POLR2A (RNA polymerase II subunit A)

2007-02-01 Affiliation

Identity

HGNC

POLR2A

LOCATION

17p13.1

LOCUSID

5430

ALIAS

NEDHIB,POLR2,POLRA,RPB1,RPBh1,RPO2,RPOL2,RpIILS,hRPB220,hsRPB1

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5430
MIM: 180660
HGNC: 9187
Ensembl: ENSG00000181222

Variants:

dbSNP: 5430
ClinVar: 5430
TCGA: ENSG00000181222
COSMIC: POLR2A

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000181222	ENST00000572844	P24928

Expression (GTEx)

100

150

200

250

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Purine metabolism	KEGG	ko00230
Pyrimidine metabolism	KEGG	ko00240
RNA polymerase	KEGG	ko03020
Huntington's disease	KEGG	ko05016
Purine metabolism	KEGG	hsa00230
Pyrimidine metabolism	KEGG	hsa00240
RNA polymerase	KEGG	hsa03020
Huntington's disease	KEGG	hsa05016
Metabolic pathways	KEGG	hsa01100
Herpes simplex infection	KEGG	ko05168
Herpes simplex infection	KEGG	hsa05168
RNA polymerase II, eukaryotes	KEGG	hsa_M00180
Epstein-Barr virus infection	KEGG	hsa05169
Epstein-Barr virus infection	KEGG	ko05169
RNA polymerase II, eukaryotes	KEGG	M00180
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
Signaling by FGFR in disease	REACTOME	R-HSA-1226099
Signaling by FGFR2 in disease	REACTOME	R-HSA-5655253
FGFR2 mutant receptor activation	REACTOME	R-HSA-1839126
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
HIV Life Cycle	REACTOME	R-HSA-162587
Late Phase of HIV Life Cycle	REACTOME	R-HSA-162599
Transcription of the HIV genome	REACTOME	R-HSA-167172
HIV Transcription Initiation	REACTOME	R-HSA-167161
RNA Polymerase II HIV Promoter Escape	REACTOME	R-HSA-167162
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	REACTOME	R-HSA-167160
HIV Transcription Elongation	REACTOME	R-HSA-167169
Formation of the HIV-1 Early Elongation Complex	REACTOME	R-HSA-167158
Tat-mediated elongation of the HIV-1 transcript	REACTOME	R-HSA-167246
Formation of HIV-1 elongation complex containing HIV-1 Tat	REACTOME	R-HSA-167200
Abortive elongation of HIV-1 transcript in the absence of Tat	REACTOME	R-HSA-167242
HIV elongation arrest and recovery	REACTOME	R-HSA-167287
Formation of HIV elongation complex in the absence of HIV Tat	REACTOME	R-HSA-167152
Pausing and recovery of HIV elongation	REACTOME	R-HSA-167290
Tat-mediated HIV elongation arrest and recovery	REACTOME	R-HSA-167243
Pausing and recovery of Tat-mediated HIV elongation	REACTOME	R-HSA-167238
Influenza Infection	REACTOME	R-HSA-168254
Influenza Life Cycle	REACTOME	R-HSA-168255
Influenza Viral RNA Transcription and Replication	REACTOME	R-HSA-168273
Viral Messenger RNA Synthesis	REACTOME	R-HSA-168325
Signal Transduction	REACTOME	R-HSA-162582
Signaling by FGFR	REACTOME	R-HSA-190236
Signaling by FGFR2	REACTOME	R-HSA-5654738
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
RNA Polymerase II Transcription	REACTOME	R-HSA-73857
RNA Polymerase II Pre-transcription Events	REACTOME	R-HSA-674695
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	REACTOME	R-HSA-73779
RNA Polymerase II Transcription Initiation And Promoter Clearance	REACTOME	R-HSA-76042
RNA Polymerase II Transcription Initiation	REACTOME	R-HSA-75953
RNA Polymerase II Promoter Escape	REACTOME	R-HSA-73776
RNA Pol II CTD phosphorylation and interaction with CE	REACTOME	R-HSA-77075
RNA Polymerase II Transcription Elongation	REACTOME	R-HSA-75955
Formation of the Early Elongation Complex	REACTOME	R-HSA-113418
Formation of RNA Pol II elongation complex	REACTOME	R-HSA-112382
mRNA Capping	REACTOME	R-HSA-72086
Processing of Capped Intron-Containing Pre-mRNA	REACTOME	R-HSA-72203
mRNA Splicing	REACTOME	R-HSA-72172
mRNA Splicing - Major Pathway	REACTOME	R-HSA-72163
mRNA Splicing - Minor Pathway	REACTOME	R-HSA-72165
Gene Silencing by RNA	REACTOME	R-HSA-211000
MicroRNA (miRNA) biogenesis	REACTOME	R-HSA-203927
Transcriptional regulation by small RNAs	REACTOME	R-HSA-5578749
PIWI-interacting RNA (piRNA) biogenesis	REACTOME	R-HSA-5601884
Developmental Biology	REACTOME	R-HSA-1266738
Transcriptional regulation of pluripotent stem cells	REACTOME	R-HSA-452723
DNA Repair	REACTOME	R-HSA-73894
Nucleotide Excision Repair	REACTOME	R-HSA-5696398
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	REACTOME	R-HSA-6781827
Formation of TC-NER Pre-Incision Complex	REACTOME	R-HSA-6781823
Dual incision in TC-NER	REACTOME	R-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NER	REACTOME	R-HSA-6782210
Activation of HOX genes during differentiation	REACTOME	R-HSA-5619507
Activation of anterior HOX genes in hindbrain development during early embryogenesis	REACTOME	R-HSA-5617472
FGFR2 alternative splicing	REACTOME	R-HSA-6803529
Signaling by FGFR2 IIIa TM	REACTOME	R-HSA-8851708
TP53 Regulates Transcription of DNA Repair Genes	REACTOME	R-HSA-6796648
RNA polymerase II transcribes snRNA genes	REACTOME	R-HSA-6807505

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA443622	Carcinoma, Non-Small-Cell Lung	Disease	ClinicalAnnotation	associated		PD
PA449748	gemcitabine	Chemical	ClinicalAnnotation	associated		PD

References

Pubmed ID	Year	Title	Citations
38380947	2024	POLR2A Mutation is a Poor Prognostic Marker of Cerebellopontine Angle Meningioma.	0
38380947	2024	POLR2A Mutation is a Poor Prognostic Marker of Cerebellopontine Angle Meningioma.	0
37371461	2023	HIV-1 Transcriptional Activator Tat Inhibits IL2 Expression by Preventing the Presence of Pol II on the IL2 Promoter.	1
37371461	2023	HIV-1 Transcriptional Activator Tat Inhibits IL2 Expression by Preventing the Presence of Pol II on the IL2 Promoter.	1
35093879	2022	Micro-RNA378a-3p Induces Apoptosis in Sarcomatoid Renal Cell Carcinoma and Regulates POLR2A and RUNX2 Expression.	1
35398178	2022	CircPOLR2A Promotes Proliferation and Impedes Apoptosis of Glioblastoma Multiforme Cells by Up-regulating POU3F2 to Facilitate SOX9 Transcription.	2
35687106	2022	ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.	3
36360188	2022	DNA Damage-Induced RNAPII Degradation and Its Consequences in Gene Expression.	2
36463234	2022	ERK-mediated NELF-A phosphorylation promotes transcription elongation of immediate-early genes by releasing promoter-proximal pausing of RNA polymerase II.	4
35093879	2022	Micro-RNA378a-3p Induces Apoptosis in Sarcomatoid Renal Cell Carcinoma and Regulates POLR2A and RUNX2 Expression.	1
35398178	2022	CircPOLR2A Promotes Proliferation and Impedes Apoptosis of Glioblastoma Multiforme Cells by Up-regulating POU3F2 to Facilitate SOX9 Transcription.	2
35687106	2022	ARMC5 is part of an RPB1-specific ubiquitin ligase implicated in adrenal hyperplasia.	3
36360188	2022	DNA Damage-Induced RNAPII Degradation and Its Consequences in Gene Expression.	2
36463234	2022	ERK-mediated NELF-A phosphorylation promotes transcription elongation of immediate-early genes by releasing promoter-proximal pausing of RNA polymerase II.	4
33298525	2021	Elongin A regulates transcription in vivo through enhanced RNA polymerase processivity.	8

Citation

Dessen P

POLR2A (RNA polymerase II subunit A)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/45769/polr2a-(rna-polymerase-ii-subunit-a)