RNF4 Gene - Ring Finger Protein 4

A key SUMO-targeted ubiquitin ligase involved in DNA repair and cancer

Gene Information Card

Symbol RNF4
Full Name Ring Finger Protein 4
Gene Type Protein coding
Chromosomal Location 4p16.3
NCBI Gene ID 6047 ncbi.nlm.nih.gov/gene/6047
Ensembl ID ENSG00000138674
UniProt ID P78317
OMIM ID 602866
HGNC ID 10067
Aliases SNURF, RES4-26, SLX5

Description

RNF4 encodes a member of the RING finger protein family that functions as a SUMO-targeted ubiquitin ligase (STUbL). It specifically recognizes SUMOylated proteins and promotes their ubiquitination and subsequent proteasomal degradation. RNF4 plays critical roles in DNA damage response, homologous recombination repair, and maintenance of genome stability. It is also involved in transcriptional regulation and spermatogenesis.

Disease Associations

Disease category Pathophysiological mechanism Genomic evidence
Prostate Cancer RNF4 overexpression promotes androgen receptor signaling and tumor growth PMID: 23994610
Acute Myeloid Leukemia RNF4 mutations contribute to leukemogenesis via impaired DNA repair PMID: 28453785
Colorectal Cancer RNF4 loss-of-function mutations linked to genomic instability PMID: 27387371

Expression Profile

Tissue Expression
Tissue nTPM level
Testis 35.2 High
Bone Marrow 18.7 Medium
Lymph Node 15.3 Medium
Brain 8.1 Low
Liver 6.4 Low
Cell Line Expression
Cell Line nTPM Notes
HeLa 22.5 Cervical cancer cell line
K562 19.8 Leukemia cell line
HEK293 14.2 Embryonic kidney cells
MCF7 11.6 Breast cancer cell line
Data source：Human Protein Atlas（proteinatlas.org）

Mutations & Variants

Hotspot Mutations
Variant Type Frequency Functional Description
c.341G>A (p.Arg114Gln) Missense 0.02% Loss of ubiquitin ligase activity
c.502C>T (p.Arg168Trp) Missense 0.01% Impaired SUMO binding
c.1A>G (p.Met1Val) Start loss <0.01% Loss of protein expression
Mutation functional classification

Loss of Function (LOF)

Missense mutations in the RING domain (e.g., p.Arg114Gln) abolish E3 ubiquitin ligase activity, impairing SUMO-targeted degradation.

Gain of Function (GOF)

Not well characterized; overexpression in prostate cancer may confer gain-of-function by enhancing AR signaling.

Dominant Negative (DN)

Truncating mutations or those disrupting SUMO interaction may act as dominant negatives by sequestering SUMOylated substrates.
View complete mutation data：
ClinVar：https://www.clinvar.com/gene/6047
COSMIC：https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RNF4

Gene Ontology (GO)

• ubiquitin-protein transferase activity (GO:0004842) • SUMO transferase activity (GO:0019789)
• damaged DNA binding (GO:0003684) • DNA repair (GO:0006281)
• ubiquitin-dependent protein catabolic process (GO:0006511) • nucleus (GO:0005634)

Pathways

• SUMOylation and ubiquitination crosstalk
• Homologous recombination repair
• p53 signaling pathway
• Androgen receptor signaling

Protein Summary

RNF4 is a 190-amino acid protein containing an N-terminal SUMO-interacting motif (SIM) and a C-terminal RING finger domain. It acts as a SUMO-targeted ubiquitin ligase (STUbL), recognizing SUMOylated proteins and catalyzing their ubiquitination. This activity is essential for the resolution of DNA repair foci, transcriptional regulation, and proteostasis. RNF4 is highly expressed in testis and bone marrow, and its dysregulation is implicated in several cancers.

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Related Products

Product name Cat.No. Species Gene ID
RNF4 Knockout HEK293 Cell Line EDJ-KQ2072 Human 6047 Details Get a Quote
RNF41 Knockout HEK293 Cell Line EDJ-KQ2192 Human 10193 Details Get a Quote
RNF44 Knockout HEK293 Cell Line EDJ-KQ6999 Human 22838 Details Get a Quote
RNF43 Knockout HEK293 Cell Line EDJ-KQ12180 Human 54894 Details Get a Quote
RNF43 Knockout HeLa Cell Line EDJ-KQ18150 Human 54894 Details Get a Quote
RNF4 Knockout HCT 116 Cell Line EDJ-KQ22149 Human 6047 Details Get a Quote
RNF4 Knockout HeLa Cell Line EDJ-KQ22150 Human 6047 Details Get a Quote
RNF44 Knockout A-549 Cell Line EDJ-KQ33051 Human 22838 Details Get a Quote
RNF44 Knockout HCT 116 Cell Line EDJ-KQ33052 Human 22838 Details Get a Quote
RNF44 Knockout HeLa Cell Line EDJ-KQ33053 Human 22838 Details Get a Quote
RNF4 Knockout A-549 Cell Line EDJ-KQ20855 Human 6047 Details Get a Quote
RNF41 Knockout A-549 Cell Line EDJ-KQ22420 Human 10193 Details Get a Quote
RNF41 Knockout HCT 116 Cell Line EDJ-KQ22421 Human 10193 Details Get a Quote
RNF41 Knockout HeLa Cell Line EDJ-KQ22422 Human 10193 Details Get a Quote
RNF43 Knockout A-549 Cell Line EDJ-KQ40898 Human 54894 Details Get a Quote
Displaying Records 1 To 15 Of 19 Records

Reference Databases

NCBI Gene https://www.ncbi.nlm.nih.gov/gene/6047
OMIM https://www.omim.org/entry/602866
HGNC https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:10067
Ensembl https://www.ensembl.org/Homo_sapiens/Gene/Summary?g=ENSG00000138674
UniProt https://www.uniprot.org/uniprot/P78317
ClinVar https://www.ncbi.nlm.nih.gov/clinvar/?term=RNF4%5Bgene%5D
COSMIC https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=RNF4
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