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COCH Gene

protein-coding   GIFtS: 62
GCID: GC14P031343

Cochlin

(Previous names: coagulation factor C (Limulus polyphemus homolog); cochlin,...)
(Previous symbols: DFNA31, DFNA9)
  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
cochlin1 2     COCH5B22 3
DFNA91 2 5     DFNA311
Coagulation Factor C Homolog, Cochlin (Limulus Polyphemus)1 2     Coagulation Factor C (Limulus Polyphemus Homolog); Cochlin1
COCH-5B22 3     

External Ids:    HGNC: 21801   Entrez Gene: 16902   Ensembl: ENSG000001004737   OMIM: 6031965   UniProtKB: O434053   

Export aliases for COCH gene to outside databases

Previous GC identifers: GC14P028719 GC14P025131 GC14P029333 GC14P030413 GC14P011460


(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 COCH Gene:
The protein encoded by this gene is highly conserved in human, mouse, and chicken, showing 94% and 79% amino acid
identity of human to mouse and chicken sequences, respectively. Hybridization to this gene was detected in
spindle-shaped cells located along nerve fibers between the auditory ganglion and sensory epithelium. These cells
accompany neurites at the habenula perforata, the opening through which neurites extend to innervate hair cells.
This and the pattern of expression of this gene in chicken inner ear paralleled the histologic findings of
acidophilic deposits, consistent with mucopolysaccharide ground substance, in temporal bones from DFNA9
(autosomal dominant nonsyndromic sensorineural deafness 9) patients. Mutations that cause DFNA9 have been
reported in this gene. Alternative splicing results in multiple transcript variants encoding the same protein.
Additional splice variants encoding distinct isoforms have been described but their biological validities have
not been demonstrated. (provided by RefSeq, Oct 2008)

GeneCards Summary for COCH Gene:
COCH (cochlin) is a protein-coding gene. Diseases associated with COCH include dfna 9 nonsyndromic hearing loss and deafness, and autoimmune inner ear disease. An important paralog of this gene is VWA1.

UniProtKB/Swiss-Prot: COCH_HUMAN, O43405
Function: Plays a role in the control of cell shape and motility in the trabecular meshwork

Gene Wiki entry for COCH Gene


(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_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the COCH gene promoter:
         Sox5   LHX3b/Lhx3b   AML1a   Pax-5   Pax-6   FOXD1   CUTL1   HNF-1A   HNF-1   LHX3a/Lhx3a   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCOCH promoter sequence
   Search Chromatin IP Primers for COCH

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


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

Entrez Gene cytogenetic band: 14q11.2-q13   Ensembl cytogenetic band:  14q12   HGNC cytogenetic band: 14q11.2-q13

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P031343:  view genomic region     (about GC identifiers)

Start:
31,343,720 bp from pter      End:
31,364,271 bp from pter
Size:
20,552 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, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: COCH_HUMAN, O43405 (See protein sequence)
Recommended Name: Cochlin precursor  
Size: 550 amino acids; 59483 Da
Subunit: Interacts with SLC44A2. Interacts with ANXA2
1 PDB 3D structure from and Proteopedia for COCH:
1JBI (3D)    
Secondary accessions: A8K9K9 D3DS84

Explore the universe of human proteins at neXtProt for COCH: NX_O43405

Explore proteomics data for COCH at MOPED

Post-translational modifications: 

  • N-glycosylated1
  • A 50 kDa form is created by proteolytic cleavage1
  • Glycosylation2 at Asn100, Thr124, Ser139, Thr140, Thr145, Asn221, Thr257
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001128530.1  NP_004077.1  

    ENSEMBL proteins: 
     ENSP00000216361   ENSP00000452343   ENSP00000379862   ENSP00000451528   ENSP00000452541  
     ENSP00000452569   ENSP00000451713   ENSP00000451629   ENSP00000452284   ENSP00000371933  

    COCH Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    Novus Biologicals COCH Protein
    Novus Biologicals COCH Lysate
    Sino Biological Recombinant Protein for COCH
    Sino Biological Cell Lysate for COCH
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    Cloud-Clone Corp. Proteins for COCH

    COCH Antibody Products:

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    LSBio Antibodies in human, mouse, rat for COCH

    COCH Assay Products:

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    Cloud-Clone Corp. CLIAs for COCH


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR004043 LCCL
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry O43405

    ProtoNet protein and cluster: O43405

    2 Blocks protein domains:
    IPB002035 Von Willebrand factor type A domain signature
    IPB004043 LCCL domain


    UniProtKB/Swiss-Prot: COCH_HUMAN, O43405
    Similarity: Contains 1 LCCL domain
    Similarity: Contains 2 VWFA domains


    COCH 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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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: COCH_HUMAN, O43405
    Function: Plays a role in the control of cell shape and motility in the trabecular meshwork

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    COCH for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for COCH:
     Increased S DNA content  Synthetic lethal with c-Myc af 

         2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Coch):
     hearing/vestibular/ear  normal 

    COCH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cochtm1.1Stw for COCH

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for COCH
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for COCH

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for COCH
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for COCH

    miRNA
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    miRTarBase miRNAs that target COCH:
    hsa-mir-331-3p (MIRT043422), hsa-mir-192-5p (MIRT026238), hsa-mir-615-3p (MIRT039747), hsa-mir-215-5p (MIRT024817), hsa-mir-1301-3p (MIRT036032)

    Block miRNA regulation of human, mouse, rat COCH using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate COCH:
    hsa-miR-3163 hsa-miR-137 hsa-miR-4263 hsa-miR-1267 hsa-miR-3658 hsa-miR-489 hsa-miR-4302 hsa-miR-3121-3p
    SwitchGear 3'UTR luciferase reporter plasmidCOCH 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat COCH

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    Sino Biological Human cDNA Clone for COCH
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COCH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COCH

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COCH


    (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
    COCH_HUMAN, O43405: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    endoplasmic reticulum2
    golgi apparatus1
    lysosome1
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IEA--

    COCH 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 COCH
    Interactions:

        Search GeneGlobe Interaction Network for COCH

    STRING Interaction Network Preview (showing 3 interactants - click image to see more details)

    3 Interacting proteins for COCH (O434052, 3 ENSP000002163614) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL1A1P024522, 3, ENSP000002259644MINT-6796048 I2D: score=1 STRING: ENSP00000225964
    COL2A1P024582, 3, ENSP000003698894MINT-6796062 I2D: score=1 STRING: ENSP00000369889
    COL4A1P024622, 3, ENSP000003649794MINT-6796166 I2D: score=1 STRING: ENSP00000364979
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605sensory perception of sound IEA--
    GO:0008360regulation of cell shape IMP--

    COCH 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 COCH

    1 Novoseek inferred chemical compound relationship for COCH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cysteine 0 2 16261627 (2)



    COCH for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for COCH gene (2 alternative transcripts): 
    NM_001135058.1  NM_004086.2  

    Unigene Cluster for COCH:

    Coagulation factor C homolog, cochlin (Limulus polyphemus)
    Hs.21016  [show with all ESTs]
    Unigene Representative Sequence: NM_001135058
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555117 ENST00000216361 ENST00000553772 ENST00000396618(uc001wqr.2)
    ENST00000475087(uc001wqq.4) ENST00000556908 ENST00000555881 ENST00000460581(uc001wqp.2)
    ENST00000553833 ENST00000557065 ENST00000468826(uc001wqt.1) ENST00000382493

    miRNA
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    Block miRNA regulation of human, mouse, rat COCH using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate COCH:
    hsa-miR-3163 hsa-miR-137 hsa-miR-4263 hsa-miR-1267 hsa-miR-3658 hsa-miR-489 hsa-miR-4302 hsa-miR-3121-3p
    SwitchGear 3'UTR luciferase reporter plasmidCOCH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for COCH
    Predesigned siRNA for gene silencing in human, mouse, rat COCH
    Clone
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    OriGene clones in human, mouse for COCH (see all 13)
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    GenScript: all cDNA clones in your preferred vector (see all 2): COCH (NM_001135058)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for COCH
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat COCH
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for COCH
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat COCH
      QuantiTect SYBR Green Assays in human, mouse, rat COCH
      QuantiFast Probe-based Assays in human, mouse, rat COCH

    Additional mRNA sequence: 

    AF006740.1 AK123362.1 AK130273.1 AK292724.1 AY358900.1 BC000640.2 BC007230.1 BC018827.2 
    U09203.1 

    19 DOTS entries:

    DT.215769  DT.91810438  DT.91736056  DT.100708572  DT.95276067  DT.92424962  DT.99937247  DT.100661620 
    DT.100732556  DT.120794834  DT.75131276  DT.100650407  DT.100699817  DT.100775399  DT.95276066  DT.95359658 
    DT.100692422  DT.100719117  DT.99970948 

    Selected AceView cDNA sequences (see all 154):

    F01733 CR611655 BE259324 U09203 BM763613 AF006740 AY358900 CD676547 
    BC007230 AV717153 Z42204 CD679268 NM_004086 BX375927 BQ887456 BM847703 
    BQ941458 Z40241 BM763364 BU165034 AA663103 BQ002467 AA311438 CR614743 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for COCH (see all 11)    About this scheme

    ExUns: 1a · 1b · 1c ^ 2a · 2b · 2c · 2d · 2e · 2f ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b
    SP1:                    -     -           -           -     -     -                                               -                                 
    SP2:                                      -           -     -     -                                               -                                 
    SP3:                                            -     -     -     -                                               -                                 
    SP4:                    -     -           -           -     -     -           -     -                                                               
    SP5:                                      -           -     -     -     -     -     -                             -                                 


    ECgene alternative splicing isoforms for COCH

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


    COCH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Stem Cell line 5
     
     Pancreas (Endocrine System)
    COCH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    COCH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.21016

    UniProtKB/Swiss-Prot: COCH_HUMAN, O43405
    Tissue specificity: Expressed in inner ear structures; the cochlea and the vestibule

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for COCH

    (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 COCH gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Coch1 , 5 coagulation factor C homolog (Limulus polyphemus)1, 5 89.39(n)1
    94.36(a)1
      12 (22.11 cM)5
    128101  NM_007728.51  NP_031754.11 
     515933415 
    chicken
    (Gallus gallus)
    Aves COCH1 coagulation factor C homolog, cochlin (Limulus polyphemus) 76.52(n)
    80.11(a)
      395779  NM_204937.1  NP_990268.1 
    lizard
    (Anolis carolinensis)
    Reptilia COCH6
    cochlin
    78(a)
    1 ↔ 1
    2(57059875-57105625)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia coch1 cochlin 67.3(n)
    68(a)
      100497833  XM_004917272.1  XP_004917329.1 
    zebrafish
    (Danio rerio)
    Actinopterygii coch2 coagulation factor C homolog, cochlin (Limulus polyphemus) 74.27(n)   368851  AL914632.1 
    worm
    (Caenorhabditis elegans)
    Secernentea mup-46
    Protein MUP-4 (mup-4) mRNA, complete cds
    5(a)
    1 → many
    III(7479681-7489075) WBGene00003497


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for COCH gene
    VWA12  MATN42  COL14A12  MATN32  MATN22  VIT2  COL12A12  COL20A12  
    VWA22  MATN12  
    5 SIMAP similar genes for COCH using alignment to 9 protein entries:     COCH_HUMAN (see all proteins):
    COL21A1    VIT    COL6A5    COL6A6    MATN2

    COCH 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 COCH (see all 495)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0700344
    Deafness, autosomal dominant, 9 (DFNA9)4--see VAR_0700342 C Y mis40--------
    VAR_0085364
    Deafness, autosomal dominant, 9 (DFNA9)4--see VAR_0085362 W R mis40--------
    VAR_0171754
    Deafness, autosomal dominant, 9 (DFNA9)4--see VAR_0171752 A T mis40--------
    VAR_0085344
    Deafness, autosomal dominant, 9 (DFNA9)4--see VAR_0085342 G E mis40--------
    VAR_0085334
    Deafness, autosomal dominant, 9 (DFNA9)4--see VAR_0085332 V G mis40--------
    VAR_0085354
    Deafness, autosomal dominant, 9 (DFNA9)4--see VAR_0085352 I N mis40--------
    rs1219089321,2
    Cpathogenic112358180(+) CATTTA/G/TTAGAG 6 Y C F mis10--------
    rs1110331891,2
    Cprobable-non-pathogenic112346224(+) CCCTT-/TCCTCC 2 -- int10--------
    rs22395811,2
    Cuntested112346222(-) AGGAAA/GGGGAT 2 -- int1 trp32Minor allele frequency- G:0.46EA WA 1482
    rs2005227361,2
    --11461403(+) GCTGCC/TGGGGC 4 P L mis10--------

    HapMap Linkage Disequilibrium report for COCH (31343720 - 31364271 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for COCH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv901584CNV Loss21882294
    esv33189CNV Loss17666407
    nsv832762CNV Loss17160897
    nsv901581CNV Gain21882294

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

    Site Specific Mutation Identification with PCR Assays
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    (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: 603196   
    OMIM disorders: 601369  
    UniProtKB/Swiss-Prot: COCH_HUMAN, O43405
  • Deafness, autosomal dominant, 9 (DFNA9) [MIM:601369]: A form of non-syndromic hearing loss characterized
    by onset in the fourth or fifth decade of life and initially involves the high frequencies. Hearing loss is
    progressive and usually complete by the sixth decade. In addition to cochlear involvement, DFNA9 patients also
    exhibit a spectrum of vestibular dysfunctions. Penetrance of the vestibular symptoms is often incomplete, and
    some patients are minimally affected, whereas others suffer from severe balance disturbances and episodes of
    vertigo. Affected individuals have mucopolysaccharide depositions in the channels of the cochlear and vestibular
    nerves. These depositions apparently cause strangulation and degeneration of dendritic fibers. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for COCH (see all 27):    
    About MalaCards
    dfna 9 nonsyndromic hearing loss and deafness    autoimmune inner ear disease    meniere's disease    perilymphatic fistula
    inner ear disease    deafness, autosomal dominant 9    chronic purulent otitis media    menieres disease
    usher syndrome, type 1f    open-angle glaucoma    nonsyndromic hearing loss and deafness, autosomal dominant    primary open angle glaucoma
    otitis media    sensorineural hearing loss    deafness and hereditary hearing loss    nonsyndromic hearing loss and deafness
    usher syndrome    deafness, autosomal dominant 4b    glaucoma    nonsyndromic deafness

    3 diseases from the University of Copenhagen DISEASES database for COCH:
    Sensorineural hearing loss     Meniere's disease     Nonsyndromic deafness

    COCH for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for COCH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vestibular disorder 78.8 10 11709536 (2), 11278165 (1), 14704763 (1), 14733925 (1) (see all 6)
    hearing loss sensorineural 78.2 12 16481359 (2), 10942145 (1), 10890144 (1), 14733925 (1) (see all 8)
    menieres disease 72 11 14704763 (2), 10400989 (2), 11278165 (1), 11698812 (1)
    deafness sensorineural 70.5 7 11709536 (2), 12843317 (1), 12928864 (1), 16374056 (1)
    aqueous humor 52.9 2 15862180 (1), 15579465 (1)
    primary open angle glaucoma 49.1 1 15579465 (1)
    glaucoma 45.7 9 16332271 (3), 15862180 (1), 16379021 (1), 17687037 (1) (see all 6)

    Human Genome Epidemiology (HuGE) Navigator: COCH (1 document)

    Export disorders for COCH 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 COCH gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with COCH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction. (PubMed id 9806553)1, 2, 3 Robertson N.G.... Seidman J.G. (Nat. Genet. 1998)
    2. Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9. (PubMed id 12843317)1, 2, 9 Robertson N.G.... Morton C.C. (J. Med. Genet. 2003)
    3. Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. (PubMed id 12928864)1, 2, 9 Grabski R....Sztul E. (Hum. Genet. 2003)
    4. Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear. (PubMed id 17926100)1, 2, 9 Kommareddi P.K.... Carey T.E. (J. Assoc. Res. Otolaryngol. 2007)
    5. A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects. (PubMed id 9931344)1, 2, 9 de Kok Y.J.M.... Cremers F.P.M. (Hum. Mol. Genet. 1999)
    6. High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene. (PubMed id 10400989)1, 2, 9 Fransen E.... Van Camp G. (Hum. Mol. Genet. 1999)
    7. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. (PubMed id 11295836)1, 2, 9 Kamarinos M.... Dahl H.-H.M. (Hum. Mutat. 2001)
    8. NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. (PubMed id 11574466)1, 2, 9 Liepinsh E.... Otting G. (EMBO J. 2001)
    9. Whole exome sequencing identifies a novel DFNA9 mutation, C162Y. (PubMed id 22931125)1, 2 Gao J....Liu Y. (Clin. Genet. 2013)
    10. Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility. (PubMed id 21886777)1, 2 Goel M.... Bhattacharya S.K. (PLoS ONE 2011)

    (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: 1690 HGNC: 2180 AceView: COCH Ensembl:ENSG00000100473 euGenes: HUgn1690
    ECgene: COCH H-InvDB: COCH

    (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 COCH Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for COCH Genetics and Cytogenetics in Oncology and Haematology
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/004
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=COCH[genesymbol]
    SeattleSNPshttp://pga.gs.washington.edu/data/coch/

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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