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ANO10 Gene

protein-coding   GIFtS: 52
GCID: GC03M043396

Anoctamin 10

(Previous name: transmembrane protein 16K)
(Previous symbol: TMEM16K)
  See ANO10-related disease
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Anoctamin 101 2
TMEM16K1 2 3 5
Transmembrane Protein 16K1 2 3
SCAR102 5
anoctamin-102

External Ids:    HGNC: 255191   Entrez Gene: 551292   Ensembl: ENSG000001607467   OMIM: 6137265   UniProtKB: Q9NW153   

Export aliases for ANO10 gene to outside databases

Previous GC identifer: GC03M043385


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ANO10 Gene:
The transmembrane protein encoded by this gene is a member of a family of calcium-activated chloride channels.
Defects in this gene may be a cause of autosomal recessive spinocerebellar ataxia-10. Several transcript variants
encoding different isoforms have been found for this gene.(provided by RefSeq, Mar 2011)

GeneCards Summary for ANO10 Gene:
ANO10 (anoctamin 10) is a protein-coding gene. Diseases associated with ANO10 include spinocerebellar ataxia, autosomal recessive, 10. GO annotations related to this gene include intracellular calcium activated chloride channel activity. An important paralog of this gene is ANO9.

UniProtKB/Swiss-Prot: ANO10_HUMAN, Q9NW15
Function: Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_022517.19  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANO10 gene promoter:
         FOXF2   Pbx1a   GCNF   LCR-F1   Evi-1   C/EBPalpha   c-Rel   GCNF-1   Sox9   GCNF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANO10 promoter sequence
   Search Chromatin IP Primers for ANO10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANO10


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

Entrez Gene cytogenetic band: 3p22.1   Ensembl cytogenetic band:  3p21.33   HGNC cytogenetic band: 3p22.1-p21.33

ANO10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANO10 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M043396:  view genomic region     (about GC identifiers)

Start:
43,396,351 bp from pter      End:
43,733,086 bp from pter
Size:
336,736 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ANO10_HUMAN, Q9NW15 (See protein sequence)
Recommended Name: Anoctamin-10  
Size: 660 amino acids; 76329 Da
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
Sequence caution: Sequence=BAA91573.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence;
Sequence=BC038855; Type=Frameshift; Positions=42;
Secondary accessions: A8K8K3 A8MV74 B3KTZ1 B3KY93 B4DJ83 B4DNK2 B7WP12 C9JHS1 Q8IXX9
Alternative splicing: 5 isoforms:  Q9NW15-1   Q9NW15-2   Q9NW15-3   Q9NW15-4   Q9NW15-5   (No experimental confirmation available. Ref.1 (BAG60264) sequence is in conflict in position: 607:S->P)

Explore the universe of human proteins at neXtProt for ANO10: NX_Q9NW15

Explore proteomics data for ANO10 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys193
  • Modification sites at PhosphoSitePlus

  • See ANO10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (5 alternative transcripts): 
    NP_001191760.1  NP_001191761.1  NP_001191762.1  NP_001191763.1  NP_060545.3  

    ENSEMBL proteins: 
     ENSP00000292246   ENSP00000327767   ENSP00000379398   ENSP00000396990   ENSP00000394119  
     ENSP00000412997   ENSP00000406432   ENSP00000416266   ENSP00000402010   ENSP00000402845  
     ENSP00000399103   ENSP00000397360   ENSP00000406712   ENSP00000404988  
    Reactome Protein details: Q9NW15

    ANO10 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for ANO10
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    Novus Biologicals ANO10 Protein
    Novus Biologicals ANO10 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ANO10

     
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    ANO10 Antibody Products:

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    LSBio Antibodies in human, mouse, rat for ANO10

    ANO10 Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. ELISAs for ANO10
    Cloud-Clone Corp. CLIAs for ANO10
    Search eBioscience for ELISAs for ANO10 


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

    1 InterPro protein domain:
     IPR007632 Anoctamin

    Graphical View of Domain Structure for InterPro Entry Q9NW15

    ProtoNet protein and cluster: Q9NW15

    UniProtKB/Swiss-Prot: ANO10_HUMAN, Q9NW15
    Similarity: Belongs to the anoctamin family


    Find genes that share domains with ANO10           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ANO10_HUMAN, Q9NW15
    Function: Does not exhibit calcium-activated chloride channel (CaCC) activity. Can inhibit the activity of ANO1

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005229NOT intracellular calcium activated chloride channel activity IDA--
         
    Find genes that share ontologies with ANO10           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ANO10:
     Increased S DNA content  Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANO10
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ANO10

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ANO10
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ANO10

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ANO10 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ANO10:
    hsa-miR-633 hsa-miR-935
    SwitchGear 3'UTR luciferase reporter plasmidANO10 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ANO10
    Predesigned siRNA for gene silencing in human, mouse, rat ANO10

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ANO10

    Clone
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    OriGene clones in human, mouse for ANO10 (see all 9)
    OriGene ORF clones in mouse, rat for ANO10
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ANO10 (NM_018075)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANO10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANO10

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ANO10 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANO10


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ANO10_HUMAN, Q9NW15: Cell membrane; Multi-pass membrane protein. Note=Shows predominantly an intracellular
    localization with a weak expression in the cell membrane
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane5
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ANO10           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ANO10 About    
    See pathways by source

    SuperPathContained pathways About
    1Ion channel transport
    Ion channel transport0.58
    Stimuli-sensing channels0.58
    2Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds
    Transmembrane transport of small molecules0.47


    Find genes that share SuperPaths with ANO10           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ANO10
        Stimuli-sensing channels


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANO10
    Interactions:

        Search GeneGlobe Interaction Network for ANO10

    STRING Interaction Network Preview (showing 5 interactants - click image to see 15)

    Selected Interacting proteins for ANO10 (ENSP000002922464) via UniProtKB, MINT, STRING, and/or I2D (see all 15)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CRYZENSP000003393994STRING: ENSP00000339399
    GTF2BENSP000003595314STRING: ENSP00000359531
    UBE2IENSP000003248974STRING: ENSP00000324897
    UBCENSP000003448184STRING: ENSP00000344818
    CLN3ENSP000003530734STRING: ENSP00000353073
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008219cell death IEA--
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with ANO10           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ANO10

    2 HMDB Compounds for ANO10    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ChlorineCl2 (see all 13)16887-00-6--



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ANO10 gene (5 alternative transcripts): 
    NM_001204831.1  NM_001204832.1  NM_001204833.1  NM_001204834.1  NM_018075.3  

    Unigene Cluster for ANO10:

    Anoctamin 10
    Hs.656657  [show with all ESTs]
    Unigene Representative Sequence: NM_001204831
    17 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000466658 ENST00000292246(uc003cmv.3 uc011azs.2 uc003cmw.3 uc010hil.3 uc011azt.2)
    ENST00000350459 ENST00000396091 ENST00000414522 ENST00000451430 ENST00000448045
    ENST00000427171 ENST00000428472 ENST00000444344 ENST00000456438 ENST00000413397
    ENST00000439141 ENST00000428831 ENST00000436073 ENST00000486959 ENST00000495772

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ANO10 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ANO10:
    hsa-miR-633 hsa-miR-935
    SwitchGear 3'UTR luciferase reporter plasmidANO10 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ANO10
    Predesigned siRNA for gene silencing in human, mouse, rat ANO10
    Clone
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    OriGene clones in human, mouse for ANO10 (see all 9)
    OriGene ORF clones in mouse, rat for ANO10
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 5): ANO10 (NM_018075)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ANO10
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ANO10
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for ANO10
    OriGene qSTAR qPCR primer pairs in human, mouse for ANO10
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ANO10
      QuantiTect SYBR Green Assays in human, mouse, rat ANO10
      QuantiFast Probe-based Assays in human, mouse, rat ANO10

    Additional mRNA sequence: 

    AK096302.1 AK131223.1 AK292368.1 AK295969.1 AK297949.1 AL832508.1 BC038855.1 

    12 DOTS entries:

    DT.100045759  DT.97771205  DT.101974724  DT.100821793  DT.120874832  DT.95253155  DT.102826055  DT.92424378 
    DT.92424377  DT.100652144  DT.120874864  DT.99928513 

    Selected AceView cDNA sequences (see all 110):

    AK131223 BQ879428 CB150083 AA252209 CK301128 AI423210 BM985214 AI268519 
    AU160595 AK096302 AA913601 AA603763 CF456717 AI625507 BQ189415 AL832508 
    AW081850 BE222944 AA886783 BI789247 BP376433 CA445985 BU156091 CA421970 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ANO10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCAGGGAC
    ANO10 Expression
    About this image


    ANO10 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Heart (Cardiovascular System)
    ANO10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANO10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.656657

    UniProtKB/Swiss-Prot: ANO10_HUMAN, Q9NW15
    Tissue specificity: Highly expressed in the brain. Intermediate levels in the retina and heart and low levels in
    the placenta, liver, lung, duodenum, kidney, testis and spleen. In brain areas, highest expression in the frontal
    and occipital cortices and in the cerebellum. Lower expression in the fetal brain than in the adult brain

        Custom PCR Arrays for ANO10
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    QuantiFast Probe-based Assays in human, mouse, rat ANO10
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANO10

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for ANO10 gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ano101 , 5 anoctamin 101, 5 85.19(n)1
    91.78(a)1
      9 (72.94 cM)5
    1025661  NM_133979.31  NP_598740.11 
     1221758795 
    chicken
    (Gallus gallus)
    Aves ANO101 anoctamin 10 74.28(n)
    77.02(a)
      420674  XM_004939430.1  XP_004939487.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANO106
    anoctamin 10
    74(a)
    1 ↔ 1
    1(192788684-192871457)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia ano101 anoctamin 10 68.88(n)
    70.11(a)
      100487513  XM_002937850.2  XP_002937896.1 
    zebrafish
    (Danio rerio)
    Actinopterygii wufc37b042 Transcribed sequence with weak similarity to protein more 73.23(n)    57052548 
    fruit fly
    (Drosophila melanogaster)
    Insecta Axs1 Abnormal X segregation 48.54(n)
    39.29(a)
      32645  NM_057429.3  NP_476777.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G730201 AT1G73020 44.85(n)
    34.76(a)
      843633  NM_001198459.1  NP_001185388.1 
    rice
    (Oryza sativa)
    Liliopsida Os01g07067001 Os01g0706700 44.4(n)
    35.62(a)
      4327675  NM_001050553.1  NP_001044018.1 


    ENSEMBL Gene Tree for ANO10 (if available)
    TreeFam Gene Tree for ANO10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANO10 gene
    ANO92  ANO62  ANO22  ANO12  ANO52  ANO32  ANO42  ANO82  
    ANO72  

    Find genes that share paralogs with ANO10           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ANO10
    PGOHUM00000247741


    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ANO10 (see all 4586)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0648884
    Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10)4--see VAR_0648882 L R mis40--------
    rs1457539151,2
    C--43337913(+) GAGTG-/GAGGTGC 5 -- ds50010--------
    rs1167983071,2
    F--43337941(+) TCTTGG/ACTACA 5 -- ds50011Minor allele frequency- A:0.01NA 120
    rs778099031,2
    C,F--43338140(+) CCCTTG/AGCTTG 5 -- ds50011Minor allele frequency- A:0.01WA 118
    rs1457099321,2
    --43338355(+) GCGGTA/TCCTAT 5 -- ds50010--------
    rs1467570371,2
    C--43338387(+) GGTTG-/CCTTTA 5 -- ut310--------
    rs1846410591,2
    --43338388(+) GTTGCC/TTTTAA 5 -- ut310--------
    rs1127875891,2
    C,F--43338495(+) TGTACC/TCCGCT 5 -- ut312Minor allele frequency- T:0.04NA 122
    rs1145185281,2
    C,F--43338498(+) ACCCCG/ACTCAC 5 -- ut311Minor allele frequency- A:0.10WA 118
    rs170756121,2
    C,F,H--43338510(+) CTCAAC/ATGAGG 5 -- ut31 ese322Minor allele frequency- A:0.10NA NS EA WA CSA 2152

    HapMap Linkage Disequilibrium report for ANO10 (43396351 - 43646351 bp, first 250kb of ANO10)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for ANO10:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2525562CNV Insertion19546169
    esv1480257CNV Insertion17803354
    esv270605CNV Insertion20981092
    esv1011105CNV Insertion20482838
    nsv820135CNV Loss19587683
    nsv822070CNV Loss20364138
    dgv804n67CNV Loss20364138
    nsv834673CNV Gain17160897
    esv5543OTHER Inversion19470904

    Human Gene Mutation Database (HGMD): ANO10
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ANO10
    DNA2.0 Custom Variant and Variant Library Synthesis for ANO10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613726   
    OMIM disorders: 613728  
    UniProtKB/Swiss-Prot: ANO10_HUMAN, Q9NW15
  • Spinocerebellar ataxia, autosomal recessive, 10 (SCAR10) [MIM:613728]: Spinocerebellar ataxia is a
    clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination
    of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum
    with variable involvement of the brainstem and spinal cord. SCAR10 is characterized by onset in the teenage or
    young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on
    brain imaging. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 1 disease for ANO10:    
    About MalaCards
    spinocerebellar ataxia, autosomal recessive, 10

    1 disease from the University of Copenhagen DISEASES database for ANO10:
    Cerebellar ataxia

    Find genes that share disorders with ANO10           About GenesLikeMe

    Genetic Association Database (GAD): ANO10

    Export disorders for ANO10 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)
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    PubMed articles for ANO10 gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with ANO10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    2. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1, 3 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    3. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. (PubMed id 21984732)2 Scudieri P.... Galietta L.J. (Exp. Physiol. 2012)
    4. ANO10 c.1150_1151del is a founder mutation causing autosomal recessive cerebellar ataxia in Roma/Gypsies. (PubMed id 22008874)1 Chamova T....Tournev I. (J. Neurol. 2012)
    5. ANOs 3-7 in the anoctamin/Tmem16 Cl- channel family are intracellular proteins. (PubMed id 22075693)2 Duran C.... Hartzell H.C. (Am. J. Physiol. 2012)
    6. Recent advances in the genetics of cerebellar ataxias. (PubMed id 22527681)1 Sailer A. and Houlden H. (Curr Neurol Neurosci Rep 2012)
    7. Anoctamins are a family of Ca2+ activated Cl- channels. (PubMed id 22946059)2 Tian Y.... Kunzelmann K. (J. Cell Sci. 2012)
    8. The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age. (PubMed id 22302790)2 Winpenny J.P. and Gray M.A. (Exp. Physiol. 2012)
    9. Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. (PubMed id 23251661)1 Comuzzie A.G....Butte N.F. (PLoS ONE 2012)
    10. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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)
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    Entrez Gene: 55129 HGNC: 25519 AceView: FLJ10375 Ensembl:ENSG00000160746 euGenes: HUgn55129
    ECgene: ANO10 H-InvDB: ANO10

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ANO10 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANO10 gene:
    Search GeneIP for patents involving ANO10

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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