HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
POLR2J
RNA polymerase II subunit J
Chromosome 7 · 7q22.1
NCBI Gene: 5439Ensembl: ENSG00000005075.17HGNC: HGNC:9197UniProt: P52435
142PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Hub Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
transcription initiation at RNA polymerase II promoterRNA polymerase II, core complexprotein bindingLRR domain bindingHIV infectiondengue diseaseinfluenzaacrocephalosyndactyly
✦AI Summary

POLR2J encodes RNA polymerase II subunit J (hRPB11), a core component of RNA polymerase II that synthesizes mRNA precursors and functional non-coding RNAs 1. The POLR2J gene family consists of multiple genes (POLR2J1-4) located on human chromosome 7, producing at least 14 different mRNA isoforms through alternative splicing 2. These isoforms show functional diversity: the hRPB11bα isoform specifically interacts with transcription factor ATF4, enhancing its transcriptional activation by 2.5-fold through direct contact without requiring Mediator complex involvement 1. Another minor isoform, hRPB11cα, interacts with translation initiation factor eIF3 subunits (eIF3a, eIF3i, eIF3m), suggesting coordination between transcription and downstream gene expression processes 3. POLR2J has emerged as a disease-relevant gene, identified as a potential oncogene in basal-like breast cancer with driver mutations in its promoter region 4. The gene also shows associations with immune-mediated necrotizing myopathy, cryptorchidism, and sepsis through bioinformatics analyses 567. The POLR2J gene family serves as a molecular marker for higher primate evolution, with its structure correlating with anthropogenesis stages 8.

Sources cited
1
POLR2J encodes core RNA polymerase II component; hRPB11bα isoform interacts with ATF4 for transcriptional activation
PMID: 31878192
2
POLR2J gene family consists of 4 genes on chromosome 7 producing 14 mRNA isoforms
PMID: 15586814
3
hRPB11cα isoform interacts with eIF3 subunits linking transcription to translation
PMID: 22022972
4
POLR2J identified as potential oncogene in basal-like breast cancer
PMID: 37551622
5
POLR2J associated with immune-mediated necrotizing myopathy
PMID: 37743820
6
POLR2J identified as hub gene associated with cryptorchidism
PMID: 41255033
7
POLR2J identified as biomarker linking sepsis to purine metabolism
PMID: 39747316
8
POLR2J gene family serves as molecular marker for primate evolution
PMID: 21061629
Disease Associationsⓘ20
HIV infectionOpen Targets
0.60Moderate
acrocephalosyndactylyOpen Targets
0.37Weak
dengue diseaseOpen Targets
0.37Weak
influenzaOpen Targets
0.37Weak
glioblastoma multiformeOpen Targets
0.04Suggestive
SepsisOpen Targets
0.04Suggestive
diabetes mellitusOpen Targets
0.03Suggestive
neoplasmOpen Targets
0.01Suggestive
glioblastomaOpen Targets
0.01Suggestive
papillary thyroid carcinomaOpen Targets
0.01Suggestive
ulcerative colitisOpen Targets
0.01Suggestive
cancerOpen Targets
0.01Suggestive
myeloid sarcomaOpen Targets
0.00Suggestive
rectal neoplasmOpen Targets
0.00Suggestive
Bartsocas-Papas syndrome 1Open Targets
0.00Suggestive
breast cancerOpen Targets
0.00Suggestive
gastric cancerOpen Targets
0.00Suggestive
Huntington diseaseOpen Targets
0.00Suggestive
Parkinson diseaseOpen Targets
0.00Suggestive
viral diseaseOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
CDK7Protein interaction100%GTF2A1Protein interaction100%GTF2A2Protein interaction100%GTF2BProtein interaction100%GTF2E1Protein interaction100%GTF2E2Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
71%
Brain
68%
Ovary
65%
Lung
60%
Bone Marrow
51%
Gene Interaction Network
Click a node to explore
POLR2JCDK7GTF2A1GTF2A2GTF2BGTF2E1GTF2E2
PROTEIN STRUCTURE
Preparing viewer…
PDB9EHZ · 2.60 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.89LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF1.34 [0.84–1.89]
RankingsWhere POLR2J stands among ~20K protein-coding genes
  • #3,231of 20,598
    Most Researched142 · top quartile
  • #17,140of 17,882
    Most Constrained (LOEUF)1.89
Genes detectedPOLR2J
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The Human Isoform of RNA Polymerase II Subunit hRPB11bα Specifically Interacts with Transcription Factor ATF4.
PMID: 31878192
Int J Mol Sci · 2019
1.00
2
[New genes on human chromosome 7: bioinformatic analysis of a gene cluster from the POLR2J family].
PMID: 15586814
Bioorg Khim · 2004
0.90
3
[PSM2 and POLR2J gene families as molecular markers of the higher primate evolution].
PMID: 21061629
Genetika · 2010
0.80
4
A workflow to study mechanistic indicators for driver gene prediction with Moonlight.
PMID: 37551622
Brief Bioinform · 2023
0.70
5
Comprehensive transcriptomic analysis and machine learning reveal unique gene expression profiles in patients with immune-mediated necrotizing myopathy.
PMID: 37743820
J Gene Med · 2024
0.60