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.
RNF212
ring finger protein 212
Chromosome 4 · 4p16.3
NCBI Gene: 285498Ensembl: ENSG00000178222.14HGNC: HGNC:27729UniProt: A0A8V8TN20
14PubMed Papers
21Diseases
0Drugs
0Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chiasma assemblySUMO transferase activitymeiotic gene conversionhomologous chromosome pairing at meiosisspermatogenic failure 62male infertility with azoospermia or oligozoospermia due to single gene mutationatrial fibrillationhyperparathyroidism
✦AI Summary

RNF212 is a SUMO E3 ligase that plays critical roles in meiotic crossover formation and oocyte quality control. During meiosis, RNF212 localizes to recombination sites where it stabilizes pro-crossover factors including the MutSγ complex proteins MSH4 and MSH5, and TEX11 1. RNF212 acts as a limiting factor for crossover designation and works antagonistically with the ubiquitin ligase HEI10 to regulate the crossover/non-crossover decision at recombination sites 1. RNF212 functions in partnership with its paralog RNF212B, with both proteins essential for crossover maturation through their distinct E3 ligase activities 2. Beyond crossover formation, RNF212 mediates oocyte quality control by sensitizing oocytes to DNA double-strand break-induced apoptosis during chromosome 4, enabling elimination of defective gametes 3. Mutations in RNF212 cause male infertility with meiotic arrest, with genetic variants showing association with azoospermia in human populations 45. The protein also shows associations with maternal meiotic aneuploidy risk through effects on crossover recombination 6. RNF212's dual function in crossover formation and quality control makes it essential for reproductive success in both sexes.

Sources cited
1
RNF212 is a SUMO ligase that stabilizes pro-crossover factors and works antagonistically with HEI10
PMID: 24390283
2
RNF212 and RNF212B work together as E3 ligases essential for crossover maturation
PMID: 38865271
3
RNF212 mediates oocyte quality control by sensitizing oocytes to DNA break-induced apoptosis
PMID: 30270110
4
RNF212 genetic variants are associated with azoospermia in human populations
PMID: 29277047
5
RNF212 mutations cause male infertility with meiotic arrest
PMID: 31125047
6
RNF212 variants are associated with maternal meiotic aneuploidy risk
PMID: 41565805
Disease Associationsⓘ21
spermatogenic failure 62Open Targets
0.39Weak
male infertility with azoospermia or oligozoospermia due to single gene mutationOpen Targets
0.39Weak
atrial fibrillationOpen Targets
0.31Weak
hyperparathyroidismOpen Targets
0.28Weak
Down syndromeOpen Targets
0.19Weak
frozen shoulderOpen Targets
0.15Weak
azoospermiaOpen Targets
0.14Weak
leg injuryOpen Targets
0.12Weak
breast ductal adenocarcinomaOpen Targets
0.11Weak
partial chromosome Y deletionOpen Targets
0.08Suggestive
osteoarthritis, kneeOpen Targets
0.07Suggestive
osteoarthritis, hipOpen Targets
0.06Suggestive
spermatogenic failure 50Open Targets
0.06Suggestive
spermatogenic failure 57Open Targets
0.06Suggestive
spermatogenic failure 25Open Targets
0.06Suggestive
spermatogenic failure 71Open Targets
0.06Suggestive
congenital bilateral absence of vas deferensOpen Targets
0.06Suggestive
isochromosomy YpOpen Targets
0.06Suggestive
spermatogenic failure, X-linked, 2Open Targets
0.06Suggestive
spinocerebellar ataxia type 32Open Targets
0.06Suggestive
Spermatogenic failure 62UniProt
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RAD51Protein interaction97%MSH4Protein interaction82%REC8Protein interaction82%SPO11Protein interaction82%TEX11Protein interaction82%CNTD1Protein interaction82%
Tissue Expression6 tissues
Ovary
100%
Brain
46%
Lung
14%
Bone Marrow
7%
Liver
5%
Heart
5%
Gene Interaction Network
Click a node to explore
RNF212RAD51MSH4REC8SPO11TEX11CNTD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q495C1
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.35LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.82 [0.51–1.35]
RankingsWhere RNF212 stands among ~20K protein-coding genes
  • #15,985of 20,598
    Most Researched14
  • #14,105of 17,882
    Most Constrained (LOEUF)1.35
Genes detectedRNF212
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
1.00
2
Common variation in meiosis genes shapes human recombination and aneuploidy.
PMID: 41565805
Nature · 2026
0.90
3
Association of the common SNPs in RNF212, STAG3 and RFX2 gene with male infertility with azoospermia in Chinese population.
PMID: 29277047
Eur J Obstet Gynecol Reprod Biol · 2018
0.80
4
RNF212B E3 ligase is essential for crossover designation and maturation during male and female meiosis in the mouse.
PMID: 38865271
Proc Natl Acad Sci U S A · 2024
0.70
5
Sequencing of a 'mouse azoospermia' gene panel in azoospermic men: identification of RNF212 and STAG3 mutations as novel genetic causes of meiotic arrest.
PMID: 31125047
Hum Reprod · 2019
0.60