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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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RC3H2
ring finger and CCCH-type domains 2
Chromosome 9 · 9q33.2
NCBI Gene: 54542Ensembl: ENSG00000056586.16HGNC: HGNC:21461UniProt: A6NHN2
51PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
cell surfaceDNA bindingRNA stem-loop bindingRNA bindingfacial morphologyhemorrhoidbehaviorenthesopathy
✦AI Summary

RC3H2 encodes a multifunctional protein that serves as both an RNA-binding post-transcriptional regulator and E3 ubiquitin ligase. The protein binds to constitutive decay elements (CDEs) in target mRNAs, promoting their deadenylation and degradation independently of miRNAs 1. Structurally, RC3H2 contains ROQ and HEPN domains that undergo conformational changes to accommodate both stem-loop and double-stranded RNA binding 1. As an E3 ubiquitin ligase, RC3H2 pairs with multiple E2 enzymes to generate polyubiquitin chains and is involved in ubiquitinating MAP3K5/ASK1, thereby regulating stress responses and ROS-induced cell death 21. The protein plays critical roles in immune regulation, controlling inflammation by suppressing TNF expression in macrophages and preventing spontaneous T follicular helper cell differentiation. RC3H2 has been implicated in various disease contexts, including associations with cognitive function 3, cardiovascular disease risk 4, suicide attempt behavior 5, and osteoporosis regulation through ceRNA networks 6. Additionally, RC3H2 expression changes with aging in periodontal ligament stem cells, affecting their regenerative capacity 7, and responds to NB-UVB treatment in atopic dermatitis patients 8.

Sources cited
1
RC3H2 structure contains ROQ and HEPN domains, binds RNA, and functions as E3 ubiquitin ligase
PMID: 26489670
2
RC3H2 ubiquitinates MAP3K5/ASK1 and regulates stress responses
PMID: 24448648
3
RC3H2 rare variants associated with adult cognitive function
PMID: 37231097
4
RC3H2 associated with incident myocardial infarction risk
PMID: 33186364
5
RC3H2 variants enriched in individuals with suicide attempt history
PMID: 38141912
6
RC3H2 involved in osteoporosis through ceRNA regulatory networks
PMID: 37326104
7
RC3H2 expression changes with aging in periodontal ligament stem cells
PMID: 32727592
8
RC3H2 responds to NB-UVB treatment in atopic dermatitis patients
PMID: 39188927
Disease Associationsⓘ20
facial morphologyOpen Targets
0.26Weak
hemorrhoidOpen Targets
0.25Weak
behaviorOpen Targets
0.10Suggestive
enthesopathyOpen Targets
0.10Suggestive
aortic diseaseOpen Targets
0.09Suggestive
oral squamous cell carcinomaOpen Targets
0.08Suggestive
type 2 diabetes mellitusOpen Targets
0.07Suggestive
osteoarthritis, kneeOpen Targets
0.06Suggestive
hypertriglyceridemia 2Open Targets
0.05Suggestive
osteoarthritisOpen Targets
0.05Suggestive
familial hypercholesterolemiaOpen Targets
0.04Suggestive
Combined hyperlipidemiaOpen Targets
0.04Suggestive
osteoarthritis, hipOpen Targets
0.04Suggestive
pancreatic triacylglycerol lipase deficiencyOpen Targets
0.04Suggestive
homozygous familial hypercholesterolemiaOpen Targets
0.04Suggestive
thyroid hormone metabolism, abnormal, 2Open Targets
0.04Suggestive
sitosterolemia 2Open Targets
0.04Suggestive
22q11.2 deletion syndromeOpen Targets
0.03Suggestive
hyperlipidemia due to hepatic triglyceride lipase deficiencyOpen Targets
0.03Suggestive
familial apolipoprotein C-II deficiencyOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
KLHL6Protein interaction79%HELZProtein interaction78%NUFIP2Protein interaction78%CNOT1Protein interaction76%CNOT7Protein interaction76%CNOT2Protein interaction75%
Tissue Expression6 tissues
Brain
100%
Heart
83%
Lung
59%
Ovary
52%
Bone Marrow
51%
Liver
41%
Gene Interaction Network
Click a node to explore
RC3H2KLHL6HELZNUFIP2CNOT1CNOT7CNOT2
PROTEIN STRUCTURE
Preparing viewer…
PDB4ZLD · 1.60 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.22 [0.16–0.31]
RankingsWhere RC3H2 stands among ~20K protein-coding genes
  • #8,721of 20,598
    Most Researched51
  • #1,214of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedRC3H2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
The impact of rare protein coding genetic variation on adult cognitive function.
PMID: 37231097
Nat Genet · 2023
1.00
2
Construction of ceRNA regulatory networks for osteoporosis.
PMID: 37326104
Mol Med Rep · 2023
0.90
3
New Insights into the RNA-Binding and E3 Ubiquitin Ligase Activities of Roquins.
PMID: 26489670
Sci Rep · 2015
0.80
4
The effect of aging on the biological and immunological characteristics of periodontal ligament stem cells.
PMID: 32727592
Stem Cell Res Ther · 2020
0.70
5
Roquin-2 promotes ubiquitin-mediated degradation of ASK1 to regulate stress responses.
PMID: 24448648
Sci Signal · 2014
0.60