Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ANO3 Gene

Aliases for ANO3 Gene

  • Anoctamin 3 2 3 5
  • Transmembrane Protein 16C (Eight Membrane-Spanning Domains) 2 3
  • Transmembrane Protein 16C 2 4
  • C11orf25 3 4
  • TMEM16C 3 4
  • Chromosome 11 Open Reading Frame 25 2
  • Anoctamin-3 3
  • GENX-3947 3
  • DYT23 3
  • DYT24 3

External Ids for ANO3 Gene

Previous HGNC Symbols for ANO3 Gene

  • C11orf25
  • TMEM16C

Previous GeneCards Identifiers for ANO3 Gene

  • GC11P026310
  • GC11P026049

Summaries for ANO3 Gene

Entrez Gene Summary for ANO3 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]

GeneCards Summary for ANO3 Gene

ANO3 (Anoctamin 3) is a Protein Coding gene. Diseases associated with ANO3 include Dystonia 24 and Dystonia. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include intracellular calcium activated chloride channel activity and phospholipid scramblase activity. An important paralog of this gene is ANO4.

UniProtKB/Swiss-Prot for ANO3 Gene

  • Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity.

Additional gene information for ANO3 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANO3 Gene

Genomics for ANO3 Gene

GeneHancer (GH) Regulatory Elements for ANO3 Gene

Promoters and enhancers for ANO3 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH11J026331 Promoter/Enhancer 1.4 EPDnew Ensembl ENCODE 661.5 +143.4 143418 0.7 CTCF MXI1 SAP130 SIN3A BMI1 RAD21 RBPJ ZKSCAN1 ZFHX2 POLR2A ANO3 LOC105376598 ENSG00000255505
GH11J026187 Enhancer 0.8 ENCODE 650.7 -1.0 -952 0.2 ELF3 FOXA2 ZSCAN9 RAD21 RFX5 YY1 RCOR1 FOS MIXL1 DEK ANO3 ENSG00000255243 GC11M026130 LOC100533706
GH11J026188 Promoter 0.6 EPDnew 650.7 0.0 -32 0.1 TAF1 ANO3 ENSG00000255243 GC11M026130 LOC100533706
GH11J026226 Enhancer 0.9 Ensembl ENCODE 16.2 +40.6 40590 5.2 CTCF MXI1 JUN MAX RAD21 RFX5 POLR2A SMC3 RCOR1 FOS ANO3 ENSG00000255243 GC11M026130 LOC105376599
GH11J026079 Enhancer 0.5 dbSUPER 10.5 -108.5 -108488 0.9 PKNOX1 MAX USF2 MNT ANO3 ENSG00000255243 LOC100533706
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ANO3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ANO3 gene promoter:

Genomic Locations for ANO3 Gene

Genomic Locations for ANO3 Gene
479,589 bases
Plus strand

Genomic View for ANO3 Gene

Genes around ANO3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANO3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANO3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANO3 Gene

Proteins for ANO3 Gene

  • Protein details for ANO3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • B7Z3F5

    Protein attributes for ANO3 Gene

    981 amino acids
    Molecular mass:
    114657 Da
    Quaternary structure:
    • Interacts with KCNT1/Slack.
    • The term anoctamin was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology.

    Alternative splice isoforms for ANO3 Gene


neXtProt entry for ANO3 Gene

Post-translational modifications for ANO3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ANO3 Gene

Domains & Families for ANO3 Gene

Gene Families for ANO3 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Transporters

Protein Domains for ANO3 Gene


Graphical View of Domain Structure for InterPro Entry



  • Belongs to the anoctamin family.
  • Belongs to the anoctamin family.
genes like me logo Genes that share domains with ANO3: view

Function for ANO3 Gene

Molecular function for ANO3 Gene

UniProtKB/Swiss-Prot Function:
Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylcholine and galactosylceramide. Seems to act as potassium channel regulator and may inhibit pain signaling; can facilitate KCNT1/Slack channel activity by promoting its full single-channel conductance at very low sodium concentrations and by increasing its sodium sensitivity (By similarity). Does not exhibit calcium-activated chloride channel (CaCC) activity.

Phenotypes From GWAS Catalog for ANO3 Gene

Gene Ontology (GO) - Molecular Function for ANO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005229 intracellular calcium activated chloride channel activity TAS --
GO:0017128 phospholipid scramblase activity IEA --
GO:0046983 protein dimerization activity IEA --
genes like me logo Genes that share ontologies with ANO3: view
genes like me logo Genes that share phenotypes with ANO3: view

Human Phenotype Ontology for ANO3 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ANO3 Gene

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ANO3 Gene

Localization for ANO3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANO3 Gene

Cell membrane; Multi-pass membrane protein. Note=Shows an intracellular localization. {ECO:0000250}.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANO3 gene
Compartment Confidence
plasma membrane 5

Gene Ontology (GO) - Cellular Components for ANO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ANO3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ANO3 Gene

Pathways & Interactions for ANO3 Gene

genes like me logo Genes that share pathways with ANO3: view

Pathways by source for ANO3 Gene

Interacting Proteins for ANO3 Gene

Gene Ontology (GO) - Biological Process for ANO3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006869 lipid transport IEA --
GO:0016048 detection of temperature stimulus IEA --
GO:0034220 ion transmembrane transport TAS --
GO:0050982 detection of mechanical stimulus IEA --
GO:0061588 calcium activated phospholipid scrambling IEA --
genes like me logo Genes that share ontologies with ANO3: view

No data available for SIGNOR curated interactions for ANO3 Gene

Drugs & Compounds for ANO3 Gene

(1) Drugs for ANO3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Approved Nutra 0

(1) Additional Compounds for ANO3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Chloride(1-)
  • Chlorine anion
  • CL(-)
  • Bertholite
  • Chloor
genes like me logo Genes that share compounds with ANO3: view

Transcripts for ANO3 Gene

mRNA/cDNA for ANO3 Gene

(4) Selected AceView cDNA sequences:
(8) Additional mRNA sequences :
(6) REFSEQ mRNAs :
(5) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ANO3 Gene

Anoctamin 3:
Representative Sequences:

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ANO3 Gene

No ASD Table

Relevant External Links for ANO3 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for ANO3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ANO3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ANO3 Gene

This gene is overexpressed in Brain - Putamen (basal ganglia) (x16.0), Brain - Caudate (basal ganglia) (x15.3), and Brain - Nucleus accumbens (basal ganglia) (x11.4).

Protein differential expression in normal tissues from HIPED for ANO3 Gene

This gene is overexpressed in Stomach (57.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ANO3 Gene

Protein tissue co-expression partners for ANO3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ANO3 Gene:


SOURCE GeneReport for Unigene cluster for ANO3 Gene:


mRNA Expression by UniProt/SwissProt for ANO3 Gene:

Tissue specificity: Highly expressed in the forebrain striatum.

Evidence on tissue expression from TISSUES for ANO3 Gene

  • Nervous system(4.6)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANO3 Gene

Germ Layers:
  • ectoderm
  • mesoderm
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • head
  • neck
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with ANO3: view

Orthologs for ANO3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANO3 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia ANO3 34 33
  • 99.66 (n)
(Bos Taurus)
Mammalia ANO3 34 33
  • 91.68 (n)
(Canis familiaris)
Mammalia ANO3 34 33
  • 91.26 (n)
(Rattus norvegicus)
Mammalia Ano3 33
  • 89.44 (n)
(Mus musculus)
Mammalia Ano3 16 34 33
  • 89.19 (n)
(Ornithorhynchus anatinus)
Mammalia ANO3 34
  • 77 (a)
(Monodelphis domestica)
Mammalia ANO3 34
  • 72 (a)
(Gallus gallus)
Aves ANO3 34 33
  • 75.15 (n)
(Anolis carolinensis)
Reptilia ANO3 34
  • 75 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia ano3 33
  • 72.15 (n)
Str.2041 33
African clawed frog
(Xenopus laevis)
Amphibia Xl.18778 33
(Danio rerio)
Actinopterygii ano3 34 33
  • 67.57 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG6938 34
  • 30 (a)
Species where no ortholog for ANO3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANO3 Gene

Gene Tree for ANO3 (if available)
Gene Tree for ANO3 (if available)
Evolutionary constrained regions (ECRs) for ANO3: view image

Paralogs for ANO3 Gene

Paralogs for ANO3 Gene

(7) SIMAP similar genes for ANO3 Gene using alignment to 4 proteins:

  • B7Z3F5_HUMAN
  • E9PQ79_HUMAN
genes like me logo Genes that share paralogs with ANO3: view

Variants for ANO3 Gene

Sequence variations from dbSNP and Humsavar for ANO3 Gene

SNP ID Clin Chr 11 pos Variation AA Info Type
rs117748217 benign, Dystonia 26,660,309(+) C/T coding_sequence_variant, synonymous_variant
rs138168552 benign, Dystonia 26,647,815(+) C/T coding_sequence_variant, synonymous_variant
rs146532706 benign, Dystonia 26,525,656(+) C/T 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, synonymous_variant
rs149050831 uncertain-significance, benign, not provided, Dystonia 26,634,298(+) C/A/T coding_sequence_variant, synonymous_variant
rs150506041 benign, Dystonia 26,660,315(+) A/G coding_sequence_variant, synonymous_variant

Structural Variations from Database of Genomic Variants (DGV) for ANO3 Gene

Variant ID Type Subtype PubMed ID
dgv1725n54 CNV gain 21841781
dgv605n106 CNV deletion 24896259
esv1378455 CNV insertion 17803354
esv1774662 CNV deletion 17803354
esv1978126 CNV deletion 18987734
esv2422406 CNV deletion 17116639
esv2744278 CNV deletion 23290073
esv2744279 CNV deletion 23290073
esv2744280 CNV deletion 23290073
esv2744281 CNV deletion 23290073
esv2744282 CNV deletion 23290073
esv2744283 CNV deletion 23290073
esv2744284 CNV deletion 23290073
esv275492 CNV gain+loss 21479260
esv28385 CNV gain 19812545
esv28858 CNV gain 19812545
esv3302858 CNV tandem duplication 20981092
esv3372004 CNV insertion 20981092
esv3423459 CNV insertion 20981092
esv3547501 CNV deletion 23714750
esv3579447 CNV loss 25503493
esv3579448 CNV loss 25503493
esv3579450 CNV loss 25503493
esv3579452 CNV loss 25503493
esv3579453 CNV loss 25503493
esv3625748 CNV loss 21293372
esv3891956 CNV loss 25118596
esv997110 CNV deletion 20482838
nsv1039308 CNV loss 25217958
nsv1051211 CNV loss 25217958
nsv1070440 CNV deletion 25765185
nsv1070441 CNV deletion 25765185
nsv1122597 CNV deletion 24896259
nsv1139546 CNV duplication 24896259
nsv1140470 CNV tandem duplication 24896259
nsv38806 CNV deletion 16902084
nsv467778 CNV loss 19166990
nsv467779 CNV loss 19166990
nsv478783 CNV novel sequence insertion 20440878
nsv521916 CNV loss 19592680
nsv522526 CNV gain 19592680
nsv553899 CNV loss 21841781
nsv553901 CNV gain 21841781
nsv553907 CNV loss 21841781
nsv553908 CNV loss 21841781
nsv957871 CNV deletion 24416366
nsv958604 CNV deletion 24416366
nsv975163 CNV duplication 23825009

Variation tolerance for ANO3 Gene

Residual Variation Intolerance Score: 3.83% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.47; 28.79% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ANO3 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANO3 Gene

Disorders for ANO3 Gene

MalaCards: The human disease database

(5) MalaCards diseases for ANO3 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dystonia 24
  • dyt24
  • dystonic disease
focal dystonia
  • dystonia, focal, task-specific
early-onset generalized dystonia
  • dystonia 1
essential tremor
  • benign essential tremor
- elite association - COSMIC cancer census association via MalaCards
Search ANO3 in MalaCards View complete list of genes associated with diseases


  • Dystonia 24 (DYT24) [MIM:615034]: A form of dystonia, a disorder defined by the presence of sustained involuntary muscle contraction, often leading to abnormal postures. DYT24 is an autosomal dominant focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs. {ECO:0000269 PubMed:23200863}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ANO3

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ANO3: view

No data available for Genatlas for ANO3 Gene

Publications for ANO3 Gene

  1. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. (PMID: 23200863) Charlesworth G … Wood NW (American journal of human genetics 2012) 2 3 4 58
  2. FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products. (PMID: 12739008) Katoh M … Katoh M (International journal of oncology 2003) 2 3 22 58
  3. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N … Galietta LJ (Physiological reviews 2014) 2 3 58
  4. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. (PMID: 21984732) Scudieri P … Galietta LJ (Experimental physiology 2012) 3 4 58
  5. Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels? (PMID: 21642943) Duran C … Hartzell HC (Acta pharmacologica Sinica 2011) 3 4 58

Products for ANO3 Gene

Sources for ANO3 Gene

Loading form....