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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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ANO5
anoctamin 5
Chromosome 11 · 11p14.3
NCBI Gene: 203859Ensembl: ENSG00000171714.13HGNC: HGNC:27337UniProt: A0A804HKP2
68PubMed Papers
23Diseases
0Drugs
185Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
intracellularly calcium-gated chloride channel activityplasma membranechloride transmembrane transportplasma membrane repairautosomal recessive limb-girdle muscular dystrophy type 2Lgnathodiaphyseal dysplasiaMiyoshi muscular dystrophy 3autosomal recessive limb-girdle muscular dystrophy
✦AI Summary

ANO5 (anoctamin 5) is a multi-pass membrane protein localized to the sarcolemma and sarcoplasmic reticulum that plays a crucial role in plasma membrane repair through a process involving annexins 1. Unlike other anoctamins, ANO5 does not exhibit calcium-activated chloride channel activity but instead functions in membrane repair mechanisms. Mutations in ANO5 cause autosomal recessive limb-girdle muscular dystrophy R12 (LGMD-R12) and Miyoshi muscular dystrophy 3 (MMD3), representing a significant portion of muscular dystrophy cases 23. ANO5-related myopathy accounts for 7-26% of LGMD cases across different populations, making it one of the major contributing genes to LGMD phenotypes 24. The disease exhibits notable sex differences, with males more frequently presenting with moderate to severe skeletal muscle pathology and elevated creatine kinase levels, while females may develop cardiomyopathy features 5. Clinical presentation includes progressive muscle weakness, with wide variation in age of onset (0-72 years) and cardiac abnormalities occurring in approximately 17% of patients 4. The estimated minimum prevalence is 14.4 × 10-6 in the Netherlands 4. ANO5 myopathy represents part of a clinical continuum with varying degrees of muscle cell pathologies, and no clear genotype-phenotype correlation exists 1.

Sources cited
1
ANO5 is a multi-pass membrane protein localized to sarcolemma and sarcoplasmic reticulum involved in plasma membrane repair
PMID: 36157496
2
ANO5 accounts for 7% of LGMD cases and is one of the major contributing genes to LGMD phenotypes
PMID: 30564623
3
ANO5 is among the genes collectively accounting for over half of solved muscle disease cases
PMID: 32528171
4
ANO5 mutations cause 26% of LGMD cases in Netherlands cohort with wide age of onset variation and 17% cardiac involvement
PMID: 30919934
5
ANO5 myopathy exhibits sex differences with males more frequently presenting severe pathology and females developing cardiomyopathy
PMID: 35020501
Disease Associationsⓘ23
autosomal recessive limb-girdle muscular dystrophy type 2LOpen Targets
0.84Strong
gnathodiaphyseal dysplasiaOpen Targets
0.82Strong
Miyoshi muscular dystrophy 3Open Targets
0.78Strong
autosomal recessive limb-girdle muscular dystrophyOpen Targets
0.71Strong
limb-girdle muscular dystrophyOpen Targets
0.67Moderate
Distal anoctaminopathyOpen Targets
0.64Moderate
isolated asymptomatic elevation of creatine phosphokinaseOpen Targets
0.57Moderate
Elevated circulating creatine kinase concentrationOpen Targets
0.49Moderate
atrial fibrillationOpen Targets
0.48Moderate
myopathyOpen Targets
0.46Moderate
Abnormality of the musculatureOpen Targets
0.44Moderate
muscular dystrophyOpen Targets
0.42Moderate
COVID-19Open Targets
0.37Weak
Disproportionate short statureOpen Targets
0.37Weak
Distal muscle weaknessOpen Targets
0.37Weak
Fatty replacement of skeletal muscleOpen Targets
0.37Weak
skeletal dysplasiaOpen Targets
0.37Weak
hereditary fructose intoleranceOpen Targets
0.34Weak
Lower limb muscle weaknessOpen Targets
0.34Weak
Meckel syndromeOpen Targets
0.34Weak
Gnathodiaphyseal dysplasiaUniProt
Miyoshi muscular dystrophy 3UniProt
Muscular dystrophy, limb-girdle, autosomal recessive 12UniProt
Pathogenic Variants185
NM_213599.3(ANO5):c.41-1G>APathogenic
not provided|Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2026
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)Likely pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2L|not provided|ANO5-related disorder|Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia|Hereditary fructosuria|Autosomal recessive limb-girdle muscular dystrophy|Miyoshi muscular dystrophy 3|Ovarian serous cystadenocarcinoma|Acute rhabdomyolysis|Nonpapillary renal cell carcinoma
★★★☆2026→ Residue 231
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser)Pathogenic
not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Abnormality of the musculature|Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2026→ Residue 578
NM_213599.3(ANO5):c.242A>G (p.Asp81Gly)Pathogenic
not provided|Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2026→ Residue 81
NM_213599.3(ANO5):c.1295C>G (p.Ala432Gly)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2L|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy|ANO5-related disorder|Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia
★★★☆2026→ Residue 432
NM_213599.3(ANO5):c.1898+1G>APathogenic
not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3|Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2025
NM_213599.3(ANO5):c.108_109del (p.Glu36fs)Pathogenic
not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2025→ Residue 36
NM_213599.3(ANO5):c.172C>T (p.Arg58Trp)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2L|not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Abnormality of the musculature|Miyoshi muscular dystrophy 3|Autosomal recessive limb-girdle muscular dystrophy|ANO5-related disorder|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3
★★★☆2025→ Residue 58
NM_213599.3(ANO5):c.304_308del (p.Lys102fs)Pathogenic
not provided|Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia|Abnormality of the musculature|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2025→ Residue 102
NM_213599.3(ANO5):c.191dup (p.Asn64fs)Pathogenic
Miyoshi muscular dystrophy 3|Autosomal recessive limb-girdle muscular dystrophy type 2L|not provided|Myopathy|Lower limb muscle weakness;Elevated circulating creatine kinase concentration;Lower limb amyotrophy;Polycystic kidney disease;Achilles tendon contracture|Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia|ANO5-related disorder|ANO5-related muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3|Intellectual disability|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2025→ Residue 64
NM_213599.3(ANO5):c.989dup (p.Leu330fs)Pathogenic
not provided|Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2025→ Residue 330
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys)Pathogenic
Miyoshi muscular dystrophy 3|not provided|Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy type 2L;Gnathodiaphyseal dysplasia|ANO5 Muscle Disease|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2025→ Residue 758
NM_213599.3(ANO5):c.2018A>G (p.Tyr673Cys)Pathogenic
not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2L
★★★☆2025→ Residue 673
NM_213599.3(ANO5):c.148C>T (p.Arg50Ter)Pathogenic
Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Miyoshi muscular dystrophy 3;Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2025→ Residue 50
NM_213599.3(ANO5):c.2503_2505del (p.Phe835del)Likely pathogenic
not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy
★★★☆2025→ Residue 835
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2L|not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy type 2L;Miyoshi muscular dystrophy 3
★★☆☆2026→ Residue 453
NM_213599.3(ANO5):c.1520del (p.Phe507fs)Pathogenic
not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy type 2L|Autosomal recessive limb-girdle muscular dystrophy
★★☆☆2026→ Residue 507
NM_213599.3(ANO5):c.813C>G (p.Tyr271Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2L|not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L
★★☆☆2026→ Residue 271
NM_213599.3(ANO5):c.1213C>T (p.Gln405Ter)Pathogenic
not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L|Muscular dystrophy|Autosomal recessive limb-girdle muscular dystrophy type 2L
★★☆☆2026→ Residue 405
NM_213599.3(ANO5):c.1639C>T (p.Arg547Ter)Pathogenic
Autosomal recessive limb-girdle muscular dystrophy type 2L|not provided|Gnathodiaphyseal dysplasia;Autosomal recessive limb-girdle muscular dystrophy type 2L
★★☆☆2026→ Residue 547
View on ClinVar ↗
Related Genes
NELL1Protein interaction87%MMD2Protein interaction86%NELL2Protein interaction85%FKTNProtein interaction82%DYSFProtein interaction82%POMT2Protein interaction82%
Tissue Expression6 tissues
Heart
100%
Brain
17%
Liver
8%
Lung
2%
Ovary
2%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ANO5NELL1MMD2NELL2FKTNDYSFPOMT2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q75V66
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.87 [0.73–1.03]
RankingsWhere ANO5 stands among ~20K protein-coding genes
  • #6,875of 20,598
    Most Researched68
  • #384of 5,498
    Most Pathogenic Variants185 · top 10%
  • #10,257of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedANO5
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
PMID: 30564623
Ann Clin Transl Neurol · 2018
1.00
2
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
PMID: 32528171
Genet Med · 2020
0.90
3
Panorama of the distal myopathies.
PMID: 33458580
Acta Myol · 2020
0.80
4
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis · 2022
0.70
5
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
PMID: 33250842
Front Neurol · 2020
0.60