Free for academic non-profit institutions. Other users need a Commercial license

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
  • Anoctamin-6 3
  • 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 Peptic Ulcer Perforation. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Innate Immune System. 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 CIViC summary , 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

Enhancers for ANO6 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12G045258 1.5 Ensembl ENCODE dbSUPER 12.1 +43.9 43865 2.6 FOXA2 ARID4B FEZF1 DMAP1 YY1 ZNF121 GATA2 SP5 MIER2 PPARG ANO6 PLEKHA8P1 ENSG00000278351 GC12P045286
GH12G045191 1.4 Ensembl ENCODE dbSUPER 12.1 -23.7 -23651 1.5 ELF3 FOXA2 ATF1 BRCA1 GATA4 GATA2 ZNF366 FOS CREM MIXL1 ANO6 PLEKHA8P1 LOC100419293 GC12M045105
GH12G045356 0.9 ENCODE dbSUPER 17 +141.7 141681 1.8 MAFG RARA NR2F2 ZNF316 MAFF NR2F6 HNF4A MAFK EMSY ANO6 PLEKHA8P1 GC12P045397 GC12P045311
GH12G045298 1.3 Ensembl ENCODE dbSUPER 11 +83.3 83295 1.6 BCOR HDGF PKNOX1 TAL1 ETV1 RAD21 FOSL1 TCF12 CTBP1 GATA3 ANO6 PLEKHA8P1 GC12P045286 GC12P045311
GH12G045289 1.2 Ensembl ENCODE dbSUPER 11.1 +74.2 74211 1.1 SIX4 PKNOX1 MAX SIN3A RAD21 CTBP1 GATA3 FOS RCOR1 ZNF687 PLEKHA8P1 ANO6 GC12P045286 GC12P045311
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ANO6 on UCSC Golden Path with GeneCards custom track

Promoters for ANO6 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000051115 513 3401 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2

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

Post-translational modifications for ANO6 Gene

  • Ubiquitination at posLast=876876 and posLast=888888
  • Glycosylation at Asn329, posLast=361361, posLast=493493, Asn777, posLast=790790, and posLast=802802
  • Modification sites at PhosphoSitePlus

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

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:0005227 calcium activated cation channel activity ISS --
GO:0005229 intracellular calcium activated chloride channel activity TAS --
GO:0005244 voltage-gated ion channel activity ISS --
GO:0005247 voltage-gated chloride channel activity IMP 22006324
GO:0005254 chloride channel activity IEA --
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

CRISPR Products

Inhibitory RNA 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ANO6 gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 5
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for ANO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IDA 22075693
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0009986 cell surface IDA 19581412
GO:0016020 membrane IEA,IDA 19946888
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

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:0006810 transport IEA --
GO:0006811 ion transport IEA --
GO:0006812 cation transport IDA 22946059
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:

CRISPR Products

Inhibitory RNA Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for ANO6 Gene



Protein tissue co-expression partners for ANO6 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ANO6 Gene:

ANO6

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.

Evidence on tissue expression from TISSUES for ANO6 Gene

  • Liver(4.4)
  • Blood(2.7)
  • Nervous system(2.5)
  • Muscle(2.1)
  • Heart(2)
  • Kidney(2)
  • Lung(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ANO6 Gene

Germ Layers:
  • mesoderm
Systems:
  • cardiovascular
Organs:
General:
  • blood
  • blood vessel
  • coagulation system
genes like me logo Genes that share expression patterns with ANO6: view

Primer 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 34 35
  • 99.71 (n)
dog
(Canis familiaris)
Mammalia ANO6 34 35
  • 90.22 (n)
cow
(Bos Taurus)
Mammalia ANO6 34 35
  • 89.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 84 (a)
OneToMany
-- 35
  • 83 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ano6 34 16 35
  • 83.26 (n)
rat
(Rattus norvegicus)
Mammalia Ano6 34
  • 81.52 (n)
chicken
(Gallus gallus)
Aves ANO6 34 35
  • 76.14 (n)
lizard
(Anolis carolinensis)
Reptilia ANO6 35
  • 76 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ano6 34
  • 71.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9400 34
zebrafish
(Danio rerio)
Actinopterygii LOC100535437 34
  • 65.1 (n)
ano6 35
  • 61 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG6938 35
  • 29 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToMany
Species where no ortholog for ANO6 was found in the sources mined by GeneCards:
  • 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
rs142960268 Likely benign 45,388,269(+) AGCAC(A/G)ATGTA reference, missense
rs530970448 Likely benign 45,409,396(+) GTTTC(G/T)GGATC intron-variant, reference, synonymous-codon
rs566427379 Likely benign 45,402,032(+) TCCTA(C/G)TATAG intron-variant
rs117316516 Benign 45,403,426(+) TTCTT(C/T)TTAAC intron-variant
rs140330230 Benign 45,302,107(+) TATTC(C/T)TTTAT intron-variant

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

Variant ID Type Subtype PubMed ID
esv3629383 CNV loss 21293372
esv3629384 CNV gain 21293372
nsv1051285 CNV loss 25217958
nsv1147158 CNV duplication 26484159
nsv472999 CNV novel sequence insertion 20440878
nsv689 CNV insertion 18451855
nsv690 CNV deletion 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

Human Gene Mutation Database (HGMD)
ANO6
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ANO6

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

Disorders for ANO6 Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
scott syndrome
  • bdplt7
peptic ulcer perforation
  • acute peptic ulcer with perforation
vertebrobasilar insufficiency
  • vertebro-basilar insufficiency
sex cord-gonadal stromal tumor
  • malignant testicular sex cord-stromal tumor
germ cell and embryonal cancer
  • germ cell and embryonal neoplasm
- 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 22 64
  2. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N. … Galietta L.J. (Physiol. Rev. 2014) 2 3 64
  3. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. (PMID: 21984732) Scudieri P. … Galietta L.J. (Exp. Physiol. 2012) 3 4 64
  4. ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins. (PMID: 22075693) Duran C. … Hartzell H.C. (Am. J. Physiol. 2012) 3 4 64
  5. A genome-wide association study in Han Chinese identifies new susceptibility loci for ankylosing spondylitis. (PMID: 22138694) Lin Z. … Gu J. (Nat. Genet. 2012) 3 46 64

Products for ANO6 Gene

Sources for ANO6 Gene

Content
Loading form....