POLR2A (RNA polymerase II subunit A) - Rat Genome Database
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Gene: POLR2A (RNA polymerase II subunit A) Homo sapiens
Analyze
Symbol: POLR2A
Name: RNA polymerase II subunit A
RGD ID: 1352013
Description: Exhibits enzyme binding activity; promoter-specific chromatin binding activity; and protein C-terminus binding activity. Predicted to contribute to RNA polymerase II activity. Involved in DNA-templated transcription, termination; positive regulation of RNA splicing; and transcription by RNA polymerase II. Localizes to RNA polymerase II, core complex. Colocalizes with Prp19 complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit; DNA-directed RNA polymerase II subunit A; DNA-directed RNA polymerase II subunit RPB1; DNA-directed RNA polymerase III largest subunit; hRPB220; hsRPB1; MGC75453; NEDHIB; POLR2; POLRA; polymerase (RNA) II (DNA directed) polypeptide A, 220kDa; polymerase (RNA) II subunit A; RNA polymerase II subunit B1; RNA-directed RNA polymerase II subunit RPB1; RPB1; RPBh1; RpIILS; RPO2; RPOL2
Orthologs:
Mus musculus (house mouse) : Polr2a (polymerase (RNA) II (DNA directed) polypeptide A)  MGI  Alliance
Rattus norvegicus (Norway rat) : Polr2a (RNA polymerase II subunit A)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Polr2a (RNA polymerase II subunit A)
Pan paniscus (bonobo/pygmy chimpanzee) : POLR2A (RNA polymerase II subunit A)
Canis lupus familiaris (dog) : POLR2A (RNA polymerase II subunit A)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Polr2a (RNA polymerase II subunit A)
Sus scrofa (pig) : POLR2A (RNA polymerase II subunit A)
Chlorocebus sabaeus (African green monkey) : POLR2A (RNA polymerase II subunit A)
Heterocephalus glaber (naked mole-rat) : Polr2a (RNA polymerase II subunit A)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl177,484,366 - 7,514,616 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl177,484,366 - 7,514,618 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,484,366 - 7,514,616 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,387,698 - 7,417,935 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,328,422 - 7,358,653 (+)NCBINCBI36hg18NCBI36
Build 34177,328,421 - 7,358,653NCBI
Celera177,414,117 - 7,444,201 (+)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,281,725 - 7,311,963 (+)NCBIHuRef
CHM1_1177,396,777 - 7,426,944 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:435297   PMID:1487824   PMID:1542581   PMID:1559613   PMID:1939271   PMID:2190099   PMID:2449431   PMID:2999107   PMID:3145407   PMID:3860504   PMID:4506230   PMID:6200476  
PMID:7533294   PMID:7622068   PMID:7638159   PMID:7853496   PMID:7926747   PMID:8034326   PMID:8637904   PMID:8676484   PMID:8692842   PMID:8700522   PMID:8700889   PMID:8800208  
PMID:8849451   PMID:8876177   PMID:8889548   PMID:8890175   PMID:8895581   PMID:8910388   PMID:8934526   PMID:8946909   PMID:9002523   PMID:9054383   PMID:9108033   PMID:9121429  
PMID:9128241   PMID:9153302   PMID:9159119   PMID:9168116   PMID:9184228   PMID:9201987   PMID:9268387   PMID:9305852   PMID:9305922   PMID:9311784   PMID:9311822   PMID:9312053  
PMID:9315662   PMID:9334327   PMID:9346935   PMID:9372911   PMID:9405375   PMID:9409616   PMID:9443979   PMID:9450929   PMID:9491887   PMID:9512541   PMID:9570510   PMID:9632813  
PMID:9651670   PMID:9671816   PMID:9696809   PMID:9705270   PMID:9710619   PMID:9765201   PMID:9765293   PMID:9790902   PMID:9845365   PMID:9852112   PMID:9874563   PMID:10024883  
PMID:10066804   PMID:10069959   PMID:10075709   PMID:10199401   PMID:10329125   PMID:10359081   PMID:10364292   PMID:10373521   PMID:10393184   PMID:10393805   PMID:10438593   PMID:10454543  
PMID:10454562   PMID:10490622   PMID:10490634   PMID:10536359   PMID:10545121   PMID:10567706   PMID:10574912   PMID:10617616   PMID:10620016   PMID:10698937   PMID:10704353   PMID:10725406  
PMID:10737800   PMID:10753860   PMID:10757782   PMID:10773068   PMID:10784442   PMID:10866664   PMID:10908677   PMID:10931842   PMID:10932246   PMID:10944529   PMID:10958691   PMID:10983978  
PMID:11080476   PMID:11112772   PMID:11149922   PMID:11238380   PMID:11278802   PMID:11313019   PMID:11459828   PMID:11504724   PMID:11547919   PMID:11575923   PMID:11683387   PMID:11714725  
PMID:11809800   PMID:11940650   PMID:12036313   PMID:12049628   PMID:12052871   PMID:12054881   PMID:12062018   PMID:12089333   PMID:12114499   PMID:12126615   PMID:12145330   PMID:12154023  
PMID:12168660   PMID:12198243   PMID:12200141   PMID:12221105   PMID:12226669   PMID:12234934   PMID:12358429   PMID:12372413   PMID:12376575   PMID:12379213   PMID:12381297   PMID:12391174  
PMID:12435728   PMID:12477932   PMID:12527917   PMID:12560496   PMID:12565871   PMID:12579324   PMID:12588988   PMID:12591939   PMID:12604794   PMID:12612062   PMID:12634356   PMID:12642036  
PMID:12665568   PMID:12665589   PMID:12676794   PMID:12721286   PMID:12775419   PMID:12861003   PMID:12887902   PMID:12914699   PMID:12955082   PMID:14506230   PMID:14536091   PMID:14569024  
PMID:14576433   PMID:14578343   PMID:14580347   PMID:14580349   PMID:14612417   PMID:14627702   PMID:14684736   PMID:14701755   PMID:14963322   PMID:14992727   PMID:15009212   PMID:15099517  
PMID:15144186   PMID:15169877   PMID:15175163   PMID:15235609   PMID:15282296   PMID:15282305   PMID:15302935   PMID:15328539   PMID:15494311   PMID:15502823   PMID:15530371   PMID:15542435  
PMID:15546612   PMID:15563843   PMID:15565158   PMID:15570572   PMID:15592455   PMID:15613478   PMID:15632063   PMID:15640154   PMID:15711563   PMID:15713661   PMID:15808510   PMID:15829968  
PMID:15863722   PMID:15886201   PMID:15890193   PMID:15919092   PMID:15923622   PMID:15989967   PMID:15992770   PMID:15999204   PMID:16009131   PMID:16024656   PMID:16055720   PMID:16061184  
PMID:16086846   PMID:16109376   PMID:16118227   PMID:16195385   PMID:16199523   PMID:16210313   PMID:16239144   PMID:16246722   PMID:16289656   PMID:16314571   PMID:16319923   PMID:16327805  
PMID:16341228   PMID:16344560   PMID:16491129   PMID:16735508   PMID:16838299   PMID:16916636   PMID:16936726   PMID:16949370   PMID:16957778   PMID:17011493   PMID:17028590   PMID:17050672  
PMID:17098194   PMID:17168834   PMID:17210645   PMID:17218272   PMID:17234882   PMID:17283126   PMID:17314511   PMID:17353931   PMID:17376917   PMID:17525170   PMID:17583472   PMID:17584298  
PMID:17643375   PMID:17661632   PMID:17996703   PMID:17998332   PMID:18029348   PMID:18032511   PMID:18079403   PMID:18079404   PMID:18197258   PMID:18209063   PMID:18218627   PMID:18285459  
PMID:18294453   PMID:18342606   PMID:18391197   PMID:18408764   PMID:18419580   PMID:18433331   PMID:18464913   PMID:18550522   PMID:18562274   PMID:18566585   PMID:18588899   PMID:18624398  
PMID:18632853   PMID:18710935   PMID:18815126   PMID:18854154   PMID:18991615   PMID:19037258   PMID:19106100   PMID:19141475   PMID:19214185   PMID:19237606   PMID:19240132   PMID:19249677  
PMID:19270065   PMID:19309309   PMID:19322201   PMID:19454010   PMID:19526283   PMID:19819239   PMID:19913121   PMID:19920177   PMID:20081228   PMID:20083121   PMID:20085707   PMID:20106982  
PMID:20133760   PMID:20178742   PMID:20227660   PMID:20308691   PMID:20348541   PMID:20360068   PMID:20421419   PMID:20471948   PMID:20508642   PMID:20516061   PMID:20541997   PMID:20562857  
PMID:20628086   PMID:20705653   PMID:20861839   PMID:20864038   PMID:20941529   PMID:20972445   PMID:20978146   PMID:21030982   PMID:21072189   PMID:21088000   PMID:21145461   PMID:21235343  
PMID:21264352   PMID:21326907   PMID:21329877   PMID:21360054   PMID:21402780   PMID:21406692   PMID:21536736   PMID:21729782   PMID:21782856   PMID:21829606   PMID:21873227   PMID:21873635  
PMID:21880767   PMID:21972559   PMID:21994455   PMID:22020438   PMID:22053051   PMID:22195966   PMID:22211660   PMID:22229121   PMID:22253435   PMID:22261722   PMID:22264791   PMID:22343046  
PMID:22379099   PMID:22421880   PMID:22422068   PMID:22446626   PMID:22549466   PMID:22567366   PMID:22586326   PMID:22592529   PMID:22605332   PMID:22658674   PMID:22681889   PMID:22684280  
PMID:22863883   PMID:22895430   PMID:22939629   PMID:22966203   PMID:22988298   PMID:22990118   PMID:23028129   PMID:23064645   PMID:23066109   PMID:23086925   PMID:23087374   PMID:23100252  
PMID:23192870   PMID:23274668   PMID:23319609   PMID:23349811   PMID:23395899   PMID:23401853   PMID:23416138   PMID:23602572   PMID:23638030   PMID:23652018   PMID:23748380   PMID:23752268  
PMID:23767415   PMID:23825951   PMID:23827503   PMID:23906511   PMID:23928995   PMID:23994473   PMID:24086155   PMID:24165037   PMID:24217245   PMID:24330569   PMID:24359561   PMID:24360965  
PMID:24413172   PMID:24418534   PMID:24441171   PMID:24457600   PMID:24462114   PMID:24550385   PMID:24591637   PMID:24639526   PMID:24711643   PMID:24778252   PMID:24793692   PMID:24814348  
PMID:24819879   PMID:24828331   PMID:24837678   PMID:24957606   PMID:24981860   PMID:24997600   PMID:25023704   PMID:25165108   PMID:25184681   PMID:25193115   PMID:25252977   PMID:25281560  
PMID:25416956   PMID:25483050   PMID:25544563   PMID:25609649   PMID:25693804   PMID:25737280   PMID:25921289   PMID:26124092   PMID:26186194   PMID:26318153   PMID:26344197   PMID:26432391  
PMID:26488441   PMID:26496610   PMID:26499373   PMID:26508657   PMID:26515650   PMID:26620705   PMID:26638075   PMID:26659056   PMID:26673895   PMID:26700805   PMID:26807597   PMID:26841866  
PMID:26902284   PMID:26972000   PMID:27025967   PMID:27058666   PMID:27365365   PMID:27375898   PMID:27502483   PMID:27548314   PMID:27583302   PMID:27587583   PMID:27609421   PMID:27684187  
PMID:27780869   PMID:27880917   PMID:28027311   PMID:28036256   PMID:28065597   PMID:28076779   PMID:28077445   PMID:28292928   PMID:28331082   PMID:28408437   PMID:28506463   PMID:28514442  
PMID:28515276   PMID:28561026   PMID:28700933   PMID:28700943   PMID:28775317   PMID:28883622   PMID:28922562   PMID:28945358   PMID:28977633   PMID:28994650   PMID:29033323   PMID:29180510  
PMID:29187741   PMID:29229926   PMID:29386125   PMID:29395067   PMID:29459360   PMID:29467282   PMID:29507755   PMID:29513652   PMID:29564676   PMID:29581440   PMID:29666292   PMID:29676528  
PMID:29721183   PMID:29802328   PMID:29884807   PMID:29955894   PMID:29973595   PMID:30021884   PMID:30118678   PMID:30196744   PMID:30344098   PMID:30349055   PMID:30404004   PMID:30415952  
PMID:30419336   PMID:30472188   PMID:30508113   PMID:30541148   PMID:30575818   PMID:30585266   PMID:30715484   PMID:30804480   PMID:30804502   PMID:30824372   PMID:30948266   PMID:30994454  
PMID:31045206   PMID:31048545   PMID:31054975   PMID:31091453   PMID:31169889   PMID:31180492   PMID:31216022   PMID:31353023   PMID:31385803   PMID:31527615   PMID:31586073   PMID:31617661  
PMID:31685992   PMID:31753913   PMID:31941775   PMID:31980649   PMID:32296183   PMID:32814053   PMID:33001583  


Genomics

Comparative Map Data
POLR2A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl177,484,366 - 7,514,616 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl177,484,366 - 7,514,618 (+)EnsemblGRCh38hg38GRCh38
GRCh38177,484,366 - 7,514,616 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37177,387,698 - 7,417,935 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36177,328,422 - 7,358,653 (+)NCBINCBI36hg18NCBI36
Build 34177,328,421 - 7,358,653NCBI
Celera177,414,117 - 7,444,201 (+)NCBI
Cytogenetic Map17p13.1NCBI
HuRef177,281,725 - 7,311,963 (+)NCBIHuRef
CHM1_1177,396,777 - 7,426,944 (+)NCBICHM1_1
Polr2a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391169,624,823 - 69,649,459 (-)NCBI
GRCm381169,733,997 - 69,758,633 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1169,733,997 - 69,758,637 (-)EnsemblGRCm38mm10GRCm38
MGSCv371169,547,912 - 69,571,725 (-)NCBIGRCm37mm9NCBIm37
MGSCv361169,550,605 - 69,574,418 (-)NCBImm8
MGSCv361170,318,517 - 70,342,330 (-)NCBImm8
Cytogenetic Map11B3NCBI
cM Map1142.86NCBI
Polr2a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01056,339,277 - 56,364,888 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1056,339,284 - 56,365,084 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01056,084,677 - 56,110,778 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41056,552,872 - 56,579,172 (-)NCBIRGSC3.4rn4RGSC3.4
Celera1053,606,814 - 53,632,373 (-)NCBICelera
Cytogenetic Map10q24NCBI
Polr2a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554679,421,256 - 9,447,530 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554679,423,540 - 9,447,530 (-)NCBIChiLan1.0ChiLan1.0
POLR2A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1177,502,807 - 7,532,761 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl177,502,807 - 7,532,521 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0177,516,940 - 7,546,989 (+)NCBIMhudiblu_PPA_v0panPan3
POLR2A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl532,403,829 - 32,429,681 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1532,403,814 - 32,429,717 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Polr2a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_004936595755,585 - 781,692 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLR2A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1252,779,825 - 52,810,165 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11252,779,833 - 52,806,210 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21254,952,789 - 54,972,415 (-)NCBISscrofa10.2Sscrofa10.2susScr3
POLR2A
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1 Ensembl166,860,677 - 6,888,618 (+)Ensembl
ChlSab1.1166,860,487 - 6,889,054 (+)NCBI
Polr2a
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462478610,098,133 - 10,122,783 (+)NCBI

Position Markers
WI-16243  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,417,759 - 7,417,884UniSTSGRCh37
Build 36177,358,483 - 7,358,608RGDNCBI36
Celera177,444,027 - 7,444,152RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,311,787 - 7,311,912UniSTS
Whitehead-RH Map1780.7UniSTS
G43606  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,389,181 - 7,389,400UniSTSGRCh37
Build 36177,329,905 - 7,330,124RGDNCBI36
Celera177,415,448 - 7,415,667RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,283,203 - 7,283,422UniSTS
RH104382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,392,629 - 7,392,766UniSTSGRCh37
Build 36177,333,353 - 7,333,490RGDNCBI36
Celera177,418,898 - 7,419,035RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,286,655 - 7,286,792UniSTS
GeneMap99-GB4 RH Map1753.5UniSTS
UniSTS:225108  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Un159,699 - 159,850UniSTSGRCh37
GRCh372133,038,504 - 133,038,683UniSTSGRCh37
GRCh37Un115,727 - 115,878UniSTSGRCh37
Build 362132,754,974 - 132,755,153RGDNCBI36
Celera2125,608,651 - 125,608,830RGD
Celera2126,758,612 - 126,758,791UniSTS
HuRefY7,916,374 - 7,916,553UniSTS
HuRef2125,031,872 - 125,032,051UniSTS
WI-1288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,415,308 - 7,415,527UniSTSGRCh37
Build 36177,356,032 - 7,356,251RGDNCBI36
Celera177,441,576 - 7,441,795RGD
Cytogenetic Map17p13.1UniSTS
HuRef177,309,336 - 7,309,555UniSTS
RH80168  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37177,416,357 - 7,416,816UniSTSGRCh37
Celera177,442,625 - 7,443,084UniSTS
Cytogenetic Map17p13.1UniSTS
HuRef177,310,385 - 7,310,844UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2042
Count of miRNA genes:894
Interacting mature miRNAs:1085
Transcripts:ENST00000322644, ENST00000572844, ENST00000573603, ENST00000574158, ENST00000575547, ENST00000576114, ENST00000576553, ENST00000576718, ENST00000576952
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 adipose tissue appendage entire extraembryonic component
High
Medium 2430 2876 1686 587 1913 429 4355 2124 3543 389 1447 1605 171 1204 2788 4
Low 2 108 37 35 35 35 69 165 29 1 3
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_027747 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC113189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AEKP01075050 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW589665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC067295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC107140 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC137231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ353795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ891728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU730469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU739765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CV355924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA923649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KX404973 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M21610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X59443 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X63564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74871 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X74874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z54152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000572844   ⟹   ENSP00000461879
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,484,620 - 7,499,758 (+)Ensembl
RefSeq Acc Id: ENST00000573603
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,508,471 - 7,509,927 (+)Ensembl
RefSeq Acc Id: ENST00000574158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,503,401 - 7,503,956 (+)Ensembl
RefSeq Acc Id: ENST00000575547
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,498,826 - 7,500,791 (+)Ensembl
RefSeq Acc Id: ENST00000576114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,502,085 - 7,502,724 (+)Ensembl
RefSeq Acc Id: ENST00000576553
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,511,515 - 7,512,481 (+)Ensembl
RefSeq Acc Id: ENST00000576718
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,502,921 - 7,503,655 (+)Ensembl
RefSeq Acc Id: ENST00000576952
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,497,781 - 7,498,519 (+)Ensembl
RefSeq Acc Id: ENST00000617998
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,484,366 - 7,514,616 (+)Ensembl
RefSeq Acc Id: ENST00000674977   ⟹   ENSP00000502190
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,484,366 - 7,513,772 (+)Ensembl
RefSeq Acc Id: ENST00000676281   ⟹   ENSP00000502655
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl177,513,777 - 7,514,179 (+)Ensembl
RefSeq Acc Id: NM_000937   ⟹   NP_000928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,484,366 - 7,514,616 (+)NCBI
GRCh37177,387,698 - 7,417,935 (+)ENTREZGENE
Build 36177,328,422 - 7,358,653 (+)NCBI Archive
HuRef177,281,725 - 7,311,963 (+)ENTREZGENE
CHM1_1177,396,777 - 7,426,944 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000928   ⟸   NM_000937
- UniProtKB: P24928 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000461879   ⟸   ENST00000572844
RefSeq Acc Id: ENSP00000502190   ⟸   ENST00000674977
RefSeq Acc Id: ENSP00000502655   ⟸   ENST00000676281
Protein Domains
RPOLA_N

Promoters
RGD ID:6794443
Promoter ID:HG_KWN:24886
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000322644,   NM_020899,   UC002GHE.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36177,327,796 - 7,328,552 (+)MPROMDB
RGD ID:7233767
Promoter ID:EPDNEW_H22629
Type:multiple initiation site
Name:POLR2A_1
Description:RNA polymerase II subunit A
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38177,484,366 - 7,484,426EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1 copy number loss See cases [RCV000051043] Chr17:5732977..8038822 [GRCh38]
Chr17:5636297..7942140 [GRCh37]
Chr17:5577021..7882865 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:6958978-8335684)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052457]|See cases [RCV000052457] Chr17:6958978..8335684 [GRCh38]
Chr17:6862297..8239002 [GRCh37]
Chr17:6803021..8179727 [NCBI36]
Chr17:17p13.1
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6307904-8842949)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053407]|See cases [RCV000053407] Chr17:6307904..8842949 [GRCh38]
Chr17:6211224..8746266 [GRCh37]
Chr17:6151948..8686991 [NCBI36]
Chr17:17p13.2-13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:7210345-7496934)x1 copy number loss See cases [RCV000053425] Chr17:7210345..7496934 [GRCh38]
Chr17:7113664..7400253 [GRCh37]
Chr17:7054388..7340977 [NCBI36]
Chr17:17p13.1
pathogenic
GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1 copy number loss See cases [RCV000053426] Chr17:7478195..8435524 [GRCh38]
Chr17:7381514..8338842 [GRCh37]
Chr17:7322238..8279567 [NCBI36]
Chr17:17p13.1
pathogenic
NM_000937.4(POLR2A):c.2907C>T (p.Ile969=) single nucleotide variant Malignant melanoma [RCV000071691] Chr17:7503271 [GRCh38]
Chr17:7406590 [GRCh37]
Chr17:7347314 [NCBI36]
Chr17:17p13.1
not provided
NM_001102614.1(SLC35G6):c.379G>A (p.Ala127Thr) single nucleotide variant Malignant melanoma [RCV000063309] Chr17:7482363 [GRCh38]
Chr17:7385682 [GRCh37]
Chr17:7326406 [NCBI36]
Chr17:17p13.1
not provided
GRCh38/hg38 17p13.1(chr17:6958978-7491129)x3 copy number gain See cases [RCV000133763] Chr17:6958978..7491129 [GRCh38]
Chr17:6862297..7394448 [GRCh37]
Chr17:6803021..7335172 [NCBI36]
Chr17:17p13.1
uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3 copy number gain See cases [RCV000134851] Chr17:5732953..12095349 [GRCh38]
Chr17:5636273..11998666 [GRCh37]
Chr17:5576997..11939391 [NCBI36]
Chr17:17p13.2-12
pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1
pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3 copy number gain See cases [RCV000138220] Chr17:6361393..7750863 [GRCh38]
Chr17:6264713..7654181 [GRCh37]
Chr17:6205437..7594906 [NCBI36]
Chr17:17p13.2-13.1
likely pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.1(chr17:7241916-8692213)x1 copy number loss See cases [RCV000445992] Chr17:7241916..8692213 [GRCh37]
Chr17:17p13.1
pathogenic
Single allele duplication Robin sequence [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1
likely pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.1(chr17:6934163-8217978)x1 copy number loss PARP Inhibitor response [RCV000626431] Chr17:6934163..8217978 [GRCh37]
Chr17:17p13.1
drug response
GRCh37/hg19 17p13.1(chr17:7094070-7414448)x1 copy number loss See cases [RCV000512276] Chr17:7094070..7414448 [GRCh37]
Chr17:17p13.1
likely pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NC_000017.10:g.7124585_7400253dup duplication Robin sequence [RCV000677112] Chr17:7124585..7400253 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.1(chr17:7269373-7390669)x1 copy number loss not provided [RCV000739395] Chr17:7269373..7390669 [GRCh37]
Chr17:17p13.1
benign
NM_000937.5(POLR2A):c.5016G>A (p.Ser1672=) single nucleotide variant not provided [RCV000947764] Chr17:7513280 [GRCh38]
Chr17:7416599 [GRCh37]
Chr17:17p13.1
likely benign
NM_000937.5(POLR2A):c.3368G>T (p.Arg1123Leu) single nucleotide variant not provided [RCV000996474] Chr17:7508378 [GRCh38]
Chr17:7411697 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_000937.5(POLR2A):c.3371T>C (p.Leu1124Pro) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES [RCV000852292] Chr17:7508381 [GRCh38]
Chr17:7411700 [GRCh37]
Chr17:17p13.1
pathogenic
NM_000937.5(POLR2A):c.1166C>G (p.Thr389Ser) single nucleotide variant not provided [RCV000850397] Chr17:7497834 [GRCh38]
Chr17:7401153 [GRCh37]
Chr17:17p13.1
uncertain significance
GRCh37/hg19 17p13.1(chr17:7381536-7535411)x1 copy number loss not provided [RCV001006867] Chr17:7381536..7535411 [GRCh37]
Chr17:17p13.1
uncertain significance
NC_000017.10:g.(?_6589506)_(8151374_?)dup duplication Dyskeratosis congenita [RCV001031775] Chr17:6589506..8151374 [GRCh37]
Chr17:17p13.1
uncertain significance
NM_000937.5(POLR2A):c.2098C>T (p.Gln700Ter) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES [RCV000852289] Chr17:7501336 [GRCh38]
Chr17:7404655 [GRCh37]
Chr17:17p13.1
pathogenic
NM_000937.5(POLR2A):c.2207C>T (p.Thr736Met) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES [RCV000852291] Chr17:7501587 [GRCh38]
Chr17:7404906 [GRCh37]
Chr17:17p13.1
pathogenic
NM_000937.5(POLR2A):c.2203C>T (p.Gln735Ter) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES [RCV000852290] Chr17:7501583 [GRCh38]
Chr17:7404902 [GRCh37]
Chr17:17p13.1
pathogenic
NM_000937.5(POLR2A):c.2292= (p.Asn764=) variation Gemcitabine response [RCV000851367] Chr17:7501672 [GRCh38]
Chr17:7404991 [GRCh37]
Chr17:17p13.1
drug response
NM_000937.5(POLR2A):c.1370T>C (p.Ile457Thr) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES [RCV000852288] Chr17:7499073 [GRCh38]
Chr17:7402392 [GRCh37]
Chr17:17p13.1
pathogenic
NM_000937.5(POLR2A):c.4062C>T (p.Pro1354=) single nucleotide variant not provided [RCV000907127] Chr17:7511549 [GRCh38]
Chr17:7414868 [GRCh37]
Chr17:17p13.1
benign
NM_000937.5(POLR2A):c.4995G>A (p.Ser1665=) single nucleotide variant not provided [RCV000885500] Chr17:7513259 [GRCh38]
Chr17:7416578 [GRCh37]
Chr17:17p13.1
likely benign
NM_000937.5(POLR2A):c.4606+9C>T single nucleotide variant not provided [RCV000923781] Chr17:7512599 [GRCh38]
Chr17:7415918 [GRCh37]
Chr17:17p13.1
likely benign
NM_000937.5(POLR2A):c.180G>T (p.Pro60=) single nucleotide variant not provided [RCV000974371] Chr17:7496027 [GRCh38]
Chr17:7399346 [GRCh37]
Chr17:17p13.1
likely benign
NM_000937.5(POLR2A):c.5007C>T (p.Pro1669=) single nucleotide variant not provided [RCV000912999] Chr17:7513271 [GRCh38]
Chr17:7416590 [GRCh37]
Chr17:17p13.1
likely benign
NM_000937.5(POLR2A):c.1462G>A (p.Val488Met) single nucleotide variant not provided [RCV001172113] Chr17:7499282 [GRCh38]
Chr17:7402601 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe) single nucleotide variant Neurodevelopmental disorder [RCV001195309] Chr17:7508291 [GRCh38]
Chr17:7411610 [GRCh37]
Chr17:17p13.1
likely pathogenic
NM_000937.5(POLR2A):c.2508C>A (p.Phe836Leu) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES [RCV001262821] Chr17:7502058 [GRCh38]
Chr17:7405377 [GRCh37]
Chr17:17p13.1
likely pathogenic
GRCh37/hg19 17p13.1(chr17:6650649-8040151)x3 copy number gain not provided [RCV001259299] Chr17:6650649..8040151 [GRCh37]
Chr17:17p13.1
pathogenic
NM_000937.5(POLR2A):c.5428C>T (p.Arg1810Ter) AND NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL single nucleotide variant NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES [RCV001262471] Chr17:7513692 [GRCh38]
Chr17:7417011 [GRCh37]
Chr17:17p13.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9187 AgrOrtholog
COSMIC POLR2A COSMIC
Ensembl Genes ENSG00000181222 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000461879 UniProtKB/Swiss-Prot
  ENSP00000502190 ENTREZGENE
Ensembl Transcript ENST00000572844 UniProtKB/Swiss-Prot
  ENST00000674977 ENTREZGENE
Gene3D-CATH 1.10.132.30 UniProtKB/Swiss-Prot
  1.10.274.100 UniProtKB/Swiss-Prot
  3.30.1360.140 UniProtKB/Swiss-Prot
GTEx ENSG00000181222 GTEx
HGNC ID HGNC:9187 ENTREZGENE
Human Proteome Map POLR2A Human Proteome Map
InterPro RNA_pol_asu UniProtKB/Swiss-Prot
  RNA_pol_II_repeat_euk UniProtKB/Swiss-Prot
  RNA_pol_N UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_1 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_3 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_3_sf UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_4 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_5 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_6 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_7 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_7_sf UniProtKB/Swiss-Prot
  Rpb1_funnel_sf UniProtKB/Swiss-Prot
KEGG Report hsa:5430 UniProtKB/Swiss-Prot
NCBI Gene 5430 ENTREZGENE
OMIM 180660 OMIM
  618603 OMIM
Pfam RNA_pol_Rpb1_1 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_2 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_3 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_4 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_5 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_6 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_7 UniProtKB/Swiss-Prot
  RNA_pol_Rpb1_R UniProtKB/Swiss-Prot
PharmGKB PA33507 PharmGKB
PROSITE RNA_POL_II_REPEAT UniProtKB/Swiss-Prot
SMART RPOLA_N UniProtKB/Swiss-Prot
UniGene Hs.270017 ENTREZGENE
UniProt P24928 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NN93 UniProtKB/Swiss-Prot
  B9EH88 UniProtKB/Swiss-Prot
  Q6NX41 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-19 POLR2A  RNA polymerase II subunit A    polymerase (RNA) II subunit A  Symbol and/or name change 5135510 APPROVED
2016-03-07 POLR2A  polymerase (RNA) II subunit A    polymerase (RNA) II (DNA directed) polypeptide A, 220kDa  Symbol and/or name change 5135510 APPROVED
2011-08-16 POLR2A  polymerase (RNA) II (DNA directed) polypeptide A, 220kDa  POLR2A  polymerase (RNA) II (DNA directed) polypeptide A, 220kDa  Symbol and/or name change 5135510 APPROVED