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    ANO6 anoctamin 6 [ Homo sapiens (human) ]

    Gene ID: 196527, updated on 3-Nov-2024

    Summary

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    Official Symbol
    ANO6provided by HGNC
    Official Full Name
    anoctamin 6provided by HGNC
    Primary source
    HGNC:HGNC:25240
    See related
    Ensembl:ENSG00000177119 MIM:608663; AllianceGenome:HGNC:25240
    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
    SCTS; BDPLT7; TMEM16F
    Summary
    This gene encodes a multi-pass transmembrane protein that belongs to the anoctamin family. This protein is an essential component for the calcium-dependent exposure of phosphatidylserine on the cell surface. The scrambling of phospholipid occurs in various biological systems, such as when blood platelets are activated, they expose phosphatidylserine to trigger the clotting system. Mutations in this gene are associated with Scott syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2011]
    Expression
    Ubiquitous expression in fat (RPKM 53.4), ovary (RPKM 24.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See ANO6 in Genome Data Viewer
    Location:
    12q12
    Exon count:
    23
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (45216095..45440404)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (45174737..45399096)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (45609878..45834187)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6225 Neighboring gene RNA, 5S ribosomal pseudogene 361 Neighboring gene pleckstrin homology domain containing A8 pseudogene 1 Neighboring gene carbonyl reductase 1 pseudogene Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6226 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 4373 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 6227 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:45651043-45651543 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:45764945-45765482 Neighboring gene uncharacterized LOC105369743 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:45826556-45827464 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr12:45827465-45828371 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr12:45862851-45863396 Neighboring gene NANOG hESC enhancer GRCh37_chr12:45867312-45867827 Neighboring gene MESD pseudogene 1 Neighboring gene Sharpr-MPRA regulatory region 5471 Neighboring gene uncharacterized LOC124903092

    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. Regulatory Roles of Anoctamin-6 in Human Trabecular Meshwork Cells. Banerjee J, et al. Invest Ophthalmol Vis Sci, 2017 Jan 1. PMID 28125837, Free PMC Article
    2. Hyperuricemia enhances procoagulant activity of vascular endothelial cells through TMEM16F regulated phosphatidylserine exposure and microparticle release. Yu H, et al. FASEB J, 2021 Sep. PMID 34390515
    3. Drugs that inhibit TMEM16 proteins block SARS-CoV-2 spike-induced syncytia. Braga L, et al. Nature, 2021 Jun. PMID 33827113, Free PMC Article
    4. Ca(2+) Sensitivity of Anoctamin 6/TMEM16F Is Regulated by the Putative Ca(2+)-Binding Reservoir at the N-Terminal Domain. Roh JW, et al. Mol Cells, 2021 Feb 28. PMID 33658434, Free PMC Article
    5. Molecular underpinning of intracellular pH regulation on TMEM16F. Liang P, et al. J Gen Physiol, 2021 Feb 1. PMID 33346788, Free PMC Article

    See all (95) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study.
      Title: Analysis of ANO6, HAPLN1, and EDIL3 Polymorphisms in Patients with Ankylosing Spondylitis in a Chinese Han Population: A Case-Control Study.
    2. Functional Interdependence of Anoctamins May Influence Conclusions from Overexpression Studies.
      Title: Functional Interdependence of Anoctamins May Influence Conclusions from Overexpression Studies.
    3. TMEM16F exacerbates tau pathology and mediates phosphatidylserine exposure in phospho-tau-burdened neurons.
      Title: TMEM16F exacerbates tau pathology and mediates phosphatidylserine exposure in phospho-tau-burdened neurons.
    4. Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis.
      Title: Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis.
    5. ANO6 is a reliable prognostic biomarker and correlates to macrophage polarization in breast cancer.
      Title: ANO6 is a reliable prognostic biomarker and correlates to macrophage polarization in breast cancer.
    6. Functional coupling between TRPV4 channel and TMEM16F modulates human trophoblast fusion.
      Title: Functional coupling between TRPV4 channel and TMEM16F modulates human trophoblast fusion.
    7. Supporting Cells of the Human Olfactory Epithelium Co-Express the Lipid Scramblase TMEM16F and ACE2 and May Cause Smell Loss by SARS-CoV-2 Spike-Induced Syncytia.
      Title: Supporting Cells of the Human Olfactory Epithelium Co-Express the Lipid Scramblase TMEM16F and ACE2 and May Cause Smell Loss by SARS-CoV-2 Spike-Induced Syncytia.
    8. TMEM16F mediates bystander TCR-CD3 membrane dissociation at the immunological synapse and potentiates T cell activation.
      Title: TMEM16F mediates bystander TCR-CD3 membrane dissociation at the immunological synapse and potentiates T cell activation.
    9. Molecular underpinning of intracellular pH regulation on TMEM16F.
      Title: Molecular underpinning of intracellular pH regulation on TMEM16F.
    10. TMEM16F and dynamins control expansive plasma membrane reservoirs.
      Title: TMEM16F and dynamins control expansive plasma membrane reservoirs.
    Submit: New GeneRIF Correction See all GeneRIFs (38)

    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
    SCOTT SYNDROME
    MedGen: C0796149 OMIM: 262890 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
    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

    • MGC104751

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables calcium-activated cation channel activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables calcium-activated cation channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables calcium-activated cation channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    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 IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables phospholipid scramblase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein dimerization activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables voltage-gated chloride channel activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    enables voltage-gated monoatomic ion channel activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in activation of blood coagulation via clotting cascade IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in bleb assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in blood coagulation ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in calcium activated phosphatidylcholine scrambling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium activated phosphatidylserine scrambling IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in calcium ion transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in chloride transmembrane transport IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in chloride transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    involved_in chloride transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in chloride transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in monoatomic ion transmembrane transport TAS
    Traceable Author Statement
    more info
    		  
    involved_in negative regulation of cell volume IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in phosphatidylserine exposure on blood platelet IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in plasma membrane phospholipid scrambling IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in plasma membrane phospholipid scrambling ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in pore complex assembly IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of apoptotic process ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of bone mineralization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of endothelial cell apoptotic process IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of monoatomic ion transmembrane transport IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of monocyte chemotaxis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in positive regulation of phagocytosis, engulfment ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in positive regulation of potassium ion export across plasma membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in purinergic nucleotide receptor signaling pathway IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in sodium ion transmembrane transport IGI
    Inferred from Genetic Interaction
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in cell surface HDA PubMed 
    part_of chloride channel complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in extracellular exosome HDA PubMed 
    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
    		  
    located_in specific granule membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in tertiary granule membrane TAS
    Traceable Author Statement
    more info
    		  

    General protein information

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    Preferred Names
    anoctamin-6
    Names
    SCAN channel
    small-conductance calcium-activated nonselective cation channel
    transmembrane protein 16F

    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_028220.1 RefSeqGene

      Range
      5109..229418
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_877

    mRNA and Protein(s)

    1. NM_001025356.3 → NP_001020527.2  anoctamin-6 isoform a

      See identical proteins and their annotated locations for NP_001020527.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the predominant transcript and encodes isoform a.
      Source sequence(s)
      AA332109, AK126409, AL833405, BC098410
      Consensus CDS
      CCDS31782.1
      UniProtKB/Swiss-Prot
      A6NNM6, B9EGG0, E7ENK4, E9PB30, E9PCT2, Q4KMQ2, Q8N3Q2
      UniProtKB/TrEMBL
      A0A7P0TAF4
      Related
      ENSP00000320087.8, ENST00000320560.13
      Conserved Domains (2) summary
      pfam04547
      Location:287 → 871
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:61 → 284
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    2. NM_001142678.2 → NP_001136150.1  anoctamin-6 isoform b

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon compared to variant 1, resulting in an isoform (b) with a shorter and distinct N-terminus compared to isoform a.
      Source sequence(s)
      AA332109, AL832340, BC063576, BC098410
      Consensus CDS
      CCDS44866.1
      UniProtKB/TrEMBL
      A0A7P0TAF4
      Related
      ENSP00000413137.2, ENST00000441606.2
      Conserved Domains (2) summary
      pfam04547
      Location:269 → 853
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:43 → 266
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    3. NM_001142679.2 → NP_001136151.1  anoctamin-6 isoform c

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) contains an alternate 3' terminal exon compared to variant 1, resulting in an isoform (c) with a longer and distinct C-terminus compared to isoform a. Variants 3 and 4 encode the same isoform.
      Source sequence(s)
      AK310641, BC098410
      Consensus CDS
      CCDS44865.1
      UniProtKB/TrEMBL
      B4DZA5
      Related
      ENSP00000391417.2, ENST00000425752.6
      Conserved Domains (2) summary
      pfam04547
      Location:287 → 761
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:61 → 284
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    4. NM_001204803.2 → NP_001191732.1  anoctamin-6 isoform d

      See identical proteins and their annotated locations for NP_001191732.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (5) contains an additional in-frame coding exon compared to variant 1, resulting in a longer isoform (d) with an internal protein segment not found in isoform a.
      Source sequence(s)
      AA332109, AK126409, BC098410, BC136445
      Consensus CDS
      CCDS55819.1
      UniProtKB/TrEMBL
      A0A7P0TAF4
      Related
      ENSP00000409126.3, ENST00000423947.7
      Conserved Domains (2) summary
      pfam04547
      Location:308 → 891
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:82 → 305
      Anoct_dimer; dimerization domain of Ca+-activated chloride-channel, anoctamin

    5. NM_001410973.1 → NP_001397902.1  anoctamin-6 isoform e

      Status: REVIEWED

      Source sequence(s)
      AC009248, AC009778, AC063924
      Consensus CDS
      CCDS91686.1
      UniProtKB/TrEMBL
      A0A7P0TBC5
      Related
      ENSP00000506600.1, ENST00000679426.1

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      45216095..45440404
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005268707.5 → XP_005268764.1  anoctamin-6 isoform X1

      UniProtKB/TrEMBL
      A0A7P0TAF4
      Related
      ENSP00000506683.1, ENST00000681817.1
      Conserved Domains (2) summary
      pfam04547
      Location:254 → 838
      Anoctamin; Calcium-activated chloride channel
      pfam16178
      Location:28 → 251
      Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      45174737..45399096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371389.1 → XP_054227364.1  anoctamin-6 isoform X1

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001142680.1: Suppressed sequence

      Description
      NM_001142680.1: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q4KMQ2.2 GenPept UniProtKB/Swiss-Prot:Q4KMQ2

    Gene LinkOut

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

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