Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	55703
Gene name Gene Name - the full gene name approved by the HGNC.	RNA polymerase III subunit B
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POLR3B
Synonyms (NCBI Gene) Gene synonyms aliases	C128, CMT1I, HLD8, INMAP, RPC2
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q23.3
Summary Summary of gene provided in NCBI Entrez Gene.	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. M

Show/Hide all(16)

SNP ID	Visualize variation	Clinical significance	Consequence
rs138249161	T>A	Pathogenic, likely-pathogenic	Coding sequence variant, missense variant
rs199504211	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267608683	C>A	Pathogenic	Missense variant, coding sequence variant
rs267608684	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs267608685	A>T	Pathogenic	Stop gained, coding sequence variant
rs267608686	A>C,G	Pathogenic	Splice acceptor variant
rs267608687	G>A	Pathogenic	Missense variant, coding sequence variant
rs267608688	C>A,T	Pathogenic	Stop gained, synonymous variant, coding sequence variant
rs747912710	A>G	Pathogenic	Intron variant
rs753943393	G>A	Pathogenic	Splice donor variant
rs755312623	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs774526181	T>C	Likely-pathogenic	Splice donor variant
rs797045895	CTT>-	Likely-pathogenic	Inframe deletion, coding sequence variant
rs1064796907	G>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1158662109	G>A,T	Likely-pathogenic	Splice donor variant
rs1592752356	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant

Show/Hide all(58)

miRTarBase ID	miRNA	Experiments	Reference
MIRT030785	hsa-miR-21-5p	Microarray	18591254
MIRT032193	hsa-let-7b-5p	Proteomics	18668040
MIRT1249174	hsa-miR-1257	CLIP-seq
MIRT1249175	hsa-miR-21	CLIP-seq
MIRT1249176	hsa-miR-3065-3p	CLIP-seq
MIRT1249177	hsa-miR-3163	CLIP-seq
MIRT1249178	hsa-miR-335	CLIP-seq
MIRT1249179	hsa-miR-362-5p	CLIP-seq
MIRT1249180	hsa-miR-410	CLIP-seq
MIRT1249181	hsa-miR-4662a-5p	CLIP-seq
MIRT1249182	hsa-miR-4676-5p	CLIP-seq
MIRT1249183	hsa-miR-4761-5p	CLIP-seq
MIRT1249184	hsa-miR-4765	CLIP-seq
MIRT1249185	hsa-miR-500b	CLIP-seq
MIRT1249186	hsa-miR-501-5p	CLIP-seq
MIRT1249187	hsa-miR-575	CLIP-seq
MIRT1249188	hsa-miR-576-5p	CLIP-seq
MIRT1249189	hsa-miR-590-5p	CLIP-seq
MIRT2073594	hsa-miR-150	CLIP-seq
MIRT1249175	hsa-miR-21	CLIP-seq
MIRT2073595	hsa-miR-2467-5p	CLIP-seq
MIRT1249176	hsa-miR-3065-3p	CLIP-seq
MIRT1249178	hsa-miR-335	CLIP-seq
MIRT2073596	hsa-miR-4310	CLIP-seq
MIRT2073597	hsa-miR-455-3p	CLIP-seq
MIRT2073598	hsa-miR-4713-5p	CLIP-seq
MIRT2073599	hsa-miR-4717-3p	CLIP-seq
MIRT2073600	hsa-miR-532-3p	CLIP-seq
MIRT1249189	hsa-miR-590-5p	CLIP-seq
MIRT1249175	hsa-miR-21	CLIP-seq
MIRT1249176	hsa-miR-3065-3p	CLIP-seq
MIRT1249178	hsa-miR-335	CLIP-seq
MIRT1249179	hsa-miR-362-5p	CLIP-seq
MIRT2073597	hsa-miR-455-3p	CLIP-seq
MIRT2073599	hsa-miR-4717-3p	CLIP-seq
MIRT1249185	hsa-miR-500b	CLIP-seq
MIRT1249186	hsa-miR-501-5p	CLIP-seq
MIRT1249189	hsa-miR-590-5p	CLIP-seq
MIRT1249174	hsa-miR-1257	CLIP-seq
MIRT1249175	hsa-miR-21	CLIP-seq
MIRT1249176	hsa-miR-3065-3p	CLIP-seq
MIRT1249178	hsa-miR-335	CLIP-seq
MIRT1249179	hsa-miR-362-5p	CLIP-seq
MIRT2597397	hsa-miR-4677-3p	CLIP-seq
MIRT2597398	hsa-miR-4679	CLIP-seq
MIRT1249185	hsa-miR-500b	CLIP-seq
MIRT1249186	hsa-miR-501-5p	CLIP-seq
MIRT1249189	hsa-miR-590-5p	CLIP-seq
MIRT1249174	hsa-miR-1257	CLIP-seq
MIRT1249175	hsa-miR-21	CLIP-seq
MIRT1249176	hsa-miR-3065-3p	CLIP-seq
MIRT1249178	hsa-miR-335	CLIP-seq
MIRT1249179	hsa-miR-362-5p	CLIP-seq
MIRT2597397	hsa-miR-4677-3p	CLIP-seq
MIRT2597398	hsa-miR-4679	CLIP-seq
MIRT1249185	hsa-miR-500b	CLIP-seq
MIRT1249186	hsa-miR-501-5p	CLIP-seq
MIRT1249189	hsa-miR-590-5p	CLIP-seq

Show/Hide all(30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000428	Component	DNA-directed RNA polymerase complex	IEA
GO:0002376	Process	Immune system process	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003899	Function	DNA-directed RNA polymerase activity	IDA	34675218
GO:0003899	Function	DNA-directed RNA polymerase activity	IEA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005666	Component	RNA polymerase III complex	IBA
GO:0005666	Component	RNA polymerase III complex	IDA	24107381, 33335104, 34675218
GO:0005737	Component	Cytoplasm	IDA	33335104
GO:0005737	Component	Cytoplasm	IEA
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006351	Process	DNA-templated transcription	IEA
GO:0006383	Process	Transcription by RNA polymerase III	IEA
GO:0008270	Function	Zinc ion binding	IDA	34675218
GO:0008270	Function	Zinc ion binding	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0032549	Function	Ribonucleoside binding	IEA
GO:0032728	Process	Positive regulation of interferon-beta production	IMP	19609254
GO:0034062	Function	5'-3' RNA polymerase activity	IEA
GO:0042796	Process	SnRNA transcription by RNA polymerase III	IDA	35637192
GO:0045087	Process	Innate immune response	IEA
GO:0045089	Process	Positive regulation of innate immune response	IMP	19609254
GO:0046872	Function	Metal ion binding	IEA
GO:0051607	Process	Defense response to virus	IEA
GO:0055029	Component	Nuclear DNA-directed RNA polymerase complex	IEA
GO:0071667	Function	DNA/RNA hybrid binding	IDA	34675218
GO:0071667	Function	DNA/RNA hybrid binding	IEA

MIM	HGNC	e!Ensembl
614366	30348	ENSG00000013503

Protein

UniProt ID

Q9NW08

Protein name

DNA-directed RNA polymerase III subunit RPC2 (RNA polymerase III subunit C2) (EC 2.7.7.6) (C128) (DNA-directed RNA polymerase III 127.6 kDa polypeptide) (DNA-directed RNA polymerase III subunit B)

Protein function

Catalytic core component of RNA polymerase III (Pol III), a DNA-dependent RNA polymerase which synthesizes small non-coding RNAs using the four ribonucleoside triphosphates as substrates. Synthesizes 5S rRNA, snRNAs, tRNAs and miRNAs from at lea

PDB

7A6H , 7AE1 , 7AE3 , 7AEA , 7AST , 7D58 , 7D59 , 7DN3 , 7DU2 , 7FJI , 7FJJ , 8ITY , 8IUE , 8IUH , 9FSO , 9FSP , 9FSQ , 9FSR , 9FSS

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04563	RNA_pol_Rpb2_1	38 → 413	RNA polymerase beta subunit	Family
PF04561	RNA_pol_Rpb2_2	185 → 363	RNA polymerase Rpb2, domain 2	Domain
PF04565	RNA_pol_Rpb2_3	438 → 502	RNA polymerase Rpb2, domain 3	Domain
PF04566	RNA_pol_Rpb2_4	539 → 600	RNA polymerase Rpb2, domain 4	Domain
PF04567	RNA_pol_Rpb2_5	621 → 661	RNA polymerase Rpb2, domain 5	Domain
PF00562	RNA_pol_Rpb2_6	668 → 1041	RNA polymerase Rpb2, domain 6	Domain
PF04560	RNA_pol_Rpb2_7	1043 → 1129	RNA polymerase Rpb2, domain 7	Domain

Sequence

MDVLAEEFGNLTPEQLAAPIPTVEEKWRLLPAFLKVKGLVKQHIDSFNYFINVEIKKIMK
ANEKVTSDADPMWYLKYLNIYVGLPDVEESFNVTRPVSPHECRLRDMTYSAPITVDIEYT
RGSQRIIRNALPIGRMPIMLRSSNCVLTGKTPAEFAKLNECPLDPGGYFIVKGVEKVILI
QEQLSKNRIIVEADRKGAVGASVTSSTHEKKSRTNMAVKQGRFYLRHNTLSEDIPIVIIF
KAMGVESDQEIVQMIGTEEHVMAAFGPSLEECQKAQIFTQMQALKYIGNKVRRQRMWGGG
PKKTKIEEARELLASTILTHVPVKEFNFRAKCIYTAVMVRRVILAQGDNKVDDRDYYGNK
RLELAGQLLSLLFEDLFKKFNSEMKKIADQVIPKQRAAQFDVVKHMRQDQITNGMVNAIS
TGNWSLKRFKMDRQGVTQVLSRLSYISALGMMTRISSQFEKTRKVSGPRSLQPSQWGMLC
PSDTPEGEACGLVKNLALMTHITTDMEDGPIVKLASNLGVEDVNLLCGEELSYPNVFLVF
LNGNILGVIRDHKKLVNTFRLMRRAGYINEFVSISTNLTDRCVYISSDGGRLCRPYIIVK
KQKPAVTNKHMEELAQGYRNFEDFLHESLVEYLDVNEENDCNIALYEHTINKDTTHLEIE
PFTLLGVCAGLIPYPHHNQSPRNTYQCAMGKQAMGTIGYNQRNRIDTLMYLLAYPQKPMV
KTKTIELIEFEKLPAGQNATVAVMSYSGYDIEDALVLNKASLDRGFGRCLVYKNAKCTLK
RYTNQTFDKVMGPMLDAATRKPIWRHEILDADGICSPGEKVENKQVLVNKSMPTVTQIPL
EGSNVPQQPQYKDVPITYKGATDSYIEKVMISSNAEDAFLIKMLLRQTRRPEIGDKFSSR
HGQKGVCGLIVPQEDMPFCDSGICPDIIMNPHGFPSRMTVGKLIELLAGKAGVLDGRFHY
GTAFGGSKVKDVCEDLVRHGYNYLGKDYVTSGITGEPLEAYIYFGPVYYQKLKHMVLDKM
HARARGPRAVLTRQPTEGRSRDGGLRLGEMERDCLIGYGASMLLLERLMISSDAFEVDVC
GQCGLLGYSGWCHYCKSSCHVSSLRIPYACKLLFQELQSMNIIPRLKLSKYNE

Sequence length

1133

Interactions

View interactions

	KEGG		Reactome
	RNA polymerase Cytosolic DNA-sensing pathway		Cytosolic sensors of pathogen-associated DNA RNA Polymerase III Transcription Initiation From Type 1 Promoter RNA Polymerase III Transcription Initiation From Type 2 Promoter RNA Polymerase III Transcription Initiation From Type 3 Promoter

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Hypogonadotropic Hypogonadism	hypogonadotropic hypogonadism	rs138249161	N/A
Hypomyelinating Leukodystrophy WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM	Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism	rs753943393, rs267608684, rs2037839447, rs138249161, rs267608685, rs797045895, rs755312623, rs775141057, rs267608686, rs1057520785, rs267608688, rs747912710, rs267608689, rs267608683	N/A
Charcot-Marie-Tooth disease	Charcot-Marie-Tooth disease, demyelinating, IIA 1I	rs747912710	N/A

Show/Hide Unknown Diseases (7)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Endosteal Sclerosis-Cerebellar Hypoplasia Syndrome	endosteal sclerosis-cerebellar hypoplasia syndrome	N/A	N/A	GenCC
Glioblastoma	Glioblastoma	N/A	N/A	GWAS
Glioma	Glioma	N/A	N/A	GWAS
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	N/A	N/A	GenCC
Leukodystrophy	leukodystrophy	N/A	N/A	ClinVar
Neurodevelopmental Disorders	neurodevelopmental disorder	N/A	N/A	GenCC
Tourette Syndrome	Tourette syndrome	N/A	N/A	GWAS

Show/Hide Text Mining Associations (47)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Agenesis of Corpus Callosum	Associate	22036171, 27029625
Alzheimer Disease	Associate	25311278
Anodontia	Associate	25339210, 33005949, 34666706
Asthma	Associate	39217320
Ataxia	Associate	32319736, 33417887, 35482004
Autistic Disorder	Associate	31969655
Cataract	Associate	26478204
Cerebellar Diseases	Associate	22036172, 26204956, 27029625, 35482004
Charcot Marie Tooth Disease	Associate	35482004
Charcot Marie Tooth disease Type 4A	Associate	34666706, 35482004
Chemical and Drug Induced Liver Injury	Associate	38079352
Cognition Disorders	Associate	35436926, 35482004
Craniofacial Abnormalities	Associate	35436926, 37197783
Deafness oligodontia syndrome	Associate	22036172
Demyelinating Diseases	Associate	22036171, 25339210, 26478204, 27029625, 29618326, 33417887, 34666706, 35482004
Developmental Disabilities	Associate	32319736
Dwarfism Pituitary	Associate	26204956
Elejalde Disease	Associate	31089205
Epilepsy	Associate	31969655, 33417887, 35482004
Gait Disorders Neurologic	Associate	26204956
Graves Ophthalmopathy	Associate	37884559
Hypogonadism	Associate	22036172, 25339210, 26204956, 27512013, 33005949, 34666706, 36042647
Idiopathic Hypogonadotropic Hypogonadism	Associate	27512013
Intellectual Disability	Associate	26204956, 32319736, 33417887, 35436926, 35482004
Language Disorders	Associate	26204956
Learning Disabilities	Associate	26204956
Leukodystrophy Hypomyelinating 5	Associate	29618326
Leukodystrophy Hypomyelinating with Hypodontia and Hypogonadotropic Hypogonadism	Associate	25339210, 26045207, 26204956, 26478204, 27512013, 28589944, 29618326, 32319736, 33005949, 36042647
Leukodystrophy Metachromatic	Associate	25339210, 26045207, 26204956, 26478204, 28051070, 31368241, 33005949, 33417887, 36042647, 36451185, 37197783, 40176224
Leukoencephalopathies	Associate	22036171
Lung Neoplasms	Associate	31826912
Muscle Spasticity	Associate	33417887, 35482004
Myopia	Associate	29346494, 36042647
Nonsyndromic Deafness	Associate	29346494
Pelizaeus Merzbacher like disease autosomal recessive 2	Associate	22036172, 33417887, 34666706, 35482004, 40176224
Peripheral Nervous System Diseases	Associate	33417887, 35482004
Plagiocephaly and X linked mental retardation	Associate	35436926
Polymicrogyria	Associate	26478204
Polyradiculoneuropathy	Associate	34666706
Progeria	Associate	34289880
Progeroid syndrome neonatal	Associate	34289880
Refractive Errors	Associate	29346494
Respiratory Insufficiency	Associate	35482004
RNA Virus Infections	Associate	31438894
Rufous oculocutaneous albinism	Associate	31368241
Spinal Cord Diseases	Associate	35482004
Tooth Abnormalities	Associate	36042647

POLR3B (RNA polymerase III subunit B)