POLR3B - RNA polymerase III subunit B Gene

Homo sapiens

Also known as C128; HLD8; RPC2; CMT1I; INMAP

Gene ID: 55703 | Gene type: protein coding

About POLR3B

Cytogenetic location: 12q23.3 Genomic coordinates (GRCh38): 12:106,357,748-106,510,198 (from NCBI)

This gene has 4 transcripts (splice variants), 214 orthologues, 2 paralogues and is associated with 8 phenotypes. Ubiquitous expression in esophagus (RPKM 2.4), thyroid (RPKM 2.3) and 25 other tissues.

Summary

This gene encodes the second largest subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The largest subunit and the encoded protein form the catalytic center of RNA polymerase III. Mutations in this gene are a cause of hypomyelinating leukodystrophy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Dec 2011]

POLR3B Products(2)

mRNA	Protein	Name
NM_001160708.2	NP_001154180.1	DNA-directed RNA polymerase III subunit RPC2 isoform 2
NM_018082.6	NP_060552.4	DNA-directed RNA polymerase III subunit RPC2 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA-directed 5'-3' RNA polymerase activity	IDA IDA: Inferred from direct assay	34675218	GOA
enables DNA/RNA hybrid binding	IDA IDA: Inferred from direct assay	34675218	GOA
enables zinc ion binding	IDA IDA: Inferred from direct assay	34675218	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in positive regulation of innate immune response	IMP IMP: Inferred from mutant phenotype	19609254	GOA
involved in positive regulation of interferon-beta production	IMP IMP: Inferred from mutant phenotype	19609254	GOA
involved in snRNA transcription by RNA polymerase III	IDA IDA: Inferred from direct assay	35637192	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of RNA polymerase III complex	IDA IDA: Inferred from direct assay	24107381	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	33335104	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

POLR3B Protein Structure

RNA_pol_Rpb2_1

RNA_pol_Rpb2_2

RNA_pol_Rpb2_3

RNA_pol_Rpb2_4

RNA_pol_Rpb2_5

RNA_pol_Rpb2_6

RNA_pol_Rpb2_7

0
200
400
600
800
1000
1133 a.a.

Protein Preferred Names

Protein Names

DNA-directed RNA polymerase III subunit RPC2

DNA-directed RNA polymerase III 127.6 kDa polypeptide

Related Diseases

Diseases

Alias

Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

Hypomyelinating Leukodystrophy 8 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism	HLD8
Cerebellar Hypoplasia With Endosteal Sclerosis	4h Leukodystrophy 2
Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome	Leukodystrophy, Hypomyelinating, Type 8, With/Without Oligodontia And/Or Hypogonadotropic Hypogonadism

Charcot-Marie-Tooth Disease, Demyelinating, Type 1i

Charcot-Marie-Tooth Neuropathy, Type 1i	CMT1I
Charcot-Marie-Tooth Disease, Demyelinating, 1i

Polr3-Related Leukodystrophy

Pol Iii-Related Leukodystrophy	4h Syndrome
4h Leukodystrophy	Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Pol Iii Disorder	Pol Iii-Related Hypomyelinating Leukodystrophies
Ribonucleic Acid Polymerase Iii-Related Leukodystrophy	Dentoleukoencephalopathy
Leukodystrophy With Oligodontia	Odontoleukodystrophy
Hypomyelinating Leukodystrophy With Or Without Oligondontia And/Or Hypogonadism	Addh
Ataxia, Delayed Dentition, And Hypomyelination	Hcahc
Hld7	Hld8
Hypomyelination With Cerebellar Atrophy And Hypoplasia Of The Corpus Callosum	Hypomyelination, Hypodontia, Hypogonadotropic Hypogonadism
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination	Lo
Tach	Tremor-Ataxia With Central Hypomyelination
Polr-Related Leukodystrophy

Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism

HLD7	Leukoencephalopathy-Ataxia-Hypodontia-Hypomyelination Syndrome
Addh	Leukodystrophy, Hypomyelinating, With Hypodontia And Hypogonadotropic Hypogonadism
4h Syndrome	4h Leukodystrophy 1
Hypomyelinating Leukodystrophy 7 With Or Without Oligodontia And-Or Hypogonadotropic Hypogonadism	Hypomyelination-Cerebellar Atrophy-Hypoplasia Of The Corpus Callosum Syndrome
Leukodystrophy With Oligodontia	Tach Syndrome
Tremor-Ataxia-Central Hypomyelination Syndrome	Leukoencephalopathy, Hypomyelinating, With Ataxia And Delayed Dentition
Ataxia, Delayed Dentition, And Hypomyelination	Ataxia-Delayed Dentition-Hypomyelination Syndrome
Odontoleukodystrophy	Dentoleukoencephalopathy
Hypomyelinating Leukodystrophy-Ataxia-Hypodontia-Hypomyelination Syndrome	Ataxia-Delayed Dentition-Hypomyelination Syndrome
Ataxia Delayed Dentition And Hypomyelination	Leukodystrophy Hypomyelinating With Hypodontia And Hypogonadotropic Hypogonadism 4h Syndrome
Leukoencephalopathy Hypomyelinating With Ataxia And Delayed Dentition	Tach
Tremor-Ataxia With Central Hypomyelination	Attention Deficit Hyperactivity Disorder
Leukodystrophy, Dysmyelinating, With Oligodontia

Hypogonadotropic Hypogonadism 7 With Or Without Anosmia

Idiopathic Hypogonadotropic Hypogonadism	HH7
Hypogonadism, Isolated Hypogonadotropic	Ihh
Hypogonadism, Isolated, Hypogonadotropic	Hypogonadotropic Hypogonadism
Isolated Hypogonadotropic Hypogonadism	Hypogonadotropic Hypogonadism 7 Without Anosmia
Congenital Hypogonadotropic Hypogonadism Normosmic	Hh
Klinefelter Syndrome	Isolated Gonadotropin Deficiency

Leukodystrophy

Leukodystrophies

Hypomyelinating Leukodystrophy

Hld	Leukodystrophy, Hypomyelinating

Hypogonadotropic Hypogonadism

Klinefelter Syndrome	Klinefelter'S Syndrome
Xxy Syndrome	Xxy Trisomy
Hypogonadotropism	47, Xxy
Congenital Idiopathic Hypogonadotropic Hypogonadism	Isolated Congenital Gonadotropin Deficiency
47,Xxy Syndrome	47, Xxy Syndrome
Klinefelters Syndrome	Hypogonadism
Klinefelter Syndrome In Males	Klinefelter Syndrome, Unspecified
Klinefelter Syndrome Karyotype 47, Xxy

Hypogonadism

Leukodystrophy, Hypomyelinating, 13

Hypomyelinating Leukodystrophy 13	HLD13
C11orf73-Related Autosomal Recessive Hypomyelinating Leukodystrophy	C11orf73-Related Autosomal Recessive Hypomyelinating Leukoencephalopathy
Hypomyelinating Leukodystrophy Due To Hikeshi Deficiency

Hypomyelinating Leukoencephalopathy

Cerebellofaciodental Syndrome

Cerebellar-Facial-Dental Syndrome

CFDS

Cerebrooculofacioskeletal Syndrome 2

COFS2	Cerebro-Oculo-Facio-Skeletal Syndrome 2
Cofs Syndrome

Leukodystrophy, Hypomyelinating, 11

Hypomyelinating Leukodystrophy 11	HLD11
4h Leukodystrophy 3	Leukodystrophy, Hypomyelinating, Type 11

Spastic Ataxia 8

Leukodystrophy, Hypomyelinating, 10

Hypomyelinating Leukodystrophy 10	HLD10
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Leukodystrophy, Hypomyelinating, Type 10

Leukodystrophy, Hypomyelinating, 9

Hypomyelinating Leukodystrophy 9	HLD9
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Leukodystrophy, Hypomyelinating, Type 9

Leukodystrophy, Hypomyelinating, 6

Habc	Hypomyelinating Leukodystrophy 6
HLD6	H-Abc
Hypomyelination With Atrophy Of Basal Ganglia And Cerebellum	Leukodystrophy, Hypomyelinating, With Atrophy Of The Basal Ganglia And Cerebellum
Hypomyelinating Leukodystrophy With Atrophy Of The Basal Ganglia And Cerebellum	HLD
Leukodystrophy, Hypomyelinating, Type 6

Boucher-Neuhauser Syndrome

Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome	BNHS
Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy	Boucher-Neuhäuser Syndrome
Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism	Ataxia - Hypogonadism - Choroidal Dystrophy
Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism	Bns
Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome	Boucher Neuhauser Syndrome

Cerebral Degeneration

Brain Degeneration

Degenerative Brain Disorder

Tooth Disease

Tooth Diseases	Teeth Disease
Tooth Disorders

Gordon Holmes Syndrome

Cerebellar Ataxia And Hypogonadotropic Hypogonadism	Lhrh Deficiency And Ataxia
Cerebellar Ataxia-Hypogonadism Syndrome	GDHS
Cahh	Luteinizing Hormone-Releasing Hormone Deficiency With Ataxia
Gordon-Holmes Syndrome	Deficiency Of Luteinizing Hormone-Releasing Hormone With Ataxia
Luteinizing Hormone-Releasing Hormone, Deficiency Of, With Ataxia	Cerebellar Ataxia - Hypogonadism
Luteinizing Hormone Releasing Hormone, Deficiency Of With Ataxia	Ataxia, Cerebellar, And Hypogonadotropic Hypogonadism

Spastic Ataxia 4

Tooth Agenesis

Oligodontia	Hypodontia
Selective Tooth Agenesis	Tooth Agenesis, Selective
Familial Tooth Agenesis	Anodontia
Congenital Absence Of One Tooth

Pelizaeus-Merzbacher Disease

PMD	HLD1
Pelizaeus-Merzbacher Brain Sclerosis	Leukodystrophy, Hypomyelinating, 1
Diffuse Familial Brain Sclerosis	Pelizaeus Merzbacher Brain Sclerosis
Sudanophilic Leukodystrophy, Paelizeus-Merzbacher Type	Cockayne-Pelizaeus-Merzbacher Disease
Hypomyelinating Leukodystrophy 1	Leukodystrophy, Sudanophilic
Pelizaeus Merzbacher Disease	Hypomyelinating Leukodystrophy, 1
Sudanophilic Leukodystrophy	Pelizaeus-Merzbacher Disease, Connatal Form
Connatal Pmd	Pelizaeus-Merzbacher Disease Type Ii
Severe Pmd	Null Syndrome
Plp1 Null Syndrome	Pelizaeus-Merzbacher Disease, Null Syndrome
Brain Sclerosis Diffuse Familial	Sudanophilic Leukodystrophy Paelizeus-Merzbacher Type
Leukodystrophy Hypomyelinating 1	Diffuse Cerebral Sclerosis Of Schilder

Leukoencephalopathy With Vanishing White Matter

Cree Leukoencephalopathy	Vanishing White Matter Disease
Ovarioleukodystrophy	Vanishing White Matter Leukodystrophy
Childhood Ataxia With Central Nervous System Hypomyelinization	Cach
Cach Syndrome	Myelinosis Centralis Diffusa
VWM	Cle
Childhood Ataxia With Central Nervous System Hypomyelination	Childhood Ataxia With Diffuse Central Nervous System Hypomyelination
Cach/Vwm	Cach/Vwm Syndrome
Childhood Ataxia With Central Nervous System Hypomyelination/Vanishing White Matter	Cree Leukoencehalopathy
Late Infantile Cach Syndrome	Juvenile Or Adult Cach Syndrome
Congenital Or Early Infantile Cach Syndrome	Leukodystrophy With Vanishing White Matter

Charcot-Marie-Tooth Disease

Cmt	Hmsn
Hereditary Motor And Sensory Neuropathy	Pma
Cmt - Charcot-Marie-Tooth Disease	Charcot Marie Tooth Disease
Charcot-Marie-Tooth Hereditary Neuropathy	Charcot-Marie-Tooth Syndrome
Peroneal Muscular Atrophy	Hereditary Motor And Sensory Neuropathies

Dystonia 11, Myoclonic

Myoclonic Dystonia	Myoclonus-Dystonia Syndrome
DYT11	Myoclonic Dystonia 11
Alcohol-Responsive Dystonia	Myoclonus, Hereditary Essential
Dystonia-11, Myoclonic	Myoclonus-Dystonia
Dystonia 11	Hereditary Essential Myoclonus
Dystonia, Alcohol-Responsive	Dyt-Sgce
Dystonia, Alcohol Responsive	Dystonia-11
Dystonia, Myoclonic	Dystonia, Myoclonic, Type 11

Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease

Pcwh Syndrome	PCWH
Neurologic Waardenburg-Shah Syndrome	Waardenburg-Shah Syndrome, Neurologic Variant
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Hirschsprung Disease-Waardenburg Syndrome	Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ws4 Plus	Peripheral Demyelinating Neuropathy, Central Dysmyelinating Leukodystrophy, Waardenburg Syndrome And Hirschsprung Disease
Waardenburg-Shah Syndrome Neurologic Variant

Spastic Ataxia

Spax	Ataxia, Spastic

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-RS10856	POLR3B Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	POLR3B	VGNC	VGNC:76143
Canis familiaris	POLR3B	VGNC	VGNC:44801
Mus musculus	POLR3B	MGD	MGI:1917678
Bos taurus	POLR3B	VGNC	VGNC:33146
Rattus norvegicus	POLR3B	RGD	RGD:1565311
Felis catus	POLR3B	VGNC	VGNC:64290