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Aliases for ANO6 Gene

Aliases for ANO6 Gene

  • Anoctamin 6 2 3 5
  • Transmembrane Protein 16F 2 3 4
  • Small-Conductance Calcium-Activated Nonselective Cation Channel 3 4
  • SCAN Channel 3 4
  • TMEM16F 3 4
  • BDPLT7 3
  • SCTS 3

External Ids for ANO6 Gene

Previous HGNC Symbols for ANO6 Gene

  • TMEM16F

Previous GeneCards Identifiers for ANO6 Gene

  • GC12P043897
  • GC12P045609
  • GC12P042639

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 and bleeding disorder, platelet-type, 11. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. GO annotations related to this gene include protein homodimerization activity and voltage-gated chloride 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

Regulatory Elements for ANO6 Gene

Promoters for ANO6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ANO6 on UCSC Golden Path with GeneCards custom track

Genomic Location for ANO6 Gene

Chromosome:
12
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

Genes around ANO6 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ANO6 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ANO6 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

  • Ubiquitination at Lys 876 and Lys 888
  • Glycosylation at Asn 329, Asn 361, Asn 493, Asn 777, Asn 790, and Asn 802
  • Modification sites at PhosphoSitePlus

Antibody Products

No data available for DME Specific Peptides for ANO6 Gene

Domains & Families for ANO6 Gene

Gene Families for ANO6 Gene

Protein Domains for ANO6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANO6 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q4KMQ2

UniProtKB/Swiss-Prot:

ANO6_HUMAN :
  • Belongs to the anoctamin family.
Family:
  • Belongs to the anoctamin family.
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:0005229 intracellular calcium activated chloride channel activity IMP,TAS --
GO:0005244 voltage-gated ion channel activity ISS --
genes like me logo Genes that share ontologies with ANO6: view
genes like me logo Genes that share phenotypes with ANO6: view

Human Phenotype Ontology for ANO6 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ANO6 Gene

MGI Knock Outs for ANO6:

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
extracellular 5
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:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with ANO6: view

Pathways & Interactions 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

No data available for SIGNOR curated interactions for ANO6 Gene

Drugs & Compounds for ANO6 Gene

(1) Drugs for ANO6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
calcium Nutra 0

(1) Additional Compounds for ANO6 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Chloride ion
  • Bertholite
  • Chloor
  • Chlor
  • Chlore
  • Chloride
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

Protein differential expression in normal tissues from HIPED for ANO6 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (28.6) and Platelet (10.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ANO6: view

Protein tissue co-expression partners for ANO6 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for ANO6 Gene

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
  • 100 (a)
OneToOne
ANO6 35
  • 99.71 (n)
  • 99.79 (a)
cow
(Bos Taurus)
Mammalia ANO6 36
  • 90 (a)
OneToOne
ANO6 35
  • 89.15 (n)
  • 89.11 (a)
dog
(Canis familiaris)
Mammalia ANO6 35
  • 90.22 (n)
  • 89.64 (a)
ANO6 36
  • 88 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ano6 16
Ano6 35
  • 83.26 (n)
  • 89.89 (a)
Ano6 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 83 (a)
OneToMany
-- 36
  • 84 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ano6 35
  • 81.52 (n)
  • 88.7 (a)
chicken
(Gallus gallus)
Aves ANO6 35
  • 76.14 (n)
  • 79.32 (a)
ANO6 36
  • 77 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ANO6 36
  • 76 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia Xl.9400 35
tropical clawed frog
(Silurana tropicalis)
Amphibia ano6 35
  • 71.16 (n)
  • 74.6 (a)
zebrafish
(Danio rerio)
Actinopterygii ano6 36
  • 61 (a)
OneToOne
LOC100535437 35
  • 65.1 (n)
  • 65.75 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG6938 36
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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

(7) 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
rs2162321 - 45,348,064(-) TGGTG(C/T)GTGTA reference, missense
rs965125 -- 45,328,439(-) ACTAG(A/G)TCAAA intron-variant
rs1316280 -- 45,369,875(-) TTATC(C/T)TGCCA intron-variant
rs1399721 -- 45,273,027(+) ggaga(A/T)gttat intron-variant
rs1541712 -- 45,332,202(-) ACACA(C/T)ATATG 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

Variation tolerance for ANO6 Gene

Residual Variation Intolerance Score: 25.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.02; 68.52% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ANO6 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ANO6 Gene

Disorders for ANO6 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ANO6 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
scott syndrome
  • platelet factor x receptor deficiency
bleeding disorder, platelet-type, 11
  • bleeding disorder, platelet type 11
germ cell and embryonal cancer
  • germ cell and embryonal neoplasm
peptic ulcer perforation
  • acute peptic ulcer with perforation
vertebrobasilar insufficiency
  • vertebro-basilar insufficiency
- elite association - COSMIC cancer census association via MalaCards
Search ANO6 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ANO6

Genetic Association Database (GAD)
ANO6
Human Genome Epidemiology (HuGE) Navigator
ANO6
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ANO6
genes like me logo Genes that share disorders with ANO6: view

No data available for Genatlas for ANO6 Gene

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 67
  2. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N. … Galietta L.J. (Physiol. Rev. 2014) 2 3
  3. Anoctamin 6 mediates effects essential for innate immunity downstream of P2X7 receptors in macrophages. (PMID: 25651887) Ousingsawat J. … Kunzelmann K. (Nat Commun 2015) 3
  4. The BioPlex Network: A Systematic Exploration of the Human Interactome. (PMID: 26186194) Huttlin E.L. … Gygi S.P. (Cell 2015) 3
  5. Anoctamin-6 controls bone mineralization by activating the calcium transporter NCX1. (PMID: 25589784) Ousingsawat J. … Kunzelmann K. (J. Biol. Chem. 2015) 3

Products for ANO6 Gene

Sources for ANO6 Gene

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