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

ANO4 Gene

protein-coding   GIFtS: 46
GCID: GC12P101111

anoctamin 4

(Previous name: transmembrane protein 16D )
(Previous symbol: TMEM16D)
  Search for ANO4
in our new
 Human Malady Compendium 
Biological research products
for ANO4
    

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

Aliases
Anoctamin 41 2     FLJ342211
TMEM16D1 2 3 5     FLJ352771
Transmembrane Protein 16D1 2 3     Anoctamin-41
FLJ342721 5     

External Ids:    HGNC: 238371   Entrez Gene: 1216012   Ensembl: ENSG000001515727   OMIM: 6101115   UniProtKB: Q32M453   

Export aliases for ANO4 gene to outside databases

Previous GC identifers: GC12P099712 GC12P101188 GC12P098249


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

UniProtKB/Swiss-Prot: ANO4_HUMAN, Q32M45
Function: Does not exhibit calcium-activated chloride channel (CaCC) activity (By similarity)




(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_000012.11  NC_018923.1  NT_029419.12  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ANO4 gene promoter:
         TBP   SREBP-1c   NF-AT   SREBP-1b   NF-AT4   SREBP-1a   NF-AT2   NF-AT3   Hlf   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidANO4 promoter sequence
   Search SABiosciences Chromatin IP Primers for ANO4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ANO4


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

Entrez Gene cytogenetic band: 12q23.1   Ensembl cytogenetic band:  12q23.1   HGNC cytogenetic band: 12q23.3

ANO4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ANO4 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P101111:  view genomic region     (about GC identifiers)

Start:
101,111,304 bp from pter      End:
101,522,419 bp from pter
Size:
411,116 bases      Orientation:
plus strand

1 alternative location:
Chr12-,PATCHES 101,636,113-101,654,350     

(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: ANO4_HUMAN, Q32M45 (See protein sequence)
Recommended Name: Anoctamin-4  
Size: 955 amino acids; 111462 Da
Subcellular location: Cell membrane; Multi-pass membrane protein. Note=Shows an intracellular localization (By
similarity)
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=BAC03688.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q8NAJ0 Q8NB39 Q8NB53
Alternative splicing: 3 isoforms:  Q32M45-1   Q32M45-2   Q32M45-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ANO4: NX_Q32M45

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q32M45

  • ANO4 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_849148.2  
    ENSEMBL proteins: 
     ENSP00000449116   ENSP00000447867   ENSP00000376705   ENSP00000376703   ENSP00000450192  
     ENSP00000443751   ENSP00000299222  
    Reactome Protein details: Q32M45
    Human Recombinant Protein Products: 
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    Uscn Proteins for ANO4

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

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


    ANO4 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

    ANO4 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR007632 Anoctamin

    Graphical View of Domain Structure for InterPro Entry Q32M45

    ProtoNet protein and cluster: Q32M45

    UniProtKB/Swiss-Prot: ANO4_HUMAN, Q32M45
    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: ANO4_HUMAN, Q32M45
    Function: Does not exhibit calcium-activated chloride channel (CaCC) activity (By similarity)

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    hsa-miR-30c hsa-miR-3607-3p hsa-miR-137 hsa-miR-300 hsa-miR-25 hsa-miR-30d hsa-miR-507 hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidANO4 3' UTR sequence
    Inhib. RNA
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    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005254chloride channel activity ----


    ANO4 for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for ANO4:
     Decreased viability with pacli 


    (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 ANO4
        Transmembrane transport of small molecules
    Stimuli-sensing channels
    Ion channel transport



    ANO4 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ANO4

    (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 ANO4

    2 HMDB Compounds for ANO4    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 ANO4 

    (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 ANO4 gene: 
    NM_178826.3  

    Unigene Cluster for ANO4:

    Anoctamin 4
    Hs.58785  [show with all ESTs]
    Unigene Representative Sequence: NM_178826
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000549155 ENST00000551148 ENST00000546991 ENST00000392979(uc001thw.2 uc010svm.1 uc001thx.2)
    ENST00000392977 ENST00000549234 ENST00000548940 ENST00000550015(uc001thy.2)
    ENST00000538618(uc010svl.1) ENST00000299222

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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ANO4
    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate ANO4 (see all 30):
    hsa-miR-30c hsa-miR-3607-3p hsa-miR-137 hsa-miR-300 hsa-miR-25 hsa-miR-30d hsa-miR-507 hsa-miR-548m
    SwitchGear 3'UTR luciferase reporter plasmidANO4 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ANO4 (see all 7)
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    Clone
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    Additional cDNA sequence: 

    AK091540.1 AK091591.1 AK092596.1 AK293810.1 AK302962.1 AK316105.1 BC109308.2 

    6 DOTS entries:

    DT.209412  DT.100748156  DT.121152386  DT.121152380  DT.121152420  DT.205807 

    24/37 AceView cDNA sequences (see all 37):

    AI093277 AX747621 NM_178826 AX747079 AK091591 BX105943 AI796421 BX281248 
    AX747046 AK091540 BF589515 AK092596 AI140598 BF939628 BI915289 W85930 
    AI669168 AI949760 AI078428 AW006706 AA669481 AA777662 BE552129 BE501692 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ANO4    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
    SP1:                    -     -                                                                             -                                                   
    SP2:                                                                                                                          -                                 
    SP3:                          -                                                                                                                                 
    SP4:                                                                                                                                                            

    ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
    SP1:                                          
    SP2:                                          
    SP3:                                          
    SP4:                                          


    ECgene alternative splicing isoforms for ANO4

    (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

    ANO4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCACCAAGAA

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

    About this image

    ANO4 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    KidneyInterstitial StromaKidney
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    PureStem™ myogenic progenitor Z11 (Embryonic Progenitor Cell)Heart, Myocardium, Smooth Muscle

    See ANO4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ANO4

    SOURCE GeneReport for Unigene cluster: Hs.58785
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ANO4

    (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 ANO4 gene from 7/23 species (see all 23)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ANO41 anoctamin 4 86.84(n)
    95.01(a)
      427878  XM_425452.3  XP_425452.3 
    lizard
    (Anolis carolinensis)
    Reptilia ANO46
    --
    94(a)
    1 ↔ 1
    5(28389112-28431986)
    rainbow trout
    (Oncorhynchus mykiss)
    Actinopterygii Omy.99602 Oncorhynchus mykiss transcribed sequence with weak more 74.68(n)    BX313732.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG69386
    --
    28(a)
    1 → many
    3L(11978006-11983605)
    worm
    (Caenorhabditis elegans)
    Secernentea anoh-16
    --
    20(a)
    possible ortholog
    III(13246477-13253514)
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT1G730206
    uncharacterized protein
    21(a)
    1 → many
    1(27469534-27473554)
    rice
    (Oryza sativa)
    Liliopsida --
    transmembrane protein 16K, putative, expressed
    20(a)
    1 → many
    1(29317147-29321524)


    ENSEMBL Gene Tree for ANO4 (if available)
    TreeFam Gene Tree for ANO4 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ANO4 gene
    ANO92  ANO62  ANO22  ANO52  ANO12  ANO102  ANO32  ANO82  
    ANO72  
    7 SIMAP similar genes for ANO4 using alignment to 4 protein entries:     ANO4_HUMAN (see all proteins):
    ANO3    ANO2    ANO5    ANO1    ANO9    ANO6
    ANO7

    ANO4 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

    10/5927 NCBI SNPs in ANO4 are shown (see all 5927    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1817131751,2
    --101186409(+) TAACTA/GGAATA 1 -- us2k10--------
    rs731476381,2
    C,F,--101186538(+) GAACCC/TGTTTC 1 -- us2k11Minor allele frequency- T:0.06NA 120
    rs796055531,2
    --101186551(+) CAACAA/GTATTA 1 -- us2k10--------
    rs174802731,2
    C,F,H,--101186553(+) ACAGTA/GTTAAT 1 -- us2k18Minor allele frequency- G:0.01NA NS EA 664
    rs779324721,2
    C--101186631(+) TTTTAC/GAGTGT 1 -- us2k10--------
    rs789608881,2
    C--101186632(+) TTTACA/GGTGTC 1 -- us2k10--------
    rs1846880311,2
    --101186699(+) TAATTC/TGATTT 1 -- us2k10--------
    rs1503164121,2
    --101186725(+) CATTTA/GTATTT 1 -- us2k10--------
    rs743486821,2
    C,F,--101186737(+) CTGAAT/GGGCTT 1 -- us2k11Minor allele frequency- G:0.04WA 118
    rs1378923541,2
    --101186744(+) GCTTCA/GGTTAT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ANO4 (101111304 - 101361304 bp, first 250kb of ANO4)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ANO4
         1 CNV: 101603
         1 Indel: 71548

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ANO4
    DNA2.0 Custom Variant and Variant Library Synthesis for ANO4

    (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

    ANO4 for disorders           About MalaCards

    ANO4 for disorders           About GeneDecksing

    OMIM gene information: 610111    OMIM disorders: --


    Export disorders for ANO4 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 ANO4 gene, integrated from 9 sources (see all 11):
    (articles sorted by number of sources associating them with ANO4)
        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, 3 Katoh M. and Katoh M. (2003)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    3. Identification and characterization of TMEM16E and TMEM16F genes in silico. (PubMed id 15067359)1, 3 Katoh M. and Katoh M. (2004)
    4. Anoctamins are a family of Ca2+ activated Cl- channels. (PubMed id 22946059)2 Tian Y.... Kunzelmann K. (2012)
    5. The anoctamin (TMEM16) gene family: calcium-activated chloride channels come of age. (PubMed id 22302790)2 Winpenny J.P. and Gray M.A. (2012)
    6. Anoctamins. (PubMed id 21607626)2 Kunzelmann K.... Schreiber R. (2011)
    7. Physiological roles and diseases of Tmem16/Anoctamin proteins: are they all chloride channels? (PubMed id 21642943)2 Duran C. and Hartzell H.C. (2011)
    8. Anoctamin/TMEM16 family members are Ca2+-activated Cl- channels. (PubMed id 19015192)1 Hartzell H.C....Qu Z. (2009)
    9. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 121601 HGNC: 23837 AceView: TMEM16D Ensembl:ENSG00000151572 euGenes: HUgn121601
    ECgene: ANO4 H-InvDB: ANO4

    (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 ANO4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ANO4 gene:
    Search GeneIP for patents involving ANO4

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