POLR2B (RNA polymerase II subunit B) - Rat Genome Database
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Gene: POLR2B (RNA polymerase II subunit B) Homo sapiens
Analyze
Symbol: POLR2B
Name: RNA polymerase II subunit B
RGD ID: 1319837
Description: Exhibits RNA binding activity. Predicted to contribute to DNA-directed 5'-3' RNA polymerase activity. Involved in transcription by RNA polymerase II. Localizes to RNA polymerase II, core complex. Colocalizes with nuclear chromosome, telomeric region.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 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; RPB2
Orthologs:
Mus musculus (house mouse) : Polr2b (polymerase (RNA) II (DNA directed) polypeptide B)  MGI  Alliance
Rattus norvegicus (Norway rat) : Polr2b (RNA polymerase II subunit B)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Polr2b (RNA polymerase II subunit B)
Pan paniscus (bonobo/pygmy chimpanzee) : POLR2B (RNA polymerase II subunit B)
Canis lupus familiaris (dog) : POLR2B (RNA polymerase II subunit B)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Polr2b (RNA polymerase II subunit B)
Sus scrofa (pig) : POLR2B (RNA polymerase II subunit B)
Chlorocebus sabaeus (African green monkey) : POLR2B (RNA polymerase II subunit B)
Heterocephalus glaber (naked mole-rat) : Polr2b (RNA polymerase II subunit B)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl456,977,722 - 57,031,158 (+)EnsemblGRCh38hg38GRCh38
GRCh38456,978,896 - 57,031,158 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37457,844,944 - 57,897,334 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36457,539,866 - 57,592,091 (+)NCBINCBI36hg18NCBI36
Build 34457,686,036 - 57,738,262NCBI
Celera455,351,060 - 55,402,358 (+)NCBI
Cytogenetic Map4q12NCBI
HuRef453,798,541 - 53,850,908 (+)NCBIHuRef
CHM1_1457,880,198 - 57,933,184 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1518060   PMID:1559613   PMID:1939271   PMID:2190099   PMID:2320128   PMID:2449431   PMID:7638159   PMID:7853496   PMID:8034326   PMID:8619474   PMID:8637904   PMID:8676484  
PMID:8800208   PMID:8849451   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:9765201   PMID:9852112   PMID:9874563   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:16838299   PMID:16957778   PMID:17168834   PMID:17314511   PMID:17353931   PMID:17376917   PMID:17494052   PMID:17499043   PMID:17584298   PMID:17643375  
PMID:17661632   PMID:17998332   PMID:18029348   PMID:18209063   PMID:18218627   PMID:18562274   PMID:18991615   PMID:19237606   PMID:19240132   PMID:19270065   PMID:19454010   PMID:19526283  
PMID:20085707   PMID:20133760   PMID:20211142   PMID:20227660   PMID:20379614   PMID:20471948   PMID:20508642   PMID:20516061   PMID:20881960   PMID:21081187   PMID:21145461   PMID:21360054  
PMID:21415862   PMID:21670157   PMID:21729782   PMID:21873635   PMID:21909106   PMID:21972559   PMID:22046132   PMID:22211660   PMID:22229121   PMID:22268729   PMID:22421880   PMID:22422068  
PMID:22567366   PMID:22658674   PMID:22681889   PMID:22863883   PMID:22939629   PMID:22990118   PMID:23028129   PMID:23087374   PMID:23274668   PMID:23383273   PMID:23416138   PMID:23455922  
PMID:23602568   PMID:23752268   PMID:23827503   PMID:24163370   PMID:24217245   PMID:24270157   PMID:24330569   PMID:24359561   PMID:24457600   PMID:24550385   PMID:24711643   PMID:24778252  
PMID:25281560   PMID:25429064   PMID:25437307   PMID:25544563   PMID:25693804   PMID:25921289   PMID:26030138   PMID:26186194   PMID:26318153   PMID:26344197   PMID:26496610   PMID:26655721  
PMID:26673895   PMID:26777405   PMID:26972000   PMID:27025967   PMID:27049334   PMID:27235625   PMID:27320910   PMID:27375898   PMID:27432908   PMID:27609421   PMID:27684187   PMID:27880917  
PMID:28242625   PMID:28514442   PMID:28515276   PMID:28561026   PMID:28700933   PMID:28700943   PMID:28718761   PMID:29117863   PMID:29229926   PMID:29331416   PMID:29395067   PMID:29467282  
PMID:29507755   PMID:29509190   PMID:29563501   PMID:29564676   PMID:29568061   PMID:29721183   PMID:29795372   PMID:29884807   PMID:29911972   PMID:29955894   PMID:29991511   PMID:30033366  
PMID:30196744   PMID:30258100   PMID:30344098   PMID:30349055   PMID:30404004   PMID:30463901   PMID:30508113   PMID:30804502   PMID:30833792   PMID:30948266   PMID:31048545   PMID:31073040  
PMID:31091453   PMID:31180492   PMID:31527615   PMID:31586073   PMID:31685992   PMID:31753913   PMID:31980649   PMID:32203420   PMID:32694731   PMID:32877691  


Genomics

Comparative Map Data
POLR2B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl456,977,722 - 57,031,158 (+)EnsemblGRCh38hg38GRCh38
GRCh38456,978,896 - 57,031,158 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37457,844,944 - 57,897,334 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36457,539,866 - 57,592,091 (+)NCBINCBI36hg18NCBI36
Build 34457,686,036 - 57,738,262NCBI
Celera455,351,060 - 55,402,358 (+)NCBI
Cytogenetic Map4q12NCBI
HuRef453,798,541 - 53,850,908 (+)NCBIHuRef
CHM1_1457,880,198 - 57,933,184 (+)NCBICHM1_1
Polr2b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39577,458,331 - 77,497,175 (+)NCBI
GRCm38577,310,484 - 77,349,328 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl577,310,147 - 77,349,324 (+)EnsemblGRCm38mm10GRCm38
MGSCv37577,739,509 - 77,778,353 (+)NCBIGRCm37mm9NCBIm37
MGSCv36578,385,273 - 78,424,099 (+)NCBImm8
Celera574,577,709 - 74,617,045 (+)NCBICelera
Cytogenetic Map5C3.3NCBI
Polr2b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
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 (-)NCBIRGSC3.4rn4RGSC3.4
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
PanPan1.1473,462,000 - 73,514,985 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl473,462,000 - 73,514,985 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0466,888,215 - 66,940,702 (-)NCBIMhudiblu_PPA_v0panPan3
POLR2B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl1349,090,863 - 49,138,487 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.11349,091,458 - 49,138,413 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Polr2b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493648219,073,125 - 19,119,424 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLR2B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl856,231,771 - 56,285,014 (+)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 - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl711,694,619 - 11,736,611 (-)Ensembl
ChlSab1.1711,694,446 - 11,736,215 (-)NCBI
Polr2b
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462476112,387,553 - 12,430,211 (-)NCBI

Position Markers
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

miRNA Target Status

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2430 2590 1645 548 1688 390 4355 2074 3255 394 1442 1607 173 1 1203 2788 5
Low 9 401 81 76 263 75 1 123 479 25 18 6 2 1 1 2
Below cutoff

Sequence

Nucleotide Sequences
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
  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

Reference Sequences
RefSeq Acc Id: ENST00000314595   ⟹   ENSP00000312735
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,978,896 - 57,031,158 (+)Ensembl
RefSeq Acc Id: ENST00000381227   ⟹   ENSP00000370625
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,977,742 - 57,031,158 (+)Ensembl
RefSeq Acc Id: ENST00000431623   ⟹   ENSP00000391096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,978,864 - 57,031,158 (+)Ensembl
RefSeq Acc Id: ENST00000433463   ⟹   ENSP00000407728
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,978,896 - 56,990,906 (+)Ensembl
RefSeq Acc Id: ENST00000441246   ⟹   ENSP00000391452
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,978,869 - 57,031,007 (+)Ensembl
RefSeq Acc Id: ENST00000450656   ⟹   ENSP00000408638
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,977,722 - 56,990,847 (+)Ensembl
RefSeq Acc Id: ENST00000464918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl457,023,227 - 57,023,751 (+)Ensembl
RefSeq Acc Id: ENST00000478188
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl457,009,559 - 57,031,158 (+)Ensembl
RefSeq Acc Id: ENST00000484821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl457,023,491 - 57,024,962 (+)Ensembl
RefSeq Acc Id: ENST00000495311
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,977,782 - 56,978,961 (+)Ensembl
RefSeq Acc Id: ENST00000497845
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl456,978,904 - 56,986,803 (+)Ensembl
RefSeq Acc Id: ENST00000510355
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
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
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
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000929   ⟸   NM_000938
- Peptide Label: isoform 1
- UniProtKB: P30876 (UniProtKB/Swiss-Prot),   B4DH29 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290198   ⟸   NM_001303269
- Peptide Label: isoform 3
- UniProtKB: P30876 (UniProtKB/Swiss-Prot),   B4DH29 (UniProtKB/TrEMBL),   B4DHJ3 (UniProtKB/TrEMBL),   C9J2Y9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001290197   ⟸   NM_001303268
- Peptide Label: isoform 2
- UniProtKB: P30876 (UniProtKB/Swiss-Prot),   A0A1W2PPT5 (UniProtKB/TrEMBL),   B4DH29 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000408638   ⟸   ENST00000450656
RefSeq Acc Id: ENSP00000391452   ⟸   ENST00000441246
RefSeq Acc Id: ENSP00000391096   ⟸   ENST00000431623
RefSeq Acc Id: ENSP00000312735   ⟸   ENST00000314595
RefSeq Acc Id: ENSP00000407728   ⟸   ENST00000433463
RefSeq Acc Id: ENSP00000370625   ⟸   ENST00000381227
Promoters
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

Clinical Variants
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
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q12(chr4:57859592-58005459)x3 copy number gain not provided [RCV000743598] Chr4:57859592..58005459 [GRCh37]
Chr4:4q12
benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4q12(chr4:57067953-57957651)x3 copy number gain not provided [RCV001005548] Chr4:57067953..57957651 [GRCh37]
Chr4:4q12
uncertain significance
NM_000938.3(POLR2B):c.2123C>T (p.Ala708Val) single nucleotide variant Tracheoesophageal fistula [RCV001172299] Chr4:57017210 [GRCh38]
Chr4:57883376 [GRCh37]
Chr4:4q12
likely pathogenic
GRCh37/hg19 4q12(chr4:57588857-57872994)x3 copy number gain not provided [RCV001258646] Chr4:57588857..57872994 [GRCh37]
Chr4:4q12
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9188 AgrOrtholog
COSMIC POLR2B COSMIC
Ensembl Genes ENSG00000047315 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000312735 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370625 UniProtKB/Swiss-Prot
  ENSP00000391096 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000391452 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000407728 UniProtKB/TrEMBL
  ENSP00000408638 UniProtKB/TrEMBL
Ensembl Transcript ENST00000314595 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381227 UniProtKB/Swiss-Prot
  ENST00000431623 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000433463 UniProtKB/TrEMBL
  ENST00000441246 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000450656 UniProtKB/TrEMBL
Gene3D-CATH 2.40.270.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2.40.50.150 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.90.1110.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000047315 GTEx
HGNC ID HGNC:9188 ENTREZGENE
Human Proteome Map POLR2B Human Proteome Map
InterPro DNA-dir_RNA_pol_su2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA-dir_RNAP_su2_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DNA-dir_RNAP_su2_hyb_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_bsu_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_bsu_protrusion UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_2_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_RPB2_OB-fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5431 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5431 ENTREZGENE
OMIM 180661 OMIM
PANTHER PTHR20856 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam RNA_pol_Rpb2_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RNA_pol_Rpb2_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33508 PharmGKB
PROSITE RNA_POL_BETA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniGene Hs.602757 ENTREZGENE
UniProt A0A1W2PPT5 ENTREZGENE
  B4DH29 ENTREZGENE, UniProtKB/TrEMBL
  B4DHJ3 ENTREZGENE, UniProtKB/TrEMBL
  C9J2Y9 ENTREZGENE, UniProtKB/TrEMBL
  C9J4M6_HUMAN UniProtKB/TrEMBL
  C9JMN3_HUMAN UniProtKB/TrEMBL
  C9JZW8_HUMAN UniProtKB/TrEMBL
  P30876 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A8K1A8 UniProtKB/Swiss-Prot
  Q8IZ61 UniProtKB/Swiss-Prot


Nomenclature History
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