ANO2
protein-codinganoctamin 2, the group of Anoctamins
Gene summary
ANO2 belongs to a family of calcium-activated chloride channels (CaCCs) (reviewed by Hartzell et al., 2009 [PubMed 19015192]).[supplied by OMIM, Jan 2011]
- C12orf3
- TMEM16B
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~414.4 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ANO2 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001364791.2. 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.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 5 | 1 | 6 | |||
| missense | 3 | 2 | 1 | 6 | ||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 11 | 3 | 1 | 15 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001351720.1 | 25 | MANE Select | |
| Ensembl | ENSP00000507275.1 | 25 | MANE Select | |
| RefSeq | NP_001265525.1 | 27 | Standard | |
| RefSeq | NP_001265526.1 | 27 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Olfactory transduction - Homo sapiens (human)
- Stimuli-sensing channels
- Ion channel transport
- Transport of small molecules
Biological Process
- ion transmembrane transport
- chloride transmembrane transport
Molecular Function
- intracellular calcium activated chloride channel activity
- protein binding
- protein homodimerization activity
- protein heterodimerization activity
Cellular Component
- nucleoplasm
- plasma membrane
- chloride channel complex
- non-motile cilium
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000327087
- Coding exons
- 26
- Length
- 414364
- Individuals with no LoFs
- 124388
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 281
- Defined
- 124669
- p
- 0.00113
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.0134 | 568 | 567 | 1.00 | 0.0000330 | 6541 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.0044 | 0.0043 | notable |
| Latino/Admixed American | 0.0017 | 0.0016 | notable |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.0011 | 0.0011 | notable |
| Finnish | 0.000094 | 0.000093 | rare |
| European (Non-Finnish) | 0.00097 | 0.00094 | rare |
| South Asian | 0.00080 | 0.00078 | rare |
| Other | 0.0014 | 0.0013 | notable |
dbNSFP Gene Annotations
Source:
- 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}.;
Intolerance Scores
- LoFtool
- 0.841
- RVIS EVS
- -0.34
- RVIS percentile EVS
- 29.63
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.189
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |