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ANO3

Synonyms
C11orf25, DYT23, DYT24, GENX-3947, TMEM16C
External resources
Summary
The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
12
Likely pathogenic
1
VUS
2,028
Likely benign
2,984
Benign
6,183

Patient phenotypes

Proportions of phenotypes among 11 patients carring pathogenic or likely pathogenic variants on ANO3 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
27.3%
Abnormality of head or neck
18.2%
Abnormality of the cardiovascular system
18.2%
Abnormality of the ear
18.2%
Abnormality of the immune system
18.2%
Abnormality of the musculoskeletal system
18.2%
Abnormality of the nervous system
18.2%
Abnormal cellular phenotype
9.1%
Abnormality of blood and blood-forming tissues
9.1%
Abnormality of the digestive system
9.1%
Abnormality of the genitourinary system
9.1%
Growth abnormality
9.1%
Abnormality of limbs
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the integument
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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