POLG2 - DNA polymerase gamma 2, accessory subunit Gene

Homo sapiens

Also known as HP55; POLB; PEOA4; POLGB; MTPOLB; MTDPS16; MTDPS16A; MTDPS16B; POLG-BETA

Gene ID: 11232 | Gene type: protein coding

About POLG2

Cytogenetic location: 17q23.3 Genomic coordinates (GRCh38): 17:64,477,785-64,497,054 (from NCBI)

This gene has 12 transcripts (splice variants), 190 orthologues, 1 paralogue and is associated with 4 phenotypes. Broad expression in testis (RPKM 7.8), lymph node (RPKM 4.4) and 25 other tissues.

Summary

This gene encodes the processivity subunit of the mitochondrial DNA polymerase gamma. The encoded protein forms a heterotrimer containing one catalytic subunit and two processivity subunits. This protein enhances DNA binding and promotes processive DNA synthesis. Mutations in this gene result in autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions.[provided by RefSeq, Sep 2009]

POLG2 Products(1)

mRNA	Protein	Name
NM_007215.4	NP_009146.2	DNA polymerase subunit gamma-2, mitochondrial

POLG2 Protein Structure

HGTP_anticodon

0
100
200
300
400
485 a.a.

Protein Preferred Names

Protein Names

DNA polymerase subunit gamma-2, mitochondrial

DNA polymerase gamma accessory 55 kDa subunit

Related Diseases

Diseases

Alias

Mitochondrial Dna Depletion Syndrome 16b

MTDPS16B

Mitochondrial Dna Depletion Syndrome 16b, Neuroophthalmic Type

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4

PEOA4	Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 4
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 4	Chronic Progressive External Ophthalmoplegia
Progressive External Ophthalmoplegia, Autosomal Dominant 4	Autosomal Dominant Progressive External Ophthalmoplegia 4
Cpeo	Graefe Disease
Mitochondrial Ocular Myopathy	Ocular Myopathy Of Von Graefe-Fuchs
Progressive External Ophthalmoplegia Autosomal Dominant 4	Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 4
Kearns-Sayre Syndrome

Mitochondrial Dna Depletion Syndrome 16

MTDPS16

Mitochondrial Dna Depletion Syndrome 16, Hepatic Type

Autosomal Dominant Progressive External Ophthalmoplegia

Adpeo

Acute Liver Failure

Fulminant Hepatic Failure	Acute Hepatic Failure
Liver Failure Acute	Hepatic Failure Fulminant
Liver Failure, Acute

Chronic Progressive External Ophthalmoplegia

Progressive External Ophthalmoplegia	Cpeo
Peo	Ophthalmoplegia, Chronic Progressive External
Ophthalmoplegia, External, Progressive, Chronic	Graefe Disease
Peo - [Progressive External Ophthalmoplegia]	Ophthalmoplegia Plus Syndrome

Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome

Mitochondrial Dna Depletion Syndrome 4a

Alpers Syndrome	Alpers-Huttenlocher Syndrome
Alpers Progressive Infantile Poliodystrophy	Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis
Alpers Disease	Progressive Sclerosing Poliodystrophy
Pndc	Diffuse Cerebral Sclerosis Of Schilder
MTDPS4A	Neuronal Degeneration Of Childhood With Liver Disease, Progressive
Alper'S Syndrome	Alpers' Disease Or Gray-Matter Degeneration
Diffuse Cerebral Degeneration In Infancy	Infantile Poliodystrophy
Poliodystrophia Cerebri Progressiva	Progressive Cerebral Poliodystrophy
Alpers' Disease	Alpers Progressive Sclerosing Poliodystrophy
Progressive Neuronal Degeneration Of Childhood With Liver Disease	Ahs
Mitochondrial Dna Depletion Syndrome 4a Alpers Type	Neuronal Degeneration Of Childhood With Liver Disease Progressive

Parkinsonism

Parkinsonism-Plus	Idiopathic Parkinsonism
Primary Parkinsonism	Paralysis Agitans Syndrome
Parkinsonian Syndrome	Trembling Paralysis
Paralysis Agitans	Shaking Palsy
Shaking Paralysis

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

Mitochondrial Dna Depletion Syndrome 7

Ohaha Syndrome	Infantile Onset Spinocerebellar Ataxia
Iosca	Infantile-Onset Spinocerebellar Ataxia
Spinocerebellar Ataxia 8	MTDPS7
Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis	Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome
Sca8	Spinocerebellar Ataxia Infantile With Sensory Neuropathy
Spinocerebellar Ataxia, Infantile-Onset	Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis
Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy	Spinocerebellar Ataxia 8, Formerly
Sca8, Formerly	Iosca, Mitochondrial Dna Depletion Syndrome 7
Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis	Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form
Mtdna Depletion Syndrome, Hepatocerebrorenal Form	Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type
Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis	Pure Spinocerebellar Ataxia Japanese Type
Sca4 Pure Japanese Type	Spinocerebellar Ataxia Infantile-Onset
Mitochondrial Dna Depletion Syndrome , Type 7

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

Axonal Neuropathy

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Metabolic Acidosis

Mitochondrial Dna Depletion Syndrome 6

Navajo Neurohepatopathy	Navajo Neuropathy
MTDPS6	Nnh
Nn	Mpv17-Related Hepatocerebral Mitochondrial Dna Depletion Syndrome
Navajo Familial Neurogenic Arthropathy	Mpv17-Associated Hepatocerebral Mds
Mitochondrial Dna Depletion 6 Hepatocerebral Type	Mitochondrial Dna Depletion Syndrome , Type 6

Polyneuropathy

Polyneuropathies

Myopathy

Muscular Diseases

Myopathies

Mitochondrial Dna Depletion Syndrome 2

Mitochondrial Dna Depletion Syndrome, Myopathic Form	MTDPS2
Tk2-Related Mitochondrial Dna Depletion Syndrome, Myopathic Form	Mitochondrial Dna Depletion Myopathy, Tk2-Related
Tk2-Related Mitochondrial Dna Depletion Myopathy	Mtdna Depletion Syndrome, Myopathic Form
Mitochondrial Dna Depletion Myopathy Tk2-Related	Mitochondrial Dna Depletion Syndrome 2 Myopathic Type
Myopathic Mitochondrial Dna Depletion Syndrome	Mitochondrial Dna Depletion Syndrome, Type 2

Toxic Optic Neuropathy

Mitochondrial Dna Depletion Syndrome 4b

Mitochondrial Neurogastrointestinal Encephalopathy Syndrome	Mngie Syndrome
Thymidine Phosphorylase Deficiency	MTDPS4B
Mitochondrial Neurogastrointestinal Encephalopathy Disease	Mngie
Myoneurogastrointestinal Encephalopathy Syndrome	Ogimd
Oculogastrointestinal Muscular Dystrophy	Polip
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudo-Obstruction	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Polg-Related
Mngie, Polg-Related	Mepop
Mitochondrial Myopathy With Sensorimotor Polyneuropathy, Ophthalmoplegia, And Pseudo-Obstruction	Mngie Disease
Mitochondrial Dna Depletion Syndrome 4b Mngie Type	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Polg-Related
Mngie Polg-Related	Mitochondrial Dna Depletion Syndrome, Type 4b
Visceral Myopathy Familial External Ophthalmoplegia

Ocular Motility Disease

Ocular Motility Disorders	Abnormality Of Eye Movement
Disorder Of Eye Movements	Eye Movement Disorder
Eye Movement Disorders

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Mitochondrial Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

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

Mitochondrial Dna Depletion Syndrome 1

MTDPS1	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Tymp-Related
Myoneurogastrointestinal Encephalopathy Syndrome	Polip Syndrome
Mitochondrial Dna Depletion Syndrome, Type 1	Mngie, Tymp-Related
Polyneuropathy, Ophthalmoplegia, Leukoencephalopathy, And Intestinal Pseudoobstruction	Mitochondrial Dna Depletion Syndrome 1, Mngie Type
Mitochondrial Neurogastrointestinal Encephalomyopathy	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Tymp-Related
Myoneurogastrointestinal Encephalomyopathy	Polyneuropathy Ophthalmoplegia Leukoencephalopathy And Intestinal Pseudoobstruction
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mitochondrial Dna Depletion Syndrome 3

Deoxyguanosine Kinase Deficiency	Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form
MTDPS3	Dguok Deficiency
Dguok-Related Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form	Dguok-Related Mitochondrial Dna Depletion Syndrome
Hepatocerebral Mitochondrial Dna Depletion Syndrome	Mtdna Depletion Syndrome, Hepatocerebral Form
Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form Due To Dguok Deficiency	Hepatocerebral Mitochondrial Dna Deletions Syndrome Autosomal Recessive
Mitochondrial Dna Depletion Syndrome 3 Hepatocerebral Type	Mitochondrial Dna Depletion Syndrome , Type 3

Male Infertility

Infertility, Male	Infertility Male
Male Sterility	Absolute Infertility

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

Ptosis

Blepharoptosis	Drooping Eyelid
Droopy Eyelid	Ptosis Of Eyelid
Paralysis Of Levator Palpebrae Superioris

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

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

Mitochondrial Complex I Deficiency, Nuclear Type 1

Mitochondrial Complex I Deficiency	Nadh:Q(1) Oxidoreductase Deficiency
MC1DN1	Nadh-Coenzyme Q Reductase Deficiency
Isolated Mitochondrial Respiratory Chain Complex I Deficiency	Isolated Nadh-Coenzyme Q Reductase Deficiency
Isolated Nadh-Coq Reductase Deficiency	Isolated Nadh-Ubiquinone Reductase Deficiency
Mitochondrial Nadh Dehydrogenase Component Of Complex I, Deficiency Of	Nuclear Type Mitochondrial Complex I Deficiency 1
Isolated Complex I Deficiency	Complex 1 Mitochondrial Respiratory Chain Deficiency
Nadh Coenzyme Q Reductase Deficiency	Complex I Mitochondrial Respiratory Chain Deficiency
Deficiency Of Mitochondrial Nadh Dehydrogenase Component Of Complex I	Nadh:Ubiquinone Oxidoreductase Deficiency
Complex I, Mitochondrial Respiratory Chain, Deficiency Of

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

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10830	POLG2 Human Pre-designed siRNA Set A		/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	POLG2	VGNC	VGNC:76206
Rattus norvegicus	POLG2	RGD	RGD:1305128
Bos taurus	POLG2	VGNC	VGNC:33123
Canis familiaris	POLG2	VGNC	VGNC:44782
Mus musculus	POLG2	MGD	MGI:1354947
Felis catus	POLG2	VGNC	VGNC:68941