GeneBe

ANO1

protein-coding

anoctamin 1, the group of Anoctamins

Gene summary

Enables identical protein binding activity and monoatomic ion transmembrane transporter activity. Involved in monoatomic anion transport; mucus secretion; and protein localization to membrane. Located in apical plasma membrane. Implicated in Moyamoya disease. [provided by Alliance of Genome Resources, Jun 2026]

Previous symbols:
  • ORAOV2
  • TMEM16A

MANE transcript

NM_018043.7

Inheritance

AR, AD

ClinVar variants

P:3U:143B:39

Top phenotype

Moyamoya disease 7; Intestinal dysmotility syndrome

gnomAD constraint

pLI —, LoF o/e 0.2

Max pathogenic AF

—

Genomic locus

chr11:69,985,907-70,189,530

External References & Databases

Ensembl (ENSG00000131620)NCBI Gene (55107)OMIM (610108)HGNC:21625GenCCUniProt (Q5XXA6)AlphaFoldClinVar (ANO1)gnomADPubMedJAXSFARI

Transcript & Mutation Effects

hg38 • Region Span ~203.6 kb
Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

intestinal dysmotility syndromeMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0859289

Submitter: LiferaOmics

Genetic evidence – Published: PMID: 32487539 reports 2 affected siblings (single consanguineous family) with homozygous truncating ANO1 variant; score as 1 family/proband (biallelic predicted null) = 1.0; segregation = 0.5 ; case-control = 0=1.5. PMID: 37200714 reports 1 unrelated proband with homozygous nonsense ANO1 c.1273G>T (p.Glu425Ter); parents heterozygous; case-level (predicted null) = 1.5; segregation = 0; case-control = 0. Published genetic total = 3.0/12. Genetic evidence – Current case: 1 proband, consanguinity, homozygous NM_018043.7:c.441+1G>A (+1 splice donor; predicted null); no other affected; no segregation; case-level = 1.5; segregation = 0; case-control = 0. Current case contribution = 1.5/12. Total genetic = 4.5/12. Experimental evidence – Published: PMID: 32487539 shows expression analysis and functional alteration with abolished Ca-activated Cl− currents in patient respiratory epithelial cells (+2.0) and expression evidence (+0.5). Experimental total = 2.5/6. Overall score = 7.0 points

intestinal dysmotility syndromeMODERATE

Inheritance Pattern: AR

Disease ID:MONDO:0859289

Submitter: PanelApp Australia

moyamoya disease 7LIMITED

Inheritance Pattern: AD

Disease ID:MONDO:0958202

Submitter: Ambry Genetics

intestinal dysmotility syndromeLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0859289

Submitter: G2P

moyamoya disease 7MODERATE

Inheritance Pattern: AD

Disease ID:MONDO:0958202

Submitter: PanelApp Australia

intestinal dysmotility syndromeLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0859289

Submitter: Labcorp Genetics (formerly Invitae)

Clinical Genomic Database (CGD)

Moyamoya disease 7; Intestinal dysmotility syndromeAD/AR

Manifestation: Cardiovascular; Gastrointestinal; Neurologic

Intervention: Cardiovascular; Gastrointestinal

Rationale: Moyamoya disease 7 involves a risk of intracranial aneursyms and strokes, and awareness may allow early identification and maangement; Intestinal dysmotility syndrome involves intestinal dysmotility, and early awareness may allow early medical and nutritional interventions

Refs: 32487539; 37253099Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ANO1 variants in ClinVar

5 Conditions Cataloged
not specifiedTotal: 146
not providedTotal: 36
Moyamoya disease 7Total: 5
Intestinal dysmotility syndromeTotal: 2
ANO1-related fatal neonatal disease due to impaired chloride currentsTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018043.7. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
25
clinvar
3
clinvar
 29
missense
2
clinvar
135
clinvar
11
clinvar
 148
nonsense
1
clinvar
 1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
7
clinvar
 7
Total21143363185
Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 34 transcripts
Transcript IDSourceProtein IDCoding ExonsMANE Status
NM_018043.7RefSeqNP_060513.526MANE Select
ENST00000355303.10EnsemblENSP00000347454.526MANE Select
NM_001378092.1RefSeqNP_001365021.128Standard
NM_001378093.1RefSeqNP_001365022.125Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

  • Stimuli-sensing channels
  • Ion channel transport
  • Transport of small molecules

Biological Process

  • cation transport
  • chloride transport
  • phospholipase C-activating G protein-coupled receptor signaling pathway
  • multicellular organism development
  • iodide transport

Molecular Function

  • calcium activated cation channel activity
  • intracellular calcium activated chloride channel activity
  • voltage-gated chloride channel activity
  • chloride channel activity
  • protein binding

Cellular Component

  • cytoplasm
  • plasma membrane
  • apical plasma membrane
  • chloride channel complex
  • extracellular exosome

gnomAD Constraint

Source: gnomAD

Gene type
protein_coding
Transcript type
protein_coding
Transcript
ENST00000355303
Coding exons
26
Length
111227
Individuals with no LoFs
124663
Homozygous LoFs
0
Heterozygous LoFs
29
Defined
124692
p
0.000116
Z-ScoreObservedExpectedObserved/ExpectedMutation RateTotal Possible
Missense2.774136050.6830.00003846473
Missense (PolyPhen)172270.910.63492828
Synonymous1.232352600.9030.00001921807
Loss of Function5.521155.20.1990.00000294626

Population LoF Frequency

PopulationCAFp-valueStatus
African0.000140.00013rare
Latino/Admixed American0.0000580.000058rare
Ashkenazi Jewish00.0absent
East Asian00.0absent
Finnish0.0000460.000046rare
European (Non-Finnish)0.000170.00016rare
South Asian0.000140.00013rare
Other0.000330.00033rare

dbNSFP Gene Annotations

Source: dbNSFP

Function
FUNCTION: Calcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage development. {ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:21984732, ECO:0000269|PubMed:22178883, ECO:0000269|PubMed:22946059}.;

Recessive Scores

pRec
0.123

Intolerance Scores

LoFtool
0.636
RVIS EVS
-1.52
RVIS percentile EVS
3.44

Essentials

Essential (CRISPR)
N
Essential (CRISPR2)
N
Essential (gene trap)
N
Indispensability pred.
N
Indispensability score
0.198

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium
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