ANO3
Anoctamin-3
Also known as: ANO3_HUMAN, C11orf25, DYT23, GENX-3947, TMEM16C
Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene
Protein identityUniProt · HPA
- UniProt accession
- Q9BYT9
- Gene
- ANO3
- Ensembl
- ENSG00000134343
- Chromosome
- 11
- Canonical length
- 981 aa
- Protein class
- Disease related genes, Human disease related genes, Potential drug targets, Predicted intracellular proteins, Predicted membrane proteins, Transporters
- Subcellular location
- Microtubules,Primary cilium
OverviewNCBI Gene
The protein encoded by this gene belongs to the TMEM16 family of predicted membrane proteins, that are also known as anoctamins. While little is known about the function of this gene, mutations in this gene have been associated with some cases of autosomal dominant craniocervical dystonia. Cells from individuals with a mutation in this gene exhibited abnormalities in endoplasmic reticulum-dependent calcium signaling. Studies in rat show that the rat ortholog of this protein interacts with, and modulates the activity of a sodium-activated potassium channel. Deletion of this gene caused increased pain sensitivity in the rat model system. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
Canonical amino-acid sequenceUniProt
981 residues, UniProt reviewed canonical sequence.
>Q9BYT9|ANO3
1 MVHHSGSIQS FKQQKGMNIS KSEITKETSL KPSRRSLPCL AQSYAYSKSL SQSTSLFQST
61 ESESQAPTSI TLISTDKAEQ VNTEENKNDS VLRCSFADLS DFCLALGKDK DYTDESEHAT
121 YDRSRLINDF VIKDKSEFKT KLSKNDMNYI ASSGPLFKDG KKRIDYILVY RKTNIQYDKR
181 NTFEKNLRAE GLMLEKEPAI ASPDIMFIKI HIPWDTLCKY AERLNIRMPF RKKCYYTDGR
241 SKSMGRMQTY FRRIKNWMAQ NPMVLDKSAF PDLEESDCYT GPFSRARIHH FIINNKDTFF
301 SNATRSRIVY HMLERTKYEN GISKVGIRKL INNGSYIAAF PPHEGAYKSS QPIKTHGPQN
361 NRHLLYERWA RWGMWYKHQP LDLIRLYFGE KIGLYFAWLG WYTGMLIPAA IVGLCVFFYG
421 LFTMNNSQVS QEICKATEVF MCPLCDKNCS LQRLNDSCIY AKVTYLFDNG GTVFFAIFMA
481 IWATVFLEFW KRRRSILTYT WDLIEWEEEE ETLRPQFEAK YYKMEIVNPI TGKPEPHQPS
541 SDKVTRLLVS VSGIFFMISL VITAVFGVVV YRLVVMEQFA SFKWNFIKQY WQFATSAAAV
601 CINFIIIMLL NLAYEKIAYL LTNLEYPRTE SEWENSFALK MFLFQFVNLN SSIFYIAFFL
661 GRFVGHPGKY NKLFDRWRLE ECHPSGCLID LCLQMGVIMF LKQIWNNFME LGYPLIQNWW
721 SRHKIKRGIH DASIPQWEND WNLQPMNLHG LMDEYLEMVL QFGFTTIFVA AFPLAPLLAL
781 LNNIIEIRLD AYKFVTQWRR PLPARATDIG IWLGILEGIG ILAVITNAFV IAITSDYIPR
841 FVYEYKYGPC ANHVEPSENC LKGYVNNSLS FFDLSELGMG KSGYCRYRDY RGPPWSSKPY
901 EFTLQYWHIL AARLAFIIVF EHLVFGIKSF IAYLIPDVPK GLHDRIRREK YLVQEMMYEA
961 ELEHLQQQRR KSGQPVHHEW PLocalizationUniProt · AlphaFold · HPA
Whether an antibody against ANO3 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.
- Antibody reachability
- Cell surface
- Secreted
- No
- Transmembrane segments
- 8
- Mean surface accessibility (rSASA)
- 0.33
- Highest tissue expression
- 58 nTPM
Expression across tissuesHPA
Tissue
- basal ganglia: 58 nTPM
- epididymis: 54 nTPM
- cerebral cortex: 6.7 nTPM
- hippocampal formation: 5 nTPM
- amygdala: 4.3 nTPM
- adipose tissue: 2.8 nTPM
Single-cell type
- brain inhibitory neurons: 405 nCPM
- hepatic stellate cells: 284 nCPM
- epididymal principal cells: 202 nCPM
- adipocytes: 199 nCPM
- brain excitatory neurons: 165 nCPM
- pericytes: 96 nCPM
Immune cell
- basophil: 0 nTPM
- classical monocyte: 0 nTPM
- eosinophil: 0 nTPM
- gdT-cell: 0 nTPM
- intermediate monocyte: 0 nTPM
- MAIT T-cell: 0 nTPM
Brain region
- basal ganglia: 130 nTPM
- cerebral cortex: 24 nTPM
- hippocampal formation: 23 nTPM
- amygdala: 14 nTPM
- pons: 12 nTPM
- white matter: 11 nTPM
DiseaseUniProt · ClinVar · IEDB · PubMed
Four sources answering four different questions about ANO3.
Disease | AllUniProt
Conditions ANO3 is implicated in, by any mechanism.
- Dystonia 24 (DYT24) MIM:615034
Disease | GeneticClinVar
12 pathogenic / likely-pathogenic of 649 ClinVar records.
Conditions with pathogenic or likely-pathogenic variants.
- Dystonia 24
- Dystonic disorder
- Inborn genetic diseases
Disease | ImmuneIEDB
Conditions an epitope on ANO3 was assayed in.
- skin melanoma T cell
Genetic constraint and essentialitygnomAD · DepMap
Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.
- gnomAD LOEUF (loss-of-function intolerance)
- 0.77
- gnomAD pLI
- 0
- gnomAD missense Z
- 2.46
- DepMap mean gene effect
- -0.01
- DepMap dependency class
- none
Cancer expressionTCGA
Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).
OntologyGO
Biological processes
- calcium activated galactosylceramide scrambling
- calcium activated phosphatidylcholine scrambling
- chloride transmembrane transport
- detection of mechanical stimulus
- detection of temperature stimulus
- establishment of localization in cell
- monoatomic ion transmembrane transport
Molecular functions
Cellular components
Protein domainsUniProt · Pfam · InterPro
KeywordsUniProt
Antibody and autoantibody relevanceSeroatlas analysis
Seroatlas reads ANO3 as an antibody target. Whether an autoantibody or antibody against ANO3 could matter depends on whether native ANO3 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.
ANO3 is annotated at the cell surface, where native ANO3 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.
Annotation status
The present source text does not explicitly label ANO3 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.
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