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ANO6 anoctamin 6 [ Homo sapiens (human) ]

Gene ID: 196527, updated on 14-May-2016
Official Symbol
ANO6provided by HGNC
Official Full Name
anoctamin 6provided by HGNC
Primary source
HGNC:HGNC:25240
See related
Ensembl:ENSG00000177119 HPRD:18746; MIM:608663; Vega:OTTHUMG00000169564
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]
Orthologs
Location:
12q12
Exon count:
24
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 12 NC_000012.12 (45215987..45440404)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (45609770..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 candidate 2 pseudogene Neighboring gene uncharacterized LOC105369744

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Associated conditions

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

NHGRI GWAS Catalog

Description
A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis.
NHGRI GWA Catalog
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Clone Names

  • MGC104751

Gene Ontology Provided by GOA

Function Evidence Code Pubs
calcium activated cation channel activity IDA
Inferred from Direct Assay
more info
PubMed 
calcium activated cation channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
calcium activated cation channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
NOT intracellular calcium activated chloride channel activity IDA
Inferred from Direct Assay
more info
PubMed 
intracellular calcium activated chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
intracellular calcium activated chloride channel activity TAS
Traceable Author Statement
more info
 
phospholipid scramblase activity IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein homodimerization activity IEA
Inferred from Electronic Annotation
more info
 
voltage-gated chloride channel activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
voltage-gated ion channel activity ISS
Inferred from Sequence or Structural Similarity
more info
 
Process Evidence Code Pubs
activation of blood coagulation via clotting cascade IMP
Inferred from Mutant Phenotype
more info
PubMed 
bleb assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
blood coagulation ISS
Inferred from Sequence or Structural Similarity
more info
 
bone mineralization involved in bone maturation IEA
Inferred from Electronic Annotation
more info
 
calcium activated galactosylceramide scrambling IEA
Inferred from Electronic Annotation
more info
 
calcium activated phosphatidylcholine scrambling IEA
Inferred from Electronic Annotation
more info
 
calcium activated phosphatidylserine scrambling IEA
Inferred from Electronic Annotation
more info
 
calcium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
cation transport IDA
Inferred from Direct Assay
more info
PubMed 
chloride transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
chloride transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
dendritic cell chemotaxis IEA
Inferred from Electronic Annotation
more info
 
ion transmembrane transport TAS
Traceable Author Statement
more info
 
lipid transport IEA
Inferred from Electronic Annotation
more info
 
negative regulation of cell volume IMP
Inferred from Mutant Phenotype
more info
PubMed 
phosphatidylserine exposure on blood platelet IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid scrambling IMP
Inferred from Mutant Phenotype
more info
PubMed 
phospholipid scrambling ISS
Inferred from Sequence or Structural Similarity
more info
 
pore complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of apoptotic process ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of bone mineralization IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of endothelial cell apoptotic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of ion transmembrane transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of monocyte chemotaxis IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of phagocytosis, engulfment ISS
Inferred from Sequence or Structural Similarity
more info
 
positive regulation of potassium ion export ISS
Inferred from Sequence or Structural Similarity
more info
 
purinergic nucleotide receptor signaling pathway IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of anion transmembrane transport IEA
Inferred from Electronic Annotation
more info
 
sodium ion transmembrane transport IGI
Inferred from Genetic Interaction
more info
PubMed 
Component Evidence Code Pubs
cell surface IDA
Inferred from Direct Assay
more info
PubMed 
chloride channel complex IDA
Inferred from Direct Assay
more info
PubMed 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
intracellular IDA
Inferred from Direct Assay
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
anoctamin-6
Names
SCAN channel
small-conductance calcium-activated nonselective cation channel
transmembrane protein 16F

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
    5001..229418
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001025356.2NP_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, BC063576, BC098410
    Consensus CDS
    CCDS31782.1
    UniProtKB/Swiss-Prot
    Q4KMQ2
    UniProtKB/TrEMBL
    B3KX12
    Related
    ENSP00000320087, OTTHUMP00000241551, ENST00000320560, OTTHUMT00000404822
    Conserved Domains (1) summary
    pfam04547
    Location:287872
    Anoctamin; Calcium-activated chloride channel
  2. NM_001142678.1NP_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, OTTHUMP00000241552, ENST00000441606, OTTHUMT00000404823
    Conserved Domains (1) summary
    pfam04547
    Location:269854
    Anoctamin; Calcium-activated chloride channel
  3. NM_001142679.1NP_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)
    AK126409, AK310641, BC098410
    Consensus CDS
    CCDS44865.1
    UniProtKB/Swiss-Prot
    Q4KMQ2
    UniProtKB/TrEMBL
    B3KX12
    Related
    ENSP00000391417, OTTHUMP00000241548, ENST00000425752, OTTHUMT00000404819
    Conserved Domains (1) summary
    pfam04547
    Location:287786
    Anoctamin; Calcium-activated chloride channel
  4. NM_001204803.1NP_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, BC063576, BC098410, BC136445
    Consensus CDS
    CCDS55819.1
    UniProtKB/Swiss-Prot
    Q4KMQ2
    UniProtKB/TrEMBL
    B3KX12
    Related
    ENSP00000409126, OTTHUMP00000241549, ENST00000423947, OTTHUMT00000404820
    Conserved Domains (1) summary
    pfam04547
    Location:308893
    Anoctamin; Calcium-activated chloride channel

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

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

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p2 Primary Assembly

    Range
    45215987..45440404
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005268707.2XP_005268764.1  

    Conserved Domains (1) summary
    pfam04547
    Location:254839
    Anoctamin; Calcium-activated chloride channel
  2. XM_011538024.1XP_011536326.1  

    Conserved Domains (1) summary
    pfam04547
    Location:308807
    Anoctamin; Calcium-activated chloride channel
  3. XM_005268706.3XP_005268763.1  

    Conserved Domains (1) summary
    pfam04547
    Location:276861
    Anoctamin; Calcium-activated chloride channel

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    45574740..45799189
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

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.