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ANO6 anoctamin 6 [ Homo sapiens (human) ]

Gene ID: 196527, updated on 11-Apr-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
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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_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (45216095..45440404)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (45174737..45399096)
105.20220307 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
  • 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. TMEM16F and dynamins control expansive plasma membrane reservoirs. Deisl C, et al. Nat Commun, 2021 Aug 17. PMID 34404808, 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 (82) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis.
    Title: Deciphering and disrupting PIEZO1-TMEM16F interplay in hereditary xerocytosis.
  2. 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.
  3. Functional coupling between TRPV4 channel and TMEM16F modulates human trophoblast fusion.
    Title: Functional coupling between TRPV4 channel and TMEM16F modulates human trophoblast fusion.
  4. 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.
  5. 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.
  6. Molecular underpinning of intracellular pH regulation on TMEM16F.
    Title: Molecular underpinning of intracellular pH regulation on TMEM16F.
  7. TMEM16F and dynamins control expansive plasma membrane reservoirs.
    Title: TMEM16F and dynamins control expansive plasma membrane reservoirs.
  8. Ca(2+) Sensitivity of Anoctamin 6/TMEM16F Is Regulated by the Putative Ca(2+)-Binding Reservoir at the N-Terminal Domain.
    Title: Ca(2+) Sensitivity of Anoctamin 6/TMEM16F Is Regulated by the Putative Ca(2+)-Binding Reservoir at the N-Terminal Domain.
  9. Hyperuricemia enhances procoagulant activity of vascular endothelial cells through TMEM16F regulated phosphatidylserine exposure and microparticle release.
    Title: Hyperuricemia enhances procoagulant activity of vascular endothelial cells through TMEM16F regulated phosphatidylserine exposure and microparticle release.
  10. Lysophosphatidic acid-induced pro-thrombotic phosphatidylserine exposure and ionophore-induced microvesiculation is mediated by the scramblase TMEM16F in erythrocytes.
    Title: Lysophosphatidic acid-induced pro-thrombotic phosphatidylserine exposure and ionophore-induced microvesiculation is mediated by the scramblase TMEM16F in erythrocytes.
Submit: New GeneRIF Correction See all GeneRIFs (35)

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
  
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 intracellularly calcium-gated chloride channel activity TAS
Traceable Author Statement
more info
  
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 transport IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in monoatomic cation transport IDA
Inferred from Direct Assay
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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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_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_2023_10

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

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