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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ARMC3
armadillo repeat containing 3
Chromosome 10 · 10p12.2
NCBI Gene: 219681Ensembl: ENSG00000165309.14HGNC: HGNC:30964UniProt: B4DXS3
19PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
extracellular exosomespermatid developmentflagellated sperm motilityribophagyneurodegenerative diseaseglomerulonephritisinfectious meningitissecondary malignant neoplasm
✦AI Summary

ARMC3 (armadillo repeat containing 3) is essential for male fertility through its role in regulating autophagy during spermatogenesis. As the mammalian homolog of yeast Vac8, ARMC3 functions in anchoring phosphatidylinositol 3-kinase (PIK3C3-C1) at the phagophore assembly site to initiate autophagy 1. Specifically, ARMC3 promotes ribophagy—the selective autophagic degradation of cytosolic ribosomes—in developing spermatids, which provides essential energy resources for mitochondria and ensures flagellar motility 1. The protein contains conserved armadillo repeat domains and exists as multiple splicing variants with tissue-specific expression patterns 2. Loss-of-function mutations in ARMC3 cause complete male infertility characterized by asthenozoospermia (reduced sperm motility) and flagellar disorganization, including vacuolation in mitochondria and disrupted ultrastructure of the flagellar principal and end pieces 3. Beyond reproductive function, ARMC3 mutations have been associated with non-syndromic stuttering, suggesting neurodevelopmental roles 4. Additionally, ARMC3 genetic variants show associations with variation in Epstein-Barr virus antibody responses and autoimmune disease susceptibility 5. ARMC3 interacts functionally with other spermatogenesis-related proteins including MYCBPAP 6, highlighting its role in the multi-protein regulatory networks essential for male fertility.

Sources cited
1
ARMC3 anchors PIK3C3-C1 at the phagophore assembly site and promotes ribosome autophagy in spermatids to provide energy for flagellar motility
PMID: 34428398
2
ARMC3 contains armadillo repeat domains and exists as multiple splicing variants with tissue-specific expression
PMID: 16915934
3
Homozygous ARMC3 splicing variants cause asthenozoospermia with mitochondrial vacuolation and flagellar ultrastructural defects
PMID: 39221575
4
ARMC3 mutations are associated with non-syndromic stuttering phenotype
PMID: 36553564
5
ARMC3 genetic variants associate with Epstein-Barr virus antibody response and autoimmune disease risk
PMID: 41913744
6
ARMC3 interacts with MYCBPAP and other spermatogenesis proteins in regulating sperm function
PMID: 39704931
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.34Weak
glomerulonephritisOpen Targets
0.27Weak
infectious meningitisOpen Targets
0.26Weak
secondary malignant neoplasmOpen Targets
0.19Weak
chondromalaciaOpen Targets
0.17Weak
atrial fibrillationOpen Targets
0.17Weak
stuttering, familial persistent, 4Open Targets
0.11Weak
adolescent idiopathic scoliosisOpen Targets
0.10Weak
azoospermiaOpen Targets
0.09Suggestive
Male infertility with spermatogenesis disorder due to single gene mutationOpen Targets
0.09Suggestive
partial chromosome Y deletionOpen Targets
0.08Suggestive
spermatogenic failure 7Open Targets
0.08Suggestive
spermatogenic failure 79Open Targets
0.07Suggestive
spermatogenic failure 58Open Targets
0.07Suggestive
spermatogenic failure 10Open Targets
0.07Suggestive
spermatogenic failure 11Open Targets
0.07Suggestive
spermatogenic failure 47Open Targets
0.07Suggestive
spermatogenic failure 56Open Targets
0.07Suggestive
spermatogenic failure 92Open Targets
0.07Suggestive
spermatogenic failure 94Open Targets
0.07Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PIERCE1Protein interaction78%TEKT1Protein interaction78%CFAP126Protein interaction75%FAM81BProtein interaction71%TSSK4Shared pathway67%TSSK6Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Lung
29%
Bone Marrow
4%
Heart
2%
Ovary
1%
Liver
1%
Gene Interaction Network
Click a node to explore
ARMC3PIERCE1TEKT1CFAP126FAM81BTSSK4TSSK6
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5W041
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.91LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.73 [0.59–0.91]
RankingsWhere ARMC3 stands among ~20K protein-coding genes
  • #14,359of 20,598
    Most Researched19
  • #8,303of 17,882
    Most Constrained (LOEUF)0.91
Genes detectedARMC3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Autophagic elimination of ribosomes during spermiogenesis provides energy for flagellar motility.
PMID: 34428398
Dev Cell · 2021
1.00
2
Cloning and expression of ARMC3_v2, a novel splicing variant of the human ARMC3 gene.
PMID: 16915934
Genetika · 2006
0.90
3
A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family.
PMID: 39221575
Clin Genet · 2024
0.80
4
The Expansion of the Spectrum in Stuttering Disorders to a Novel ARMC Gene Family (
PMID: 36553564
Genes (Basel) · 2022
0.70
5
Polygenic risk score and phenome-wide association study of the Epstein-Barr virus antibody response.
PMID: 41913744
Front Genet · 2026
0.60