POLR3B - RNA polymerase III subunit B Gene

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

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 55703

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	Referencias	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	Referencias	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	Referencias	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

Pre-clinical Phase

Bioactive Molecules (1)

Referencia número	Nombre del producto	Efecto	Pureza	Rare Diseases
HY-RS10856	POLR3B Human Pre-designed siRNA Set A	Pre-designed Set	/	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
Others	POLR3B	NCBI