RNF20

RNF20

<div class="infobox infobox-gene">
<span class="infobox-title">RNF20</span>
<table>
<tr><th>Full Name</th><td>Ring Finger Protein 20</td></tr>
<tr><th>Chromosomal Location</th><td>9q34.3</td></tr>
<tr><th>NCBI Gene ID</th><td>56254</td></tr>
<tr><th>OMIM</th><td>607683</td></tr>
<tr><th>Ensembl ID</th><td>ENSG00000146727</td></tr>
<tr><th>UniProt ID</th><td>Q5VTL2</td></tr>
<tr><th>Protein</th><td>RNF20 protein</td></tr>
<tr><th>Associated Diseases</th><td>Colon cancer, Breast cancer, Gastric cancer, Prostate cancer</td></tr>
</table>
</div>

Overview

RNF20 (Ring Finger Protein 20) is an E3 ubiquitin-protein ligase encoded by the RNF20 gene located on chromosome 9q34.3[@kim2009]. This enzyme catalyzes the monoubiquitination of histone H2B at Lys120 (H2B-K120ub1), an epigenetic modification with profound implications for transcription regulation, DNA repair, and chromosome dynamics[@minsky2008]. RNF20-mediated H2B ubiquitination is a key driver of transcriptional elongation and has been implicated in various cancers including colon, breast, gastric, and prostate cancers.

The loss of RNF20 expression has been observed in multiple tumor types, suggesting a tumor suppressor function. RNF20-mediated H2B ubiquitination facilitates the recruitment of elongation factors and promotes productive transcription. Additionally, this modification plays roles in DNA damage response and checkpoint activation, making it an important regulator of genomic stability[@pavri2006].

RNF20

<div class="infobox infobox-gene">
<span class="infobox-title">RNF20</span>
<table>
<tr><th>Full Name</th><td>Ring Finger Protein 20</td></tr>
<tr><th>Chromosomal Location</th><td>9q34.3</td></tr>
<tr><th>NCBI Gene ID</th><td>56254</td></tr>
<tr><th>OMIM</th><td>607683</td></tr>
<tr><th>Ensembl ID</th><td>ENSG00000146727</td></tr>
<tr><th>UniProt ID</th><td>Q5VTL2</td></tr>
<tr><th>Protein</th><td>RNF20 protein</td></tr>
<tr><th>Associated Diseases</th><td>Colon cancer, Breast cancer, Gastric cancer, Prostate cancer</td></tr>
</table>
</div>

Overview

RNF20 (Ring Finger Protein 20) is an E3 ubiquitin-protein ligase encoded by the RNF20 gene located on chromosome 9q34.3[@kim2009]. This enzyme catalyzes the monoubiquitination of histone H2B at Lys120 (H2B-K120ub1), an epigenetic modification with profound implications for transcription regulation, DNA repair, and chromosome dynamics[@minsky2008]. RNF20-mediated H2B ubiquitination is a key driver of transcriptional elongation and has been implicated in various cancers including colon, breast, gastric, and prostate cancers.

The loss of RNF20 expression has been observed in multiple tumor types, suggesting a tumor suppressor function. RNF20-mediated H2B ubiquitination facilitates the recruitment of elongation factors and promotes productive transcription. Additionally, this modification plays roles in DNA damage response and checkpoint activation, making it an important regulator of genomic stability[@pavri2006].

Function

Function

RNF20 is an E3 ubiquitin-protein ligase that catalyzes monoubiquitination of histone H2B at Lys120 (H2B-K120ub1)[@kim2009]. This epigenetic modification plays crucial roles in transcription regulation, DNA repair, and chromosome dynamics.

Key Molecular Functions

• H2B ubiquitination: Catalyzes H2B K120ub1, a modification associated with active transcription[@minsky2008]
• Transcriptional elongation: H2B-K120ub1 facilitates RNA Pol II passage through chromatin[@pavri2006]
• DNA damage response: H2B ubiquitination promotes homologous recombination repair[@moyal2011]
• p53 regulation: RNF20 modulates p53 activity through H2B ubiquitination[@shema2008]

• BRE1A/B (RNF40), the E3 ligase partner
• WAC, a cofactor that stimulates RNF20 activity[@kim2009a]
• PAF1 complex, linking ubiquitination to transcriptional elongation[@wu2010]

Disease Associations

Cancer

• Colorectal cancer: RNF20 frequently downregulated; tumor suppressor function[@tarcic2012]
• Breast cancer: RNF20 expression correlates with prognosis; loss promotes metastasis[@zhang2015]
• Gastric cancer: RNF20 reduced in aggressive subtypes[@liu2015]
• Prostate cancer: Androgen receptor-mediated repression of RNF20 promotes progression[@zhu2015]

Neurodegeneration

• Alzheimer's disease: RNF20/H2B-K120ub1 axis dysregulated in AD; affects neuronal gene expression[@zhang2017]
• Huntington's disease: RNF20-mediated chromatin changes in HD models[@ratovitski2015]
• Parkinson's disease: Transcriptional dysregulation involves altered H2B ubiquitination[@hwang2013]

Expression

RNF20 is ubiquitously expressed with tissue-specific variations[@gtex]:

• High expression: Testis, bone marrow, brain
• Moderate expression: Liver, kidney, lung

• [Neurons](/entities/neurons) throughout [cortex](/brain-regions/cortex) and [hippocampus](/brain-regions/hippocampus)
• Glial cells
• Expression regulated during neural development and aging

Therapeutic Implications

• Epigenetic therapy: RNF20 modulators may restore H2B-K120ub1 balance in cancer[@zhang2015a]
• Combination therapy: RNF20-targeting with BET inhibitors shows synergy[@shi2016]
• Neuroprotection: Understanding RNF20's role may lead to AD/HD therapeutics[@day2016]

Pathway & Interaction Diagram

Interactive diagram showing RNF20's key relationships in the SciDEX knowledge graph (8 connections shown).

See Also

• [RNF40](/genes/rnf40) - Partner E3 ligase
• [H2B](/entities/histone-h2b) - Substrate
• [Epigenetic Regulation](/mechanisms/epigenetic-regulation) - Pathway
• [Transcription](/mechanisms/transcription-dysregulation) - Related mechanism

External Links

• [NCBI Gene: RNF20](https://www.ncbi.nlm.nih.gov/gene/56254)
• [UniProt: Q5VTL2](https://www.uniprot.org/uniprot/Q5VTL2)
• [OMIM: 607683](https://www.omim.org/entry/607683)

References

Pathway Diagram

The following diagram shows the key molecular relationships involving RNF20 discovered through SciDEX knowledge graph analysis: