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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ANO1 Gene

protein-coding   GIFtS: 61
GCID: GC11P069927

Anoctamin 1, Calcium Activated Chloride Channel

(Previous names: oral cancer overexpressed 2, transmembrane protein 16A)
(Previous symbols: ORAOV2, TMEM16A)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Anoctamin 1, Calcium Activated Chloride Channel1 2     DOG12 3
TMEM16A1 2 3 5     TAOS22 3
ORAOV21 2 3     anoctamin-12
Oral Cancer Overexpressed 21 2     Transmembrane Protein 16A (Eight Membrane-Spanning Domains)2
Transmembrane Protein 16A1 3     Oral Cancer Overexpressed Protein 23
Discovered On Gastrointestinal Stromal Tumors Protein 12 3     FLJ102615
Tumor-Amplified And Overexpressed Sequence 22 3     

External Ids:    HGNC: 216251   Entrez Gene: 551072   Ensembl: ENSG000001316207   OMIM: 6101085   UniProtKB: Q5XXA63   
ORGUL members:         
NONCODE14:n408884      

Export aliases for ANO1 gene to outside databases

Previous GC identifers: GC11P069604 GC11P069925 GC11P066184


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

GeneCards Summary for ANO1 Gene: 
ANO1 (anoctamin 1, calcium activated chloride channel) is a protein-coding gene, and is affiliated with the lncRNA class. Diseases associated with ANO1 include small intestinal sarcoma, and sarcocystosis, and among its related super-pathways are Stimuli-sensing channels and SLC-mediated transmembrane transport. GO annotations related to this gene include protein binding and intracellular calcium activated chloride channel activity. An important paralog of this gene is ANO9.

UniProtKB/Swiss-Prot: ANO1_HUMAN, Q5XXA6
Function: Calcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and
smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which
generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal
and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage
development

summary for ANO1 Gene:
ANO1 functions as a calcium-activated chloride channel (CaCC). It is ubiquitously expressed in epithelia and
is thought to be important in epithelial fluid transport.

Gene Wiki entry for ANO1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000011.9  NC_018922.2  NT_167190.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANO1 gene promoter:
         FOXF2   AP-1   Pax-2   FOXD1   Pax-2a   NF-E2 p45   C/EBPalpha   LyF-1   NF-E2   RSRFC4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ANO1 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANO1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANO1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 11q13.3   Ensembl cytogenetic band:  11q13.3   HGNC cytogenetic band: 11q13.2

ANO1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANO1 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P069927:  view genomic region     (about GC identifiers)

Start:
69,924,408 bp from pter      End:
70,035,651 bp from pter
Size:
111,244 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: ANO1_HUMAN, Q5XXA6 (See protein sequence)
Recommended Name: Anoctamin-1  
Size: 986 amino acids; 114078 Da
Subunit: Homodimer. Interacts with CFTR
Subcellular location: Cell membrane; Multi-pass membrane protein. Cytoplasm. Note=Cytoplasmic localization seen in
neoplastic cells of head and neck squamous cell carcinoma (HNSCC) tumors
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
Secondary accessions: A8KAM3 Q8IYY8 Q8N7V3
Alternative splicing: 3 isoforms:  Q5XXA6-1   Q5XXA6-2   Q5XXA6-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANO1: NX_Q5XXA6

Explore proteomics data for ANO1 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q5XXA6

  • ANO1 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ANO1 Protein Expression
    REFSEQ proteins: NP_060513.5  
    ENSEMBL proteins: 
     ENSP00000347454   ENSP00000436392   ENSP00000319477   ENSP00000435797   ENSP00000433445  
     ENSP00000432843   ENSP00000435868   ENSP00000444689   ENSP00000381551  
    Reactome Protein details: Q5XXA6
    Human Recombinant Protein Products for ANO1: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals ANO1 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ANO1 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane ----
    GO:0034707chloride channel complex IEA--

    ANO1 for ontologies           About GeneDecksing



    ANO1 Antibody Products: 
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    Novus Biologicals ANO1 Antibodies
    Abcam antibodies for ANO1
    Cloud-Clone Corp. Antibodies for ANO1 
    ThermoFisher Antibodies for ANO1
    LSBio Antibodies in human, mouse, rat for ANO1 

    Assay Products for ANO1: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for ANO1
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for ANO1 
    Cloud-Clone Corp. CLIAs for ANO1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    ANO: Ion channels / Chloride channels : Calcium activated : Anoctamins

    IUPHAR Guide to PHARMACOLOGY protein family classification: CaCC 
    Calcium activated chloride channel

    1 InterPro protein domain:
     IPR007632 Anoctamin

    Graphical View of Domain Structure for InterPro Entry Q5XXA6

    ProtoNet protein and cluster: Q5XXA6

    UniProtKB/Swiss-Prot: ANO1_HUMAN, Q5XXA6
    Domain: The region spanning the fifth and sixth transmembrane domains probably forms the pore-forming region (By
    similarity)
    Similarity: Belongs to the anoctamin family


    ANO1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANO1_HUMAN, Q5XXA6
    Function: Calcium-activated chloride channel (CaCC) which plays a role in transepithelial anion transport and
    smooth muscle contraction. Required for the normal functioning of the interstitial cells of Cajal (ICCs) which
    generate electrical pacemaker activity in gastrointestinal smooth muscles. Acts as a major contributor to basal
    and stimulated chloride conductance in airway epithelial cells and plays an important role in tracheal cartilage
    development
    Enzyme regulation: ATP and calmodulin are essential for its activation. Channel activity is inhibited by CFTR
    protein and by chloride inhibitors such as niflumic acid (NFA) and 4,4'-diisothiocyanatostilbene-2,2'-disulfonic
    acid (DIDS)

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005229intracellular calcium activated chloride channel activity ISS--
    GO:0005254chloride channel activity ----
    GO:0005515protein binding IPI--
         
    ANO1 for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Ano1):
     behavior/neurological  growth/size  homeostasis/metabolism  integument  mortality/aging 
     muscle  nervous system  no phenotypic analysis  respiratory system  skeleton 

    ANO1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Ano1tm1Bdh for ANO1

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ANO1 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ANO1

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ANO1 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANO1 

    miRNA
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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate ANO1 (see all 36):
    hsa-miR-361-5p hsa-miR-300 hsa-miR-374c hsa-miR-9 hsa-miR-1183 hsa-miR-2113 hsa-miR-181b hsa-miR-1290
    SwitchGear 3'UTR luciferase reporter plasmidANO1 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    GenScript: all cDNA clones in your preferred vector: ANO1 (NM_018043)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANO1
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANO1


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ANO1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.49
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    3        Reactome Pathways for ANO1
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    ANO1 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ANO1

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    2 Interacting proteins for ANO1 (Q5XXA63 ENSP000003474544) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CDC42P609533I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006821chloride transport ISS--
    GO:0007275multicellular organismal development IEA--
    GO:0034220ion transmembrane transport TAS--
    GO:0042391regulation of membrane potential IEA--
    GO:0055085transmembrane transport TAS--

    ANO1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ANO1 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    DCPIB Selective blocker of VSAC/ICl, swell. Inhibits glucose-stimulated insulin release [82749-70-0]
    Chromanol 293BIKs blocker. Also blocks ICFTR[163163-23-3]
    NPPBInhibits calcium-sensitive chloride currents[107254-86-4]
    LonidamineMitochondrial hexokinase inhibitor[50264-69-2]
    CFTRinh 172 Voltage-independent, selective CFTR chloride channel blocker [307510-92-5]

    2 HMDB Compounds for ANO1    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ChlorineCl2 (see all 13)16887-00-6--

    10/12 IUPHAR Ligands for ANO1 (CaCC) (see all 12)    About this table 
    LigandTypeActionAffinityPubmed IDs
    DCDPC
    Channel blockerNone--
    fluoxetine
    Channel blockerNone--
    tannic acid
    Channel blockerNone--
    SITS
    Channel blockerNone--
    9-A-C
    Channel blockerNone--
    niflumic acid
    Channel blockerNone--
    flufenamic acid
    Channel blockerNone--
    mibefradil
    Channel blockerNone--
    Ca2+
    ActivatorNone--
    DIDS
    Channel blockerNone--

    Search CenterWatch for drugs/clinical trials and news about ANO1

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ANO1 gene: 
    NM_018043.5  

    Unigene Cluster for ANO1:

    Anoctamin 1, calcium activated chloride channel
    Hs.503074  [show with all ESTs]
    Unigene Representative Sequence: AY728143
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000355303(uc001opj.3 uc001opl.2 uc010rqk.2) ENST00000531604
    ENST00000316296(uc001opk.1) ENST00000530676 ENST00000530480 ENST00000529913
    ENST00000531349 ENST00000531300 ENST00000529636 ENST00000525494(uc010rql.1)
    ENST00000538023 ENST00000398543
    miRNA
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    8/36 QIAGEN miScript miRNA Assays for microRNAs that regulate ANO1 (see all 36):
    hsa-miR-361-5p hsa-miR-300 hsa-miR-374c hsa-miR-9 hsa-miR-1183 hsa-miR-2113 hsa-miR-181b hsa-miR-1290
    SwitchGear 3'UTR luciferase reporter plasmidANO1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ANO1
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANO1

    Additional mRNA sequence: 

    AK001123.1 AK293088.1 AK303971.1 AL833582.1 AY728143.1 BC027590.2 HQ418153.1 NR_030691.1 

    9 DOTS entries:

    DT.101980576  DT.410711  DT.100019792  DT.120698490  DT.92032108  DT.92431354  DT.99930906  DT.120698476 
    DT.91664586 

    24/134 AceView cDNA sequences (see all 134):

    AI168140 BM840190 BQ446478 BM841770 BF438336 AL833582 BE184802 AI697426 
    AI698683 BQ082130 BM842120 BF446942 AI983144 AI905727 AA553708 AI055977 
    CA449823 NM_018043 AI521498 BF593296 BF803248 AI979079 BG055062 AA916714 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for ANO1 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20a · 20b ^ 21 ^
    SP1:              -     -     -                                                                                                           -     -               
    SP2:                                                                                                        -                             -     -               
    SP3:                                                                                                        -                             -     -               
    SP4:                          -                                                                             -                                                   
    SP5:              -     -     -           -                                                                                                                     

    ExUns: 22 ^ 23a · 23b ^ 24 ^ 25 ^ 26a · 26b ^ 27
    SP1:                                                
    SP2:                                      -         
    SP3:                                                
    SP4:                                                
    SP5:                                                


    ECgene alternative splicing isoforms for ANO1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ANO1 expression in normal human tissues (normalized intensities)      ANO1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAATCTGATG
    ANO1 Expression
    About this image


    ANO1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/33 selected tissues (see all 33) fully expand
     
     Kidney (Urinary System)    fully expand to see all 14 entries
             Loop of Henle Cells Loop of Henle
             Proximal Tubule
             visceral organ/mesonephros of female/mesonephric mesenchyme of female mesonephros   
     
     Brain (Nervous System)    fully expand to see all 7 entries
             Thalamus
             brain/forebrain/telencephalon   
     
     Lung (Respiratory System)    fully expand to see all 4 entries
             Stem Bronchi
             visceral organ/lung/left lung   
     
     Neural Tube (Nervous System)    fully expand to see all 4 entries
             Telencephalon
     
     Breast (NULL)    fully expand to see all 3 entries
             Human Mammary Epithelial Cells (HMEpiC)   
             breast epithelium   

    See ANO1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANO1

    SOURCE GeneReport for Unigene cluster: Hs.503074

    UniProtKB/Swiss-Prot: ANO1_HUMAN, Q5XXA6
    Tissue specificity: Broadly expressed with higher levels in liver, skeletal muscle and gastrointestinal muscles

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for ANO1 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ano11 , 5 anoctamin 1, calcium activated chloride channel1, 5 85.44(n)1
    92.28(a)1
      7 (88.85 cM)5
    1017721  NM_178642.51  NP_848757.41 
     1445885495 
    chicken
    (Gallus gallus)
    Aves ANO11 anoctamin 1, calcium activated chloride channel 77.24(n)
    86.69(a)
      423144  XM_421072.3  XP_421072.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    ANO16
    anoctamin 1, calcium activated chloride channel
    87(a)
    77(a)
    possible ortholog
    1 ↔ 1
    GL343283.1(1275-57379)
    1(54886786-54968111)
    zebrafish
    (Danio rerio)
    Actinopterygii CD759475.12   -- 76.69(n)    CD759475.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG167181 CG16718 53.74(n)
    46.21(a)
      42340  NM_001202319.1  NP_001189248.1 


    ENSEMBL Gene Tree for ANO1 (if available)
    TreeFam Gene Tree for ANO1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANO1 gene
    ANO92  ANO62  ANO22  ANO52  ANO102  ANO32  ANO42  ANO82  
    ANO72  
    8 SIMAP similar genes for ANO1 using alignment to 7 protein entries:     ANO1_HUMAN (see all proteins):
    ANO2    ANO3    ANO4    ANO5    ANO7    ANO6
    DKFZp434P102    ANO9

    ANO1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2797 SNPs in ANO1 are shown (see all 2797)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs576478581,2
    C--69868690(+) TTTTT-/TTGAGAC 2 -- int11Minor allele frequency- TT:0.00NA 2
    rs1833474221,2
    --69923550(+) ATGGCC/TCCTGG 1 -- us2k10--------
    rs1482993791,2
    --69923689(+) CCCCCA/GCTCCG 1 -- us2k10--------
    rs108979641,2
    C,F,A--69923717(+) ACAGCC/TTTGCC 1 -- us2k16Minor allele frequency- T:0.16NA WA EA 364
    rs1417656651,2
    C--69923764(+) CCTCAC/GAGGAT 1 -- us2k10--------
    rs1181560201,2
    F--69923833(+) TTCCAA/GCCTTG 1 -- us2k11Minor allele frequency- G:0.04EA 120
    rs1150289921,2
    C,F--69923874(+) CTCACG/ACCCTA 1 -- us2k11Minor allele frequency- A:0.03WA 118
    rs1472163181,2
    --69924048(+) CCCCGA/GAGGAG 1 -- us2k10--------
    rs1879007211,2
    --69924071(+) TGACAA/GCAGGA 1 -- us2k10--------
    rs1180330381,2
    F--69924094(+) GGAGGG/AAAAGG 1 -- us2k11Minor allele frequency- A:0.02NA 120

    HapMap Linkage Disequilibrium report for ANO1 (69924408 - 70035651 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10/23 variations for ANO1 (see all 23):    About this table     
    Variant IDTypeSubtypePubMed ID
    dgv222e199CNV Deletion23128226
    esv2744709CNV Deletion23290073
    esv2744704CNV Deletion23290073
    esv1360750CNV Deletion17803354
    esv2744705CNV Deletion23290073
    esv2744707CNV Deletion23290073
    esv2744710CNV Deletion23290073
    esv2744706CNV Deletion23290073
    nsv820744CNV Deletion20802225
    esv1620418CNV Deletion17803354

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 610108    OMIM disorders: --

    15 diseases for ANO1:    About MalaCards
    small intestinal sarcoma    sarcocystosis    toxic pneumonitis    gastrointestinal stromal tumor
    oral cancer    gastroparesis    chondroblastoma    constipation
    cerebellar ataxia    leiomyosarcoma    ataxia    cystic fibrosis
    sarcoma    squamous cell carcinoma    pancreatitis

    2 diseases from the University of Copenhagen DISEASES database for ANO1:
    Gastrointestinal stromal tumor     Small intestinal sarcoma

    ANO1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for ANO1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 3 12739008 (1), 15375614 (1)

    Genetic Association Database (GAD): ANO1
    Human Genome Epidemiology (HuGE) Navigator: ANO1 (4 documents)

    Export disorders for ANO1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for ANO1 gene, integrated from 9 sources (see all 74):
    (articles sorted by number of sources associating them with ANO1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. FLJ10261 gene, located within the CCND1-EMS1 locus on human chromosome 11q13, encodes the eight-transmembrane protein homologous to C12orf3, C11orf25 and FLJ34272 gene products. (PubMed id 12739008)1, 2, 9 Katoh M. and Katoh M. (2003)
    2. Identification and characterization of TMEM16E and TMEM16F genes in silico. (PubMed id 15067359)1, 3, 9 Katoh M. and Katoh M. (2004)
    3. CFTR and TMEM16A are separate but functionally related Cl- channels. (PubMed id 22178883)1, 2 Ousingsawat J....Kunzelmann K. (2011)
    4. Variation at the NFATC2 locus increases the risk of t hiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipr il and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (2010)
    5. Association between genetic variants in VEGF, ERCC3 a nd occupational benzene haematotoxicity. (PubMed id 19773279)1, 4 Hosgood H.D....Lan Q. (2009)
    6. TMEM16A confers receptor-activated calcium-dependent chloride conductance. (PubMed id 18724360)1, 3 Yang Y.D.... Oh U. (2008)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    8. TMEM16A-TMEM16B chimaeras to investigate the structure -function relationship of calcium-activated chloride channels. (PubMed id 23570556)1 Scudieri P....Galietta L.J. (2013)
    9. Loss of DOG-1 expression associated with shift from sp indled to epithelioid morphology in gastric gastrointestinal stromal tumors with KIT and platelet-derived growth factor receptor a mutations. (PubMed id 23218903)1 Agaimy A....Chetty R. (2013)
    10. Potent vasorelaxant activity of the TMEM16A inhibitor T16A(inh) -A01. (PubMed id 22946562)1 Davis A.J....Greenwood I.A. (2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 55107 HGNC: 21625 AceView: TMEM16A Ensembl:ENSG00000131620 euGenes: HUgn55107
    ECgene: ANO1 H-InvDB: ANO1

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ANO1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for ANO1 gene:
    Search GeneIP for patents involving ANO1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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