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Aliases for ANO6 Gene

Aliases for ANO6 Gene

  • Anoctamin 6 2 3
  • Transmembrane Protein 16F 2 3 4
  • TMEM16F 3 4 6
  • Small-Conductance Calcium-Activated Nonselective Cation Channel 3 4
  • SCAN Channel 3 4
  • BDPLT7 3 6
  • SCTS 3 6
  • Anoctamin-6 3

External Ids for ANO6 Gene

Previous Symbols for ANO6 Gene

  • TMEM16F

Summaries for ANO6 Gene

Entrez Gene Summary for ANO6 Gene

  • 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]

GeneCards Summary for ANO6 Gene

ANO6 (Anoctamin 6) is a Protein Coding gene. Diseases associated with ANO6 include scott syndrome. Among its related pathways are Ion channel transport and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. GO annotations related to this gene include voltage-gated ion channel activity and calcium activated cation channel activity. An important paralog of this gene is ANO5.

UniProtKB/Swiss-Prot for ANO6 Gene

  • Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes.

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ANO6 Gene

Genomics for ANO6 Gene

Genomic Location for ANO6 Gene

Start:
45,215,987 bp from pter
End:
45,440,404 bp from pter
Size:
224,418 bases
Orientation:
Plus strand

Genomic View for ANO6 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ANO6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ANO6 Gene

Regulatory Elements for ANO6 Gene

Proteins for ANO6 Gene

  • Protein details for ANO6 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q4KMQ2-ANO6_HUMAN
    Recommended name:
    Anoctamin-6
    Protein Accession:
    Q4KMQ2
    Secondary Accessions:
    • A6NNM6
    • B9EGG0
    • E7ENK4
    • E9PB30
    • E9PCT2
    • Q8N3Q2

    Protein attributes for ANO6 Gene

    Size:
    910 amino acids
    Molecular mass:
    106165 Da
    Quaternary structure:
    No Data Available
    Miscellaneous:
    • The term anoctamin was coined because these channels are anion selective and have eight (OCT) transmembrane segments. There is some dissatisfaction in the field with the Ano nomenclature because it is not certain that all the members of this family are anion channels or have the 8-transmembrane topology

    Alternative splice isoforms for ANO6 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ANO6 Gene

Proteomics data for ANO6 Gene at MOPED

Post-translational modifications for ANO6 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys876 and Lys888
  • Glycosylation at Asn329, Asn361, Asn493, Asn777, Asn790, and Asn802

Other Protein References for ANO6 Gene

No data available for DME Specific Peptides for ANO6 Gene

Domains for ANO6 Gene

Gene Families for ANO6 Gene

HGNC:
  • ANO :Ion channels / Chloride channels : Calcium activated : Anoctamins

Protein Domains for ANO6 Gene

InterPro:
ProtoNet:

UniProtKB/Swiss-Prot:

ANO6_HUMAN
Family:
  • Belongs to the anoctamin family.:
    • Q4KMQ2
genes like me logo Genes that share domains with ANO6: view

Function for ANO6 Gene

Molecular function for ANO6 Gene

UniProtKB/Swiss-Prot EnzymeRegulation: Exhibits synergistic gating by Ca(2+) and voltage. Inhibited by some non-specific cation channel blockers such as: ruthenium red, 2-aminoethyl diphenylborinate (2APB), gadolinium and cadmium ions (By similarity).
UniProtKB/Swiss-Prot Function: Small-conductance calcium-activated nonselective cation (SCAN) channel which acts as a regulator of phospholipid scrambling in platelets and osteoblasts. Phospholipid scrambling results in surface exposure of phosphatidylserine which in platelets is essential to trigger the clotting system whereas in osteoblasts is essential for the deposition of hydroxyapatite during bone mineralization. Has calcium-dependent phospholipid scramblase activity; scrambles phosphatidylserine, phosphatidylcholine and galactosylceramide (By similarity). Can generate outwardly rectifying chloride channel currents in airway epithelial cells and Jurkat T lymphocytes.

Gene Ontology (GO) - Molecular Function for ANO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005227 calcium activated cation channel activity ISS --
GO:0005229 intracellular calcium activated chloride channel activity IMP 22946059
GO:0005244 voltage-gated ion channel activity ISS --
GO:0005247 voltage-gated chloride channel activity IMP 22006324
GO:0017128 phospholipid scramblase activity IEA --
genes like me logo Genes that share ontologies with ANO6: view
genes like me logo Genes that share phenotypes with ANO6: view

Animal Models for ANO6 Gene

MGI Knock Outs for ANO6:

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ANO6 Gene

Localization for ANO6 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ANO6 Gene

Cell membrane; Multi-pass membrane protein. Note=Shows an intracellular localization according to PubMed:22075693.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ANO6 Gene COMPARTMENTS Subcellular localization image for ANO6 gene
Compartment Confidence
plasma membrane 5
cytosol 1
nucleus 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for ANO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 22075693
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 19581412
GO:0016020 membrane IDA 19946888
GO:0034707 chloride channel complex IDA 22006324
genes like me logo Genes that share ontologies with ANO6: view

Pathways for ANO6 Gene

genes like me logo Genes that share pathways with ANO6: view

Pathways by source for ANO6 Gene

Interacting Proteins for ANO6 Gene

Gene Ontology (GO) - Biological Process for ANO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002407 dendritic cell chemotaxis IEA --
GO:0002543 activation of blood coagulation via clotting cascade IMP 21107324
GO:0006812 cation transport IDA 22946059
GO:0006821 chloride transport IMP 22006324
GO:0006869 lipid transport IEA --
genes like me logo Genes that share ontologies with ANO6: view

Compounds for ANO6 Gene

(2) HMDB Compounds for ANO6 Gene

Compound Synonyms Cas Number PubMed IDs
Calcium
  • Ca
7440-70-2
Chlorine
  • Cl2
16887-00-6
genes like me logo Genes that share compounds with ANO6: view

Transcripts for ANO6 Gene

Unigene Clusters for ANO6 Gene

Anoctamin 6:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ANO6 Gene

No ASD Table

Relevant External Links for ANO6 Gene

GeneLoc Exon Structure for
ANO6
ECgene alternative splicing isoforms for
ANO6

Expression for ANO6 Gene

mRNA expression in normal human tissues for ANO6 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ANO6 Gene

SOURCE GeneReport for Unigene cluster for ANO6 Gene Hs.505339

mRNA Expression by UniProt/SwissProt for ANO6 Gene

Q4KMQ2-ANO6_HUMAN
Tissue specificity: Expressed in embryonic stem cell, fetal liver, retina, chronic myologenous leukemia and intestinal cancer.
genes like me logo Genes that share expressions with ANO6: view

Orthologs for ANO6 Gene

This gene was present in the common ancestor of animals.

Orthologs for ANO6 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ANO6 36
  • 99.71 (n)
  • 99.79 (a)
ANO6 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ANO6 36
  • 89.15 (n)
  • 89.11 (a)
ANO6 37
  • 90 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ANO6 36
  • 90.22 (n)
  • 89.64 (a)
ANO6 37
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ano6 36
  • 83.26 (n)
  • 89.89 (a)
Ano6 16
Ano6 37
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 83 (a)
OneToMany
-- 37
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ano6 36
  • 81.52 (n)
  • 88.7 (a)
chicken
(Gallus gallus)
Aves ANO6 36
  • 76.14 (n)
  • 79.32 (a)
ANO6 37
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANO6 37
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9400 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ano6 36
  • 71.16 (n)
  • 74.6 (a)
zebrafish
(Danio rerio)
Actinopterygii ano6 37
  • 61 (a)
OneToOne
LOC100535437 36
  • 65.1 (n)
  • 65.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6938 37
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 42 (a)
OneToMany
Species with no ortholog for ANO6:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ANO6 Gene

ENSEMBL:
Gene Tree for ANO6 (if available)
TreeFam:
Gene Tree for ANO6 (if available)

Paralogs for ANO6 Gene

Paralogs for ANO6 Gene

Selected SIMAP similar genes for ANO6 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with ANO6: view

Variants for ANO6 Gene

Sequence variations from dbSNP and Humsavar for ANO6 Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type MAF
rs728590 -- 45,300,565(-) CCTAA(C/T)TTGGA intron-variant
rs759849 -- 45,309,578(-) CAGGG(A/G)AAAAA intron-variant
rs965125 -- 45,328,439(-) ACTAG(A/G)TCAAA intron-variant
rs1004598 -- 45,301,411(+) ggcaa(C/T)atagg intron-variant
rs1015625 -- 45,271,641(+) GAAAA(A/G)TATTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ANO6 Gene

Variant ID Type Subtype PubMed ID
nsv689 CNV Insertion 18451855
nsv690 CNV Loss 18451855
nsv826357 CNV Loss 20364138

Relevant External Links for ANO6 Gene

HapMap Linkage Disequilibrium report
ANO6
Human Gene Mutation Database (HGMD)
ANO6

Disorders for ANO6 Gene

(1) OMIM Diseases for ANO6 Gene (608663)

UniProtKB/Swiss-Prot

ANO6_HUMAN
  • Scott syndrome (SCTS) [MIM:262890]: A mild bleeding disorder due to impaired surface exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following activation with Ca(2+)-elevating agents. {ECO:0000269 PubMed:21107324}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) MalaCards Diseases for ANO6 Gene

Search for ANO6 Gene in MalaCards »

Relevant External Links for ANO6

Genetic Association Database (GAD)
ANO6
Human Genome Epidemiology (HuGE) Navigator
ANO6
genes like me logo Genes that share disorders with ANO6: view

Publications for ANO6 Gene

  1. Identification and characterization of TMEM16E and TMEM16F genes in silico. (PMID: 15067359) Katoh M. … Katoh M. (Int. J. Oncol. 2004) 2 3 4 23
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 49
  4. Calcium-dependent phospholipid scrambling by TMEM16F. (PMID: 21107324) Suzuki J. … Nagata S. (Nature 2010) 3 4
  5. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. (PMID: 21984732) Scudieri P. … Galietta L.J. (Exp. Physiol. 2012) 3 4

Products for ANO6 Gene

Sources for ANO6 Gene

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