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    ANO3 anoctamin 3 [ Homo sapiens (human) ]

    Gene ID: 63982, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See ANO3 in Genome Data Viewer
    Location:
    11p14.3-p14.2
    Exon count:
    33
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (26188808..26663289)
    RS_2024_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

    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 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. Broadening the clinical spectrum: molecular mechanisms and new phenotypes of ANO3-dystonia. Ousingsawat J, et al. Brain, 2024 Jun 3. PMID 38079528
    2. Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels? Duran C, et al. Acta Pharmacol Sin, 2011 Jun. PMID 21642943, Free PMC Article
    3. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Charlesworth G, et al. Am J Hum Genet, 2012 Dec 7. PMID 23200863, Free PMC Article
    4. Rare variants in ANO3 are not a susceptibility factor in essential tremor. Hopfner F, et al. Parkinsonism Relat Disord, 2014 Jan. PMID 24094724
    5. The phenotypic spectrum of DYT24 due to ANO3 mutations. Stamelou M, et al. Mov Disord, 2014 Jun. PMID 24442708, Free PMC Article

    See all (33) 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)

    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
    		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

    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
    		  
    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
    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_2024_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

    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

    Gene LinkOut

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

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