U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

ANO3 anoctamin 3 [ Homo sapiens (human) ]

Gene ID: 63982, updated on 5-Sep-2025
Official Symbol
ANO3provided by HGNC
Official Full Name
anoctamin 3provided by HGNC
Primary source
HGNC:HGNC:14004
See related
Ensembl:ENSG00000134343 MIM:610110; AllianceGenome:HGNC:14004
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DYT23; DYT24; TMEM16C; C11orf25; GENX-3947
Summary
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]
Expression
Biased expression in brain (RPKM 4.4), fat (RPKM 2.2) and 7 other tissues See more
Orthologs
mouse all
NEW
Try the new Gene table
Try the new Transcript table
See ANO3 in Genome Data Viewer
Location:
11p14.3-p14.2
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2025_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (26188808..26663289)
RS_2025_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (26329688..26803844)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (26210355..26684836)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene long intergenic non-protein coding RNA 2699 Neighboring gene V-type proton ATPase subunit G 1-like Neighboring gene ReSE screen-validated silencer GRCh37_chr11:25933512-25933749 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:25965255-25965780 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:25965781-25966304 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr11:25987090-25988289 Neighboring gene NEDD8 activating enzyme E1 subunit 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4540 Neighboring gene uncharacterized LOC105376598 Neighboring gene ANO3 antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:26544561-26545120 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:26545121-26545680 Neighboring gene uncharacterized LOC124902648 Neighboring gene uncharacterized LOC107987160 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4541 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4542 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:26707661-26708860 Neighboring gene mucin 15, cell surface associated Neighboring gene solute carrier family 5 member 12 Neighboring gene uncharacterized LOC124902649

Go to nucleotide: Graphics FASTA GenBank

  • Project title: Tissue-specific circular RNA induction during human fetal development
  • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
  • BioProject: PRJNA270632
  • Publication: PMID 26076956
  • Analysis date: Mon Apr 2 22:54:59 2018

Related articles in PubMed

  1. The phenotypic spectrum of DYT24 due to ANO3 mutations. Stamelou M, et al. Mov Disord, 2014 Jun. PMID 24442708, Free PMC Article
  2. Rare variants in ANO3 are not a susceptibility factor in essential tremor. Hopfner F, et al. Parkinsonism Relat Disord, 2014 Jan. PMID 24094724
  3. The Clinical Spectrum of ANO3-Report of a New Family and Literature Review. Percetti M, et al. Mov Disord Clin Pract, 2024 Mar. PMID 38284143, Free PMC Article
  4. Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia. Ousingsawat J, et al. Brain, 2024 Jun 3. PMID 38079528
  5. A novel ANO3 variant in two siblings with different phenotypes. Esposito M, et al. Parkinsonism Relat Disord, 2023 Jun. PMID 37116293

See all (36) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.
    Title: Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia.
  2. The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.
    Title: The Clinical Spectrum of ANO3-Report of a New Family and Literature Review.
  3. A novel ANO3 variant in two siblings with different phenotypes.
    Title: A novel ANO3 variant in two siblings with different phenotypes.
  4. The expanding clinical and genetic spectrum of ANO3 dystonia.
    Title: The expanding clinical and genetic spectrum of ANO3 dystonia.
  5. De-novo genetic variants in childhood-onset, generalized dystonia represent underestimated phenotypic expression changes in ANO3.
    Title: Role of ANO3 mutations in dystonia: A large-scale mutational screening study.
  6. Study reports a novel c.1969G>A mutation in the ANO3 gene in a family presenting with a typical dystonia phenotype consistent with previous reports: onset mainly after the fourth decade, begins as cervical dystonia, but evolves to segmental dystonia, without leg involvement or any generalized dystonia.
    Title: Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia.
  7. This study demonstrated that whole-exome sequencing show reveled ANO3 mutation with early-onset generalized dystonia.
    Title: Clinical exome sequencing in early-onset generalized dystonia and large-scale resequencing follow-up.
  8. HTRA2 and ANO3 mutations are not common causes of essential tremor
    Title: A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.
  9. This study demonstrated that Mutations in ANO3 may cause Dystonia.
    Title: Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.
  10. rat Ano3 (also known as Tmem16c) interacts with, and alters the activity of the sodium-activated potassium channel Slack. Reduced expression of Ano3 in rat models results in increased pain sensitivity.
    Title: TMEM16C facilitates Na(+)-activated K+ currents in rat sensory neurons and regulates pain processing.
Submit: New GeneRIF Correction See all GeneRIFs (17)

Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Dystonia 24
MedGen: C3554374 OMIM: 615034 GeneReviews: Hereditary Dystonia Overview
Compare labs

EBI GWAS Catalog

Description
Common body mass index-associated variants confer risk of extreme obesity.
EBI GWAS Catalog
Common variants associated with general and MMR vaccine-related febrile seizures.
EBI GWAS Catalog

See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables chloride channel activity TAS
Traceable Author Statement
more info
  
NOT enables intracellularly calcium-gated chloride channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables phospholipid scramblase activity IEA
Inferred from Electronic Annotation
more info
  
enables protein dimerization activity IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
acts_upstream_of_or_within calcium activated galactosylceramide scrambling IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within calcium activated phosphatidylcholine scrambling IEA
Inferred from Electronic Annotation
more info
  
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in detection of mechanical stimulus IEA
Inferred from Electronic Annotation
more info
  
involved_in detection of temperature stimulus IEA
Inferred from Electronic Annotation
more info
  
acts_upstream_of_or_within establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in lipid transport IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transmembrane transport TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
located_in membrane IEA
Inferred from Electronic Annotation
more info
  
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane IEA
Inferred from Electronic Annotation
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  
Preferred Names
anoctamin-3
Names
dystonia 23
transmembrane protein 16C (eight membrane-spanning domains)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_042856.1 RefSeqGene

    Range
    148008..479167
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001313726.2 → NP_001300655.1  anoctamin-3 isoform 1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AC079064, AC083755, AC099687, AJ300461, AK304781, BF591994, BQ430769, DA247850, X81896
    Consensus CDS
    CCDS91452.1
    UniProtKB/TrEMBL
    A0A5F9ZHL6, E9PQ79
    Related
    ENSP00000500506.1, ENST00000672621.1
    Conserved Domains (2) summary
    pfam04547
    Location:445 → 1011
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:218 → 442
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

  2. NM_001313727.2 → NP_001300656.1  anoctamin-3 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream start codon, compared to variant 1. The encoded isoform (3) has a shorter N-terminus than isoform 1.
    Source sequence(s)
    AC079064, AC083755, AJ300461, BP219022, BQ430769, X81896
    Consensus CDS
    CCDS81557.1
    UniProtKB/TrEMBL
    B7Z9Q3
    Related
    ENSP00000432394.1, ENST00000531568.1
    Conserved Domains (2) summary
    pfam04547
    Location:238 → 803
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:11 → 235
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

  3. NM_031418.4 → NP_113606.2  anoctamin-3 isoform 2

    See identical proteins and their annotated locations for NP_113606.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, contains an alternate 5' terminal exon, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) has a distinct N-terminus and is shorter than isoform 1.
    Source sequence(s)
    AC021698, AC079064, AC083755, AJ300461, BQ430769, DA247850, X81896
    Consensus CDS
    CCDS31447.1
    UniProtKB/Swiss-Prot
    B7Z3F5, Q9BYT9
    UniProtKB/TrEMBL
    E9PQ79
    Related
    ENSP00000256737.3, ENST00000256737.8
    Conserved Domains (2) summary
    pfam04547
    Location:384 → 949
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:163 → 381
    Anoct_dimer; Dimerisation domain of Ca+-activated chloride-channel, anoctamin

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2025_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    26188808..26663289
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047427399.1 → XP_047283355.1  anoctamin-3 isoform X1

    UniProtKB/TrEMBL
    E9PQ79

  2. XM_017018118.3 → XP_016873607.1  anoctamin-3 isoform X2

    UniProtKB/TrEMBL
    B7Z9Q3
    Conserved Domains (2) summary
    pfam04547
    Location:238 → 803
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:11 → 235
    Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

  3. XM_017018119.3 → XP_016873608.1  anoctamin-3 isoform X3

    UniProtKB/TrEMBL
    B7Z9Q3

  4. XM_011520282.4 → XP_011518584.1  anoctamin-3 isoform X4

    Conserved Domains (1) summary
    pfam04547
    Location:17 → 484
    Anoctamin; Calcium-activated chloride channel

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    26329688..26803844
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054369622.1 → XP_054225597.1  anoctamin-3 isoform X1

    UniProtKB/TrEMBL
    E9PQ79

  2. XM_054369623.1 → XP_054225598.1  anoctamin-3 isoform X2

    UniProtKB/TrEMBL
    B7Z9Q3

  3. XM_054369624.1 → XP_054225599.1  anoctamin-3 isoform X3

    UniProtKB/TrEMBL
    B7Z9Q3

  4. XM_054369625.1 → XP_054225600.1  anoctamin-3 isoform X4

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9BYT9.2 GenPept UniProtKB/Swiss-Prot:Q9BYT9

Gene LinkOut

The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

Chemical Information
Molecular Biology Databases
Research Materials
Tools
Miscellaneous