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 syst... See more...

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
  • Anoctamin-6 3 4
  • TMEM16F 3 4
  • DKFZp313M0720 2
  • BDPLT7 3
  • SCTS 3
  • ANO6 5

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 Spinocerebellar Ataxia, Autosomal Recessive 10. Among its related pathways are Innate Immune System and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (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 Summary 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 , Rfam classification and piRNA Summary for ANO6 Gene

Genomics for ANO6 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ANO6 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J045214 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 600.7 +1.9 1909 7.4 ARHGAP35 CEBPG GATAD2A CTCF PRDM10 ZNF629 TFE3 ZNF512 LEF1 IKZF1 ANO6 PLEKHA8P1 lnc-DBX2-4 ARID2 ENSG00000273015 KNOP1P2 ENSG00000278351
GH12J045356 Enhancer 0.9 Ensembl ENCODE dbSUPER 17 +141.5 141506 2.2 ZNF316 MAFF MAFK MAFG NR2F2 RCOR1 HNF4A RXRA RARA NR2F6 ANO6 PLEKHA8P1 piR-33432-116 MN309174-112 ARID2
GH12J045189 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.3 -24.7 -24686 4.6 GATAD2A SOX13 JUND FOXA1 PKNOX1 DPF2 SOX6 GATAD2B CEBPA TCF7 PLEKHA8P1 ANO6 DBX2 piR-38580-060 MN309551 lnc-DBX2-4
GH12J045258 Enhancer 1.1 ENCODE dbSUPER 12.1 +43.9 43864 2.6 CEBPG HNRNPL GATAD2A SOX13 NFKBIZ RCOR2 ZNF7 FOXA1 RXRB IRF2 PLEKHA8P1 ANO6 ENSG00000278351 MN309174-112 ARID2
GH12J045296 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.1 +82.2 82214 4.4 PRDM10 ZNF629 IKZF1 JUND FOXA1 PRDM1 ZNF501 DPF2 SOX6 TCF12 ANO6 PLEKHA8P1 MN309174-112 ENSG00000278351 ARID2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ANO6 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ANO6

Top Transcription factor binding sites by QIAGEN in the ANO6 gene promoter:
  • Lhx3a
  • LHX3b
  • NF-AT
  • NF-AT1
  • NF-AT2
  • NF-AT3

Genomic Locations for ANO6 Gene

Genomic Locations for ANO6 Gene
chr12:45,215,987-45,440,404
(GRCh38/hg38)
Size:
224,418 bases
Orientation:
Plus strand
chr12:45,609,770-45,834,187
(GRCh37/hg19)
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:
    • Homodimer.
    Miscellaneous:
    • The term 'anoctamin' was coined because these channels are anion selective and are predicted to 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

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

No data available for DME Specific Peptides for ANO6 Gene

Domains & Families for ANO6 Gene

Gene Families for ANO6 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for ANO6 Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for ANO6 Gene

GenScript: Design optimal peptide antigens:
  • Transmembrane protein 16F (ANO6_HUMAN)

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 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-L-serine(in) = a 1,2-diacyl-sn-glycero-3-phospho-L-serine(out); Xref=Rhea:RHEA:38663, ChEBI:CHEBI:57262; Evidence={ECO:0000250|UniProtKB:Q6P9J9};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine(out) = a beta-D-galactosyl-(1<->1')-N-acylsphing-4-enine(in); Xref=Rhea:RHEA:38899, ChEBI:CHEBI:18390; Evidence={ECO:0000250|UniProtKB:Q6P9J9};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phosphocholine(in) = a 1,2-diacyl-sn-glycero-3-phosphocholine(out); Xref=Rhea:RHEA:38571, ChEBI:CHEBI:57643; Evidence={ECO:0000250|UniProtKB:Q6P9J9};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Exhibits synergistic gating by Ca(2+) and voltage (By similarity). Inhibited by some non-specific cation channel blockers such as: ruthenium red, 2-aminoethyl diphenylborinate (2APB), gadolinium and cadmium ions (By similarity).

Phenotypes From GWAS Catalog for ANO6 Gene

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:0005254 chloride channel activity IEA,IBA 21873635
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:
  • Ano6 Ano6<tm1Avor>
  • Ano6 Ano6<tm1.2Lyj>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANO6

Clone 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 4
cytosol 4
endoplasmic reticulum 2
cytoskeleton 1
mitochondrion 1
peroxisome 1
nucleus 1
endosome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ANO6 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005623 cell IEA --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IEA --
GO:0009986 cell surface HDA 19581412
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:0006811 ion transport IEA --
GO:0006812 cation transport IDA 22946059
GO:0006821 chloride transport IMP 22006324
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

(2) Drugs for ANO6 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Chloride ion Experimental Pharma 0
Calcium Nutra 6556
genes like me logo Genes that share compounds with ANO6: view

Transcripts for ANO6 Gene

mRNA/cDNA for ANO6 Gene

5 REFSEQ mRNAs :
13 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ANO6

Clone 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

Expression for ANO6 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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, MaxQB, and MOPED for ANO6 Gene



Protein tissue co-expression partners for ANO6 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.5)
  • Blood(2.9)
  • Nervous system(2.8)
  • Lung(2.6)
  • Muscle(2.6)
  • Kidney(2.6)
  • Heart(2.3)
  • Intestine(2.3)
  • Spleen(2.2)

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

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

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 30 31
  • 99.71 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia ANO6 30 31
  • 90.22 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia ANO6 30 31
  • 89.15 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 84 (a)
OneToMany
-- 31
  • 83 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Ano6 30 17 31
  • 83.26 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ano6 30
  • 81.52 (n)
Chicken
(Gallus gallus)
Aves ANO6 30 31
  • 76.14 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ANO6 31
  • 76 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ano6 30
  • 71.16 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.9400 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100535437 30
  • 65.1 (n)
ano6 31
  • 61 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta CG6938 31
  • 29 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 42 (a)
OneToMany
Species where no ortholog for ANO6 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for ANO6: view image

Paralogs for ANO6 Gene

Paralogs for ANO6 Gene

(7) SIMAP similar genes for ANO6 Gene using alignment to 2 proteins:

  • ANO6_HUMAN
  • F8VX71_HUMAN
genes like me logo Genes that share paralogs with ANO6: view

Variants for ANO6 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ANO6 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
729448 Likely Benign: not provided 45,347,036(+) A/G SYNONYMOUS_VARIANT
736634 Benign: not provided 45,331,372(+) G/A SYNONYMOUS_VARIANT
788578 Benign: not provided 45,416,870(+) T/C MISSENSE_VARIANT
rs117316516 Benign: not specified 45,403,426(+) T/C INTRON_VARIANT
rs140330230 Benign: not specified 45,302,107(+) C/T INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ANO6 Gene

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)

Additional Variant Information for ANO6 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ANO6 Gene

MalaCards: The human disease database

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

- 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.

Additional Disease Information for ANO6

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
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 (International journal of oncology 2004) 2 3 4 23
  2. Structure and function of TMEM16 proteins (anoctamins). (PMID: 24692353) Pedemonte N … Galietta LJ (Physiological reviews 2014) 2 3
  3. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. (PMID: 21984732) Scudieri P … Galietta LJ (Experimental physiology 2012) 3 4
  4. ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins. (PMID: 22075693) Duran C … Hartzell HC (American journal of physiology. Cell physiology 2012) 3 4
  5. Anoctamins are a family of Ca2+-activated Cl- channels. (PMID: 22946059) Tian Y … Kunzelmann K (Journal of cell science 2012) 3 4

Products for ANO6 Gene

  • Signalway ELISA kits for ANO6

Sources for ANO6 Gene