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ANO3 anoctamin 3 [ Homo sapiens (human) ]

Gene ID: 63982, updated on 11-Apr-2024

Summary

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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
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Genomic context

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Location:
11p14.3-p14.2
Exon count:
33
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (26188808..26663289)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (26329688..26803844)
105.20220307 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

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. A novel ANO3 variant in two siblings with different phenotypes. Esposito M, et al. Parkinsonism Relat Disord, 2023 Jun. PMID 37116293
  2. The expanding clinical and genetic spectrum of ANO3 dystonia. Jiang LT, et al. Neurosci Lett, 2021 Feb 16. PMID 33388357
  3. Role of ANO3 mutations in dystonia: A large-scale mutational screening study. Olschewski L, et al. Parkinsonism Relat Disord, 2019 May. PMID 30712998
  4. Novel heterozygous mutation in ANO3 responsible for craniocervical dystonia. Miltgen M, et al. Mov Disord, 2016 Aug. PMID 27392807
  5. TMEM16 proteins: unknown structure and confusing functions. Picollo A, et al. J Mol Biol, 2015 Jan 16. PMID 25451786, Free PMC Article

See all (30) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. 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.
  2. A novel ANO3 variant in two siblings with different phenotypes.
    Title: A novel ANO3 variant in two siblings with different phenotypes.
  3. The expanding clinical and genetic spectrum of ANO3 dystonia.
    Title: The expanding clinical and genetic spectrum of ANO3 dystonia.
  4. 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.
  5. 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.
  6. 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.
  7. 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.
  8. This study demonstrated that Mutations in ANO3 may cause Dystonia.
    Title: Mutations in ANO3 and GNAL gene in thirty-three isolated dystonia families.
  9. 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.
  10. ANO3 causes a varied phenotype of young-onset or adult-onset craniocervical dystonia with tremor and/or myoclonic jerks
    Title: The phenotypic spectrum of DYT24 due to ANO3 mutations.
Submit: New GeneRIF Correction See all GeneRIFs (16)

Phenotypes

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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
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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

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables chloride channel activity IBA
Inferred from Biological aspect of Ancestor
more info
  
NOT enables intracellularly calcium-gated chloride channel activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables intracellularly calcium-gated chloride channel activity TAS
Traceable Author Statement
more info
  
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
involved_in calcium activated galactosylceramide scrambling IEA
Inferred from Electronic Annotation
more info
  
involved_in 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
  
involved_in establishment of localization in cell IEA
Inferred from Electronic Annotation
more info
  
involved_in monoatomic ion transmembrane transport TAS
Traceable Author Statement
more info
  
Component Evidence Code Pubs
is_active_in plasma membrane IBA
Inferred from Biological aspect of Ancestor
more info
  
located_in plasma membrane TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
anoctamin-3
Names
dystonia 23
transmembrane protein 16C (eight membrane-spanning domains)

NCBI Reference Sequences (RefSeq)

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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_2023_10

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

  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

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

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

  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

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