AFG3L2 - AFG3 like matrix AAA peptidase subunit 2 Gene

Also Known as OPA12; SCA28; SPAX5

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 10939

About AFG3L2

Cytogenetic location: 18p11.21 Genomic coordinates (GRCh38): 18:12,328,944-12,377,227 (from NCBI)

This gene has 12 transcripts (splice variants), 192 orthologues, 2 paralogues and is associated with 8 phenotypes. Ubiquitous expression in duodenum (RPKM 38.9), heart (RPKM 35.3) and 25 other tissues.

Summary

This gene encodes a protein localized in mitochondria and closely related to paraplegin. The paraplegin gene is responsible for an autosomal recessive form of hereditary spastic paraplegia. This gene is a candidate gene for Other hereditary spastic paraplegias or neurodegenerative disorders. [provided by RefSeq, Jul 2008]

AFG3L2 Products (1)

mRNA	Protein	Name
NM_006796.3	NP_006787.2	AFG3-like protein 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables ATP hydrolysis activity	IDA IDA: Inferred from direct assay	19748354	GOA
enables metalloendopeptidase activity	IDA IDA: Inferred from direct assay	19748354	GOA
enables metallopeptidase activity	IMP IMP: Inferred from mutant phenotype	27642048	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14623864	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in axonogenesis	IMP IMP: Inferred from mutant phenotype	27642048	GOA
involved in calcium import into the mitochondrion	IMP IMP: Inferred from mutant phenotype	27642048	GOA
involved in cellular response to glutathione	IDA IDA: Inferred from direct assay	37917749	GOA
involved in membrane protein proteolysis	IDA IDA: Inferred from direct assay	22354088	GOA
involved in mitochondrial calcium ion homeostasis	IMP IMP: Inferred from mutant phenotype	27642048	GOA
involved in mitochondrial protein quality control	IDA IDA: Inferred from direct assay	26504172	GOA
involved in protein catabolic process	IDA IDA: Inferred from direct assay	37917749	GOA
involved in protein maturation	IDA IDA: Inferred from direct assay	29932645	GOA
involved in proteolysis	IDA IDA: Inferred from direct assay	35912435	GOA
involved in proteolysis	IMP IMP: Inferred from mutant phenotype	27642048	GOA
involved in regulation of calcium import into the mitochondrion	IDA IDA: Inferred from direct assay	27642048	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of m-AAA complex	IDA IDA: Inferred from direct assay	19748354	GOA
is active in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	37917749	GOA
located in mitochondrion	IDA IDA: Inferred from direct assay	22354088	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

Protein Preferred Names	Protein Names
AFG3-like protein 2	AFG3 ATPase family gene 3-like 2

AFG3L2 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P811290	AFG3L2 Antibody	WB, IHC-P, IP	Human, Mouse, Rat

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 28	Spinocerebellar Ataxia Type 28 SCA28 Ataxia, Spinocerebellar, Type 28
Spastic Ataxia 5, Autosomal Recessive	SPAX5 Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome Afg3l2-Related Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome Autosomal Recessive Spastic Ataxia Type 5 Ataxia, Spastic, Type 5, Autosomal Recessive
Optic Atrophy 12	OPA12
Spastic Ataxia 5
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Myoclonus
Spasticity
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
Choreatic Disease	Chorea Hereditary Chorea
Spastic Paraparesis
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Sensorineural Hearing Loss	Sensory Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss Disorder Hearing Loss, Sensorineural Central Hearing Loss High Frequency Deafness High Frequency Hearing Loss High-Frequency Hearing Loss Perceptive Deafness Perceptive Hearing Loss Perceptive Hearing Loss Or Deafness Hearing Loss Sensorineural Deafness Sensorineural Hearing Loss High-Frequency Hearing Loss, Central Hearing Loss, High-Frequency
Spastic Ataxia	Spax Ataxia, Spastic
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Spastic Paraplegia 7, Autosomal Recessive	SPG7 Hereditary Spastic Paraplegia 7 Spastic Paraplegia Type 7 Spastic Paraplegia 7 Hereditary Spastic Paraplegia, Paraplegin Type Autosomal Recessive Spastic Paraplegia 7 Hereditary Spastic Paraplegia Paraplegin Type Spastic Paraplegia-7 Paraplegia, Spastic, Autosomal Recessive, Type 7 Spastic Paraplegia, Hereditary Autosomal Recessive Hereditary Spastic Paraplegia
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures	OPA10 Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures Optic Atrophy 10 Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures
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
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spinocerebellar Ataxia 21	Spinocerebellar Ataxia Type 21 SCA21 Ataxia, Spinocerebellar, Type 21
Spinocerebellar Ataxia 29	Spinocerebellar Ataxia Type 29 SCA29 Cnpca Cerebellar Vermis Aplasia Aplasia Of Cerebellar Vermis Acv Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant Spinocerebellar Ataxia 29, Congenital Nonprogressive Congenital Nonprogressive Spinocerebellar Ataxia Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive Familial Aplasia Of The Vermis
Spastic Paraplegia 46, Autosomal Recessive	SPG46 Hereditary Spastic Paraplegia 46 Autosomal Recessive Spastic Paraplegia Type 46 Autosomal Recessive Spastic Paraplegia 46 Paraplegia, Spastic, Type 46, Autosomal Recessive
Codas Syndrome	Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome Cerebrooculodentoauriculoskeletal Syndrome CODASS Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Spinocerebellar Ataxia 18	Spinocerebellar Ataxia Type 18 SCA18 Smna Sensorimotor Neuropathy With Ataxia, Autosomal Dominant Sensorimotor Neuropathy With Ataxia Autosomal Dominant
Spinocerebellar Ataxia 15	SCA15 Spinocerebellar Ataxia Type 15 Spinocerebellar Ataxia Type 16 Sca16 Spinocerebellar Ataxia Type 15/16 Spinocerebellar Ataxia 16, Formerly Sca16, Formerly Spinocerebellar Ataxia 16 Sca15/16 Ataxia, Spinocerebellar, Type 15
Optic Atrophy 9	OPA9 Atrophy, Optic, Type 9
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
Cerebellar Ataxia Type 48	Sca48
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Optic Atrophy 5	OPA5 Atrophy, Optic, Type 5
Spinocerebellar Ataxia, Autosomal Recessive 14	Autosomal Recessive Spinocerebellar Ataxia 14 SCAR14 Sparca1 Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1 Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur Autosomal Recessive Spinocerebellar Ataxia Type 14 Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome Sparca Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1 Spinocerebellar Ataxia, Autosomal Recessive, 14 Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1 Ataxia, Spinocerebellar, Autosomal Recessive, Type 14
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Dominant Optic Atrophy Plus Syndrome DOA+ Adoa Autosomal Dominant Optic Atrophy Doa Optic Atrophy Plus Syndrome Dominant Optic Atrophy Optic Atrophy With Or Without Deafness Ophthalmoplegia Myopathy Ataxia And Neuropathy Optic Atrophy, Dominant 3-Methylglutaconic Aciduria Type 3 Optic Atrophy, Autosomal Dominant
Oculomotor Apraxia
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
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Spinocerebellar Ataxia, Autosomal Recessive 17	Autosomal Recessive Spinocerebellar Ataxia 17 SCAR17 Autosomal Recessive Cerebellar Ataxia Due To Cwf19l1 Deficiency Spinocerebellar Ataxia Autosomal Recessive Type 17 Spinocerebellar Ataxia, Autosomal Recessive, 17 Ataxia, Spinocerebellar, Autosomal Recessive, Type 17
Cerebellar Ataxia Type 43	Sca43
Spinocerebellar Ataxia 35	Spinocerebellar Ataxia Type 35 SCA35 Ataxia, Spinocerebellar, Type 35
Optic Atrophy 11	OPA11 Atrophy, Optic, Type 11
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
Spinocerebellar Ataxia, X-Linked 1	X-Linked Progressive Cerebellar Ataxia SCAX1 Opcax X-Linked Spinocerebellar Ataxia 1 Olivopontocerebellar Atrophy, X-Linked Opca, X-Linked Olivopontocerebellar Atrophy X-Linked Opca X-Linked Ataxia, Spinocerebellar, X-Linked Type 1
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Dentatorubral-Pallidoluysian Atrophy	DRPLA Naito-Oyanagi Disease Haw River Syndrome Myoclonic Epilepsy With Choreoathetosis Nod Ataxia, Chorea, Seizures, And Dementia Dentatorubropallidoluysian Atrophy Hrs Naito Oyanagi Disease Dentatorubral Pallidoluysian Atrophy Dentatorubro-Pallidoluysian Atrophy Myoclonic Epilepsies, Progressive Atrophy, Pallidoluysian, Dentatorubral
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Progressive Myoclonus Epilepsy	Pme Progressive Myoclonic Epilepsy Myoclonic Epilepsies, Progressive Unverricht-Lundborg Syndrome
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
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
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
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
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders

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-RS00432	AFG3L2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	AFG3L2	MGD	MGI:1916847
Canis familiaris	AFG3L2	VGNC	VGNC:37690
Felis catus	AFG3L2	VGNC	VGNC:80421
Bos taurus	AFG3L2	VGNC	VGNC:25714
Macaca mulatta	AFG3L2	VGNC	VGNC:104218
Rattus norvegicus	AFG3L2	RGD	RGD:1305259
Others	AFG3L2	NCBI