Gene
ANO3
anoctamin 3
- HGNC 14004↗(opens in a new tab)
- Ensembl gene ENSG00000134343↗(opens in a new tab)
- NCBI Gene 63982↗(opens in a new tab)
Summary
- Cytogenetic location
- 11p14.2
- Coordinates
- Chromosome 11: 26,332,130–26,663,289 (GRCh38)
- Exons
- 27 exons across 331.2 kb
- Protein
- 981 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- GENX-3947, DYT23
- Previous symbols
- C11orf25, TMEM16C
- MANE Select transcript
- ENST00000256737.8NM_031418.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Dystonia, Myotonia, Paroxysmal Dyskinesia
- Dystonia 24Autosomal dominant
Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene.
- 4 GenCC submitters rate it definitive or strong
- Inherited Dystonia
Umbrella term covering inherited dystonias, including DYT-TOR1A early-onset generalized dystonia, DYT-THAP1, myoclonus-dystonia (SGCE) and KMT2B-related dystonia.
- 4 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How ANO3 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
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 5.9 kb of the gene's 331.2 kb; 2,946 of those bases code for the protein.
How a genome test reads ANO3
7
positions in ANO3 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 331.2 kb of ANO3, introns included, not only the 5.9 kb of exons.
Genes linked to the same conditions
- ACTBactin betaShares 1 condition
- ARFGEF3ARFGEF family member 3Shares 1 condition
- ATP1A3ATPase Na+/K+ transporting subunit alpha 3Shares 1 condition
- BCAP31B cell receptor associated protein 31Shares 1 condition
- COL6A3collagen type VI alpha 3 chainShares 1 condition
- DCAF17DDB1 and CUL4 associated factor 17Shares 1 condition
- GCH1GTP cyclohydrolase 1Shares 1 condition
- GNALG protein subunit alpha LShares 1 condition
- HPCAhippocalcinShares 1 condition
- KCNJ10potassium inwardly rectifying channel subfamily J member 10Shares 1 condition
- KCTD17potassium channel tetramerization domain containing 17Shares 1 condition
- KMT2Blysine methyltransferase 2BShares 1 condition
Traits linked to ANO3
The Human Phenotype Ontology lists these as features of the rare conditions ANO3 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
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
Dante Labs. (n.d.). ANO3 gene: anoctamin 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/ano3
Dante Labs. ANO3 gene: anoctamin 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/ano3
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