POLR2K (RNA polymerase II, I and III subunit K) - Rat Genome Database

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Gene: POLR2K (RNA polymerase II, I and III subunit K) Homo sapiens
Analyze
Symbol: POLR2K
Name: RNA polymerase II, I and III subunit K
RGD ID: 1352672
HGNC Page HGNC
Description: Predicted to have DNA binding activity; DNA-directed 5'-3' RNA polymerase activity; and zinc ion binding activity. Involved in transcription by RNA polymerase II. Localizes to RNA polymerase II, core complex.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC10-alpha; DNA directed RNA polymerases I, II, and III 7.0 kda polypeptide; DNA-directed RNA polymerase II subunit K; DNA-directed RNA polymerases I, II, and III subunit RPABC4; hRPB7.0; hsRPB10a; polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa; polymerase (RNA) II subunit K; RNA polymerase II 7.0 kDa subunit; RNA polymerase II subunit K; RNA polymerases I, II, and III subunit ABC4; RPABC4; RPB10alpha; RPB12; RPB7.0
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: POLR2KP1   POLR2KP2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8100,150,623 - 100,154,003 (+)EnsemblGRCh38hg38GRCh38
GRCh388100,150,636 - 100,154,003 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378101,162,864 - 101,166,231 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368101,232,015 - 101,235,406 (+)NCBINCBI36hg18NCBI36
Build 348101,232,056 - 101,235,017NCBI
Celera897,348,231 - 97,351,622 (+)NCBI
Cytogenetic Map8q22.2NCBI
HuRef896,365,667 - 96,369,058 (+)NCBIHuRef
CHM1_18101,203,128 - 101,206,519 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:1403646   PMID:1559613   PMID:1939271   PMID:2190099   PMID:2449431   PMID:7638159   PMID:7651387   PMID:7853496   PMID:8637904   PMID:8676484   PMID:8800208   PMID:8849451  
PMID:8876177   PMID:8910388   PMID:8934526   PMID:8946909   PMID:9054383   PMID:9121429   PMID:9184228   PMID:9201987   PMID:9311822   PMID:9315662   PMID:9334327   PMID:9405375  
PMID:9409616   PMID:9491887   PMID:9512541   PMID:9570510   PMID:9582279   PMID:9651670   PMID:9696809   PMID:9765201   PMID:9790902   PMID:9852112   PMID:9874563   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:12052871   PMID:12089333   PMID:12114499   PMID:12126615   PMID:12213660   PMID:12221105   PMID:12226669   PMID:12379213   PMID:12393749   PMID:12477932   PMID:12634356   PMID:12642036  
PMID:12646563   PMID:12676794   PMID:12775419   PMID:12887902   PMID:14569024   PMID:15175163   PMID:15235609   PMID:15489334   PMID:16838299   PMID:16957778   PMID:17168834   PMID:17714821  
PMID:18218627   PMID:18976975   PMID:18991615   PMID:19237606   PMID:19526283   PMID:19950226   PMID:20227660   PMID:21360054   PMID:21729782   PMID:21832049   PMID:21873635   PMID:21972559  
PMID:22211660   PMID:22229121   PMID:22422068   PMID:22567366   PMID:22658674   PMID:23028129   PMID:23087374   PMID:23274668   PMID:23827503   PMID:24217245   PMID:24330569   PMID:24359561  
PMID:25544563   PMID:26344197   PMID:26354767   PMID:26496610   PMID:26673895   PMID:27503909   PMID:28846114   PMID:29509190   PMID:30033366   PMID:30463901   PMID:30804502   PMID:32296183  
PMID:32416067  


Genomics

Comparative Map Data
POLR2K
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8100,150,623 - 100,154,003 (+)EnsemblGRCh38hg38GRCh38
GRCh388100,150,636 - 100,154,003 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378101,162,864 - 101,166,231 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368101,232,015 - 101,235,406 (+)NCBINCBI36hg18NCBI36
Build 348101,232,056 - 101,235,017NCBI
Celera897,348,231 - 97,351,622 (+)NCBI
Cytogenetic Map8q22.2NCBI
HuRef896,365,667 - 96,369,058 (+)NCBIHuRef
CHM1_18101,203,128 - 101,206,519 (+)NCBICHM1_1
Polr2k
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391536,174,156 - 36,177,158 (+)NCBIGRCm39mm39
GRCm39 Ensembl1536,174,156 - 36,177,156 (+)Ensembl
GRCm381536,174,010 - 36,177,012 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1536,174,010 - 36,177,010 (+)EnsemblGRCm38mm10GRCm38
MGSCv371536,103,772 - 36,106,767 (+)NCBIGRCm37mm9NCBIm37
MGSCv361536,118,606 - 36,121,601 (+)NCBImm8
Celera1536,801,733 - 36,804,731 (+)NCBICelera
Cytogenetic Map15B3.1NCBI
Polr2k
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2767,347,118 - 67,359,466 (+)NCBI
Rnor_6.0 Ensembl774,989,223 - 74,992,582 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0774,939,010 - 74,992,594 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0775,095,116 - 75,141,685 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4771,682,995 - 71,697,330 (+)NCBIRGSC3.4rn4RGSC3.4
Celera764,437,255 - 64,440,601 (+)NCBICelera
Cytogenetic Map7q22NCBI
Polr2k
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541715,412,527 - 15,416,090 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541715,412,527 - 15,416,090 (+)NCBIChiLan1.0ChiLan1.0
POLR2K
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1898,965,837 - 98,969,222 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl898,965,837 - 98,969,221 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0896,791,485 - 96,794,913 (+)NCBIMhudiblu_PPA_v0panPan3
POLR2K
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1132,057,540 - 2,060,712 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl810,653,492 - 10,653,668 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl132,057,628 - 2,060,312 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha132,054,931 - 2,057,697 (+)NCBI
ROS_Cfam_1.0132,210,619 - 2,213,385 (+)NCBI
UMICH_Zoey_3.1132,054,820 - 2,057,586 (+)NCBI
UNSW_CanFamBas_1.0132,166,853 - 2,169,621 (+)NCBI
UU_Cfam_GSD_1.0132,167,859 - 2,170,628 (+)NCBI
Polr2k
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530335,653,317 - 35,657,195 (-)NCBI
SpeTri2.0NW_00493647043,079,377 - 43,083,251 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POLR2K
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl436,845,242 - 36,852,610 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1436,849,729 - 36,852,622 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2439,765,504 - 39,768,386 (-)NCBISscrofa10.2Sscrofa10.2susScr3
POLR2K
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1895,001,525 - 95,004,749 (+)NCBI
ChlSab1.1 Ensembl895,001,587 - 95,004,346 (+)Ensembl
Polr2k
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247637,068,000 - 7,071,752 (+)NCBI

Position Markers
D8S1944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,166,042 - 101,166,145UniSTSGRCh37
Build 368101,235,218 - 101,235,321RGDNCBI36
Celera897,351,434 - 97,351,537RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,368,870 - 96,368,973UniSTS
GeneMap99-GB4 RH Map8438.29UniSTS
Whitehead-RH Map8584.3UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH67206  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,165,605 - 101,165,732UniSTSGRCh37
Build 368101,234,781 - 101,234,908RGDNCBI36
Celera897,350,997 - 97,351,124RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,368,433 - 96,368,560UniSTS
SHGC-105113  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,161,010 - 101,161,346UniSTSGRCh37
Build 368101,230,186 - 101,230,522RGDNCBI36
Celera897,346,402 - 97,346,738RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,363,838 - 96,364,174UniSTS
SHGC-132177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,166,050 - 101,166,182UniSTSGRCh37
Build 368101,235,226 - 101,235,358RGDNCBI36
Celera897,351,442 - 97,351,574RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,368,878 - 96,369,010UniSTS
D8S1920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,166,040 - 101,166,169UniSTSGRCh37
Build 368101,235,216 - 101,235,345RGDNCBI36
Celera897,351,432 - 97,351,561RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,368,868 - 96,368,997UniSTS
Stanford-G3 RH Map83544.0UniSTS
NCBI RH Map81021.3UniSTS
GeneMap99-G3 RH Map83634.0UniSTS
RH35979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,166,002 - 101,166,151UniSTSGRCh37
Build 368101,235,178 - 101,235,327RGDNCBI36
Celera897,351,394 - 97,351,543RGD
Cytogenetic Map8q22.2UniSTS
HuRef896,368,830 - 96,368,979UniSTS
GeneMap99-GB4 RH Map8436.73UniSTS
G32515  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378101,165,605 - 101,165,732UniSTSGRCh37
Celera897,350,997 - 97,351,124UniSTS
Cytogenetic Map8q22.2UniSTS
HuRef896,368,433 - 96,368,560UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:484
Count of miRNA genes:360
Interacting mature miRNAs:395
Transcripts:ENST00000353107, ENST00000519765, ENST00000522439
Prediction methods: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 4
Medium 2436 2143 1682 582 1246 424 4238 1954 3654 416 1456 1612 174 1 1203 2670 6 2
Low 3 838 44 42 695 41 119 243 80 3 1 1 1 118
Below cutoff 10 10

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000353107   ⟹   ENSP00000342889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,150,636 - 100,154,003 (+)Ensembl
RefSeq Acc Id: ENST00000519765
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,150,625 - 100,153,646 (+)Ensembl
RefSeq Acc Id: ENST00000522439   ⟹   ENSP00000430106
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8100,150,623 - 100,152,209 (+)Ensembl
RefSeq Acc Id: NM_005034   ⟹   NP_005025
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388100,150,636 - 100,154,003 (+)NCBI
GRCh378101,162,839 - 101,166,230 (+)ENTREZGENE
Build 368101,232,015 - 101,235,406 (+)NCBI Archive
HuRef896,365,667 - 96,369,058 (+)ENTREZGENE
CHM1_18101,203,128 - 101,206,519 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_005025   ⟸   NM_005034
- UniProtKB: P53803 (UniProtKB/Swiss-Prot),   A0A024R9G0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000430106   ⟸   ENST00000522439
RefSeq Acc Id: ENSP00000342889   ⟸   ENST00000353107

Promoters
RGD ID:7213887
Promoter ID:EPDNEW_H12689
Type:initiation region
Name:POLR2K_1
Description:RNA polymerase II subunit K
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
GRCh388100,150,636 - 100,150,696EPDNEW
RGD ID:6806947
Promoter ID:HG_KWN:61801
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:NM_005034
Position:
Human AssemblyChrPosition (strand)Source
Build 368101,231,596 - 101,232,096 (+)MPROMDB
RGD ID:6853002
Promoter ID:EP74321
Type:initiation region
Name:HS_POLR2K
Description:Polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 368101,232,037 - 101,232,097EPD

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q22.2-22.3(chr8:100023254-101190270)x3 copy number gain See cases [RCV000050759] Chr8:100023254..101190270 [GRCh38]
Chr8:101035482..102202498 [GRCh37]
Chr8:101104658..102271674 [NCBI36]
Chr8:8q22.2-22.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.2-22.3(chr8:99580206-101547228)x1 copy number loss See cases [RCV000137322] Chr8:99580206..101547228 [GRCh38]
Chr8:100592434..102559456 [GRCh37]
Chr8:100661610..102628632 [NCBI36]
Chr8:8q22.2-22.3
likely pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q22.2(chr8:100871620-101253185)x3 copy number gain Ductal breast carcinoma [RCV000207177] Chr8:100871620..101253185 [GRCh37]
Chr8:8q22.2
uncertain significance
NC_000008.11:g.100151617_100163589del deletion Ciliary dyskinesia, primary, 28 [RCV000074364]|Kartagener syndrome [RCV000190931] Chr8:100151617..100163589 [GRCh38]
Chr8:101163845..101175817 [GRCh37]
Chr8:8q22
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q22.2-22.3(chr8:100551211-103676738)x1 copy number loss not provided [RCV000683023] Chr8:100551211..103676738 [GRCh37]
Chr8:8q22.2-22.3
pathogenic
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q22.2(chr8:100791383-101278033)x3 copy number gain not provided [RCV001006126] Chr8:100791383..101278033 [GRCh37]
Chr8:8q22.2
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9198 AgrOrtholog
COSMIC POLR2K COSMIC
Ensembl Genes ENSG00000147669 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000342889 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000430106 UniProtKB/TrEMBL
Ensembl Transcript ENST00000353107 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000522439 UniProtKB/TrEMBL
GTEx ENSG00000147669 GTEx
HGNC ID HGNC:9198 ENTREZGENE
Human Proteome Map POLR2K Human Proteome Map
InterPro RNAP_P/RPABC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RPABC4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RPABC4/Spt4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5440 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 5440 ENTREZGENE
OMIM 606033 OMIM
PANTHER PTHR12056 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DNA_RNApol_7kD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33518 PharmGKB
SMART RPOLCX UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63393 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R9G0 ENTREZGENE, UniProtKB/TrEMBL
  E5RGX2_HUMAN UniProtKB/TrEMBL
  P53803 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q6IBD4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-25 POLR2K  RNA polymerase II, I and III subunit K  POLR2K  RNA polymerase II subunit K  Symbol and/or name change 19259463 PROVISIONAL
2016-07-19 POLR2K  RNA polymerase II subunit K    polymerase (RNA) II subunit K  Symbol and/or name change 5135510 APPROVED
2016-03-07 POLR2K  polymerase (RNA) II subunit K    polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa  Symbol and/or name change 5135510 APPROVED