HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ARMC2
armadillo repeat containing 2
Chromosome 6 Β· 6q21
NCBI Gene: 84071Ensembl: ENSG00000118690.14HGNC: HGNC:23045UniProt: Q8NEN0
23PubMed Papers
21Diseases
0Drugs
7Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein bindingsperm axoneme assemblycilium organizationazoospermiamale infertility with teratozoospermia due to single gene mutationchronic obstructive pulmonary diseasealcohol drinking
✦AI Summary

ARMC2 (armadillo repeat containing 2) is essential for sperm flagellum axoneme organization and function 1. The protein is specifically required for axonemal central pair complex (CPC) assembly and/or stability 1, as mutations result in absence of CPC proteins SPAG6 and SPEF2 while other axonemal components remain intact 1. Bi-allelic ARMC2 mutations cause multiple morphological abnormalities of the sperm flagella (MMAF), characterized by short, coiled, absent, and irregular flagella 12. This leads to severe astheno-teratozoospermia and male infertility 13. ARMC2 mutations display heterogeneous severity; sperm from Armc2-deficient mice showed moderate embryo developmental impairment compared to other MMAF gene knockouts 4. Notably, ARMC2 is expressed in other ciliary structures, and one patient with ARMC2 mutations exhibited primary ciliary dyskinesia (PCD)-related pulmonary manifestations including recurrent airway infections and rhinosinusitis, expanding the recognized phenotype beyond reproductive dysfunction 5. Clinically, intracytoplasmic sperm injection (ICSI) represents the only viable treatment option for ARMC2-mutated male infertility, with successful pregnancies achieved 65. ARMC2 protein interacts with CEP78, PGAM5, RHOA, FXR1, and SKIV2L2, suggesting involvement in multiple spermatogenesis processes 6.

Sources cited
1
ARMC2 is required for axonemal central pair complex assembly/stability; bi-allelic mutations cause MMAF with absent CPC proteins
PMID: 30686508
2
ARMC2 mutations cause multiple morphological abnormalities of sperm flagella (MMAF)
PMID: 39417902
3
Novel homozygous ARMC2 variants cause asthenoteratospermia with flagellar morphological abnormalities and absent central pair complex
PMID: 38492154
4
Armc2-deficient sperm shows moderate embryo developmental impairment with nuclear defects; ranked intermediate among MMAF gene knockouts
PMID: 40070084
5
ARMC2 mutations link MMAF to primary ciliary dyskinesia pulmonary manifestations; first discovery of PCD phenotype outside reproductive system
PMID: 40158138
6
Novel ARMC2 mutation causes MMAF; ICSI achieves successful pregnancy; ARMC2 interacts with CEP78, PGAM5, RHOA, FXR1, SKIV2L2
PMID: 35543806
Disease Associationsβ“˜21
azoospermiaOpen Targets
0.67Moderate
male infertility with teratozoospermia due to single gene mutationOpen Targets
0.50Moderate
chronic obstructive pulmonary diseaseOpen Targets
0.43Moderate
alcohol drinkingOpen Targets
0.41Moderate
non-syndromic male infertility due to sperm motility disorderOpen Targets
0.37Weak
risk-taking behaviourOpen Targets
0.36Weak
asthmaOpen Targets
0.35Weak
Abnormal sperm tail morphologyOpen Targets
0.33Weak
metabolic syndromeOpen Targets
0.31Weak
lower respiratory tract diseaseOpen Targets
0.29Weak
Chronic Obstructive AsthmaOpen Targets
0.28Weak
attention deficit hyperactivity disorderOpen Targets
0.28Weak
esophageal cancerOpen Targets
0.27Weak
Abnormal sperm morphologyOpen Targets
0.27Weak
Reduced sperm motilityOpen Targets
0.27Weak
benign prostatic hyperplasiaOpen Targets
0.26Weak
cervical carcinomaOpen Targets
0.23Weak
DNA methylationOpen Targets
0.19Weak
prostate carcinomaOpen Targets
0.10Weak
tooth diseaseOpen Targets
0.09Suggestive
Spermatogenic failure 38UniProt
Pathogenic Variants7
NM_032131.6(ARMC2):c.279dup (p.Pro94fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 94
NM_032131.6(ARMC2):c.2227A>G (p.Asn743Asp)Likely pathogenic
Reduced sperm motility;Abnormal sperm morphology
β˜…β˜†β˜†β˜†β†’ Residue 743
NM_032131.6(ARMC2):c.2279T>A (p.Ile760Asn)Pathogenic
Spermatogenic failure 38|Male infertility with teratozoospermia due to single gene mutation
β˜†β˜†β˜†β˜†2019β†’ Residue 760
NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs)Pathogenic
Spermatogenic failure 38|Male infertility with teratozoospermia due to single gene mutation
β˜†β˜†β˜†β˜†2019β†’ Residue 428
NM_032131.6(ARMC2):c.421C>T (p.Gln141Ter)Pathogenic
Spermatogenic failure 38|Male infertility with teratozoospermia due to single gene mutation
β˜†β˜†β˜†β˜†2019β†’ Residue 141
NM_032131.6(ARMC2):c.2353_2354del (p.Leu785fs)Pathogenic
Spermatogenic failure 38|Male infertility with teratozoospermia due to single gene mutation
β˜†β˜†β˜†β˜†2019β†’ Residue 785
NM_032131.6(ARMC2):c.1023+1G>APathogenic
Spermatogenic failure 38|Male infertility with teratozoospermia due to single gene mutation|Abnormal sperm tail morphology
β˜†β˜†β˜†β˜†2019
View on ClinVar β†—
Related Genes
SPEF2Protein interaction72%CFAP43Protein interaction70%CFAP70Protein interaction70%CFAP157Shared pathway50%CFAP97D1Shared pathway50%TSGA10IPShared pathway50%
Tissue Expression6 tissues
Bone Marrow
100%
Heart
53%
Lung
34%
Ovary
33%
Brain
24%
Liver
10%
Gene Interaction Network
Click a node to explore
ARMC2SPEF2CFAP43CFAP70CFAP157CFAP97D1TSGA10IP
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q8NEN0
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.94LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.75 [0.61–0.94]
RankingsWhere ARMC2 stands among ~20K protein-coding genes
  • #13,373of 20,598
    Most Researched23
  • #3,264of 5,498
    Most Pathogenic Variants7
  • #8,695of 17,882
    Most Constrained (LOEUF)0.94
Genes detectedARMC2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Genetic etiological spectrum of sperm morphological abnormalities.
PMID: 39417902
J Assist Reprod Genet Β· 2024
1.00
2
Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia.
PMID: 40158138
Reprod Biol Endocrinol Β· 2025
0.90
3
Identification of novel homozygous asthenoteratospermia-causing ARMC2 mutations associated with multiple morphological abnormalities of the sperm flagella.
PMID: 38492154
J Assist Reprod Genet Β· 2024
0.80
4
A comprehensive study of the sperm head defects in MMAF condition and their impact on embryo development in mice.
PMID: 40070084
Mol Hum Reprod Β· 2025
0.70
5
Bi-allelic Mutations in ARMC2 Lead to Severe Astheno-Teratozoospermia Due to Sperm Flagellum Malformations in Humans and Mice.
PMID: 30686508
Am J Hum Genet Β· 2019
0.60