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Gene

ANO5

anoctamin 5

Summary

Cytogenetic location
11p14.3
Coordinates
Chromosome 11: 22,193,085–22,283,357 (GRCh38)
Exons
22 exons across 90.3 kb
Protein
913 amino acids
Inheritance
Autosomal recessive
Also known as
GDD1
Previous symbols
TMEM16E, LGMD2L
MANE Select transcript
ENST00000324559.9NM_213599.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated reports relevant to this gene

  • Distal Myopathies

    • Miyoshi MyopathyAutosomal recessive

      A distal myopathy, characterized by weakness in the distal lower extremity posterior compartment (gastrocnemius and soleus muscles) and associated with difficulties in standing on tip toes.

      • 1 GenCC submitter rates it definitive or strong
    • Distal myopathy

      A group of inherited muscle disorders in which weakness starts in the hands, forearms, lower legs or feet, caused by genes such as TTN, DYSF, FLNC, MYH7, ADSS1, SMPX and MATR3.

      • 1 GenCC submitter rates it definitive or strong

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong

  • Osteogenesis Imperfecta

    • A group of inherited connective tissue disorders causing fragile bones that break easily, often with blue sclerae, hearing loss and dental problems.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      What knowing changes

      Cyclic IV bisphosphonates (pamidronate, zoledronate); orthopedic rodding of long bones; physical therapy; denosumab (in clinical use for pediatric OI); romosozumab (in development); hearing monitoring; dental management for dentinogenesis imperfecta

Inheritance

Autosomal recessive
It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.

How ANO5 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
  • Variants with a page
Chromosome 11, with a bracket where ANO5 sits. ANO5 and 3 genes near it on chromosome 11, from 21,738,221 to 22,738,220.Chromosome 1111p14.3p15.5p15.4p15.3p15.2p15.1p14.3p14.2p14.1p13p12p11.2p11.12p11.11q11q12.1q12.2q12.3q13.1q13.2q13.3q13.4q13.5q14.1q14.2q14.3q21q22.1q22.2q22.3q23.1q23.2q23.3q24.1q24.2q24.3q2521.8 Mb22 Mb22.2 Mb22.4 Mb22.6 MbANO5: 22,193,085–22,283,357, forward strandANO5SLC17A6: 22,337,853–22,379,503, forward strandSLC17A6FANCF: 22,622,533–22,625,823, reverse strandFANCFGAS2: 22,625,509–22,813,803, forward strandGAS2Diagram of ANO5: 22 exons on the forward strand of chromosome 11Exon 1: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 4: 4 known disease-causing sitesExon 5: 9 known disease-causing sitesExon 6: 4 known disease-causing sitesExon 7: 5 known disease-causing sitesExon 8: 4 known disease-causing sitesExon 9: 12 known disease-causing sitesExon 10: 7 known disease-causing sitesExon 11: 10 known disease-causing sitesExon 12: 1 known disease-causing siteExon 13: 7 known disease-causing sitesExon 14: 3 known disease-causing sitesExon 15: 12 known disease-causing sitesExon 16: 16 known disease-causing sitesExon 17: 4 known disease-causing sitesExon 18: 13 known disease-causing sitesExon 19: 8 known disease-causing sitesExon 20: 10 known disease-causing sitesExon 21: 5 known disease-causing sitesExon 22: 1 known disease-causing siteExon 1: 22,193,085–22,193,532, 448 basesExon 2: 22,203,804–22,203,850, 47 basesExon 3: 22,211,264–22,211,314, 51 bases. 1 variant with a page in exon 3. List themExon 4: 22,218,246–22,218,287, 42 bases. 2 variants with a page in exon 4. List themExon 5: 22,221,097–22,221,210, 114 bases. 2 variants with a page in exon 5. List themExon 6: 22,225,984–22,226,052, 69 bases. 1 variant with a page in exon 6. List themExon 7: 22,227,302–22,227,586, 285 basesExon 8: 22,236,163–22,236,276, 114 bases. 1 variant with a page in exon 8. List themExon 9: 22,239,569–22,239,684, 116 basesExon 10: 22,250,237–22,250,371, 135 bases. 1 variant with a page in exon 10. List themExon 11: 22,250,741–22,250,846, 106 basesExon 12: 22,250,951–22,251,011, 61 basesExon 13: 22,255,371–22,255,522, 152 bases. 1 variant with a page in exon 13. List themExon 14: 22,257,680–22,257,754, 75 basesExon 15: 22,259,519–22,259,741, 223 bases. 1 variant with a page in exon 15. List themExon 16: 22,262,129–22,262,298, 170 bases. 1 variant with a page in exon 16. List themExon 17: 22,262,946–22,263,043, 98 basesExon 18: 22,270,312–22,270,442, 131 bases. 1 variant with a page in exon 18. List themExon 19: 22,272,784–22,272,989, 206 basesExon 20: 22,274,569–22,274,747, 179 bases. 1 variant with a page in exon 20. List themExon 21: 22,276,094–22,276,199, 106 bases. 1 variant with a page in exon 21. List themExon 22: 22,279,544–22,283,357, 3,814 bases15101520225′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 6.7 kb of the gene's 90.3 kb; 2,742 of those bases code for the protein.

How a genome test reads ANO5

169

positions in ANO5 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 90.3 kb of ANO5, introns included, not only the 6.7 kb of exons.

Variants with a page (16)

The ANO5 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
A432Gc.1295C>GExon 1322,255,485Pathogenic3 stars out of 4 reviewed by expert panel
c.41-1G>AIntron 122,203,803Pathogenic3 stars out of 4 reviewed by expert panel
c.1898+1G>AIntron 1722,263,044Pathogenic3 stars out of 4 reviewed by expert panel
D81Gc.242A>GExon 522,221,158Pathogenic3 stars out of 4 reviewed by expert panel
E36Dfs*7c.108_109delExon 322,211,278Pathogenic3 stars out of 4 reviewed by expert panel
F578Sc.1733T>CExon 1622,262,231Pathogenic3 stars out of 4 reviewed by expert panel
F835delc.2503_2505delExon 2122,276,180Likely pathogenic3 stars out of 4 reviewed by expert panel
G231Vc.692G>TExon 822,236,206Likely pathogenic3 stars out of 4 reviewed by expert panel
K102Vfs*2c.304_308delExon 622,225,988Pathogenic3 stars out of 4 reviewed by expert panel
L330Ffs*6c.989dupExon 1022,250,345Pathogenic3 stars out of 4 reviewed by expert panel

See all 16 ANO5 variants →

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ANO5 gene: anoctamin 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/ano5

Vancouver

Dante Labs. ANO5 gene: anoctamin 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ano5

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