HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ANO8
anoctamin 8
Chromosome 19 · 19p13.11
NCBI Gene: 57719Ensembl: ENSG00000074855.11HGNC: HGNC:29329UniProt: Q9HCE9
23PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chloride transmembrane transportintracellularly calcium-gated chloride channel activityplasma membraneendoplasmic reticulum lumenCOVID-19neurodegenerative diseaseattention deficit hyperactivity disorderhereditary attention deficit-hyperactivity disorder
✦AI Summary

ANO8 (anoctamin 8) is an intracellular member of the anoctamin protein family that serves as a key membrane tether at endoplasmic reticulum-plasma membrane (ER/PM) junctions rather than functioning as a conventional calcium-activated chloride channel 1. Unlike plasma membrane anoctamins, ANO8 shows poor membrane expression and is mostly retained in the cytosol, though it can produce transient Ca2+-activated Cl- currents when overexpressed 2. ANO8's primary function involves tethering the ER and PM to form specialized contact sites essential for calcium signaling 3. At these junctions, ANO8 facilitates STIM1-STIM1 and STIM1-Orai1 interactions, assembling core Ca2+ signaling proteins including Orai1, PMCA, STIM1, IP3 receptors, and SERCA2 3. This organization enables a novel form of Orai1 channel inactivation by enhancing SERCA2-mediated calcium influx into the ER, controlling the efficiency of receptor-stimulated Ca2+ signaling and preventing Ca2+ toxicity 3. Clinically, ANO8 has been implicated in several diseases: rare variants confer high risk for ADHD 4, mutations are associated with intrahepatic cholestasis of pregnancy 5, and altered expression correlates with atrial fibrillation rhythm control 6.

Sources cited
1
ANO8 is an intracellular anoctamin that probably does not operate as a phospholipid scramblase like other intracellular anoctamins
PMID: 38657371
2
ANO8 shows poor membrane expression, is mostly retained in cytosol, but can produce transient Ca2+-activated Cl- currents when overexpressed
PMID: 22946059
3
ANO8 functions as a key tether forming ER/PM junctions and assembles core Ca2+ signaling proteins to control Orai1 channel activity
PMID: 31061173
4
Rare variants in ANO8 confer high risk for ADHD
PMID: 41224997
5
ANO8 mutations are associated with intrahepatic cholestasis of pregnancy
PMID: 32942997
6
ANO8 mRNA expression is associated with restoration to sinus rhythm in atrial fibrillation patients
PMID: 38612670
Disease Associationsⓘ20
COVID-19Open Targets
0.37Weak
neurodegenerative diseaseOpen Targets
0.26Weak
attention deficit hyperactivity disorderOpen Targets
0.07Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.06Suggestive
Griscelli diseaseOpen Targets
0.05Suggestive
attention deficit-hyperactivity disorder 8Open Targets
0.05Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.05Suggestive
schizophrenia 15Open Targets
0.05Suggestive
autismOpen Targets
0.05Suggestive
Tourette syndromeOpen Targets
0.05Suggestive
Griscelli disease type 1Open Targets
0.05Suggestive
Griscelli syndrome type 1Open Targets
0.05Suggestive
uncombable hair syndromeOpen Targets
0.04Suggestive
Phelan-McDermid syndromeOpen Targets
0.04Suggestive
Piebald trait - neurologic defectsOpen Targets
0.04Suggestive
piebald trait-neurologic defects syndromeOpen Targets
0.04Suggestive
Spinocerebellar ataxia type 1 with axonal neuropathyOpen Targets
0.04Suggestive
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1Open Targets
0.04Suggestive
Griscelli disease type 3Open Targets
0.04Suggestive
Griscelli syndrome type 3Open Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ANO7Shared pathway100%ANO2Shared pathway100%TMC4Shared pathway100%CLCN4Shared pathway67%CLCA2Shared pathway67%CLCA4Shared pathway67%
Tissue Expression6 tissues
Liver
100%
Lung
72%
Brain
53%
Ovary
46%
Bone Marrow
41%
Heart
37%
Gene Interaction Network
Click a node to explore
ANO8ANO7ANO2TMC4CLCN4CLCA2CLCA4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q9HCE9
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.80LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.53–0.80]
RankingsWhere ANO8 stands among ~20K protein-coding genes
  • #13,370of 20,598
    Most Researched23
  • #6,583of 17,882
    Most Constrained (LOEUF)0.80
Genes detectedANO8
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
VSI: The anoctamins: Structure and function: "Intracellular" anoctamins.
PMID: 38657371
Cell Calcium · 2024
1.00
2
Expression and function of epithelial anoctamins.
PMID: 21908539
Exp Physiol · 2012
0.90
3
Circ_0049979 ameliorates myocardial infarction through improving Cx43-mediated endothelial functions.
PMID: 39384044
Toxicol Appl Pharmacol · 2024
0.80
4
Rare genetic variants confer a high risk of ADHD and implicate neuronal biology.
PMID: 41224997
Nature · 2026
0.70
5
Anoctamin 8 tethers endoplasmic reticulum and plasma membrane for assembly of Ca
PMID: 31061173
EMBO J · 2019
0.60