ANO4 Chromosome 12
Anoctamin 4
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What This Gene Does
Enables intracellularly calcium-gated chloride channel activity. Involved in chloride transmembrane transport. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Anoctamins
Locus Type
gene with protein product
Location
12q23.1
Ensembl
ENSG00000151572
Associated Conditions (3)
Temporal lobe epilepsy
Developmental and epileptic encephalopathy
Generalized epilepsy with febrile seizures plus
Key Variants
RS200708403
Likely pathogenic
Temporal lobe epilepsy, Temporal lobe epilepsy
Health Risk
RS1224091418
Pathogenic
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS2049521857
Pathogenic
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS2049522225
Pathogenic
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS2541492742
Pathogenic
Generalized epilepsy with febrile seizures plus, Generalized epilepsy with febrile seizures plus
Health Risk
RS2541493503
Pathogenic
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
RS2541533331
Pathogenic
Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200708403 | Health Risk | Likely pathogenic | Temporal lobe epilepsy, Temporal lobe epilepsy |
| RS1224091418 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2049521857 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2049522225 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2541492742 | Health Risk | Pathogenic | Generalized epilepsy with febrile seizures plus, Generalized epilepsy with febrile seizures plus |
| RS2541493503 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |
| RS2541533331 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy |