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COCH Gene

protein-coding   GIFtS: 60

GC14P011460
coagulation factor C homolog, cochlin (Limulus polyphemus)
(Previous name: coagulation factor C (Limulus polyphemus homolog); cochlin )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbols: DFNA31, DFNA9)
Products    

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

Aliases & Descriptions
coagulation factor C homolog, cochlin (Limulus polyphemus)1 2
COCH-5B21 2 3
COCH5B22 3
DFNA92 5
coagulation factor C (Limulus polyphemus homolog); cochlin1
cochlin2

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

Export aliases for COCH gene to outside databases

Previous GC identifers: GC14P028719 GC14P025131 GC14P029333 GC14P030413 GC14P031343


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

Entrez Gene summary for COCH:
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)

Gene Wiki entry for COCH

(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 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the COCH gene promoter:
         MEF-2A   FOXO3a   FOXO3b   FOXD1   FOXO4   SRY   FOXF2   RORalpha2   FOXO1a   FOXC1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for COCH

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for COCH 


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

Entrez Gene cytogenetic band: 14q12-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 gene densities for chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14P011460:  view genomic region     (about GC identifiers)

Start:
11,460,861 bp from pter
End:
11,476,943 bp from pter
Size:
16,083 bases
Orientation:
plus strand

1 alternative location:
Chr14+ 31,343,741-31,364,271     
RefSeq DNA sequence:
NC_000014.8  NT_026437.12  

(According to 1UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to 2Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: COCH_HUMAN, O43405 (See protein sequence)
Recommended Name: Cochlin precursor  
Size: 550 amino acids; 59483 Da
Subunit: Interacts with SLC44A2
Subcellular location: Secreted, extracellular space, extracellular matrix
PDB structures from and Proteopedia :
1JBI (3D)    
Secondary accessions: A8K9K9

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

Post-translational modifications:

  • N-glycosylated1
  • A 50 kDa form is created by proteolytic cleavage1


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


    ENSEMBL proteins: 
    ENSP00000216361 ENSP00000379862 ENSP00000371933 


    Human Recombinant Proteins 
    Browse Purified and Recombinant Proteins at Millipore
    Browse Human Recombinant Proteins at Sigma-Aldrich
    R&D Systems Recombinant & Natural Proteins for COCH (Cochlin)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    GenScript Custom Purified and Recombinant Proteins Services for COCH 
    Novus Biologicals Protein for COCH
    Novus Biologicals Lysate for COCH
    Sino Biological Recombinant Protein for COCH
    Browse ProSpec Recombinant Proteins

    2 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576 extracellular region IEA--
    GO:0005578 proteinaceous extracellular matrix IEA--
    About this table

    COCH for ontologies           About GeneDecksing



    Antibodies for COCH: 
    Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse Antibodies at Sigma-Aldrich
    R&D Systems Antibodies for COCH (Cochlin)
    Browse OriGene Antibodies
    GenScript Superior Antibodies for COCH 
    Novus Biologicals Antibody for COCH
    Browse antibodies at Epitomics

    Assays for COCH: 
    Browse Kits and Assays available from Millipore
    Browse ELISAs at Sigma-Aldrich
    OriGene Custom Immunoassay Development 
    Browse OriGene Fluorogenic Cell Assay Kits 
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for COCH 
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for COCH 


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

    COCH for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR004043 LCCL
     IPR002035 VWF_A

    Graphical View of Domain Structure for InterPro Entry O43405

    ProtoNet protein and cluster: O43405

    2 Blocks protein families:
    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


    (According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
    shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
    About This Section

    Inhib.
    RNA:
        
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for COCH
    Sigma-Aldrich shRNA Panels and shRNA for COCH
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): COCH
    OriGene shRNA RFP (see all 2): COCH
    OriGene basic RS shRNA (see all 2): COCH
    OriGene siRNA (see all 2): COCH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of COCH 
    miRNA:Sigma-Aldrich microRNA Mimics for COCH
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of COCH 
    1 SABiosciences Assays for microRNA that regulate COCH:
    hsa-miR-137

    Gene
    Editing:
    Browse CompoZr Knockout ZFN at Sigma-Aldrich 

    Clones:Browse Clones for the Expression of Recombinant Proteins Available from Millipore
    Browse iPSC Reprogramming Factors at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: COCH
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): COCH
    OriGene untagged cDNA clones in CMV expression vector: COCH
    OriGene 3'-UTR clone (see all 2): COCH 
    Browse MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for COCH 
    Sino Biological Human cDNA Clone for COCH

    Cell
    Lines:
      
    GenScript Custom overexpressing Cell Line Services for COCH 

    1 Gene Ontology (GO) molecular function term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515 protein binding IEA--
    About this table

    COCH for ontologies           About GeneDecksing

    Animal Models: 2 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Coch):

    hearing/vestibular/earnormal

    COCH for phenotypes           About GeneDecksing


    (Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to 1UniProtKB, 2MINT, and/or 3STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
    About This Section

        SABiosciences Custom Pathway-Focused PCR Arrays for COCH 

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

    3 Interacting proteins for COCH (O434052) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    COL1A1P024522MINT-6796048
    COL2A1P024582MINT-6796062
    COL4A1P024622MINT-6796166
    About this table

    1 Gene Ontology (GO) biological process term (GO ID links to tree view):

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007605 sensory perception of sound IEA--
    About this table

    COCH for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
    About This Section

    COCH for compounds           About GeneDecksing

    Browse Small Molecules at Sigma-Aldrich
    Browse drugs & compounds from Enzo Life Sciences

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



    (GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    non coding RNAs according to RNAdb,
    ESTs according to GeneTide,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from Millipore,
    siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
    shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
    Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
    About This Section

    Inhib.
    RNA:
         
    Browse for Gene Knock-down Tools from Millipore
    Browse Nano Scale siRNA at Sigma-Aldrich
    Sigma-Aldrich esiRNA and siRNA for COCH
    Sigma-Aldrich shRNA Panels and shRNA for COCH
    OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): COCH
    OriGene shRNA RFP (see all 2): COCH
    OriGene basic RS shRNA (see all 2): COCH
    OriGene siRNA (see all 2): COCH
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of COCH 
    miRNA: Sigma-Aldrich microRNA Mimics for COCH
    Browse microRNA target validation systems at Sigma-Aldrich 
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of COCH 
    1 SABiosciences Assays for microRNA that regulate COCH:
    hsa-miR-137
    Clones: Browse FLAG tag genes at Sigma-Aldrich
    OriGene GFP tagged cDNA clones in CMV expression vector: COCH
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): COCH
    OriGene untagged cDNA clones in CMV expression vector: COCH
    OriGene 3'-UTR Clone (see all 2): COCH 
    Browse OriGene MicroRNA Expression Plasmids 
    GenScript Custom cDNA clone Services for COCH 
    Primers: OriGene genome-wide validated SYBR primer pairs: COCH
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for COCH: PPH08287A

    REFSEQ mRNAs for COCH gene (2 alternative transcripts): 

    NM_001135058.1  NM_004086.2  

    Additional cDNA sequence: 

    AF006740.1 AK123362.1 AK130273.1 AK292724.1 AY358900.1 BC000640.2 BC007230.1 BC018827.2 
    CR611655.1 CR614743.1 U09203.1 

    20 DOTS entries:

    DT.91810438  DT.215769  DT.91736056  DT.99937247  DT.100732556  DT.100708572  DT.95276067  DT.92424962 
    DT.100661620  DT.120794834  DT.75131276  DT.100650407  DT.100699817  DT.100775399  DT.312608  DT.95359658 
    DT.100692422  DT.100719117  DT.92425860  DT.99970948 

    24/154 AceView cDNA sequences (see all 154):

    BC007230 AY358900 U09203 BU165034 BX375927 AK130273 BM763613 Z42204 
    AA411944 AV709175 BE259324 AA311438 AW198224 AA663103 BQ887456 CR611655 
    NM_004086 CD679268 CR614743 CD676547 BQ002467 AV717153 BU159461 H47370 

    highest scoring ESTs for COCH:

    AF006740 AA016308 AA199816 AA203418 AA311438 AA411944 AA480780 AA626668 AA669336 AI669544 

    Unigene Cluster for COCH:

    Coagulation factor C homolog, cochlin (Limulus polyphemus)
    Hs.21016  [show with all ESTs]
    Unigene Representative Sequence: NM_001135058


    GeneLoc Exon Structure

    5/11 Alternative Splicing Database (ASD) splice patterns (SP) for COCH (see all 11)

    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:                                      -           -     -     -     -     -     -                             -                                 

    About this scheme

    ECgene alternative splicing isoforms for COCH
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000216361(uc001wqr.2 uc001wqp.2) ENST00000468826 ENST00000396618
    ENST00000468444 ENST00000460581 ENST00000382493(uc001wqt.1) ENST00000475087(uc001wqq.3)


    (Experimental results according to 1GeneNote and GNF BioGPS,
    probe sets-to-genes annotations according to 2GeneAnnot , 3GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
    Primers from OriGene and/or SABiosciences )
    About This Section

    COCH expression in normal and diseased human tissues

    1  / 2  / 3

    5 probe-sets matching COCH gene

    Affymetrix
    probe-set
    Array  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    34190_at2, 3 U95-A 1 1.00 1.00 1.00 1.00 AF006740 1.00 1.00 1.00 1
    205229_s_at2, 3 U133-A 1 1.00 1.00 -- -- AA669336 0.80 1.00 0.91 1
    205229_s_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    1554242_a_at2 U133Plus2 1 1.00 1.00 -- -- -- -- -- -- --
    1554241_at2 U133Plus2 1 0.36 1.00 -- -- -- -- -- -- --
    About this table

    COCH for expression           About GeneDecksing

    Data from Genenote  (Publications) and GNF BioGPS
        About these images
    COCH gene expression
    COCH gene electronic northern expression
    COCH gene sage expression
    About these images

    CGAP SAGE TAG: CCTACTAAAT

    SOURCE GeneReport for Unigene cluster: Hs.21016

    Expression variation in blood from EXPOLDB for COCH

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

    Primers: OriGene genome-wide validated SYBR primer pairs: COCH
    Browse OriGene validated miRNA SYBR primer pairs 
    SABiosciences RT2 qPCR Primer Assay for COCH: PPH08287A
        SABiosciences Custom PCR Arrays for COCH 


    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD and/or 5MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
    About This Section

    Orthologs for COCH gene from 5/7 species (see all 7)
    Organism Gene Locus Description Human
    Similarity
    NCBI accessions
    dog
    (Canis familiaris)
    COCH1   -- coagulation factor C homolog, cochlin (Limulus polyphemus) 93.27(n)
    96(a)
    490640  XM_547762.2  XP_547762.2 
    chimpanzee
    (Pan troglodytes)
    COCH1   -- coagulation factor C homolog, cochlin (Limulus polyphemus) 99.76(n)
    100(a)
    452837  XM_001171019.1  XP_001171019.1 
    cow
    (Bos taurus)
    COCH1   -- coagulation factor C homolog, cochlin (Limulus polyphemus) 92.18(n)
    94.91(a)
    504316  XM_001252960.1  XP_001252961.1 
    rat
    (Rattus norvegicus)
    Coch1   -- coagulation factor C homolog, cochlin (Limulus polyphemus) 88.3(n)
    94.18(a)
    362735  XM_343058.3  XP_343059.3 
    mouse
    (Mus musculus)
    Coch1 , 5 12 (22.11 cM)5
    coagulation factor C homolog (Limulus polyphemus)1, 5 89.21(n)1
    94.36(a)1
    128101  NM_007728.31  NP_031754.11 
     AF0067415  AK0286905  (see all 12)
    About this table        Species with no ortholog for COCH

    ENSEMBL Gene Tree for COCH (if available)

    (Paralogs according to 1HomoloGene
    and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
    About This Section
    Paralogs for COCH gene
    MATN22  VIT2  MATN42  VWA22  MATN32  MATN12  

    COCH for paralogs           About GeneDecksing



    (SNPs according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
    About This Section

    10/256 NCBI SNPs in COCH are shown (see all 256)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 14 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs131221,2
    C,F,O,31359024(+) AAGAAA/TAAGTA 2 -- ut31 trp320Minor allele frequency- T:0.21MN NA NS EA WA 1320
    rs10456441,2
    C,F,H,31355096(+) GTGCAC/GTCATG 4 T S ref1 mis1 ese324Minor allele frequency- G:0.40MN NA NS EA WA 1650
    rs11082821,2
    C,F,31353247(-) GAGACT/GAGGGT 2 -- int120Minor allele frequency- G:0.20NA EA NS WA 1226
    rs11241791,2
    --31344373(+) CAAGCG/AGGACT 2 -- int11Minor allele frequency- A:0.00MN 184
    rs11241801,2
    C,F,O,31344483(+) TGCTCC/TTGCTC 2 -- int111Minor allele frequency- T:0.03EA NA NS MN 782
    rs11241811,2
    C,F,H,31346566(-) TAAAAC/GTCTAA 2 -- int134Minor allele frequency- N:0.00NS EA NA WA 1840
    rs15697921,2
    C,A,H,31344406(+) AGCCCG/TACCGC 2 -- int110Minor allele frequency- T:0.00MN NS EA NA 612
    rs18019631,2
    --31358938(+) TAGAAC/TCAATT 4 P S ref1 mis10--------
    rs20732041,2
    C,F,O,31358377(+) TTCCTT/CGCTTT 2 -- int119Minor allele frequency- C:0.21EA NA NS 2778
    rs20732051,2
    C,F,A,H,31358596(+) TGTTAA/CTGTGG 2 -- int115Minor allele frequency- C:0.50NS EA NA WA 726
    About this table

    HapMap Linkage Disequilibrium images for COCH (up to first 250kb)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for COCH
         1 CNV: 7031

    QIAGEN SeqTarget long-range PCR primers for resequencing COCH 

    (in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    COCH for disorders           About GeneDecksing

    OMIM: 603196   disorders: 601369  

    UniProtKB/Swiss-Prot: COCH_HUMAN, O43405

  • Defects in COCH are the cause of deafness autosomal dominant type 9 (DFNA9) [MIM:601369]. DFNA9 is a form of
  • sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the
    nerve pathways to the brain, or the area of the brain that receives sound information. DFNA9 is characterized by onset
    in the fourth or fifth decade of life and initially involves the high frequencies. Deafness 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

    7 Novoseek disease relationships for COCH gene

    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)
    About this table

    Locus Specific Mutation Databases (LSDB): COCH
    Human Gene Mutation Database (HGMD): COCH
    Human Genome Epidemiology (HuGE) Navigator: COCH (1 document)

    Export disorders and mutations for COCH gene to outside databases

    (Possibly Related Articles in Doctor's Guide)
    About This Section
      --

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6UniProtKB/TrEMBL, and/or 7Novoseek)
    About This Section

    10/75 PubMed articles for COCH gene, integrated from 7 sources (see all 75):
    (articles sorted by number of sources associating them with COCH)
    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. (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, 7 Robertson N.G.... Morton C.C. (2003)
    3. Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. (PubMed id 12928864)1, 2, 7 Grabski R....Sztul E. (2003)
    4. Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear. (PubMed id 17926100)1, 2, 7 Kommareddi P.K.... Carey T.E. (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, 7 de Kok Y.J.M.... Cremers F.P.M. (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, 7 Fransen E.... Van Camp G. (1999)
    7. Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families. (PubMed id 11295836)1, 2, 7 Kamarinos M.... Dahl H.-H.M. (2001)
    8. NMR structure of the LCCL domain and implications for DFNA9 deafness disorder. (PubMed id 11574466)1, 2, 7 Liepinsh E.... Otting G. (2001)
    9. Mutations in the COCH gene are a frequent cause of autosomal dominant progressive cochleo-vestibular dysfunction, but not of Meniere's disease. (PubMed id 14512963)1, 2 Usami S.... Van Camp G. (2003)
    10. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    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 ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for COCH Genetics and Cytogenetics in Oncology and Haematology
    Protein Spotlighthttp://www.expasy.org/spotlight/back_issues/sptlt004.shtml
    Hereditary hearing loss homepagehttp://webhost.ua.ac.be/hhh/
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COCH
    SeattleSNPshttp://pga.gs.washington.edu/data/coch/

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    Patent Information for COCH gene:
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