perception	IMP IMP: Inferred from mutant phenotype	15342707	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

OPA3 Protein Structure

OPA3

0
100
179 a.a.

Protein Preferred Names	Protein Names
optic atrophy 3 protein	3-methylglutaconic aciduria type III

Related Diseases

Diseases	Alias
Optic Atrophy 3, Autosomal Dominant	Optic Atrophy 3 OPA3 Autosomal Dominant Optic Atrophy And Cataract Optic Atrophy And Cataract, Autosomal Dominant Autosomal Dominant Optic Atrophy Type 3 Optic Atrophy 3 With Cataract Opa3, Autosomal Dominant Adoac Optic Atrophy, Cataract, And Neurologic Disorder Autosomal Dominant Optic Atrophy 3 Optic Atrophy Type 3 Optic Atrophy 3 Autosomal Dominant Atrophy, Optic, Type 3, Autosomal Dominant 3-Methylglutaconic Aciduria Type 3
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
3-Methylglutaconic Aciduria	3-Methyl Glutaconic Aciduria
Optic Atrophy 7 With Or Without Auditory Neuropathy	Optic Atrophy 7 OPA7 Autosomal Recessive Optic Atrophy, Opa7 Type Optic Atrophy-7 Atrophy, Optic, Type 7, With/Without Auditory Neuropathy
Toxic Optic Neuropathy
Cataract	Cataracts Cat - [Cataract] Cataract Form Lens Opacity Lens Opacities
Behr Syndrome	BEHRS Abortive Cerebellar Ataxia Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss Obsolete: Behr Syndrome Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
Optic Atrophy 4	OPA4 Optic Atrophy-4
Optic Atrophy 6	OPA6 Optic Atrophy, Congenital Or Early Infantile, Autosomal Recessive
Primary Optic Atrophy
Nutritional Optic Neuropathy
3-Methylglutaconic Aciduria, Type I	3-Methylglutaconyl-Coa Hydratase Deficiency 3-Methylglutaconic Aciduria Type 1 Mga1 MGCA1 3mg-Coa Hydratase Deficiency Mga Type I Mga, Type I 3-Mg-Coa-Hydratase Deficiency 3 Methylglutaconyl Coa Hydratase Deficiency 3-Methylglutaconic Aciduria Type I 3 Alpha Methylglutaconic Aciduria Type I 3 Methylglutaconic Aciduria Type 1 3-Mgca Type I 3mg Coa Hydratase Deficiency Auh Defect Primary 3-Methylglutaconic Aciduria 3-Methylglutaconic Aciduria 1 3-Alpha-Methylglutaconic Aciduria Type 1 3-Alpha-Methylglutaconyl-Coa Hydratase Deficiency 3-@Methylglutaconic Aciduria, Type I Megaloblastic Anemia Due To Inborn Errors Of Metabolism
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Megdel Syndrome MEGDEL Mgca6 3-Methylglutaconic Aciduria With Dystonia-Deafness, Hepatopathy, Encephalopathy, And Leigh-Like Syndrome Megdhel 3-Methylglutaconic Aciduria, Type Vi Serac1 Defect 3-Methylglutaconic Aciduria Type 6 3-Mgca Type Iv 3-Mgca-4 3-Methylglutaconic Aciduria Type Vi 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy, And Leigh-Like Syndrome Megdhel Syndrome 3-Methylglutaconic Aciduria With Deafness-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Hearing Loss-Encephalopathy-Leigh-Like Syndrome 3-Methylglutaconic Aciduria With Deafness, Encephalopathy, Leigh-Like Syndrome 3-Methylglutaconic Aciduria Type Iv With Sensorineural Deafness, Encephalopathy And Leigh-Like Syndrome
Optic Atrophy 9	OPA9 Atrophy, Optic, Type 9
Breast Liposarcoma	Liposarcoma Of The Breast
Scotoma	Enlarged Blind Spot Scotoma Of Blind Spot Area Blind Spot Area Scotoma Enlarged Angioscotoma Enlarged Paracaecal Scotoma Generalized Visual Field Contraction Or Constriction Sector Or Arcuate Visual Field Defects
3-Methylglutaconic Aciduria, Type V	3-Methylglutaconic Aciduria Type 5 Mga5 MGCA5 Dcma Dcma Syndrome Dilated Cardiomyopathy With Ataxia 3-Methylglutaconic Aciduria Type V Mga Type V Cardiomyopathy, Dilated, With Ataxia Mga, Type V Dilated Cardiomyopathy With Ataxia Syndrome Dnajc19 Defect 3-Methylglutaconic Aciduria 5 3-Alpha-Methylglutaconic Aciduria Type 5 3-@Methylglutaconic Aciduria, Type V
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Peripheral Neuropathy And Optic Atrophy Cmt6 Charcot-Marie-Tooth Disease Type 6 Hmsn Vi HMSN6A Hmsn Via Hmsn6 Cmt6a Charcot-Marie-Tooth Disease, Type 6 Hereditary Motor And Sensory Neuropathy Type 6 Hereditary Motor And Sensory Neuropathy Type Vi Neuropathy, Hereditary Motor And Sensory, Type 6a Neuropathy, Hereditary Motor And Sensory, Type Vi Charcot-Marie-Tooth Disease, Type 6a Hereditary Motor And Sensory Neuropathy Via Hmsn 6 Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy Charcot-Marie-Tooth Disease 6 Charcot-Marie-Tooth Disease 6a Hereditary Motor And Sensory Neuropathy Type Via Hereditary Motor And Sensory Neuropathy Vi
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Pontocerebellar Hypoplasia, Type 1e	Pontocerebellar Hypoplasia Type 1 PCH1E Norman Disease Pch1 Pontocerebellar Hypoplasia With Anterior Horn Cell Disease Pontocerebellar Hypoplasia With Infantile Spinal Muscular Atrophy Pontocerebellar Hypoplasia Type 1e Pontocerebellar Hypoplasia 1e Doid:0112322 Doid:0112330
Tritanopia	Blue Color Blindness Colorblindness, Tritan Blue Colorblindness CBT Colorblindness, Tritanopic Tritan Defect Blue Colour Blindness Congenital Tritanopia Tritan Colour Blindness Tritan Color Blindness Color Vision Defects Color Blindness, Blue Color Vision Defect Color Blindness
Organic Acidemia	Organic Aciduria Disorder Of Organic Acid Metabolism Organic Acid Metabolism Disorder Organic Acidemias Inherited Organic Acidemia Organic Acidurias Aciduria Organic
Senile Ectropion	Involutional Ectropion
Spinocerebellar Ataxia 28	Spinocerebellar Ataxia Type 28 SCA28 Ataxia, Spinocerebellar, Type 28
3-Methylglutaconic Aciduria, Type Iv	3-Methylglutaconic Aciduria Type 4 Mga4 MGCA4 3-Methylglutaconic Aciduria Type Iv Mga, Type Iv Mga Type Iv Not Otherwise Specified 3-Mga-Uria Type 3 Alpha Methylglutaconic Aciduria Type Iv 3 Methylglutaconic Aciduria Type Iv
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Spastic Paraplegia 55, Autosomal Recessive	SPG55 Hereditary Spastic Paraplegia 55 Autosomal Recessive Spastic Paraplegia Type 55 Autosomal Recessive Spastic Paraplegia 55 Paraplegia, Spastic, Autosomal Recessive, Type 55
Wolfram Syndrome	Didmoad Syndrome Didmoad Diabetes Insipidus And Mellitus With Optic Atrophy And Deafness Wfs Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, And Deafness Didmoadud Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Deafness Syndrome Diabetes Insipidus-Diabetes Mellitus-Optic Atrophy-Hearing Loss Syndrome
Barth Syndrome	3-Methylglutaconic Aciduria Type 2 BTHS Cardioskeletal Myopathy With Neutropenia And Abnormal Mitochondria Mga Type Ii Mga2 Mgca2 Mga Type 2 3-Methylglutaconic Aciduria Type Ii 3-Methylglutaconic Aciduria, Type Ii Mga, Type Ii 3-Methylglutaconicaciduria Type 2 3-Methylglutaconicaciduria Type Ii Taz Defect 3 Methylglutaconic Aciduria, Type Ii Dnajc19 Defect Cardioskeletal Myopathy-Neutropenia Syndrome X-Linked Cardioskeletal Myopathy And Neutropenia 3-Alpha-Methylglutaconic Aciduria Type 2 Agm2 Cardioskeletal Myopathy-Neutropenia Invm Left Ventricular Non-Compaction Isolated X-Linked Non-Compaction Of Left Ventricular Myocardium Isolated X-Linked Agammaglobulinemia 2, Autosomal Recessive
Lens Disease	Lens Diseases
Exotropia	Divergent Concomitant Strabismus Divergent Strabismus Divergent Squint External Strabismus Xt - [Exotropia]
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Amino Acid Metabolic Disorder	Amino Acid Metabolism, Inborn Errors Inborn Errors Of Amino Acid Metabolism Disorder Of Amino Acid Metabolism Amino Acid Metabolism Disorders
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS09790	OPA3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	OPA3	VGNC	VGNC:75587
Bos taurus	OPA3	VGNC	VGNC:32433
Rattus norvegicus	OPA3	RGD	RGD:1309147
Mus musculus	OPA3	MGD	MGI:2686271
Canis familiaris	OPA3	VGNC	VGNC:44126
Others	OPA3	NCBI