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ANO6 anoctamin 6 [ Homo sapiens (human) ]

Gene ID: 196527, updated on 26-Oct-2021

Summary

Official Symbol
ANO6provided by HGNC
Official Full Name
anoctamin 6provided by HGNC
Primary source
HGNC:HGNC:25240
See related
Ensembl:ENSG00000177119 MIM:608663
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

See ANO6 in Genome Data Viewer
Location:
12q12
Exon count:
23
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 12 NC_000012.12 (45216033..45440404)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (45609878..45834187)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 361 Neighboring gene pleckstrin homology domain containing A8 pseudogene 1 Neighboring gene carbonyl reductase 1 pseudogene Neighboring gene uncharacterized LOC105369743 Neighboring gene mesoderm development LRP chaperone pseudogene Neighboring gene uncharacterized LOC105369744

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
GeneReviews: Not available
SCOTT SYNDROME
MedGen: C0796149 OMIM: 262890 GeneReviews: Not available
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Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC104751

Gene Ontology Provided by GOA

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
PubMed 
involved_in calcium activated phosphatidylserine scrambling IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in calcium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in cation transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in chloride transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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 dendritic cell chemotaxis IEA
Inferred from Electronic Annotation
more info
 
involved_in induction by virus of host cell-cell fusion IDA
Inferred from Direct Assay
more info
PubMed 
involved_in 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 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 
involved_in transmembrane transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 

General protein information

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_001025356.3NP_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
    Q4KMQ2
    UniProtKB/TrEMBL
    B3KX12
    Related
    ENSP00000320087.8, ENST00000320560.13
    Conserved Domains (2) summary
    pfam04547
    Location:287871
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:61284
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  2. NM_001142678.2NP_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/Swiss-Prot
    Q4KMQ2
    Related
    ENSP00000413137.2, ENST00000441606.2
    Conserved Domains (2) summary
    pfam04547
    Location:269853
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:43266
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  3. NM_001142679.2NP_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/Swiss-Prot
    Q4KMQ2
    UniProtKB/TrEMBL
    B3KX12
    Related
    ENSP00000391417.2, ENST00000425752.6
    Conserved Domains (2) summary
    pfam04547
    Location:287761
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:61284
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  4. NM_001204803.2NP_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/Swiss-Prot
    Q4KMQ2
    UniProtKB/TrEMBL
    B3KX12
    Related
    ENSP00000409126.3, ENST00000423947.7
    Conserved Domains (2) summary
    pfam04547
    Location:308892
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:82305
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p13 Primary Assembly

    Range
    45216033..45440404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268707.4XP_005268764.1  anoctamin-6 isoform X2

    Related
    ENSP00000506683.1, ENST00000681817.1
    Conserved Domains (2) summary
    pfam04547
    Location:254838
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:28251
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin
  2. XM_005268706.5XP_005268763.1  anoctamin-6 isoform X1

    Related
    ENSP00000506600.1, ENST00000679426.1
    Conserved Domains (2) summary
    pfam04547
    Location:276860
    Anoctamin; Calcium-activated chloride channel
    pfam16178
    Location:50273
    Anoct_dimer; Dimerization domain of Ca+-activated chloride-channel, anoctamin

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.
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