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ANO5 Gene

protein-coding   GIFtS: 52
GCID: GC11P022172

Anoctamin 5

(Previous names: transmembrane protein 16E, limb girdle muscular dystrophy...)
(Previous symbols: TMEM16E, LGMD2L)
  See ANO5-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)
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Aliases
Anoctamin 51 2     Limb Girdle Muscular Dystrophy 2L (Autosomal Recessive)1 2
TMEM16E1 2 3 5     Gnathodiaphyseal Dysplasia 1 Protein2 3
Transmembrane Protein 16E1 2 3     anoctamin-52
LGMD2L1 2 5     Integral Membrane Protein GDD12
GDD12 3 5     

External Ids:    HGNC: 273371   Entrez Gene: 2038592   Ensembl: ENSG000001717147   OMIM: 6086625   UniProtKB: Q75V663   

Export aliases for ANO5 gene to outside databases

Previous GC identifer: GC11P021897


(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 ANO5 Gene:
This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a
calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia.
Alternatively spliced transcript variants have been described. (provided by RefSeq, Nov 2009)

GeneCards Summary for ANO5 Gene:
ANO5 (anoctamin 5) is a protein-coding gene. Diseases associated with ANO5 include limb-girdle muscular dystrophy type 2l, and gnathodiaphyseal dysplasia. GO annotations related to this gene include intracellular calcium activated chloride channel activity. An important paralog of this gene is ANO9.

UniProtKB/Swiss-Prot: ANO5_HUMAN, Q75V66
Function: Does not exhibit calcium-activated chloride channel (CaCC) activity




(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:
NC_000011.10  NT_009237.19  NC_018922.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ANO5 gene promoter:
         PPAR-gamma1   HSF2   Brachyury   HSF1 (long)   HSF1short   Sox9   c-Myb   PPAR-gamma2   Evi-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANO5 promoter sequence
   Search Chromatin IP Primers for ANO5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ANO5


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

Entrez Gene cytogenetic band: 11p14.3   Ensembl cytogenetic band:  11p14.3   HGNC cytogenetic band: 11p15.1

ANO5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANO5 gene location

GeneLoc information about chromosome 11         GeneLoc Exon Structure

GeneLoc location for GC11P022172:  view genomic region     (about GC identifiers)

Start:
22,214,722 bp from pter      End:
22,304,913 bp from pter
Size:
90,192 bases      Orientation:
plus 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: ANO5_HUMAN, Q75V66 (See protein sequence)
Recommended Name: Anoctamin-5  
Size: 913 amino acids; 107188 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

Explore the universe of human proteins at neXtProt for ANO5: NX_Q75V66

Explore proteomics data for ANO5 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn335, Asn366, Asn380, Asn768, Asn778, Asn791
  • Modification sites at PhosphoSitePlus

  • See ANO5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001136121.1  NP_998764.1  

    ENSEMBL proteins: 
     ENSP00000315371  
    Reactome Protein details: Q75V66

    ANO5 Human Recombinant Protein Products:

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    (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 Q75V66

    ProtoNet protein and cluster: Q75V66

    UniProtKB/Swiss-Prot: ANO5_HUMAN, Q75V66
    Similarity: Belongs to the anoctamin family


    Find genes that share domains with ANO5           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: ANO5_HUMAN, Q75V66
    Function: Does not exhibit calcium-activated chloride channel (CaCC) activity

         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 ANO5           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for ANO5:
     Increased gamma-H2AX phosphory 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ANO5
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    Selected qRT-PCR Assays for microRNAs that regulate ANO5 (see all 18):
    hsa-miR-579 hsa-miR-340 hsa-miR-4314 hsa-miR-374c hsa-miR-124 hsa-miR-506 hsa-miR-514b-3p hsa-miR-642b
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    (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
    ANO5_HUMAN, Q75V66: Endoplasmic reticulum membrane; Multi-pass membrane protein. Cell membrane. Note=Colocalized
    with CALR/calreticulin. Shows an intracellular localization according to PubMed:22075693
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane5
    peroxisome2

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IDA--
    GO:0005789endoplasmic reticulum membrane IEA--
    GO:0005886plasma membrane TAS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ANO5           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 ANO5 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 ANO5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for ANO5
        Stimuli-sensing channels


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ANO5
    Interactions:

        Search GeneGlobe Interaction Network for ANO5

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

    2 Interacting proteins for ANO5 (Q75V663 ENSP000003153714) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK8P459833I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    Gene Ontology (GO): 2 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0034220ion transmembrane transport TAS--
    GO:0055085transmembrane transport TAS--

    Find genes that share ontologies with ANO5           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
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    Browse Tocris compounds for ANO5

    2 HMDB Compounds for ANO5    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 ANO5 gene (2 alternative transcripts): 
    NM_001142649.1  NM_213599.2  

    Unigene Cluster for ANO5:

    Anoctamin 5
    Hs.154329  [show with all ESTs]
    Unigene Representative Sequence: AL833271
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000324559(uc001mqi.2 uc001mqj.2) ENST00000532043
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ANO5 (see all 18):
    hsa-miR-579 hsa-miR-340 hsa-miR-4314 hsa-miR-374c hsa-miR-124 hsa-miR-506 hsa-miR-514b-3p hsa-miR-642b
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      QuantiTect SYBR Green Assays in human, mouse, rat ANO5
      QuantiFast Probe-based Assays in human, mouse, rat ANO5

    Additional mRNA sequence: 

    AB125267.1 AK092680.1 AK125046.1 AL832374.1 AL833271.1 

    3 DOTS entries:

    DT.309787  DT.99962279  DT.65285672 

    Selected AceView cDNA sequences (see all 52):

    AI167890 F20661 BU742779 AI656017 BQ086176 NM_213599 AB125267 H99734 
    BM728878 AI452416 BX096380 W19512 AA332697 CA773613 AI401652 AL833271 
    BQ102285 CA773396 CA391883 CA947146 AL832374 BG568450 CA775403 BF055276 

    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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    ANO5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCAGGTGATT
    ANO5 Expression
    About this image


    ANO5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Human embryonic stem cells (family)
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Epithelial Cells
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Eye (Sensory Organs)
             Mature Retinal Pigmented Epithelium Cells Retinal Pigmented Epithelium
     
     Skeletal Muscle (Muscoskeletal System)
    ANO5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ANO5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.154329

    UniProtKB/Swiss-Prot: ANO5_HUMAN, Q75V66
    Tissue specificity: Highly expressed in brain, heart, kidney, lung, and skeletal muscle. Weakly expressed in bone
    marrow, fetal liver, placenta, spleen, thymus, osteoblasts and periodontal ligament cells

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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)
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    This gene was present in the common ancestor of animals.

    Orthologs for ANO5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ano51 , 5 anoctamin 51, 5 80.12(n)1
    81.37(a)1
      7 (32.76 cM)5
    2332461  NM_177694.61  NP_808362.21 
     515110295 
    chicken
    (Gallus gallus)
    Aves ANO51 anoctamin 5 70.37(n)
    69.87(a)
      422973  NM_001168384.1  NP_001161856.1 
    lizard
    (Anolis carolinensis)
    Reptilia ANO56
    anoctamin 5
    68(a)
    1 ↔ 1
    1(58576067-58611061)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.112232 Transcribed sequence with weak similarity to protein more 76.17(n)    AL899430.2 
    zebrafish
    (Danio rerio)
    Actinopterygii ano5b1 anoctamin 5b 63.63(n)
    62.68(a)
      560102  NM_001079983.1  NP_001073452.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69381 CG6938 51(n)
    43.59(a)
      39362  NM_140278.3  NP_648535.2 


    ENSEMBL Gene Tree for ANO5 (if available)
    TreeFam Gene Tree for ANO5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ANO5 gene
    ANO92  ANO62  ANO22  ANO12  ANO102  ANO32  ANO42  ANO82  
    ANO72  
    7 SIMAP similar genes for ANO5 using alignment to 1 protein entry:     ANO5_HUMAN:
    ANO6    ANO4    ANO3    ANO1    ANO2    ANO7
    ANO9

    Find genes that share paralogs with ANO5           About GenesLikeMe



    (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 ANO5 (see all 2078)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 11 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1378545231,2,,4
    C,FLimb-girdle muscular dystrophy 2L (LGMD2L)4 pathogenic122182443(+) AGATGG/TGAAGA 4 G V mis12Minor allele frequency- T:0.00NA EU 5871
    VAR_0235244
    Gnathodiaphyseal dysplasia (GDD)4--see VAR_0235242 C G mis40--------
    VAR_0235254
    Gnathodiaphyseal dysplasia (GDD)4--see VAR_0235252 C R mis40--------
    VAR_0635834
    Miyoshi muscular dystrophy 3 (MMD3)4--see VAR_0635832 R C mis40--------
    rs1378545211,2
    Cpathogenic122167347(+) AAAAA-/ATCAGC 4 N KS fra10--------
    rs1191032341,2
    Cpathogenic122197154(+) CACTCC/G/TGTGAT 6 R G C mis10--------
    rs1378545241,2
    Cpathogenic122201847(+) TGAAGC/GTATGT 4 A G mis10--------
    rs1378545291,2
    Cpathogenic122220969(+) TTCCCC/TGTCTA 4 R C mis10--------
    rs1378545281,2
    Cpathogenic122221008(+) CCACA-/CAGCCTA 4 A Q fra10--------
    rs618793411,2
    Cuntested122139576(+) AGGAGA/C/GAGGAG 2 -- ut514WA CSA 5

    HapMap Linkage Disequilibrium report for ANO5 (22214722 - 22304913 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ANO5 (see all 14):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2744213CNV Deletion23290073
    esv2214569CNV Deletion18987734
    esv2744214CNV Deletion23290073
    esv2247932CNV Deletion18987734
    esv2668665CNV Deletion23128226
    esv1750598CNV Deletion17803354
    esv2744215CNV Deletion23290073
    esv2678239CNV Deletion23128226
    esv1534919CNV Insertion17803354
    esv271342CNV Insertion20981092

    Human Gene Mutation Database (HGMD): ANO5
    Locus Specific Mutation Databases (LSDB): ANO5

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ANO5
    DNA2.0 Custom Variant and Variant Library Synthesis for ANO5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608662   
    OMIM disorders: 166260  611307  613319  
    UniProtKB/Swiss-Prot: ANO5_HUMAN, Q75V66
  • Gnathodiaphyseal dysplasia (GDD) [MIM:166260]: Rare skeletal syndrome characterized by bone fragility,
    sclerosis of tubular bones, and cemento-osseous lesions of the jawbone. Patients experience frequent bone
    fractures caused by trivial accidents in childhood; however the fractures heal normally without bone deformity.
    The jaw lesions replace the tooth-bearing segments of the maxilla and mandible with fibrous connective tissues,
    including various amounts of cementum-like calcified mass, sometimes causing facial deformities. Patients also
    have a propensity for jaw infection and often suffer from purulent osteomyelitis-like symptoms, such as swelling
    of and pus discharge from the gums, mobility of the teeth, insufficient healing after tooth extraction and
    exposure of the lesions into the oral cavity. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Limb-girdle muscular dystrophy 2L (LGMD2L) [MIM:611307]: An autosomal recessive degenerative myopathy
    characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical
    quadriceps femoris and biceps brachii atrophy. Note=The disease is caused by mutations affecting the gene
    represented in this entry
  • Miyoshi muscular dystrophy 3 (MMD3) [MIM:613319]: A late-onset muscular dystrophy characterized by distal
    muscle weakness of the lower limbs, calf muscle discomfort and weakness, quadriceps atrophy. Muscle weakness and
    atrophy may be asymmetric. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for ANO5:    
    About MalaCards
    limb-girdle muscular dystrophy type 2l    gnathodiaphyseal dysplasia    ano5-related muscle diseases    miyoshi muscular dystrophy 3
    miyoshi muscular dystrophy 1    distal muscular dystrophy    muscular dystrophy

    1 disease from the University of Copenhagen DISEASES database for ANO5:
    Muscular dystrophy

    Find genes that share disorders with ANO5           About GenesLikeMe

    1 Novoseek inferred disease relationship for ANO5 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    dysplasia 63.6 5 20096397 (1), 20005074 (1), 15375614 (1), 15882990 (1)


    Export disorders for ANO5 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 ANO5 gene, integrated from 10 sources (see all 36):
    (articles sorted by number of sources associating them with ANO5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification and characterization of TMEM16E and TMEM16F genes in silico. (PubMed id 15067359)1, 2, 3, 9 Katoh M. and Katoh M. (Int. J. Oncol. 2004)
    2. Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. (PubMed id 20096397)1, 2, 3, 9 Bolduc V....Brais B. (Am. J. Hum. Genet. 2010)
    3. The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD). (PubMed id 15124103)1, 2, 9 Tsutsumi S.... Itakura M. (Am. J. Hum. Genet. 2004)
    4. Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. (PubMed id 22499103)1, 2 Schessl J.... Schoser B. (Muscle Nerve 2012)
    5. TMEM16E (GDD1) exhibits protein instability and distinct characteristics in chloride channel/pore forming ability. (PubMed id 23843187)1 Tran T.T....Kamata N. (J. Cell. Physiol. 2014)
    6. A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. (PubMed id 23047743)1 Marconi C....Seri M. (Eur. J. Hum. Genet. 2013)
    7. ANO5 mutations in the Dutch limb girdle muscular dystrophy population. (PubMed id 23607914)1 van der Kooi A.J....Ginjaar I.B. (Neuromuscul. Disord. 2013)
    8. Anoctamin 5 muscular dystrophy in Denmark: prevalence, genotypes, phenotypes, cardiac findings, and muscle protein expression. (PubMed id 23670307)1 Witting N....Vissing J. (J. Neurol. 2013)
    9. ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. (PubMed id 23606453)1 Sarkozy A....LochmA1ller H. (Hum. Mutat. 2013)
    10. Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. (PubMed id 23453885)1 (Lancet 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     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)
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    Entrez Gene: 203859 HGNC: 27337 AceView: TMEM16E Ensembl:ENSG00000171714 euGenes: HUgn203859
    ECgene: ANO5 H-InvDB: ANO5

    (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)
    About This Section

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    NameDescription
    PharmGKB entry for ANO5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for ANO5 gene:
    Search GeneIP for patents involving ANO5

    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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