POLR2B (RNA polymerase II subunit B) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: POLR2B (RNA polymerase II subunit B) Homo sapiens
Analyze
Symbol: POLR2B
Name: RNA polymerase II subunit B
RGD ID: 1319837
HGNC Page HGNC:9188
Description: Enables DNA-directed 5'-3' RNA polymerase activity and RNA-dependent RNA polymerase activity. Involved in transcription by RNA polymerase II. Located in chromosome, telomeric region and nucleoplasm. Part of RNA polymerase II, core complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 3'-5' exoribonuclease; DNA directed RNA polymerase II 140 kDa polypeptide, RNA polymerase II subunit 2, RNA polymerase II second largest subunit; DNA-directed RNA polymerase II 140 kDa polypeptide; DNA-directed RNA polymerase II subunit B; DNA-directed RNA polymerase II subunit RPB2; hRPB140; hsRPB2; POL2RB; polymerase (RNA) II (DNA directed) polypeptide B, 140kDa; polymerase (RNA) II subunit B; RNA polymerase II second largest subunit; RNA polymerase II subunit 2; RNA polymerase II subunit B2; RNA-directed RNA polymerase II subunit RPB2; RPB2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38456,978,896 - 57,031,158 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl456,977,722 - 57,031,158 (+)EnsemblGRCh38hg38GRCh38
GRCh37457,845,062 - 57,897,324 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36457,539,866 - 57,592,091 (+)NCBINCBI36Build 36hg18NCBI36
Build 34457,686,036 - 57,738,262NCBI
Celera455,351,060 - 55,402,358 (+)NCBICelera
Cytogenetic Map4q12NCBI
HuRef453,798,541 - 53,850,908 (+)NCBIHuRef
CHM1_1457,880,501 - 57,933,190 (+)NCBICHM1_1
T2T-CHM13v2.0460,470,344 - 60,522,595 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
POLR2BHumanTracheoesophageal Fistula  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Tracheoesophageal fistulaClinVarPMID:32641753

1 to 20 of 54 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
POLR2BHuman1,2-dimethylhydrazine multiple interactionsISOPolr2b (Mus musculus)6480464[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of POLR2B mRNACTDPMID:22206623
POLR2BHuman17alpha-ethynylestradiol multiple interactionsISOPolr2b (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLR2B mRNACTDPMID:17942748
POLR2BHuman17beta-estradiol increases expressionEXP 6480464Estradiol results in increased expression of POLR2B mRNACTDPMID:16514628
POLR2BHuman17beta-estradiol decreases expressionISOPolr2b (Mus musculus)6480464Estradiol results in decreased expression of POLR2B mRNACTDPMID:39298647
POLR2BHuman2,2',4,4'-Tetrabromodiphenyl ether affects expressionISOPolr2b (Mus musculus)64804642 more ...CTDPMID:30294300
POLR2BHuman2,3,7,8-tetrachlorodibenzodioxine multiple interactionsISOPolr2b (Mus musculus)6480464[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLR2B mRNACTDPMID:17942748
POLR2BHuman2,3,7,8-tetrachlorodibenzodioxine decreases expressionISOPolr2b (Rattus norvegicus)6480464Tetrachlorodibenzodioxin results in decreased expression of POLR2B mRNACTDPMID:33387578
POLR2BHuman2,4,6-tribromophenol decreases expressionEXP 64804642 more ...CTDPMID:31675489
POLR2BHuman2,6-dinitrotoluene affects expressionISOPolr2b (Rattus norvegicus)64804642 and 6-dinitrotoluene affects the expression of POLR2B mRNACTDPMID:21346803
POLR2BHuman2-bromohexadecanoic acid multiple interactionsEXP 64804642-bromopalmitate inhibits the reaction [[Cadmium Chloride results in increased abundance of Cadmium] which results in increased palmitoylation of POLR2B protein]CTDPMID:38195004
POLR2BHuman3,3',4,4'-tetrachlorobiphenyl multiple interactionsISOPolr2b (Mus musculus)64804643 more ...CTDPMID:19467301
POLR2BHuman4,4'-sulfonyldiphenol decreases expressionISOPolr2b (Mus musculus)6480464bisphenol S results in decreased expression of POLR2B mRNACTDPMID:39298647
POLR2BHumanafimoxifene decreases expressionEXP 6480464afimoxifene results in decreased expression of POLR2B mRNACTDPMID:16514628
POLR2BHumanaristolochic acid A decreases expressionEXP 6480464aristolochic acid I results in decreased expression of POLR2B mRNACTDPMID:33212167
POLR2BHumanarsenite(3-) decreases expressionISOPolr2b (Mus musculus)6480464arsenite results in decreased expression of POLR2B proteinCTDPMID:37955338
POLR2BHumanatrazine decreases expressionEXP 6480464Atrazine results in decreased expression of POLR2B mRNACTDPMID:22378314
POLR2BHumanbenzene increases expressionEXP 6480464Benzene results in increased expression of POLR2B mRNACTDPMID:19162166
POLR2BHumanBenzo[ghi]perylene increases expressionEXP 64804641 and 12-benzoperylene results in increased expression of POLR2B mRNACTDPMID:35182551
POLR2BHumanbis(2-ethylhexyl) phthalate decreases expressionISOPolr2b (Mus musculus)6480464Diethylhexyl Phthalate results in decreased expression of POLR2B mRNACTDPMID:33754040
POLR2BHumanbis(2-ethylhexyl) phthalate increases expressionISOPolr2b (Mus musculus)6480464Diethylhexyl Phthalate results in increased expression of POLR2B mRNACTDPMID:34319233

1 to 20 of 54 rows

Biological Process

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
POLR2BHumanDNA-templated transcription involved_inIEAInterPro:IPR007120 more ...150520179 InterProGO_REF:0000002
POLR2BHumanRNA-templated transcription involved_inIEAGO:0003968150520179 GOCGO_REF:0000108
POLR2BHumantranscription by RNA polymerase II involved_inIDA 150520179 PMID:9852112UniProtPMID:9852112

Cellular Component
1 to 11 of 11 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
POLR2BHumanchromosome, telomeric region located_inIDA 150520179 PMID:24270157BHF-UCLPMID:24270157
POLR2BHumanDNA-directed RNA polymerase complex part_ofIEAUniProtKB-KW:KW-0240150520179 UniProtGO_REF:0000043
POLR2BHumanmembrane located_inHDA 150520179 PMID:19946888UniProtPMID:19946888
POLR2BHumanmitochondrion located_inIEAGO:0006390150520179 GOCGO_REF:0000108
POLR2BHumannucleoplasm located_inTAS 150520179 ReactomeReactome:R-HSA-109638 more ...
POLR2BHumannucleoplasm located_inIDA 150520179 HPAGO_REF:0000052
POLR2BHumannucleus located_inIDA 150520179 PMID:9852112UniProtPMID:9852112
POLR2BHumannucleus located_inIEAUniProtKB-KW:KW-0539150520179 UniProtGO_REF:0000043
POLR2BHumannucleus located_inIEAUniProtKB-SubCell:SL-0191150520179 UniProtGO_REF:0000044
POLR2BHumanRNA polymerase II, core complex part_ofIDA 150520179 PMID:9852112UniProtPMID:9852112
POLR2BHumanRNA polymerase II, core complex part_ofIBAFB:FBgn0262955 more ...150520179 GO_CentralGO_REF:0000033
1 to 11 of 11 rows

Molecular Function
1 to 18 of 18 rows

  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
POLR2BHuman5'-3' RNA polymerase activity enablesIEARHEA:21248150520179 RHEAGO_REF:0000116
POLR2BHumanchromatin binding enablesIEAUniProtKB:Q8CFI7 and ensembl:ENSMUSP00000031167150520179 EnsemblGO_REF:0000107
POLR2BHumanDNA binding enablesTAS 150520179 PMID:1518060PINCPMID:1518060
POLR2BHumanDNA binding enablesIEAInterPro:IPR007120 more ...150520179 InterProGO_REF:0000002
POLR2BHumanDNA-directed RNA polymerase activity enablesIEAInterPro:IPR007120 more ...150520179 InterProGO_REF:0000002
POLR2BHumanDNA-directed RNA polymerase activity contributes_toISSUniProtKB:P08518150520179 FlyBaseGO_REF:0000024
POLR2BHumanDNA-directed RNA polymerase activity enablesIEAEC:2.7.7.6150520179 UniProtGO_REF:0000003
POLR2BHumanDNA-directed RNA polymerase activity enablesIDA 150520179 PMID:23748380 and PMID:9852112UniProtPMID:23748380 and PMID:9852112
POLR2BHumanhydrolase activity enablesIEAUniProtKB-KW:KW-0378150520179 UniProtGO_REF:0000043
POLR2BHumanmetal ion binding enablesIEAUniProtKB-KW:KW-0479150520179 UniProtGO_REF:0000043
POLR2BHumannucleotidyltransferase activity enablesIEAUniProtKB-KW:KW-0548150520179 UniProtGO_REF:0000043
POLR2BHumanprotein binding enablesIPIUniProtKB:Q6UXN9150520179 PMID:17998332UniProtPMID:17998332
POLR2BHumanribonucleoside binding enablesIEAInterPro:IPR015712150520179 InterProGO_REF:0000002
POLR2BHumanRNA binding enablesHDA 150520179 PMID:22658674 and PMID:22681889UniProtPMID:22658674 and PMID:22681889
POLR2BHumanRNA-directed RNA polymerase activity enablesIEAUniProtKB-KW:KW-0696150520179 UniProtGO_REF:0000043
POLR2BHumanRNA-directed RNA polymerase activity enablesIDA 150520179 PMID:23395899UniProtPMID:23395899
POLR2BHumantransferase activity enablesIEAUniProtKB-KW:KW-0808150520179 UniProtGO_REF:0000043
POLR2BHumanzinc ion binding enablesIEAUniProtKB-KW:KW-0863150520179 UniProtGO_REF:0000043
1 to 18 of 18 rows

RGD Manual Annotations


  
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
POLR2BHumanRNA polymerase II transcription pathway   TAS 9588243 RGD 

Imported Annotations - KEGG (archival)

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
POLR2BHumanHuntington's disease pathway   IEA 6907045 KEGGhsa:05016
POLR2BHumanpurine metabolic pathway  IEA 6907045 KEGGhsa:00230
POLR2BHumanpyrimidine metabolic pathway  IEA 6907045 KEGGhsa:00240
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
POLR2BHumanTracheoesophageal fistula  IAGP (Homo sapiens)8554872ClinVar Annotator: match by term: Tracheoesophageal fistulaClinVarPMID:32641753

#
Reference Title
Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. TFIIB-related factors in RNA polymerase I transcription. Knutson BA and Hahn S, Biochim Biophys Acta. 2013 Mar-Apr;1829(3-4):265-73. doi: 10.1016/j.bbagrm.2012.08.003. Epub 2012 Aug 30.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
1 to 10 of 25 rows
PMID:1518060   PMID:1559613   PMID:1939271   PMID:2320128   PMID:2449431   PMID:7638159   PMID:7853496   PMID:8034326   PMID:8619474   PMID:8637904   PMID:8676484   PMID:8876177  
PMID:8910388   PMID:8934526   PMID:8946909   PMID:9054383   PMID:9110174   PMID:9121429   PMID:9184228   PMID:9201987   PMID:9311822   PMID:9315662   PMID:9334327   PMID:9405375  
PMID:9491887   PMID:9570510   PMID:9651670   PMID:9696809   PMID:9852112   PMID:10024883   PMID:10066804   PMID:10069959   PMID:10329125   PMID:10359081   PMID:10364292   PMID:10373521  
PMID:10393184   PMID:10438593   PMID:10536359   PMID:10545121   PMID:10567706   PMID:10617616   PMID:10698937   PMID:10704353   PMID:10725406   PMID:10757782   PMID:10784442   PMID:10866664  
PMID:10931842   PMID:10958691   PMID:11080476   PMID:11112772   PMID:11547919   PMID:11809800   PMID:12049628   PMID:12050112   PMID:12052871   PMID:12089333   PMID:12114499   PMID:12126615  
PMID:12221105   PMID:12226669   PMID:12379213   PMID:12477932   PMID:12634356   PMID:12642036   PMID:12676794   PMID:12775419   PMID:12887902   PMID:14569024   PMID:14702039   PMID:14992727  
PMID:15175163   PMID:15282305   PMID:15489334   PMID:15670829   PMID:15840729   PMID:15886393   PMID:16055720   PMID:16239144   PMID:16289656   PMID:16957778   PMID:17314511   PMID:17353931  
PMID:17494052   PMID:17499043   PMID:17584298   PMID:17643375   PMID:17998332   PMID:18029348   PMID:18562274   PMID:19237606   PMID:19240132   PMID:19270065   PMID:19454010   PMID:20085707  
PMID:20133760   PMID:20211142   PMID:20379614   PMID:20508642   PMID:20516061   PMID:20881960   PMID:21081187   PMID:21145461   PMID:21415862   PMID:21670157   PMID:21729782   PMID:21873635  
PMID:21909106   PMID:22046132   PMID:22268729   PMID:22658674   PMID:22681889   PMID:22863883   PMID:22939629   PMID:22990118   PMID:23087374   PMID:23274668   PMID:23383273   PMID:23395899  
1 to 10 of 25 rows



POLR2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38456,978,896 - 57,031,158 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl456,977,722 - 57,031,158 (+)EnsemblGRCh38hg38GRCh38
GRCh37457,845,062 - 57,897,324 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36457,539,866 - 57,592,091 (+)NCBINCBI36Build 36hg18NCBI36
Build 34457,686,036 - 57,738,262NCBI
Celera455,351,060 - 55,402,358 (+)NCBICelera
Cytogenetic Map4q12NCBI
HuRef453,798,541 - 53,850,908 (+)NCBIHuRef
CHM1_1457,880,501 - 57,933,190 (+)NCBICHM1_1
T2T-CHM13v2.0460,470,344 - 60,522,595 (+)NCBIT2T-CHM13v2.0
Polr2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39577,458,331 - 77,497,175 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl577,457,994 - 77,497,171 (+)EnsemblGRCm39 Ensembl
GRCm38577,310,484 - 77,349,328 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl577,310,147 - 77,349,324 (+)EnsemblGRCm38mm10GRCm38
MGSCv37577,739,509 - 77,778,353 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36578,385,273 - 78,424,099 (+)NCBIMGSCv36mm8
Celera574,577,709 - 74,617,045 (+)NCBICelera
Cytogenetic Map5C3.3NCBI
cM Map541.66NCBI
Polr2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81431,151,534 - 31,189,222 (-)NCBIGRCr8
mRatBN7.21430,797,228 - 30,834,916 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1430,797,228 - 30,834,916 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1431,178,151 - 31,215,766 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01432,486,476 - 32,524,093 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01430,971,132 - 31,008,749 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01433,070,104 - 33,107,792 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1433,070,078 - 33,107,776 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01432,863,627 - 32,901,277 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41433,069,966 - 33,107,615 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11433,069,967 - 33,107,600 (-)NCBI
Celera1430,116,602 - 30,154,129 (-)NCBICelera
Cytogenetic Map14p11NCBI
Polr2b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544714,110,182 - 14,150,556 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495544714,110,182 - 14,150,556 (-)NCBIChiLan1.0ChiLan1.0
POLR2B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2372,744,237 - 72,798,118 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1472,949,670 - 73,003,185 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0466,888,215 - 66,940,702 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1473,462,000 - 73,514,985 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl473,462,000 - 73,514,985 (-)Ensemblpanpan1.1panPan2
POLR2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11349,091,458 - 49,138,413 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1349,090,863 - 49,138,487 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1348,982,054 - 49,028,661 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01349,705,912 - 49,752,974 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1349,705,467 - 49,752,975 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11349,378,679 - 49,425,490 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01348,907,935 - 48,954,761 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01349,852,758 - 49,900,240 (+)NCBIUU_Cfam_GSD_1.0
Polr2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528527,179,024 - 27,225,143 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493648219,073,124 - 19,119,421 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493648219,073,125 - 19,119,424 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLR2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl856,231,789 - 56,285,011 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1856,232,730 - 56,283,367 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2859,014,262 - 59,064,755 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POLR2B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1711,694,446 - 11,736,215 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl711,694,619 - 11,736,611 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606612,273,518 - 12,305,507 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Polr2b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476112,387,553 - 12,430,871 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476112,387,553 - 12,430,211 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

.

.
Variants in POLR2B
32 total Variants

1 to 10 of 54 rows
Name
Type
Condition(s)
Position(s)
Clinical significance
GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3 copy number gain See cases [RCV000050683] Chr4:44356201..62245882 [GRCh38]
Chr4:44358218..63111600 [GRCh37]
Chr4:44052975..62794195 [NCBI36]
Chr4:4p13-q13.1
pathogenic
GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3 copy number gain See cases [RCV000051771] Chr4:51831622..66991489 [GRCh38]
Chr4:52697788..67857207 [GRCh37]
Chr4:52392545..67539802 [NCBI36]
Chr4:4q12-13.2
pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3 copy number gain See cases [RCV000051772] Chr4:51831622..97505618 [GRCh38]
Chr4:52697788..98426769 [GRCh37]
Chr4:52392545..98645792 [NCBI36]
Chr4:4q12-22.3
pathogenic
GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3 copy number gain See cases [RCV000051773] Chr4:51899860..59984479 [GRCh38]
Chr4:52766026..60850197 [GRCh37]
Chr4:52460783..60532792 [NCBI36]
Chr4:4q12-13.1
pathogenic
GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1 copy number loss See cases [RCV000053265] Chr4:52639018..59984479 [GRCh38]
Chr4:53505185..60850197 [GRCh37]
Chr4:53199942..60532792 [NCBI36]
Chr4:4q12-13.1
pathogenic
GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1 copy number loss See cases [RCV000053266] Chr4:54198601..62270115 [GRCh38]
Chr4:55064768..63135833 [GRCh37]
Chr4:54759525..62818428 [NCBI36]
Chr4:4q12-13.1
pathogenic
NM_000938.2(POLR2B):c.1757C>T (p.Thr586Ile) single nucleotide variant Malignant melanoma [RCV000066467] Chr4:57011057 [GRCh38]
Chr4:57877223 [GRCh37]
Chr4:57571980 [NCBI36]
Chr4:4q12
not provided
NM_000938.2(POLR2B):c.3370A>G (p.Ile1124Val) single nucleotide variant Malignant melanoma [RCV000066468] Chr4:57030334 [GRCh38]
Chr4:57896500 [GRCh37]
Chr4:57591257 [NCBI36]
Chr4:4q12
not provided
GRCh38/hg38 4q12(chr4:56248102-57218522)x4 copy number gain See cases [RCV000137649] Chr4:56248102..57218522 [GRCh38]
Chr4:57114268..58084688 [GRCh37]
Chr4:56809025..57779445 [NCBI36]
Chr4:4q12
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
1 to 10 of 54 rows

Predicted Target Of
Summary Value
Count of predictions:831
Count of miRNA genes:519
Interacting mature miRNAs:552
Transcripts:ENST00000314595, ENST00000381227, ENST00000431623, ENST00000433463, ENST00000441246, ENST00000450656, ENST00000464918, ENST00000478188, ENST00000484821, ENST00000495311, ENST00000497845, ENST00000510355
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD ID
Symbol
Name
LOD
P Value
Trait
Sub Trait
Chr
Start
Stop
Species
597105029GWAS1201103_Hbitter alcoholic beverage consumption measurement QTL GWAS1201103 (human)0.000002bitter alcoholic beverage consumption measurementdrink intake measurement (CMO:0000771)45699207156992072Human
597024118GWAS1120192_Hbreast carcinoma QTL GWAS1120192 (human)0.000007mammary gland integrity trait (VT:0010552)45701362657013627Human
597060287GWAS1156361_Hvital capacity QTL GWAS1156361 (human)2e-08vital capacity45702032757020328Human
597065625GWAS1161699_Hcongenital heart disease QTL GWAS1161699 (human)0.000008congenital heart disease45702760457027605Human

SHGC-12841  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,897,272 - 57,897,495UniSTSGRCh37
Build 36457,592,029 - 57,592,252RGDNCBI36
Celera455,402,296 - 55,402,519RGD
Cytogenetic Map4q12UniSTS
HuRef453,850,846 - 53,851,069UniSTS
TNG Radiation Hybrid Map431905.0UniSTS
GeneMap99-G3 RH Map43362.0UniSTS
D4S2603  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37457,890,057 - 57,890,187UniSTSGRCh37
Build 36457,584,814 - 57,584,944RGDNCBI36
Celera455,395,077 - 55,395,207RGD
Cytogenetic Map4q12UniSTS
HuRef453,843,627 - 53,843,757UniSTS
TNG Radiation Hybrid Map431853.0UniSTS
Stanford-G3 RH Map43378.0UniSTS
Whitehead-RH Map4443.3UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4678.9UniSTS




adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4973 1726 2351 6 624 1951 465 2269 7306 6472 53 3734 1 852 1744 1617 175 1


1 to 18 of 18 rows
RefSeq Transcripts NM_000938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001303269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC069307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF055028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK098271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK299090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU619780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC323029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF536006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
1 to 18 of 18 rows

Ensembl Acc Id: ENST00000314595   ⟹   ENSP00000312735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,978,896 - 57,031,158 (+)Ensembl
Ensembl Acc Id: ENST00000381227   ⟹   ENSP00000370625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,977,742 - 57,031,158 (+)Ensembl
Ensembl Acc Id: ENST00000431623   ⟹   ENSP00000391096
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,978,864 - 57,031,158 (+)Ensembl
Ensembl Acc Id: ENST00000433463   ⟹   ENSP00000407728
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,978,896 - 56,990,906 (+)Ensembl
Ensembl Acc Id: ENST00000441246   ⟹   ENSP00000391452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,978,869 - 57,031,007 (+)Ensembl
Ensembl Acc Id: ENST00000450656   ⟹   ENSP00000408638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,977,722 - 56,990,847 (+)Ensembl
Ensembl Acc Id: ENST00000464918
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl457,023,227 - 57,023,751 (+)Ensembl
Ensembl Acc Id: ENST00000478188
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl457,009,559 - 57,031,158 (+)Ensembl
Ensembl Acc Id: ENST00000484821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl457,023,491 - 57,024,962 (+)Ensembl
Ensembl Acc Id: ENST00000495311
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,977,782 - 56,978,961 (+)Ensembl
Ensembl Acc Id: ENST00000497845
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl456,978,904 - 56,986,803 (+)Ensembl
Ensembl Acc Id: ENST00000510355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl457,010,173 - 57,015,658 (+)Ensembl
RefSeq Acc Id: NM_000938   ⟹   NP_000929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,978,896 - 57,031,158 (+)NCBI
GRCh37457,844,944 - 57,897,334 (+)NCBI
Build 36457,539,866 - 57,592,091 (+)NCBI Archive
HuRef453,798,541 - 53,850,908 (+)ENTREZGENE
CHM1_1457,880,198 - 57,933,184 (+)NCBI
T2T-CHM13v2.0460,470,344 - 60,522,595 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303268   ⟹   NP_001290197
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,978,896 - 57,031,158 (+)NCBI
CHM1_1457,880,198 - 57,933,184 (+)NCBI
T2T-CHM13v2.0460,470,344 - 60,522,595 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001303269   ⟹   NP_001290198
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,978,896 - 57,031,158 (+)NCBI
CHM1_1457,880,198 - 57,933,184 (+)NCBI
T2T-CHM13v2.0460,470,344 - 60,522,595 (+)NCBI
Sequence:
RefSeq Acc Id: NP_000929   ⟸   NM_000938
- Peptide Label: isoform 1
- UniProtKB: A8K1A8 (UniProtKB/Swiss-Prot),   Q8IZ61 (UniProtKB/Swiss-Prot),   P30876 (UniProtKB/Swiss-Prot),   B4DHJ3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290198   ⟸   NM_001303269
- Peptide Label: isoform 3
- UniProtKB: B4DHJ3 (UniProtKB/TrEMBL),   C9J2Y9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290197   ⟸   NM_001303268
- Peptide Label: isoform 2
- UniProtKB: B4DH29 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000408638   ⟸   ENST00000450656
Ensembl Acc Id: ENSP00000391452   ⟸   ENST00000441246
Name Modeler Protein Id AA Range Protein Structure
AF-P30876-F1-model_v2 AlphaFold P30876 1-1174 view protein structure

RGD ID:6867538
Promoter ID:EPDNEW_H6934
Type:initiation region
Name:POLR2B_2
Description:RNA polymerase II subunit B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6936  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,977,739 - 56,977,799EPDNEW
RGD ID:6867542
Promoter ID:EPDNEW_H6936
Type:initiation region
Name:POLR2B_1
Description:RNA polymerase II subunit B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6934  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38456,978,896 - 56,978,956EPDNEW
RGD ID:6802535
Promoter ID:HG_KWN:48313
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Jurkat
Transcripts:ENST00000381227,   OTTHUMT00000326506,   OTTHUMT00000326507
Position:
Human AssemblyChrPosition (strand)Source
Build 36457,538,481 - 57,538,981 (+)MPROMDB
RGD ID:6802189
Promoter ID:HG_KWN:48314
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000314595,   OTTHUMT00000326508,   OTTHUMT00000326509,   OTTHUMT00000326510,   OTTHUMT00000326511,   OTTHUMT00000326512
Position:
Human AssemblyChrPosition (strand)Source
Build 36457,539,576 - 57,540,076 (+)MPROMDB
RGD ID:6802537
Promoter ID:HG_KWN:48317
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC003HCM.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36457,569,641 - 57,570,362 (+)MPROMDB
RGD ID:6802538
Promoter ID:HG_KWN:48318
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000326513,   OTTHUMT00000326514
Position:
Human AssemblyChrPosition (strand)Source
Build 36457,584,041 - 57,584,541 (+)MPROMDB


1 to 40 of 54 rows
Database
Acc Id
Source(s)
COSMIC POLR2B COSMIC
Ensembl Genes ENSG00000047315 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000314595 ENTREZGENE
  ENST00000314595.6 UniProtKB/Swiss-Prot
  ENST00000381227.5 UniProtKB/Swiss-Prot
  ENST00000431623 ENTREZGENE
  ENST00000441246 ENTREZGENE
Gene3D-CATH 2.40.270.10 UniProtKB/Swiss-Prot
  2.40.50.150 UniProtKB/Swiss-Prot
  3.90.1070.20 UniProtKB/Swiss-Prot
  3.90.1100.10 UniProtKB/Swiss-Prot
  3.90.1110.10 UniProtKB/Swiss-Prot
  RNA polymerase alpha subunit dimerisation domain UniProtKB/Swiss-Prot
GTEx ENSG00000047315 GTEx
HGNC ID HGNC:9188 ENTREZGENE
Human Proteome Map POLR2B Human Proteome Map
InterPro DNA-dir_RNA_pol_su2 UniProtKB/Swiss-Prot
  DNA-dir_RNAP_su2_dom UniProtKB/Swiss-Prot
  DNA-dir_RNAP_su2_hyb_sf UniProtKB/Swiss-Prot
  RNA_pol_bsu_CS UniProtKB/Swiss-Prot
  RNA_pol_bsu_protrusion UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_2 UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_2_sf UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_3 UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_4 UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_5 UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_7 UniProtKB/Swiss-Prot
  RNA_pol_RPB2_OB-fold UniProtKB/Swiss-Prot
KEGG Report hsa:5431 UniProtKB/Swiss-Prot
NCBI Gene 5431 ENTREZGENE
OMIM 180661 OMIM
PANTHER PTHR20856 UniProtKB/Swiss-Prot
Pfam RNA_pol_Rpb2_1 UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_2 UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_3 UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_4 UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_5 UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_6 UniProtKB/Swiss-Prot
  RNA_pol_Rpb2_7 UniProtKB/Swiss-Prot
PharmGKB PA33508 PharmGKB
1 to 40 of 54 rows


Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 POLR2B  RNA polymerase II subunit B    polymerase (RNA) II subunit B  Symbol and/or name change 5135510 APPROVED
2016-03-07 POLR2B  polymerase (RNA) II subunit B    polymerase (RNA) II (DNA directed) polypeptide B, 140kDa  Symbol and/or name change 5135510 APPROVED