ANO2

anoctamin 2, the group of Anoctamins

Basic information

Region (hg38): 12:5531869-5946232

Previous symbols: [ "C12orf3", "TMEM16B" ]

Links

ENSG00000047617 ∙ NCBI:57101 ∙ OMIM:610109 ∙ HGNC:1183 ∙ Uniprot:Q9NQ90 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANO2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANO2 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				1		1
missense				2	1	3
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding					1	1
Total	0	0	0	3	2

Variants in ANO2

This is a list of pathogenic ClinVar variants found in the ANO2 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-5563398-A-C			Likely benign (Jan 01, 2023)
12-5575981-G-A			Likely benign (Jan 01, 2023)
12-5635329-T-C			Benign (Mar 02, 2018)
12-5732874-G-A			Benign (Mar 02, 2018)
12-5832446-A-T			Likely benign (Mar 01, 2023)
12-5921308-C-T			Likely benign (Apr 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANO2	protein_coding	protein_coding	ENST00000327087	26	414364

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.71e-22	0.240	124388	0	281	124669	0.00113

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0134	568	567	1.00	0.0000330	6541
Missense in Polyphen		256	249.15	1.0275		2940
Synonymous	0.408	218	226	0.965	0.0000144	1861
Loss of Function	1.79	42	56.5	0.743	0.00000304	635

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00605	0.00602
Ashkenazi Jewish	0.00	0.00
East Asian	0.00107	0.00106
Finnish	0.0000937	0.0000928
European (Non-Finnish)	0.000965	0.000938
Middle Eastern	0.00107	0.00106
South Asian	0.000805	0.000785
Other	0.00138	0.00132

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Calcium-activated chloride channel (CaCC) which may play a role in olfactory signal transduction. Odorant molecules bind to odor-sensing receptors (OSRs), leading to an increase in calcium entry that activates CaCC current which amplifies the depolarization of the OSR cells, ANO2 seems to be the underlying chloride channel involved in this process. May mediate light perception amplification in retina. {ECO:0000269|PubMed:19474308, ECO:0000269|PubMed:20056604, ECO:0000269|PubMed:21890523, ECO:0000269|PubMed:21984732}.
• Pathway: Olfactory transduction - Homo sapiens (human);Stimuli-sensing channels;Ion channel transport;Transport of small molecules (Consensus)

Intolerance Scores

• loftool: 0.841
• rvis_EVS: -0.34
• rvis_percentile_EVS: 29.63

Haploinsufficiency Scores

• pHI: 0.236
• hipred: N
• hipred_score: 0.251
• ghis: 0.501

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.189

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ano2
• Phenotype: taste/olfaction phenotype

Gene ontology

• Biological process: ion transmembrane transport;chloride transmembrane transport
• Cellular component: nucleoplasm;plasma membrane;chloride channel complex;non-motile cilium
• Molecular function: intracellular calcium activated chloride channel activity;protein binding;protein homodimerization activity;protein heterodimerization activity