RRM2B - ribonucleotide reductase regulatory TP53 inducible subunit M2B Gene

Homo sapiens

Also known as P53R2; RCDFRD; MTDPS8A; MTDPS8B

Gene ID: 50484 | Gene type: protein coding

About RRM2B

Cytogenetic location: 8q22.3 Genomic coordinates (GRCh38): 8:102,204,501-102,238,961 (from NCBI)

This gene has 10 transcripts (splice variants), 203 orthologues, 1 paralogue and is associated with 9 phenotypes. Ubiquitous expression in thyroid (RPKM 25.9), adrenal (RPKM 13.2) and 25 other tissues.

Summary

This gene encodes the small subunit of a p53-inducible ribonucleotide reductase. This heterotetrameric Enzyme catalyzes the conversion of ribonucleoside diphosphates to deoxyribonucleoside diphosphates. The product of this reaction is necessary for DNA synthesis. Mutations in this gene have been associated with autosomal recessive mitochondrial DNA depletion syndrome, autosomal dominant progressive external ophthalmoplegia-5, and mitochondrial neurogastrointestinal encephalopathy. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2010]

RRM2B Products(3)

mRNA	Protein	Name
NM_001172477.1	NP_001165948.1	ribonucleoside-diphosphate reductase subunit M2 B isoform 2
NM_001172478.2	NP_001165949.1	ribonucleoside-diphosphate reductase subunit M2 B isoform 3
NM_015713.5	NP_056528.2	ribonucleoside-diphosphate reductase subunit M2 B isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	25416956	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19015526	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in 2'-deoxyribonucleotide biosynthetic process	IDA IDA: Inferred from direct assay	16376858	GOA
involved in DNA repair	IDA IDA: Inferred from direct assay	11719458	GOA
involved in mitochondrial DNA replication	IMP IMP: Inferred from mutant phenotype	17486094	GOA
involved in positive regulation of G0 to G1 transition	IDA IDA: Inferred from direct assay	11517226	GOA
involved in positive regulation of G2/M transition of mitotic cell cycle	IDA IDA: Inferred from direct assay	10716435	GOA
involved in ribonucleoside diphosphate metabolic process	IDA IDA: Inferred from direct assay	16376858	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in cytosol	IDA IDA: Inferred from direct assay	18997010	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

RRM2B Protein Structure

Ribonuc_red_sm

0
100
200
300
351 a.a.

Protein Preferred Names

Protein Names

ribonucleoside-diphosphate reductase subunit M2 B

TP53-inducible ribonucleotide reductase M2 B

Recombinant RRM2B Proteins

Cat. No.	Product Name	Accession	Purity
HY-P76534	p53R2 Protein, Human (His)	Q7LG56-1 (M1-F351)	≥95%

Related Diseases

Diseases

Alias

Mitochondrial Dna Depletion Syndrome 8a

Mitochondrial Dna Depletion Syndrome 8b	MTDPS8A
Rrm2b-Related Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy
Mtdna Depletion Syndrome, Encephalomyopathic Form With Renal Tubulopathy	Mitochondrial Dna Depletion Syndrome, Encephalomyopathic, With Renal Tubulopathy, Autosomal Recessive
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome, Rrm2b-Related	Rrm2b-Related Mitochondrial Dna Depletion Syndrome
Encephalomyopathic Type With Renal Tubulopathy	Rrm2b-Mds
Encephalomyopathic Mitochondrial Depletion Syndrome With Renal Tubulopathy	Mitochondrial Dna Depletion Syndrome 8a Encephalomyopathic Type With Renal Tubulopathy
Mitochondrial Dna Depletion Syndrome Encephalomyopathic With Renal Tubulopathy Autosomal Recessive	MTDPS8B
Mitochondrial Dna Depletion Syndrome 8b Mngie Type	Mitochondrial Neurogastrointestinal Encephalopathy Syndrome Rrm2b-Related
Mngie Rrm2b-Related	Visceral Myopathy Familial External Ophthalmoplegia
Mitochondrial Dna Depletion Syndrome, Type 8a

Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction

RCDFRD

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5

PEOA5	Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 5
Progressive External Ophthalmoplegia, Autosomal Dominant 5	Autosomal Dominant Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 5
Autosomal Dominant Progressive External Ophthalmoplegia 5	Progressive External Ophthalmoplegia Autosomal Dominant 5
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 5

Autosomal Dominant Progressive External Ophthalmoplegia

Adpeo

Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2

PEOB2	Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Adult-Onset Cpeo With Mitochondrial Myopathy	Progressive External Ophthalmoplegia, Autosomal Recessive 2
Autosomal Recessive Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions 2	Autosomal Recessive Progressive External Ophthalmoplegia 2
Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Recessive, Type 2

Camptocormism

Idiopathic Camptocormia	Idiopathic Camptocormism
Idiopathic Progressive Lumbar Kyphosis	Bent Spine Syndrome
Bent Spine	Camptocormia

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

Mitochondrial Neurogastrointestinal Encephalomyopathy

Mngie	Mitochondrial Neurogastrointestinal Encephalomyopathy Syndrome
Mitochondrial Neurogastrointestinal Encephalopathy Syndrome

Mitochondrial Disease

Mitochondrial Diseases

Mitochondrial Disorder

Fanconi Renotubular Syndrome 1

Renal Fanconi Syndrome	Adult Fanconi Syndrome
FRTS1	Fanconi Renotubular Syndrome
Frts	Rfs
Fanconi Syndrome Without Cystinosis	Luder-Sheldon Syndrome

Mitochondrial Dna Depletion Syndrome

Mtdna Depletion Syndrome

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

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

Squamous Cell Carcinoma

Epidermoid Carcinoma	Squamous Cell Cancer
Carcinoma, Squamous Cell	Squamous Cell Skin Cancer
Malignant Squamous Cell Tumor	Squamous Carcinoma
Squamous Cell Epithelioma	Carcinoma Squamous Cell
Neoplasms, Squamous Cell	Squamous Cell Carcinoma - Category
Malignant Squamous Cell Neoplasm	Squamous Cell Carcinoma Of Skin

Axonal Neuropathy

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

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

Retinitis Pigmentosa

RP	Rod-Cone Dystrophy
Autosomal Recessive Retinitis Pigmentosa	Non-Syndromic Retinitis Pigmentosa
Pericentral Pigmentary Retinopathy	Pigmentary Retinopathy
Tapetoretinal Degeneration	Rcd
Retinitis Pigmentosa Autosomal Recessive	ARRP
Retinitis Pigmentosa, Autosomal Recessive	Retinitis Pigmentosa 1

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

Ptosis

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

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

Lactic Acidosis

Acidosis, Lactic

Acidosis Lactic

Mitochondrial Metabolism Disease

Abnormality Of Mitochondrial Metabolism

Mitochondrial Diseases

Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1

Mitochondrial Myopathy And Sideroblastic Anemia	MLASA1
Mlasa	Myopathy, Lactic Acidosis And Sideroblastic Anemia
Myopathy With Lactic Acidosis And Sideroblastic Anemia	Sideroblastic Anemia And Mitochondrial Myopathy
Myopathy With Lactic Acidosis And Sideroblastic Anemia 1

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

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 Myopathy

Mitochondrial Myopathies	Mitochondrial Cytopathy
Myopathies In Mitochondrial Disorders

Moebius Syndrome

Mobius Syndrome	Moebius Sequence
Oromandibular-Limb Hypogenesis Spectrum	Congenital Facial Diplegia
MBS	Moebius Congenital Oculofacial Paralysis
Absence Or Underdevelopment Of The 6th And 7th Cranial Nerves	Congenital Facial Diplegia Syndrome
Congenital Oculofacial Paralysis	Congenital Ophthalmoplegia And Facial Paresis
Moebius Spectrum	Möbius Sequence
Möbius Syndrome	Mobius Ii Syndrome

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

Myopathy

Muscular Diseases

Myopathies

Mitochondrial Encephalomyopathy

Mitochondrial Encephalomyopathies

Encephalomyopathy, Mitochondrial

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

Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Melas Syndrome	MELAS
Mitochondrial Encephalomyopathy Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode
Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-Like Episodes	Myopathy, Mitochondrial-Encephalopathy-Lactic Acidosis-Stroke
Mitochondrial Encephalomyopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis And Stroke-Like Episodes	Mitochondrial Encephalomyopathy With Lactic Acidosis And Stroke-Like Episodes Syndrome
Myopathy, Mitochondrial, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes

Leigh Syndrome

Leigh Disease	Infantile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency	LS
Sne	Leigh'S Disease
Leigh Syndrome Due To Mitochondrial Complex I Deficiency	Necrotizing Encephalopathy, Infantile Subacute, Of Leigh
Subacute Necrotizing Encephalomyelopathy	Necrotizing Encephalopathy Infantile Subacute Of Leigh
Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency	Infantile Necrotizing Encephalomyelopathy
Juvenile Subacute Necrotizing Encephalomyelopathy	Leigh'S Necrotizing Encephalopathy
Subacute Necrotizing Encephalopathy	Juvenile Subacute Necrotizing Encephalopathy
Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency	Leigh Syndrome Due To Mitochondrial Complex V Deficiency
Encephalopathy, Subacute Necrotizing, Infantile	Encephalopathy, Subacute Necrotizing, Juvenile
Maternally Inherited Leigh Syndrome	Subacute Necrotising Encephalomyelopathy
Subacute Necrotising Encephalopathy

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-RS12287	RRM2B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	RRM2B	VGNC	VGNC:51781
Macaca mulatta	RRM2B	VGNC	VGNC:77038
Mus musculus	RRM2B	MGD	MGI:2155865
Rattus norvegicus	RRM2B	RGD	RGD:1306045
Felis catus	RRM2B	VGNC	VGNC:64776
Bos taurus	RRM2B	VGNC	VGNC:34166
Others	RRM2B	NCBI