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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RNF220
ring finger protein 220
Chromosome 1 · 1p34.1
NCBI Gene: 55182Ensembl: ENSG00000187147.20HGNC: HGNC:25552UniProt: Q5VTB9
55PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of canonical Wnt signaling pathwaynucleusnuclear laminaleukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathyleukodystrophyAtaxiacerebellar ataxia
✦AI Summary

RNF220 is a RING-type E3 ubiquitin ligase with pleiotropic roles in neural development and disease. As an E3 ligase, RNF220 mediates polyubiquitination and proteasomal degradation of multiple substrates including WDR5, EED, and PDE10A 123. Independently of its canonical ligase activity, RNF220 stabilizes β-catenin through USP7-mediated deubiquitination, promoting Wnt signaling 2. During oligodendroglial development, RNF220 catalyzes K63-linked polyubiquitination of Olig1/2 transcription factors, promoting their stabilization and essential for myelination 4. RNF220 regulates Sonic hedgehog (Shh) signaling during cerebellar and hindbrain development through modulation of Gli proteins and epigenetic regulators 251. RNF220 loss inhibits neural stem cell proliferation while promoting neuronal differentiation 6. In cancer, RNF220 overexpression drives cisplatin resistance and immune evasion in bladder cancer through PDE10A degradation 3, and promotes Shh-medulloblastoma progression 7. Clinically, RNF220 mutations cause hypomyelinating leukodystrophy with ataxia, deafness, and cardiac dysfunction 4, while mutations cause small sperm head defects 8. RNF220 protein stability is regulated by RLIM and ZC4H2 5.

Sources cited
1
RNF220 mutations cause small sperm head morphological abnormalities
PMID: 39417902
2
RNF220 mediates PDE10A K48-linked ubiquitination and degradation; RNF220 overexpression promotes cisplatin resistance and immune evasion in bladder cancer
PMID: 40158470
3
Smurf1/2 mediate RNF220 polyubiquitination and degradation; RNF220 is required for sustained Shh signaling in medulloblastoma
PMID: 37537194
4
RNF220 mediates WDR5 polyubiquitination and degradation; RNF220 regulates Hox gene expression patterns in hindbrain development
PMID: 39526890
5
Loss of RNF220 inhibits neural stem cell proliferation and promotes neuronal differentiation through Cend1 upregulation
PMID: 32630355
6
RNF220 stabilizes β-catenin and STAT1; RNF220 regulates Shh, Wnt, and IFN signaling in neural development and immune response
PMID: 34716995
7
RNF220 catalyzes K63-linked polyubiquitination of Olig1/2 for stabilization during oligodendroglial development; RNF220R365Q mutation causes leukodystrophy with myelination defects
PMID: 38324685
8
RNF220 is stabilized by RLIM and ZC4H2; RNF220 is required for Shh signaling activation during cerebellar development and medulloblastoma progression
PMID: 35040952
Disease Associationsⓘ21
leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathyOpen Targets
0.58Moderate
leukodystrophyOpen Targets
0.38Weak
AtaxiaOpen Targets
0.37Weak
Abnormal corpus callosum morphologyOpen Targets
0.37Weak
cerebellar ataxiaOpen Targets
0.37Weak
Sensorineural hearing impairmentOpen Targets
0.37Weak
bone remodeling diseaseOpen Targets
0.28Weak
epistaxisOpen Targets
0.28Weak
Genu valgumOpen Targets
0.27Weak
Genu varumOpen Targets
0.27Weak
Intellectual disabilityOpen Targets
0.19Weak
ulcerative colitisOpen Targets
0.19Weak
dilated cardiomyopathyOpen Targets
0.18Weak
exostosisOpen Targets
0.11Weak
amyotrophic lateral sclerosisOpen Targets
0.10Suggestive
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
Mobius syndromeOpen Targets
0.08Suggestive
acute myeloid leukemiaOpen Targets
0.08Suggestive
colorectal cancerOpen Targets
0.07Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.07Suggestive
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathyUniProt
Pathogenic Variants2
NM_018150.4(RNF220):c.1094G>A (p.Arg365Gln)Pathogenic
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
★★☆☆2024→ Residue 365
NM_018150.4(RNF220):c.1088G>A (p.Arg363Gln)Pathogenic
Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy
☆☆☆☆2023→ Residue 363
View on ClinVar ↗
Related Genes
ZC4H2Protein interaction68%UBE3DShared pathway43%RNF10Shared pathway30%OBI1Shared pathway29%RNF183Shared pathway25%UBE2R2Shared pathway25%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
92%
Ovary
61%
Lung
52%
Liver
51%
Heart
51%
Gene Interaction Network
Click a node to explore
RNF220ZC4H2UBE3DRNF10OBI1RNF183UBE2R2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5VTB9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.17Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.09 [0.05–0.17]
RankingsWhere RNF220 stands among ~20K protein-coding genes
  • #8,246of 20,598
    Most Researched55
  • #4,420of 5,498
    Most Pathogenic Variants2
  • #314of 17,882
    Most Constrained (LOEUF)0.17 · top 5%
Genes detectedRNF220
Sources retrieved10 papers
Response time—
📄 Sources
10â–¼
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet · 2024
1.00
2
N6-methyladenosine-modified RNF220 induces cisplatin resistance and immune escape via regulating PDE10A K48-linked ubiquitination in bladder cancer.
PMID: 40158470
Biochem Pharmacol · 2025
0.90
3
Smurf1 and Smurf2 mediated polyubiquitination and degradation of RNF220 suppresses Shh-group medulloblastoma.
PMID: 37537194
Cell Death Dis · 2023
0.80
4
The E3 ubiquitin ligase RNF220 maintains hindbrain
PMID: 39526890
Elife · 2024
0.70
5
Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation.
PMID: 32630355
Cells · 2020
0.60