Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chemical and Drug Induced Liver Injury | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25231249 | |
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Imported Disease Annotations - CTDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Chemical and Drug Induced Liver Injury | | EXP | | 11554173 | CTD Direct Evidence: marker/mechanism | CTD | PMID:25231249 | |
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# | Reference Title | Reference Citation |
1. | KEGG: Kyoto Encyclopedia of Genes and Genomes | KEGG |
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. | Data Import for Chemical-Gene Interactions | RGD automated import pipeline for gene-chemical interactions |
PMID:1559613 | PMID:1939271 | PMID:2190099 | PMID:2449431 | PMID:7579693 | PMID:7638159 | 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:9256063 | PMID:9311822 | PMID:9315662 | PMID:9334327 | PMID:9405375 |
PMID:9409616 | PMID:9488465 | PMID:9491887 | PMID:9512541 | PMID:9528765 | PMID:9570510 | PMID:9651670 | PMID:9696809 | PMID:9704926 | 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:10777215 | 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:12221105 | PMID:12226669 | PMID:12379213 | PMID:12477932 | PMID:12634356 |
PMID:12642036 | PMID:12676794 | PMID:12775419 | PMID:12887902 | PMID:12912922 | PMID:14569024 | PMID:14667819 | PMID:15175163 | PMID:15282305 | PMID:15489334 | PMID:16282592 | PMID:16289656 |
PMID:16327806 | PMID:16838299 | PMID:16957778 | PMID:17168834 | PMID:17643375 | PMID:17661632 | PMID:17848138 | PMID:18218627 | PMID:18562274 | PMID:18991615 | PMID:19240132 | PMID:19526283 |
PMID:19615732 | PMID:20133760 | PMID:20227660 | PMID:20471948 | PMID:21360054 | PMID:21729782 | PMID:21873635 | PMID:21972559 | PMID:21988832 | PMID:22211660 | PMID:22229121 | PMID:22422068 |
PMID:22567366 | PMID:22939629 | PMID:22990118 | PMID:23028129 | PMID:23073835 | PMID:23087374 | PMID:23273982 | PMID:23274668 | PMID:23827503 | PMID:24217245 | PMID:24330569 | PMID:24359561 |
PMID:24457600 | PMID:24550385 | PMID:24981860 | PMID:25544563 | PMID:25732088 | PMID:26186194 | PMID:26344197 | PMID:26496610 | PMID:26673895 | PMID:27880917 | PMID:28514442 | PMID:28515276 |
PMID:28700943 | PMID:28846114 | PMID:29053956 | PMID:29150431 | PMID:29229926 | PMID:29395067 | PMID:29449217 | PMID:29478914 | PMID:29509190 | PMID:30389953 | PMID:31048545 | PMID:31452512 |
PMID:32296183 | PMID:32355176 | PMID:32416067 | PMID:32460013 | PMID:32985767 | PMID:33961781 | PMID:34108663 | PMID:34244565 | PMID:34373451 | PMID:35256949 | PMID:35271311 | PMID:35831314 |
PMID:37499664 | PMID:37682711 | PMID:37866880 |
POLR2G (Homo sapiens - human) |
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Polr2g (Mus musculus - house mouse) |
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Polr2g (Rattus norvegicus - Norway rat) |
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Polr2g (Chinchilla lanigera - long-tailed chinchilla) |
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POLR2G (Pan paniscus - bonobo/pygmy chimpanzee) |
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POLR2G (Canis lupus familiaris - dog) |
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Polr2g (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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POLR2G (Sus scrofa - pig) |
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POLR2G (Chlorocebus sabaeus - green monkey) |
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Polr2g (Heterocephalus glaber - naked mole-rat) |
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Name | Type | Condition(s) | Position(s) | Clinical significance |
GRCh38/hg38 11q12.3(chr11:62433886-63096003)x3 | copy number gain | See cases [RCV000053620] | Chr11:62433886..63096003 [GRCh38] Chr11:62201358..62863475 [GRCh37] Chr11:61957934..62620051 [NCBI36] Chr11:11q12.3 |
pathogenic |
GRCh38/hg38 11q12.3(chr11:62452571-62862781)x3 | copy number gain | See cases [RCV000053621] | Chr11:62452571..62862781 [GRCh38] Chr11:62220043..62630253 [GRCh37] Chr11:61976619..62386829 [NCBI36] Chr11:11q12.3 |
pathogenic |
GRCh38/hg38 11q12.3(chr11:62562836-62840570)x3 | copy number gain | See cases [RCV000134807] | Chr11:62562836..62840570 [GRCh38] Chr11:62330308..62608042 [GRCh37] Chr11:62086884..62364618 [NCBI36] Chr11:11q12.3 |
uncertain significance |
GRCh38/hg38 11q12.3(chr11:62249520-62946093)x3 | copy number gain | See cases [RCV000138411] | Chr11:62249520..62946093 [GRCh38] Chr11:62016992..62713565 [GRCh37] Chr11:61773568..62470141 [NCBI36] Chr11:11q12.3 |
pathogenic |
GRCh37/hg19 11q12.3(chr11:61840997-62987330)x1 | copy number loss | See cases [RCV000448355] | Chr11:61840997..62987330 [GRCh37] Chr11:11q12.3 |
likely pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) | copy number gain | See cases [RCV000511729] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 | copy number gain | See cases [RCV000510881] | Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 | copy number gain | not provided [RCV000737348] | Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 | copy number gain | not provided [RCV000749874] | Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25 |
pathogenic |
GRCh37/hg19 11q12.3(chr11:62314663-62788240)x3 | copy number gain | not provided [RCV000849841] | Chr11:62314663..62788240 [GRCh37] Chr11:11q12.3 |
uncertain significance |
GRCh37/hg19 11q12.3(chr11:62487052-62788240)x3 | copy number gain | not provided [RCV000846292] | Chr11:62487052..62788240 [GRCh37] Chr11:11q12.3 |
uncertain significance |
Single allele | deletion | Intellectual disability [RCV001293382] | Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3 |
pathogenic |
NC_000011.9:g.(?_59596957)_(68707199_?)dup | duplication | Familial temporal lobe epilepsy 8 [RCV001372442] | Chr11:59596957..68707199 [GRCh37] Chr11:11q12.1-13.3 |
uncertain significance |
NC_000011.9:g.(?_58916346)_(64972349_?)dup | duplication | Leukocyte adhesion deficiency 3 [RCV003113394]|not provided [RCV003113393] | Chr11:58916346..64972349 [GRCh37] Chr11:11q12.1-13.1 |
uncertain significance|no classifications from unflagged records |
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 | copy number gain | MISSED ABORTION [RCV002282973] | Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25 |
pathogenic |
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 | copy number gain | not provided [RCV003484842] | Chr11:59923608..76272324 [GRCh37] Chr11:11q12.2-13.5 |
pathogenic |
GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3 | copy number gain | not specified [RCV003986918] | Chr11:50398499..63924462 [GRCh37] Chr11:11p11.12-q13.1 |
likely pathogenic |
GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3 | copy number gain | not specified [RCV003986944] | Chr11:56895955..69295402 [GRCh37] Chr11:11q12.1-13.3 |
likely pathogenic |
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. |
SHGC-30229 |
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A004H14 |
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SGC31630 |
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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 | 2438 | 2848 | 1692 | 590 | 1927 | 432 | 4328 | 2061 | 3694 | 413 | 1457 | 1612 | 175 | 1 | 1204 | 2759 | 6 | 1 |
Low | 1 | 143 | 34 | 34 | 24 | 33 | 29 | 136 | 40 | 6 | 3 | 1 | 29 | 1 | ||||
Below cutoff |
RefSeq Transcripts | NM_002696 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
GenBank Nucleotide | AK312131 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
AP001160 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
AW016747 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC112162 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BC112164 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
BG530809 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CH471076 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
CP068267 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U20659 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles | |
U52427 | (Get FASTA) | NCBI Sequence Viewer | Search GEO for Microarray Profiles |
RefSeq Acc Id: | ENST00000301788 ⟹ ENSP00000301788 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000524819 ⟹ ENSP00000431624 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000525455 ⟹ ENSP00000433529 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000526368 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000527435 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000531944 ⟹ ENSP00000433877 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000531996 ⟹ ENSP00000435669 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | ENST00000533442 ⟹ ENSP00000432198 | ||||||||
Type: | CODING | ||||||||
Position: |
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RefSeq Acc Id: | NM_002696 ⟹ NP_002687 | ||||||||||||||||||||||||||||
RefSeq Status: | REVIEWED | ||||||||||||||||||||||||||||
Type: | CODING | ||||||||||||||||||||||||||||
Position: |
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Sequence: |
Protein RefSeqs | NP_002687 | (Get FASTA) | NCBI Sequence Viewer |
GenBank Protein | AAA86500 | (Get FASTA) | NCBI Sequence Viewer |
AAB96827 | (Get FASTA) | NCBI Sequence Viewer | |
AAI12163 | (Get FASTA) | NCBI Sequence Viewer | |
AAI12165 | (Get FASTA) | NCBI Sequence Viewer | |
BAG35067 | (Get FASTA) | NCBI Sequence Viewer | |
EAW74090 | (Get FASTA) | NCBI Sequence Viewer | |
EAW74091 | (Get FASTA) | NCBI Sequence Viewer | |
EAW74092 | (Get FASTA) | NCBI Sequence Viewer | |
Ensembl Protein | ENSP00000301788 | ||
ENSP00000301788.7 | |||
ENSP00000431624.1 | |||
ENSP00000432198.1 | |||
ENSP00000433529.1 | |||
ENSP00000433877.1 | |||
ENSP00000435669.1 | |||
GenBank Protein | P62487 | (Get FASTA) | NCBI Sequence Viewer |
RefSeq Acc Id: | NP_002687 ⟸ NM_002696 |
- UniProtKB: | P52433 (UniProtKB/Swiss-Prot), B2R5C0 (UniProtKB/Swiss-Prot), Q2M1Z4 (UniProtKB/Swiss-Prot), P62487 (UniProtKB/Swiss-Prot) |
- Sequence: |
RefSeq Acc Id: | ENSP00000435669 ⟸ ENST00000531996 |
RefSeq Acc Id: | ENSP00000433877 ⟸ ENST00000531944 |
RefSeq Acc Id: | ENSP00000432198 ⟸ ENST00000533442 |
RefSeq Acc Id: | ENSP00000431624 ⟸ ENST00000524819 |
RefSeq Acc Id: | ENSP00000433529 ⟸ ENST00000525455 |
RefSeq Acc Id: | ENSP00000301788 ⟸ ENST00000301788 |
Name | Modeler | Protein Id | AA Range | Protein Structure |
AF-P62487-F1-model_v2 | AlphaFold | P62487 | 1-172 | view protein structure |
RGD ID: | 6789252 | ||||||||
Promoter ID: | HG_KWN:13133 | ||||||||
Type: | CpG-Island | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | MPROMDB | ||||||||
Tissues & Cell Lines: | CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4 | ||||||||
Transcripts: | NM_002696, UC001NVB.1, UC009YOE.1 | ||||||||
Position: |
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RGD ID: | 6852334 | ||||||||
Promoter ID: | EP73974 | ||||||||
Type: | initiation region | ||||||||
Name: | HS_POLR2G | ||||||||
Description: | Polymerase (RNA) II (DNA directed) polypeptide G. | ||||||||
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: |
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RGD ID: | 7220721 | ||||||||
Promoter ID: | EPDNEW_H16106 | ||||||||
Type: | initiation region | ||||||||
Name: | POLR2G_1 | ||||||||
Description: | RNA polymerase II subunit G | ||||||||
SO ACC ID: | SO:0000170 | ||||||||
Source: | EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/) | ||||||||
Experiment Methods: | Single-end sequencing.; Paired-end sequencing. | ||||||||
Position: |
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Database | Acc Id | Source(s) |
AGR Gene | HGNC:9194 | AgrOrtholog |
COSMIC | POLR2G | COSMIC |
Ensembl Genes | ENSG00000168002 | Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL |
Ensembl Transcript | ENST00000301788 | ENTREZGENE |
ENST00000301788.12 | UniProtKB/Swiss-Prot | |
ENST00000524819.5 | UniProtKB/TrEMBL | |
ENST00000525455.5 | UniProtKB/TrEMBL | |
ENST00000531944.5 | UniProtKB/TrEMBL | |
ENST00000531996.5 | UniProtKB/TrEMBL | |
ENST00000533442.5 | UniProtKB/TrEMBL | |
Gene3D-CATH | 2.40.50.140 | UniProtKB/Swiss-Prot |
3.30.1490.120 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
GTEx | ENSG00000168002 | GTEx |
HGNC ID | HGNC:9194 | ENTREZGENE |
Human Proteome Map | POLR2G | Human Proteome Map |
InterPro | NA-bd_OB-fold | UniProtKB/Swiss-Prot |
RNA_pol_Rpb7-like_N_sf | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
Rpb7-like | UniProtKB/Swiss-Prot | |
Rpb7-like_N | UniProtKB/Swiss-Prot | |
S1_domain | UniProtKB/Swiss-Prot | |
KEGG Report | hsa:5436 | UniProtKB/Swiss-Prot |
NCBI Gene | 5436 | ENTREZGENE |
OMIM | 602013 | OMIM |
PANTHER | DNA-DIRECTED RNA POLYMERASE II SUBUNIT RPB7 | UniProtKB/Swiss-Prot |
PTHR12709 | UniProtKB/Swiss-Prot | |
Pfam | PF00575 | UniProtKB/Swiss-Prot |
SHS2_Rpb7-N | UniProtKB/Swiss-Prot | |
PharmGKB | PA33514 | PharmGKB |
SMART | SM00316 | UniProtKB/Swiss-Prot |
Superfamily-SCOP | SSF50249 | UniProtKB/Swiss-Prot |
SSF88798 | UniProtKB/Swiss-Prot, UniProtKB/TrEMBL | |
UniProt | B2R5C0 | ENTREZGENE |
E9PIU7_HUMAN | UniProtKB/TrEMBL | |
E9PKH3_HUMAN | UniProtKB/TrEMBL | |
E9PS03_HUMAN | UniProtKB/TrEMBL | |
H0YEE4_HUMAN | UniProtKB/TrEMBL | |
P52433 | ENTREZGENE | |
P62487 | ENTREZGENE | |
Q2M1Z4 | ENTREZGENE | |
RPB7_HUMAN | UniProtKB/Swiss-Prot | |
UniProt Secondary | B2R5C0 | UniProtKB/Swiss-Prot |
P52433 | UniProtKB/Swiss-Prot | |
Q2M1Z4 | UniProtKB/Swiss-Prot |
Date | Current Symbol | Current Name | Previous Symbol | Previous Name | Description | Reference | Status |
---|---|---|---|---|---|---|---|
2016-07-19 | POLR2G | RNA polymerase II subunit G | POLR2G | polymerase (RNA) II subunit G | Symbol and/or name change | 5135510 | APPROVED |
2016-03-07 | POLR2G | polymerase (RNA) II subunit G | POLR2G | polymerase (RNA) II (DNA directed) polypeptide G | Symbol and/or name change | 5135510 | APPROVED |