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    ANO10 anoctamin 10 [ Homo sapiens (human) ]

    Gene ID: 55129, updated on 6-Nov-2024

    Summary

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    Official Symbol
    ANO10provided by HGNC
    Official Full Name
    anoctamin 10provided by HGNC
    Primary source
    HGNC:HGNC:25519
    See related
    Ensembl:ENSG00000160746 MIM:613726; AllianceGenome:HGNC:25519
    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
    SCAR10; TMEM16K
    Summary
    The transmembrane protein encoded by this gene belongs to the anoctamin family of calcium-activated chloride channels, also known as the transmembrane 16 family. The encoded protein contains eight transmembrane domains with cytosolic N- and C-termini. Defects in this gene may cause autosomal recessive spinocerebellar ataxia-10. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2016]
    Expression
    Ubiquitous expression in duodenum (RPKM 19.4), small intestine (RPKM 16.9) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANO10 in Genome Data Viewer
    Location:
    3p22.1-p21.33
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (43365848..43691594, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (43381160..43707182, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (43407340..43733086, complement)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene MPRA-validated peak4622 silencer Neighboring gene RNA, 7SL, cytoplasmic 517, pseudogene Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43410923-43411423 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43413051-43413632 Neighboring gene Sharpr-MPRA regulatory region 1625 Neighboring gene SNF related kinase Neighboring gene SNRK antisense RNA 1 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:43496575-43497774 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:43520239-43520811 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:43532352-43532852 Neighboring gene ribosomal protein L18a pseudogene 9 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr3:43577638-43578572 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43607028-43607750 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14256 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43663772-43664424 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:43664425-43665077 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14257 Neighboring gene ReSE screen-validated silencer GRCh37_chr3:43744690-43744834 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:43794737-43795936 Neighboring gene tubulin alpha pseudogene 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14258 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43811957-43812456 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43814823-43815349 Neighboring gene abhydrolase domain containing 5, lysophosphatidic acid acyltransferase Neighboring gene uncharacterized LOC107986081 Neighboring gene NANOG hESC enhancer GRCh37_chr3:43896214-43896715 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43897541-43898042 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr3:43898043-43898542 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14259 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19753 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14260 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19754 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19755 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14261 Neighboring gene uncharacterized LOC124909489 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:44055399-44056148 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19756 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19757 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19758 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19759 Neighboring gene RNA, U6 small nuclear 367, pseudogene

    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. Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study. Renaud M, et al. JAMA Neurol, 2014 Oct. PMID 25089919
    2. ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency. Balreira A, et al. J Neurol, 2014 Nov. PMID 25182700, Free PMC Article
    3. Autosomal recessive cerebellar ataxia 3 due to homozygote c.132dupA mutation within the ANO10 gene--reply. Koenig M, et al. JAMA Neurol, 2015 Feb. PMID 25664551
    4. ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. Chamova T, et al. J Neurol, 2012 May. PMID 22008874
    5. Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia. Mišković ND, et al. Mov Disord, 2016 Dec. PMID 27787937

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. [Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes].
      Title: [Rare forms of autosomal recessive spinocerebellar ataxia associated with mutations in the ANO10 (ATX-ANO10) and SYNE1 (ATX-SYNE1) genes].
    2. TMEM16K is an interorganelle regulator of endosomal sorting.
      Title: TMEM16K is an interorganelle regulator of endosomal sorting.
    3. Cognitive impairment seems to be a characteristic of the SCAR10 produced by an ANO10 gene mutation, with a range from mild impairment, especially involving prefrontal systems, to a severe cognitive impairment suggesting widespread cerebral involvement.
      Title: Cognitive characterization of SCAR10 caused by a homozygous c.132dupA mutation in the ANO10 gene.
    4. Data show that transmembrane protein 16K (TMEM16K) is an endoplasmic reticulum (ER)-resident lipid scramblase with a requirement for short chain lipids and calcium for robust activity.
      Title: The structural basis of lipid scrambling and inactivation in the endoplasmic reticulum scramblase TMEM16K.
    5. ANO10 mutations cause recessive ataxias.
      Title: ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
    6. This study describe 2 Romani families from Serbia presenting with seemingly dominant (multiple affected individuals in successive generations) cerebellar ataxia, both harboring the same homozygous (recessive) mutation in ANO10, identified by whole-exome sequencing.
      Title: Seemingly dominant inheritance of a recessive ANO10 mutation in romani families with cerebellar ataxia.
    7. mutations in ANO10 cause cellular defects and genetic disorders through deranged local Ca(2+) signaling.
      Title: Cellular defects by deletion of ANO10 are due to deregulated local calcium signaling.
    8. results suggest that executive and attentional disorders are impaired in ANO10 mutation
      Title: Executive and Attentional Disorders, Epilepsy and Porencephalic Cyst in Autosomal Recessive Cerebellar Ataxia Type 3 Due to ANO10 Mutation.
    9. ANO10 has a central role in innate immune defense against Borrelia infection.
      Title: A Coding Variant of ANO10, Affecting Volume Regulation of Macrophages, Is Associated with Borrelia Seropositivity.
    10. The detection of mutations in ANO10 indicate that ANO10 defects cause secondary low coenzyme Q10.
      Title: ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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
    Autosomal recessive spinocerebellar ataxia 10
    MedGen: C3150998 OMIM: 613728 GeneReviews: Hereditary Ataxia Overview
    		Compare labs

    EBI GWAS Catalog

    Description
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    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

    Clone Names

    • FLJ10375, MGC47890

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-activated cation channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 intracellularly calcium-gated chloride channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chloride transmembrane transport IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in monoatomic cation transmembrane 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 intracellular membrane-bounded organelle IDA
    Inferred from Direct Assay
    more info
    		  
    located_in membrane HDA PubMed 
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in plasma membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    anoctamin-10
    Names
    transmembrane protein 16K

    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_028216.2 RefSeqGene

      Range
      74584..330747
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001204831.3 → NP_001191760.1  anoctamin-10 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has multiple differences in the 3' coding region and differs in the 3' UTR, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
      Source sequence(s)
      AA252209, AC104184, AK096302, AK297949
      Consensus CDS
      CCDS56250.1
      UniProtKB/Swiss-Prot
      Q9NW15
      Related
      ENSP00000396990.2, ENST00000414522.6
      Conserved Domains (1) summary
      pfam04547
      Location:200 → 598
      Anoctamin; Calcium-activated chloride channel

    2. NM_001204832.3 → NP_001191761.1  anoctamin-10 isoform 3

      See identical proteins and their annotated locations for NP_001191761.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 5' coding region, compared to variant 1. The resulting isoform (3) is shorter, compared to isoform 1. Variants 3, 9, and 12 encode the same isoform.
      Source sequence(s)
      AA252209, AC104184, AK096302, AK131223
      Consensus CDS
      CCDS56248.1
      UniProtKB/Swiss-Prot
      Q9NW15
      Related
      ENSP00000379398.3, ENST00000396091.7
      Conserved Domains (1) summary
      pfam04547
      Location:134 → 562
      Anoctamin; Calcium-activated chloride channel

    3. NM_001204833.3 → NP_001191762.1  anoctamin-10 isoform 4

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks two alternate in-frame exons in the 5' coding region, compared to variant 1. The resulting isoform (4) is shorter, compared to isoform 1.
      Source sequence(s)
      AA252209, AC104184, AK096302, AK295969
      Consensus CDS
      CCDS56247.1
      UniProtKB/Swiss-Prot
      Q9NW15
      Related
      ENSP00000394119.2, ENST00000451430.6
      Conserved Domains (1) summary
      pfam04547
      Location:89 → 517
      Anoctamin; Calcium-activated chloride channel

    4. NM_001204834.3 → NP_001191763.1  anoctamin-10 isoform 5

      See identical proteins and their annotated locations for NP_001191763.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) lacks an alternate in-frame exon, compared to variant 1. The resulting isoform (5) is shorter, compared to isoform 1.
      Source sequence(s)
      AA252209, AC104184, AK096302, BC038855
      Consensus CDS
      CCDS56249.1
      UniProtKB/Swiss-Prot
      Q9NW15
      Related
      ENSP00000327767.4, ENST00000350459.8
      Conserved Domains (1) summary
      pfam04547
      Location:155 → 438
      Anoctamin; Calcium-activated chloride channel

    5. NM_001346463.2 → NP_001333392.1  anoctamin-10 isoform 6

      Status: REVIEWED

      Description
      Transcript Variant: This variant (6) has multiple differences in the 3' coding region, compared to variant 1. The resulting isoform (6) has the same length but differs in the sequence, compared to isoform 1.
      Source sequence(s)
      AA252209, AC104184, AK096302, CN333637
      UniProtKB/Swiss-Prot
      Q9NW15

    6. NM_001346464.2 → NP_001333393.1  anoctamin-10 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (7) contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (7) is longer, compared to isoform 1. Variants 7 and 10 encode the same isoform.
      Source sequence(s)
      AA252209, AC104184, AK096302, CN333637
      UniProtKB/Swiss-Prot
      Q9NW15

    7. NM_001346465.2 → NP_001333394.1  anoctamin-10 isoform 8

      Status: REVIEWED

      Description
      Transcript Variant: This variant (8) lacks an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (8) is shorter, compared to isoform 1.
      Source sequence(s)
      AA252209, AC104184, AK096302
      UniProtKB/Swiss-Prot
      Q9NW15

    8. NM_001346466.2 → NP_001333395.1  anoctamin-10 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (9) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to isoform 1. The resulting isoform (3) is shorter, compared to isoform 1. Variants 3, 9, and 12 encode the same isoform.
      Source sequence(s)
      AA252209, AC104184, AC105903, AK096302, AK131223, DA685104
      Consensus CDS
      CCDS56248.1
      UniProtKB/Swiss-Prot
      Q9NW15

    9. NM_001346467.2 → NP_001333396.1  anoctamin-10 isoform 7

      Status: REVIEWED

      Description
      Transcript Variant: This variant (10) differs in the 5' UTR and contains an alternate in-frame exon in the 3' coding region, compared to variant 1. The resulting isoform (7) is longer, compared to isoform 1. Variants 7 and 10 encode the same isoform.
      Source sequence(s)
      AA252209, AC104184, AC105903, AK096302, CN333637, DA685104
      UniProtKB/Swiss-Prot
      Q9NW15

    10. NM_001346468.2 → NP_001333397.1  anoctamin-10 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (11) differs in the 5' UTR, compared to variant 1. Variants 1 and 11 encode the same isoform.
      Source sequence(s)
      AA252209, AC104184, AK096302, DA551933
      Consensus CDS
      CCDS2710.2
      UniProtKB/Swiss-Prot
      A8K8K3, A8MV74, B3KTZ1, B3KY93, B4DJ83, B4DNK2, B7WP12, C9JHS1, Q8IXX9, Q9NW15

    11. NM_001346469.2 → NP_001333398.1  anoctamin-10 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (12) differs in the 5' UTR and lacks an alternate in-frame exon in the 5' coding region, compared to isoform 1. The resulting isoform (3) is shorter, compared to isoform 1. Variants 3, 9, and 12 encode the same isoform.
      Source sequence(s)
      AA252209, AC104184, AK096302, AK131223, DA551933
      Consensus CDS
      CCDS56248.1
      UniProtKB/Swiss-Prot
      Q9NW15

    12. NM_018075.5 → NP_060545.3  anoctamin-10 isoform 1

      See identical proteins and their annotated locations for NP_060545.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes isoform (1). Variants 1 and 11 encode the same isoform.
      Source sequence(s)
      AA252209, AC104184, AK096302
      Consensus CDS
      CCDS2710.2
      UniProtKB/Swiss-Prot
      A8K8K3, A8MV74, B3KTZ1, B3KY93, B4DJ83, B4DNK2, B7WP12, C9JHS1, Q8IXX9, Q9NW15
      Related
      ENSP00000292246.3, ENST00000292246.8
      Conserved Domains (1) summary
      pfam04547
      Location:200 → 628
      Anoctamin; Calcium-activated chloride channel

    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_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      43365848..43691594 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017006718.2 → XP_016862207.1  anoctamin-10 isoform X6

    2. XM_011533885.4 → XP_011532187.2  anoctamin-10 isoform X1

    3. XM_047448429.1 → XP_047304385.1  anoctamin-10 isoform X6

    4. XM_047448432.1 → XP_047304388.1  anoctamin-10 isoform X9

    5. XM_024453616.2 → XP_024309384.1  anoctamin-10 isoform X3

      Conserved Domains (1) summary
      pfam04547
      Location:200 → 638
      Anoctamin; Calcium-activated chloride channel

    6. XM_047448428.1 → XP_047304384.1  anoctamin-10 isoform X2

    7. XM_047448430.1 → XP_047304386.1  anoctamin-10 isoform X7

    8. XM_011533889.4 → XP_011532191.1  anoctamin-10 isoform X4

      Conserved Domains (1) summary
      pfam04547
      Location:200 → 637
      Anoctamin; Calcium-activated chloride channel

    9. XM_047448434.1 → XP_047304390.1  anoctamin-10 isoform X11

    10. XM_047448435.1 → XP_047304391.1  anoctamin-10 isoform X12

    11. XM_011533890.4 → XP_011532192.1  anoctamin-10 isoform X5

      Conserved Domains (1) summary
      pfam04547
      Location:200 → 637
      Anoctamin; Calcium-activated chloride channel

    12. XM_047448431.1 → XP_047304387.1  anoctamin-10 isoform X8

    13. XM_047448433.1 → XP_047304389.1  anoctamin-10 isoform X10

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      43381160..43707182 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054347048.1 → XP_054203023.1  anoctamin-10 isoform X6

    2. XM_054347044.1 → XP_054203019.1  anoctamin-10 isoform X1

    3. XM_054347049.1 → XP_054203024.1  anoctamin-10 isoform X6

    4. XM_054347052.1 → XP_054203027.1  anoctamin-10 isoform X9

    5. XM_054347045.1 → XP_054203020.1  anoctamin-10 isoform X3

    6. XM_054347050.1 → XP_054203025.1  anoctamin-10 isoform X7

    7. XM_054347046.1 → XP_054203021.1  anoctamin-10 isoform X4

    8. XM_054347054.1 → XP_054203029.1  anoctamin-10 isoform X11

    9. XM_054347055.1 → XP_054203030.1  anoctamin-10 isoform X12

    10. XM_054347047.1 → XP_054203022.1  anoctamin-10 isoform X5

    11. XM_054347051.1 → XP_054203026.1  anoctamin-10 isoform X8

    12. XM_054347053.1 → XP_054203028.1  anoctamin-10 isoform X10

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9NW15.2 GenPept UniProtKB/Swiss-Prot:Q9NW15

    Gene LinkOut

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

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