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

ANO8 Gene

protein-coding   GIFtS: 49
GCID: GC19M017434

anoctamin 8

(Previous names: KIAA1623, transmembrane protein 16H )
(Previous symbols: KIAA1623, TMEM16H)
  Search for ANO8
in our new
 Human Malady Compendium 
Biological research products
for ANO8
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Anoctamin 81 2     Anoctamin-81
KIAA16231 2 3 5     EC 5.4.2.108
TMEM16H1 2 3 5     EC 6.1.18
Transmembrane Protein 16H1 2 3     

External Ids:    HGNC: 293291   Entrez Gene: 577192   Ensembl: ENSG000000748557   OMIM: 6102165   UniProtKB: Q9HCE93   

Export aliases for ANO8 gene to outside databases

Previous GC identifers: GC19M017299 GC19M017000


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

UniProtKB/Swiss-Prot: ANO8_HUMAN, Q9HCE9
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000019.9  NC_018930.1  NT_011295.11  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANO8 gene promoter:
         E2F-4   E2F-3a   E2F-5   Olf-1   Nkx2-5   E2F-2   E2F   E2F-1   FOXO1a   FOXO1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANO8 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANO8

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANO8


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

Entrez Gene cytogenetic band: 19p13.11   Ensembl cytogenetic band:  19p13.11   HGNC cytogenetic band: 19p13.12

ANO8 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANO8 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M017434:  view genomic region     (about GC identifiers)

Start:
17,434,032 bp from pter      End:
17,445,638 bp from pter
Size:
11,607 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: ANO8_HUMAN, Q9HCE9 (See protein sequence)
Recommended Name: Anoctamin-8  
Size: 1232 amino acids; 136034 Da
Subcellular location: Cell membrane; Multi-pass membrane protein. Note=Shows predominantly an intracellular
localization with a weak expression in the cell membrane
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=BAB13449.2; Type=Erroneous initiation; Note=Translation N-terminally shortened;
Secondary accessions: A6NIJ0
Alternative splicing: 2 isoforms:  Q9HCE9-1   Q9HCE9-2   

Explore the universe of human proteins at neXtProt for ANO8: NX_Q9HCE9

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9HCE9

  • 2 DME Specific Peptides for ANO8 (Q9HCE9)
     GATSSLA  ARPDGTP 

    ANO8 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_066010.1  
    ENSEMBL proteins: 
     ENSP00000159087  
    Reactome Protein details: Q9HCE9
    Human Recombinant Protein Products: 
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    Uscn Proteins for ANO8

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular IEA--
    GO:0005886plasma membrane IEA--
    GO:0016021integral to membrane IEA--
    GO:0034707chloride channel complex ----


    ANO8 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ANO8 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007632 Anoctamin

    Graphical View of Domain Structure for InterPro Entry Q9HCE9

    ProtoNet protein and cluster: Q9HCE9

    UniProtKB/Swiss-Prot: ANO8_HUMAN, Q9HCE9
    Similarity: Belongs to the anoctamin family


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: ANO8_HUMAN, Q9HCE9
    Function: Does not exhibit calcium-activated chloride channel (CaCC) activity

    Enzyme Numbers (IUBMB): EC 5.4.2.102 EC 6.1.12

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    hsa-miR-448 hsa-miR-137 hsa-miR-520d-5p hsa-miR-25 hsa-miR-7-1* hsa-miR-548x hsa-miR-1208 hsa-miR-33b
    SwitchGear 3'UTR luciferase reporter plasmidANO8 3' UTR sequence
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005229NOT intracellular calcium activated chloride channel activity IDA--
    GO:0005254chloride channel activity ----


    ANO8 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Ion channel transport
    Ion channel transport1.00
    Stimuli-sensing channels0.49
    2SLC-mediated transmembrane transport
    Transmembrane transport of small molecules0.50

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    3        Reactome Pathways for ANO8
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    ANO8 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ANO8

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

    2 Interacting proteins for ANO8 (Q9HCE93 ENSP000001590874) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COQ9O752083, ENSP000002625074I2D: score=3 STRING: ENSP00000262507
    APCP250543I2D: score=1 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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

    Browse Tocris compounds for ANO8

    2 HMDB Compounds for ANO8    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--
    ChlorineCl2 (see all 13)16887-00-6--
    Search CenterWatch for drugs/clinical trials and news about ANO8 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    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, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ANO8 gene: 
    NM_020959.2  

    Unigene Cluster for ANO8:

    Anoctamin 8
    Hs.590990  [show with all ESTs]
    Unigene Representative Sequence: BC037307
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000159087(uc002ngf.2 uc010eap.2)

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    hsa-miR-448 hsa-miR-137 hsa-miR-520d-5p hsa-miR-25 hsa-miR-7-1* hsa-miR-548x hsa-miR-1208 hsa-miR-33b
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    Inhib. RNA
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      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ANO8

    Additional cDNA sequence: 

    AB046843.2 BC037307.1 

    5 DOTS entries:

    DT.91732791  DT.446827  DT.95242677  DT.100805542  DT.121465064 

    19 AceView cDNA sequences:

    CR616031 AB046843 BX444991 BC037307 BX419957 BU159689 BQ941716 BX444990 
    BI054298 BX282591 BI548250 BF945362 AI860149 AW090503 BF957825 BU192457 
    BF363458 AW151476 BF852719 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ANO8    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11
    SP1:                                                                        
    SP2:                    -                                                   
    SP3:                                                                        
    SP4:                                                                        


    ECgene alternative splicing isoforms for ANO8

    (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

    ANO8 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCGGGCCCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ANO8 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ANO8 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANO8

    SOURCE GeneReport for Unigene cluster: Hs.590990

    UniProtKB/Swiss-Prot: ANO8_HUMAN, Q9HCE9
    Tissue specificity: Expressed in embryonic stem cells, fetal brain and neural tissues

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANO8

    (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 eukaryotes.

    Orthologs for ANO8 gene from 7/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ano81 , 5 anoctamin 81, 5 82.15(n)1
    88.32(a)1
      8 (34.43 cM)5
    3820141  NM_001164679.11  NP_001158151.11 
     714760235 
    chicken
    (Gallus gallus)
    Aves ANO81 anoctamin 8 72.99(n)
    72.37(a)
      429912  XM_427467.3  XP_427467.3 
    zebrafish
    (Danio rerio)
    Actinopterygii ano81 anoctamin 8 66.12(n)
    66.7(a)
      562782  XM_686156.5  XP_691248.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG152706
    --
    24(a)
    1 ↔ 1
    2L(15074776-15096915)
    worm
    (Caenorhabditis elegans)
    Secernentea anoh-21 Protein ANOH-2 49.01(n)
    45.26(a)
      178395  NM_182301.3  NP_872101.3 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G730206
    uncharacterized protein
    20(a)
    1 → many
    1(27469534-27473554)
    rice
    (Oryza sativa)
    Liliopsida --
    transmembrane protein 16K, putative, expressed
    21(a)
    1 → many
    1(29317147-29321524)


    ENSEMBL Gene Tree for ANO8 (if available)
    TreeFam Gene Tree for ANO8 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANO8 gene
    ANO92  ANO62  ANO22  ANO52  ANO12  ANO102  ANO42  ANO32  
    ANO72  

    ANO8 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/260 NCBI SNPs in ANO8 are shown (see all 260    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1157554451,2
    C,F,--17012047(+) GCTCGC/ACCGAG 1 -- us2k11Minor allele frequency- A:0.06WA 118
    rs129765131,2
    C--17012085(+) AACCTC/AGATTC 1 -- us2k11Minor allele frequency- A:0.00NA 2
    rs735119001,2
    C,--17012120(+) CTCTAG/AGGTTC 1 -- us2k12Minor allele frequency- A:0.05WA 120
    rs1139839441,2
    C,--17012467(+) CAAGCA/CCTGCT 1 -- int10--------
    rs340382101,2
    C--17012502(+) GCTGCC/TTAGAA 1 -- int11Minor allele frequency- T:0.00NA 2
    rs1115201471,2
    C,--17012727(+) GAGGTC/TAAGGC 1 -- int12Minor allele frequency- T:0.05WA 120
    rs1133752341,2
    C,--17013357(+) GGCATG/AGTGGC 4 -- us2k1 int11Minor allele frequency- A:0.50NA 2
    rs561036521,2
    F,--17013544(+) ATCCCC/TGTCTC 4 -- int1 us2k11Minor allele frequency- T:0.05WA 118
    rs1132763801,2
    C,--17013875(+) GCGCCG/TCCCGC 4 -- int1 us2k11Minor allele frequency- T:0.50NA 2
    rs1440962871,2
    --17433534(+) CCACCC/TCGTGT 2 -- ut31 int10--------

    HapMap Linkage Disequilibrium report for ANO8 (17434032 - 17445638 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ANO8
         2 CNVs: 67488 39226

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    (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.)
    About This Section

    ANO8 for disorders           About MalaCards

    ANO8 for disorders           About GeneDecksing

    OMIM gene information: 610216    OMIM disorders: --


    Export disorders for ANO8 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 ANO8 gene, integrated from 9 sources (see all 14):
    (articles sorted by number of sources associating them with ANO8)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Prediction of the coding sequences of unidentified human genes. XVIII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10997877)1, 2, 3 Nagase T.... Ohara O. (2000)
    2. Identification and characterization of TMEM16H gene in silico. (PubMed id 15647853)1, 2, 9 Katoh M. and Katoh M. (2005)
    3. Anoctamins are a family of Ca2+ activated Cl- channels. (PubMed id 22946059)2 Tian Y.... Kunzelmann K. (2012)
    4. The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age. (PubMed id 22302790)2 Winpenny J.P. and Gray M.A. (2012)
    5. The anoctamin family: TMEM16A and TMEM16B as calcium-activated chloride channels. (PubMed id 21984732)2 Scudieri P.... Galietta L.J. (2012)
    6. CFTR and TMEM16A are separate but functionally related Cl- channels. (PubMed id 22178883)2 Ousingsawat J....Kunzelmann K. (2011)
    7. Anoctamins. (PubMed id 21607626)2 Kunzelmann K.... Schreiber R. (2011)
    8. Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels? (PubMed id 21642943)2 Duran C. and Hartzell H.C. (2011)
    9. Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels. (PubMed id 19015192)1 Hartzell H.C....Qu Z. (2009)
    10. A human protein-protein interaction network: a resource for annotating the proteome. (PubMed id 16169070)1 Stelzl U.... Wanker E.E. (2005)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 57719 HGNC: 29329 AceView: KIAA1623 Ensembl:ENSG00000074855 euGenes: HUgn57719
    ECgene: ANO8 H-InvDB: ANO8

    (According to HUGE)
    About This Section
    HUGE: KIAA1623

    (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 ANO8 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 ANO8 gene:
    Search GeneIP for patents involving ANO8

    GeneCards and IP:
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