• Gene id: 55703

Gene Summary

• Gene Symbol: POLR3B   Gene   UCSC   Ensembl
• Aliases: C128, HLD8, INMAP, RPC2
• Gene name: RNA polymerase III subunit B
• Alternate names: DNA-directed RNA polymerase III subunit RPC2, DNA-directed RNA polymerase III 127.6 kDa polypeptide, DNA-directed RNA polymerase III subunit B, RNA polymerase III subunit C2, interphase nucleus and mitotic apparatus associated protein, polymerase (RNA) III (DN,
• Gene location: 12q23.3 (106357711: 106510197)     Exons: 30     NC_000012.12
• Gene summary(Entrez): 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
• OMIM: 601501

Protein Summary

• Protein general information: Q9NW08  
  • 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)
  • Length: 1133  
  • Mass: 127785
• Sequence:

  MDVLAEEFGNLTPEQLAAPIPTVEEKWRLLPAFLKVKGLVKQHIDSFNYFINVEIKKIMKANEKVTSDADPMWYL
  KYLNIYVGLPDVEESFNVTRPVSPHECRLRDMTYSAPITVDIEYTRGSQRIIRNALPIGRMPIMLRSSNCVLTGK
  TPAEFAKLNECPLDPGGYFIVKGVEKVILIQEQLSKNRIIVEADRKGAVGASVTSSTHEKKSRTNMAVKQGRFYL
  RHNTLSEDIPIVIIFKAMGVESDQEIVQMIGTEEHVMAAFGPSLEECQKAQIFTQMQALKYIGNKVRRQRMWGGG
  PKKTKIEEARELLASTILTHVPVKEFNFRAKCIYTAVMVRRVILAQGDNKVDDRDYYGNKRLELAGQLLSLLFED
  LFKKFNSEMKKIADQVIPKQRAAQFDVVKHMRQDQITNGMVNAISTGNWSLKRFKMDRQGVTQVLSRLSYISALG
  MMTRISSQFEKTRKVSGPRSLQPSQWGMLCPSDTPEGEACGLVKNLALMTHITTDMEDGPIVKLASNLGVEDVNL
  LCGEELSYPNVFLVFLNGNILGVIRDHKKLVNTFRLMRRAGYINEFVSISTNLTDRCVYISSDGGRLCRPYIIVK
  KQKPAVTNKHMEELAQGYRNFEDFLHESLVEYLDVNEENDCNIALYEHTINKDTTHLEIEPFTLLGVCAGLIPYP
  HHNQSPRNTYQCAMGKQAMGTIGYNQRNRIDTLMYLLAYPQKPMVKTKTIELIEFEKLPAGQNATVAVMSYSGYD
  IEDALVLNKASLDRGFGRCLVYKNAKCTLKRYTNQTFDKVMGPMLDAATRKPIWRHEILDADGICSPGEKVENKQ
  VLVNKSMPTVTQIPLEGSNVPQQPQYKDVPITYKGATDSYIEKVMISSNAEDAFLIKMLLRQTRRPEIGDKFSSR
  HGQKGVCGLIVPQEDMPFCDSGICPDIIMNPHGFPSRMTVGKLIELLAGKAGVLDGRFHYGTAFGGSKVKDVCED
  LVRHGYNYLGKDYVTSGITGEPLEAYIYFGPVYYQKLKHMVLDKMHARARGPRAVLTRQPTEGRSRDGGLRLGEM
  ERDCLIGYGASMLLLERLMISSDAFEVDVCGQCGLLGYSGWCHYCKSSCHVSSLRIPYACKLLFQELQSMNIIPR
  LKLSKYNE

• Structural information:
  • Interpro: IPR015712  IPR007120  IPR037033  IPR007121  IPR007644   IPR007642  IPR037034  IPR007645  IPR007646  IPR007647  IPR007641  IPR014724  
  • Prosite: PS01166
  • CDD: cd00653
  • STRING: ENSP00000228347
• Other Databases: GeneCards:  POLR3B  Malacards:  POLR3B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005666	RNA polymerase III complex	IBA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IBA	contributes to
GO:0045089	positive regulation of innate immune response	IMP	biological process
GO:0032728	positive regulation of interferon-beta production	IMP	biological process
GO:0032549	ribonucleoside binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0006351	transcription, DNA-templated	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051607	defense response to virus	IEA	biological process
GO:0002376	immune system process	IEA	biological process
GO:0016779	nucleotidyltransferase activity	IEA	molecular function
GO:0045087	innate immune response	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003899	DNA-directed 5'-3' RNA polymerase activity	IEA	molecular function
GO:0005666	RNA polymerase III complex	IDA	cellular component
GO:0032481	positive regulation of type I interferon production	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005634	nucleus	IEA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa04623	Cytosolic DNA-sensing pathway
hsa03020	RNA polymerase

Diseases

Associated diseases	References
Hypomyelinating leukodystrophy	KEGG:H00679
Hypomyelinating leukodystrophy	KEGG:H00679
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq