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

OTOP2 Gene

protein-coding   GIFtS: 45
GCID: GC17P072922

otopetrin 2

 Explore 2 diseases affiliated with
OTOP2 via our new
 Human Malady Compendium 
Biological research products
for OTOP2
    

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

Aliases
Otopetrin 21 2
Otopetrin-21

External Ids:    HGNC: 196571   Entrez Gene: 927362   Ensembl: ENSG000001830347   OMIM: 6078275   UniProtKB: Q7RTS63   

Export aliases for OTOP2 gene to outside databases

Previous GC identifers: GC17P073384 GC17P073517 GC17P070431 GC17P068330


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

  --

(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_000017.10  NC_018928.1  NT_010783.15  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the OTOP2 gene promoter:
         Nkx5-1   C/EBPalpha   CHOP-10   CREB   deltaCREB   FOXO1a   ZID   Pax-4a   FOXO1   Hlf   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidOTOP2 promoter sequence
   Search SABiosciences Chromatin IP Primers for OTOP2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat OTOP2


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

Entrez Gene cytogenetic band: 17q25.1   Ensembl cytogenetic band:  17q25.1   HGNC cytogenetic band: 17q25.3

OTOP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
OTOP2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P072922:  view genomic region     (about GC identifiers)

Start:
72,920,370 bp from pter      End:
72,930,007 bp from pter
Size:
9,638 bases      Orientation:
plus 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: OTOP2_HUMAN, Q7RTS6 (See protein sequence)
Recommended Name: Otopetrin-2  
Size: 562 amino acids; 62236 Da
Subcellular location: Membrane; Multi-pass membrane protein (Potential)

Explore the universe of human proteins at neXtProt for OTOP2: NX_Q7RTS6

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q7RTS6

  • OTOP2 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_835454.1  
    ENSEMBL proteins: 
     ENSP00000463837   ENSP00000332528  

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    Uscn Proteins for OTOP2

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0016021integral to membrane IEA--


    OTOP2 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

    OTOP2 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR004878 Otopetrin

    Graphical View of Domain Structure for InterPro Entry Q7RTS6

    ProtoNet protein and cluster: Q7RTS6

    UniProtKB/Swiss-Prot: OTOP2_HUMAN, Q7RTS6
    Similarity: Belongs to the otopetrin 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

    miRNA
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    (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



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for OTOP2

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

    5/44 Interacting proteins for OTOP2 (Q7RTS62 ENSP000003325284) via UniProtKB, MINT, STRING, and/or I2D (see all 44)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    AGO2Q9UKV82, ENSP000002205924MINT-6489217 STRING: ENSP00000220592
    AGO3Q9H9G72MINT-6489217
    ATP1A3P136372MINT-6489217
    C1QBPQ070212MINT-6489217
    CLNS1AP541052MINT-6489217
    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 OTOP2
    Search CenterWatch for drugs/clinical trials and news about OTOP2 

    (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,
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    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 OTOP2 gene: 
    NM_178160.2  

    Unigene Cluster for OTOP2:

    Otopetrin 2
    Hs.352515  [show with all ESTs]
    Unigene Representative Sequence: NM_178160
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000584711(uc002jmf.1) ENST00000580223 ENST00000331427(uc010wrp.2)


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    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for OTOP2 (see all 7)
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat OTOP2
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    Additional cDNA sequence: AK000063.1 

    2 DOTS entries:

    DT.97823595  DT.120908063 

    7 AceView cDNA sequences:

    BK000567 NM_178160 AW155641 BI828712 AK000063 BM466860 BQ326836 

    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™, 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

    OTOP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACGCTGTGT

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

    About this image
    See OTOP2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for OTOP2

    SOURCE GeneReport for Unigene cluster: Hs.352515
        SABiosciences Custom PCR Arrays for OTOP2
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOP2

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

    This gene was present in the common ancestor of animals.

    Orthologs for OTOP2 gene from 5/17 species (see all 17)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves OTOP21 otopetrin 2 66.42(n)
    62.43(a)
      422111  XM_003642368.1  XP_003642416.1 
    lizard
    (Anolis carolinensis)
    Reptilia OTOP26
    --
    --
    57(a)
    32(a)
    1 ↔ 1
    possible ortholog
    2(115118194-115125385)
    GL343239.1(175777-182945)
    zebrafish
    (Danio rerio)
    Actinopterygii otop21 otopetrin 2 56.76(n)
    47.3(a)
      494472  XM_001338043.3  XP_001338079.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG422656
    CG33326
    (see all 3)
    --
    8(a)
    14(a)
    (see all 3)
    many ↔ many
    many ↔ many
    (see all 3)
    X(5544600-5556875)
    2L(3275794-3280533)
    worm
    (Caenorhabditis elegans)
    Secernentea otpl-36
    otpl-16
    (see all 8)
    Protein OTPL-1
    (see all 8)
    17(a)
    15(a)
    (see all 8)
    many ↔ many
    many ↔ many
    (see all 8)
    X(6921607-6924411)
    IV(3572467-3577625)


    ENSEMBL Gene Tree for OTOP2 (if available)
    TreeFam Gene Tree for OTOP2 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for OTOP2 gene
    OTOP12  OTOP32  
    2 SIMAP similar genes for OTOP2 using alignment to 1 protein entry:     OTOP2_HUMAN:
    OTOP3    OTOP1

    OTOP2 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

    10/218 NCBI SNPs in OTOP2 are shown (see all 218    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1135654261,2
    F,--68328765(+) CCACCA/GTTGCT 1 -- int13Minor allele frequency- G:0.12CSA WA 122
    rs1127956051,2
    --68328840(+) TTTGGC/AGCCCT 1 -- int12Minor allele frequency- A:0.07CSA WA 120
    rs1118014141,2
    --68329263(+) CCTGTC/GTGCAG 1 -- int12Minor allele frequency- G:0.07CSA WA 120
    rs455629331,2
    C,F,--68329277(+) AAGGAG/AGCAGC 1 -- int11Minor allele frequency- A:0.02NA 120
    rs1117939961,2
    --68329578(+) GGGAGA/GGCGGC 1 -- ut511Minor allele frequency- G:0.00CSA 1
    rs1138378871,2
    C,--68330207(+) GTCCAA/GCGGAG 1 -- us2k12Minor allele frequency- G:0.24CSA WA 119
    rs739975671,2
    C,--68330602(+) AATTCA/GCCTTG 1 -- us2k12Minor allele frequency- G:0.09WA 120
    rs72240551,2
    C,F,H,--68331020(+) ACCTGG/AAGTTT 1 -- us2k19Minor allele frequency- A:0.01NS EA NA WA 1112
    rs777421631,2
    C,F,--68331212(+) CTGCAC/TGCTCA 1 -- us2k12Minor allele frequency- T:0.00NA EU 4681
    rs1896856161,2
    --72918544(+) CGCTGG/TGTGAC 2 -- int1 us2k10--------

    HapMap Linkage Disequilibrium report for OTOP2 (72920370 - 72930007 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for OTOP2: --

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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

    OTOP2 for disorders           About GeneDecksing

    OMIM gene information: 607827    OMIM disorders: --

    2 diseases for OTOP2:    About MalaCards
    vestibular disease    usher syndrome

    1 disease from the University of Copenhagen DISEASES database for OTOP2:
    Usher syndrome

    Export disorders for OTOP2 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 OTOP2 gene integrated from 9 sources:
    (articles sorted by number of sources associating them with OTOP2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Non-syndromic vestibular disorder with otoconial agenesis in tilted/mergulhador mice caused by mutations in otopetrin 1. (PubMed id 12651873)1, 2, 3 Hurle B.... Ornitz D.M. (2003)
    2. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (2006)
    3. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 92736 HGNC: 19657 AceView: OTOP2 Ensembl:ENSG00000183034 euGenes: HUgn92736
    ECgene: OTOP2 H-InvDB: OTOP2

    (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 OTOP2 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 OTOP2 gene:
    Search GeneIP for patents involving OTOP2

    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, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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    About This Section

     
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    GeneCards Homepage - Last full update: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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    VWF
    (GIFTS: 73)
    von Willebrand factor
    GIFtS Group
    The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z 


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