AFG3L2 - AFG3 like matrix AAA peptidase subunit 2 Gene

Homo sapiens

Also known as OPA12; SCA28; SPAX5

Gene ID: 10939 | Gene type: protein coding

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	Reference	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	Reference	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	Reference	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

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

Related Agents

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 Sets	/	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