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OTOGL Gene

protein-coding   GIFtS: 38
GCID: GC12P080603

Otogelin-Like

(Previous name: chromosome 12 open reading frame 64)
(Previous symbol: C12orf64)
  See 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
otogelin-like1 2
C12orf641 2 3 5
DFNB84B2 5
Chromosome 12 Open Reading Frame 641
Otogelin-Like Protein2

External Ids:    HGNC: 269011   Entrez Gene: 2833102   Ensembl: ENSG000001658997   OMIM: 6149255   UniProtKB: Q3ZCN53   

Export aliases for OTOGL gene to outside databases


(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 OTOGL Gene:
The protein encoded by this gene belongs to the otogelin family. This gene is expressed in the inner ear of
vertebrates with the highest level of expression seen at the embryonic stage and lowest in adult. Knockdown
studies in zebrafish suggest that this gene is essential for normal inner ear function. Mutations in this gene
are associated with autosomal recessive deafness. (provided by RefSeq, Dec 2012)

GeneCards Summary for OTOGL Gene:
OTOGL (otogelin-like) is a protein-coding gene. Diseases associated with OTOGL include deafness, autosomal recessive 84b, and deafness, autosomal recessive 76. GO annotations related to this gene include alpha-L-arabinofuranosidase activity. An important paralog of this gene is MUC5AC.




(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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Regulatory elements:
   Search for regulatory transcription factor binding sites for OTOGL
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for OTOGL

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


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

Entrez Gene cytogenetic band: 12q21.31   Ensembl cytogenetic band:  12q21.31   HGNC cytogenetic band: 12q21.31

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

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P080603:  view genomic region     (about GC identifiers)

Start:
80,603,233 bp from pter      End:
80,772,870 bp from pter
Size:
169,638 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: OTOGL_HUMAN, Q3ZCN5 (See protein sequence)
Recommended Name: Otogelin-like protein precursor  
Size: 2332 amino acids; 262091 Da
Sequence caution: Sequence=BAC04877.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=BAC11376.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: F8W0C3 Q495U8 Q8N8G5 Q8NC28

Explore the universe of human proteins at neXtProt for OTOGL: NX_Q3ZCN5

Explore proteomics data for OTOGL at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn135, Asn425, Asn464, Asn817, Asn867, Asn1280, Asn1583, Asn2177

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

    REFSEQ proteins: NP_775862.3  
    ENSEMBL proteins: 
     ENSP00000447211   ENSP00000298820   ENSP00000449094   ENSP00000449296   ENSP00000449641  
     ENSP00000400895  

    OTOGL Human Recombinant Protein Products:

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    LSBio Antibodies in human, mouse, rat for OTOGL

    OTOGL Assay Products:

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    Cloud-Clone Corp. CLIAs for OTOGL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR014853 Unchr_dom_Cys-rich
     IPR007934 AbfB
     IPR006207 Cys_knot_C
     IPR002919 TIL_dom
     IPR001846 VWF_type-D

    Graphical View of Domain Structure for InterPro Entry Q3ZCN5

    ProtoNet protein and cluster: Q3ZCN5

    1 Blocks protein domain: IPB006207 Cystine knot

    UniProtKB/Swiss-Prot: OTOGL_HUMAN, Q3ZCN5
    Similarity: Belongs to the otogelin family
    Similarity: Contains 1 CTCK (C-terminal cystine knot-like) domain
    Similarity: Contains 2 TIL (trypsin inhibitory-like) domains
    Similarity: Contains 4 VWFD domains


    OTOGL for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046556alpha-L-arabinofuranosidase activity IEA--
         
    OTOGL for ontologies           About GeneDecksing


    Animal Models:
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    miRNA
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    miRTarBase miRNAs that target OTOGL:
    hsa-mir-335-5p (MIRT018092)

    Block miRNA regulation of human, mouse, rat OTOGL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate OTOGL (see all 12):
    hsa-miR-3163 hsa-miR-181c hsa-miR-15a hsa-miR-181a hsa-miR-497 hsa-miR-181d hsa-miR-424 hsa-miR-195
    SwitchGear 3'UTR luciferase reporter plasmidOTOGL 3' UTR sequence
    Inhib. RNA
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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
    OTOGL_HUMAN, Q3ZCN5: Secreted (Potential)

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--

    OTOGL for ontologies           About GeneDecksing


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

        Search GeneGlobe Interaction Network for OTOGL

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0046373L-arabinose metabolic process IEA--

    OTOGL for ontologies           About GeneDecksing



    (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 OTOGL



    (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,
    Conferences by KenesGroup, 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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for OTOGL gene: 
    NM_173591.3  

    6 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547103 ENST00000298820 ENST00000546620(uc021rba.1 uc009zsg.2)
    ENST00000551340 ENST00000550182 ENST00000458043(uc001szd.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat OTOGL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate OTOGL (see all 12):
    hsa-miR-3163 hsa-miR-181c hsa-miR-15a hsa-miR-181a hsa-miR-497 hsa-miR-181d hsa-miR-424 hsa-miR-195
    SwitchGear 3'UTR luciferase reporter plasmidOTOGL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat OTOGL
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    OriGene ORF clones in mouse, rat for OTOGL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: OTOGL (NM_173591)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for OTOGL
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat OTOGL
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for OTOGL
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat OTOGL
      QuantiTect SYBR Green Assays in human, mouse, rat OTOGL
      QuantiFast Probe-based Assays in human, mouse, rat OTOGL

    14 AceView cDNA sequences:

    BX107089 BF195945 AI521692 NM_173591 CA952597 AK075060 BM793455 AK096852 
    BE874953 CA952802 AI984824 BI495850 BI495851 BM829684 

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

    OTOGL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    OTOGL Protein Expression

    UniProtKB/Swiss-Prot: OTOGL_HUMAN, Q3ZCN5
    Tissue specificity: Expressed at high levels in fetal inner ear and heart. Low levels in fetal skeletal muscle,
    kidney, spleen and colon. Not detected in fetal liver, lung, brain, nor in fetal stomach. In adult tissues,
    highest levels in brain, kidney, heart and retina. Relatively low levels in lung, spleen and duodenum. Not
    detected in adult skeletal muscle, liver, nor testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for OTOGL

    (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 chordates.

    Orthologs for OTOGL gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Otogl1 , 5 otogelin-like1, 5 84.62(n)1
    87.48(a)1
      10 (56.11 cM)5
    6288701  NM_001177567.11  NP_001171038.11 
     1077622235 
    chicken
    (Gallus gallus)
    Aves OTOGL1 otogelin-like 72.9(n)
    69.04(a)
      772154  XM_001235329.3  XP_001235330.3 
    lizard
    (Anolis carolinensis)
    Reptilia OTOGL6
    otogelin-like
    68(a)
    1 ↔ 1
    5(37191889-37289659)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia otogl1 otogelin-like 69.17(n)
    65.81(a)
      100491199  XM_002931630.2  XP_002931676.2 
    zebrafish
    (Danio rerio)
    Actinopterygii otogl1 otogelin-like 59.51(n)
    55.13(a)
      555569  XM_678120.6  XP_683212.6 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for OTOGL gene
    MUC5AC2  ZAN2  TECTA2  MUC22  OTOG2  MUC62  MUC192  FCGBP2  
    VWF2  BMPER2  
    1 SIMAP similar gene for OTOGL using alignment to 6 protein entries:     OTOGL_HUMAN (see all proteins):
    OTOG

    OTOGL for paralogs           About GeneDecksing



    (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 OTOGL (see all 3596)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0383884
    A breast cancer sample4--see VAR_0383882 C F mis40--------
    rs1510101321,2
    C--77671159(+) TCATT-/CTT   
      TTGGAC
    CTTTA
    1 -- int10--------
    rs604564361,2
    C--77671163(+) TCTTTTGGAC   
      CTTT
    /-
    AATTA
    1 -- int11Minor allele frequency- -:0.50NA 2
    rs573562631,2
    C--77676839(+) CACAC-/ACAC/ACAC
    ACACACACACAC
    TTCCC
    1 -- int11NA 2
    rs1114252431,2
    C--77684718(+) ATGAGGT/-CTTGC 1 -- int11Minor allele frequency- -:0.50CSA 2
    rs772758481,2
    C--77737376(-) ATATCA/GCCACC 1 -- int12Minor allele frequency- G:0.00NA 4
    rs1125941761,2
    C,F--77740562(+) AGAAGT/CGAACG 1 -- int13Minor allele frequency- C:0.05CSA WA NA 239
    rs128187501,2
    H--77745819(+) CGAACT/Cttttt 1 -- int14Minor allele frequency- C:0.00NS EA 414
    rs342938641,2
    C--77746615(+) GAGAA-/AGTT  
            
    AGAAA
    1 -- int10--------
    rs589174911,2
    C--77746617(+) GAAAGTTAG/-  
            
    AAACT
    1 -- int11Minor allele frequency- -:0.50NA 2

    HapMap Linkage Disequilibrium report for OTOGL (80603233 - 80772870 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 5 variations for OTOGL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2668723CNV Deletion23128226
    esv2665288CNV Deletion23128226
    nsv832469CNV Loss17160897
    nsv521152CNV Loss19592680
    nsv832468CNV Gain17160897

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614925   
    OMIM disorders: 614944  
    UniProtKB/Swiss-Prot: OTOGL_HUMAN, Q3ZCN5
  • Deafness, autosomal recessive, 84B (DFNB84B) [MIM:614944]: A form of non-syndromic deafness characterized
    by congenital, non-progressive, sensorineural, symmetric hearing loss. Vestibular hypofunction is rarely
    observed. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 7 diseases for OTOGL:    About MalaCards
    deafness, autosomal recessive 84b    deafness, autosomal recessive 76    sensorineural hearing loss    breast and colorectal cancer
    colorectal cancer    multiple myeloma    myeloma


    OTOGL for disorders           About GeneDecksing


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

    1. Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss. (PubMed id 23122586)1, 2 Yariz K.O.... Tekin M. (Am. J. Hum. Genet. 2012)
    2. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. The consensus coding sequences of human breast and colorectal cancers. (PubMed id 16959974)2 Sjoeblom T.... Velculescu V.E. (Science 2006)
    5. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)2 Scherer S.E.... Gibbs R.A. (Nature 2006)
    6. 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. (Genome Res. 2004)
    7. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)

    (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: 283310 HGNC: 26901 AceView: FLJ90579 Ensembl:ENSG00000165899 euGenes: HUgn283310
    ECgene: OTOGL H-InvDB: OTOGL

    (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 OTOGL 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 OTOGL gene:
    Search GeneIP for patents involving OTOGL

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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     Block miRNA regulation of human, mouse, rat OTOGL using miScript Target Protectors SeqTarget long-range PCR primers for resequencing OTOGL
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    GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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