ANO1

anoctamin 1, the group of Anoctamins

Basic information

Region (hg38): 11:69985907-70189530

Previous symbols: [ "ORAOV2", "TMEM16A" ]

Links

ENSG00000131620 ∙ NCBI:55107 ∙ OMIM:610108 ∙ HGNC:21625 ∙ Uniprot:Q5XXA6 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• intestinal dysmotility syndrome (Limited), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Moyamoya disease 7; Intestinal dysmotility syndrome	AD/AR	Cardiovascular; Gastrointestinal	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	Cardiovascular; Gastrointestinal; Neurologic	32487539; 37253099

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANO1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANO1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3	5	8
missense			52	3		55
nonsense		1				1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	1	1	3
non coding						0
Total	0	1	52	6	5

Variants in ANO1

This is a list of pathogenic ClinVar variants found in the ANO1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
11-70078623-A-G		not specified	Uncertain significance (Aug 17, 2022)
11-70078629-C-G		not specified	Uncertain significance (Feb 22, 2023)
11-70078642-C-A			Likely benign (Aug 01, 2024)
11-70078649-C-T		not specified	Uncertain significance (Apr 20, 2024)
11-70078697-C-G		not specified	Uncertain significance (May 30, 2023)
11-70087815-G-A		not specified	Uncertain significance (Jan 03, 2022)
11-70087818-C-T		not specified	Uncertain significance (Mar 15, 2024)
11-70087872-C-T		not specified	Uncertain significance (Oct 03, 2022)
11-70087886-G-A			Benign/Likely benign (Oct 01, 2024)
11-70087921-G-T		not specified	Uncertain significance (Apr 04, 2024)
11-70087960-C-T		not specified	Uncertain significance (Sep 16, 2021)
11-70087963-C-T		not specified	Uncertain significance (Dec 07, 2023)
11-70088023-G-T		not specified	Uncertain significance (Jul 20, 2021)
11-70088074-G-C		not specified	Uncertain significance (May 31, 2023)
11-70088078-C-A		not specified	Uncertain significance (Nov 14, 2023)
11-70088079-G-A		not specified	Uncertain significance (Oct 03, 2022)
11-70103072-A-G		not specified	Uncertain significance (Feb 16, 2023)
11-70103132-G-A		Moyamoya disease 7 • not specified	Uncertain significance (Feb 22, 2023)
11-70104008-A-G		not specified	Uncertain significance (Dec 20, 2023)
11-70108375-C-T		not specified	Uncertain significance (Sep 26, 2023)
11-70108384-C-A			Uncertain significance (Nov 01, 2024)
11-70111154-C-T			Likely benign (Sep 01, 2024)
11-70111740-C-T			Uncertain significance (Mar 01, 2023)
11-70116470-G-A		not specified	Uncertain significance (May 13, 2022)
11-70116497-AAAGT-A		Intestinal dysmotility syndrome	Uncertain significance (Aug 01, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANO1	protein_coding	protein_coding	ENST00000355303	26	111227

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.874	0.126	124663	0	29	124692	0.000116

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.77	413	605	0.683	0.0000384	6473
Missense in Polyphen		172	270.91	0.6349		2828
Synonymous	1.23	235	260	0.903	0.0000192	1807
Loss of Function	5.52	11	55.2	0.199	0.00000294	626

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000202	0.000187
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000464	0.0000464
European (Non-Finnish)	0.000168	0.000159
Middle Eastern	0.00	0.00
South Asian	0.000142	0.000131
Other	0.000332	0.000330

dbNSFP

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}.
• Pathway: Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Recessive Scores

• pRec: 0.123

Intolerance Scores

• loftool: 0.636
• rvis_EVS: -1.52
• rvis_percentile_EVS: 3.44

Haploinsufficiency Scores

• pHI: 0.295
• hipred: Y
• hipred_score: 0.736
• ghis: 0.527

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.198

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ano1
• Phenotype: homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); respiratory system phenotype; renal/urinary system phenotype; skeleton phenotype; digestive/alimentary phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: cation transport;chloride transport;phospholipase C-activating G protein-coupled receptor signaling pathway;multicellular organism development;iodide transport;ion transmembrane transport;cellular response to heat;positive regulation of insulin secretion involved in cellular response to glucose stimulus;detection of temperature stimulus involved in sensory perception of pain;chloride transmembrane transport
• Cellular component: cytoplasm;plasma membrane;apical plasma membrane;chloride channel complex;extracellular exosome
• Molecular function: calcium activated cation channel activity;intracellular calcium activated chloride channel activity;voltage-gated chloride channel activity;chloride channel activity;protein binding;iodide transmembrane transporter activity;protein dimerization activity