Details for: COCH

Gene ID: 1690

Symbol: COCH

Ensembl ID: ENSG00000100473

Description: cochlin

Associated with

Cells (max top 100)

(Marker Score score is uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 1.72
    Marker Score: 4309
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.59
    Marker Score: 1158
  • Cell Name: oocyte (CL0000023)
    Fold Change: 1.28
    Marker Score: 317
  • Cell Name: germ cell (CL0000586)
    Fold Change: 1.15
    Marker Score: 2006
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 1.14
    Marker Score: 4801
  • Cell Name: OFF retinal ganglion cell (CL4023033)
    Fold Change: 1.09
    Marker Score: 458
  • Cell Name: class switched memory B cell (CL0000972)
    Fold Change: 1.08
    Marker Score: 1015
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 1.07
    Marker Score: 705
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71809
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 48034
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30407
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.97
    Marker Score: 500
  • Cell Name: BEST4+ intestinal epithelial cell, human (CL4030026)
    Fold Change: 0.96
    Marker Score: 453.5
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2411
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.94
    Marker Score: 633
  • Cell Name: regular atrial cardiac myocyte (CL0002129)
    Fold Change: 0.93
    Marker Score: 3321
  • Cell Name: fast muscle cell (CL0000190)
    Fold Change: 0.93
    Marker Score: 281
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.91
    Marker Score: 366
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2734
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.91
    Marker Score: 5189.5
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.88
    Marker Score: 318
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5280
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.87
    Marker Score: 506
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.86
    Marker Score: 584
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 0.86
    Marker Score: 464
  • Cell Name: neuron (CL0000540)
    Fold Change: 0.85
    Marker Score: 3465
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.85
    Marker Score: 1025
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.83
    Marker Score: 1119
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.8
    Marker Score: 3346.5
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.78
    Marker Score: 1590
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: 0.77
    Marker Score: 1253
  • Cell Name: vip GABAergic cortical interneuron (CL4023016)
    Fold Change: 0.77
    Marker Score: 29152
  • Cell Name: early T lineage precursor (CL0002425)
    Fold Change: 0.77
    Marker Score: 586
  • Cell Name: Cajal-Retzius cell (CL0000695)
    Fold Change: 0.75
    Marker Score: 389
  • Cell Name: ON retinal ganglion cell (CL4023032)
    Fold Change: 0.75
    Marker Score: 205
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.75
    Marker Score: 25207
  • Cell Name: brush cell (CL0002204)
    Fold Change: 0.74
    Marker Score: 674
  • Cell Name: precursor B cell (CL0000817)
    Fold Change: 0.72
    Marker Score: 475
  • Cell Name: mature astrocyte (CL0002627)
    Fold Change: 0.71
    Marker Score: 464
  • Cell Name: caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.7
    Marker Score: 2718
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: 0.7
    Marker Score: 5982
  • Cell Name: sncg GABAergic cortical interneuron (CL4023015)
    Fold Change: 0.68
    Marker Score: 5244
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: 0.68
    Marker Score: 6490
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.68
    Marker Score: 174
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.66
    Marker Score: 1456.5
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.66
    Marker Score: 1393
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: 0.65
    Marker Score: 14459
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: 0.63
    Marker Score: 12496
  • Cell Name: oogonial cell (CL0000024)
    Fold Change: 0.61
    Marker Score: 879
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.61
    Marker Score: 9471
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: 0.58
    Marker Score: 183
  • Cell Name: erythroblast (CL0000765)
    Fold Change: 0.57
    Marker Score: 354
  • Cell Name: lens fiber cell (CL0011004)
    Fold Change: 0.57
    Marker Score: 179
  • Cell Name: intestinal enteroendocrine cell (CL1001516)
    Fold Change: 0.55
    Marker Score: 441
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.55
    Marker Score: 352
  • Cell Name: inhibitory interneuron (CL0000498)
    Fold Change: 0.55
    Marker Score: 2538
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 0.54
    Marker Score: 137
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 0.53
    Marker Score: 169
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 0.53
    Marker Score: 471
  • Cell Name: renal beta-intercalated cell (CL0002201)
    Fold Change: 0.51
    Marker Score: 162
  • Cell Name: erythroid progenitor cell (CL0000038)
    Fold Change: 0.51
    Marker Score: 530
  • Cell Name: fat cell (CL0000136)
    Fold Change: 0.48
    Marker Score: 271
  • Cell Name: epithelial cell of prostate (CL0002231)
    Fold Change: 0.48
    Marker Score: 336
  • Cell Name: mature microglial cell (CL0002629)
    Fold Change: 0.47
    Marker Score: 171
  • Cell Name: A2 amacrine cell (CL0004219)
    Fold Change: 0.45
    Marker Score: 144
  • Cell Name: plasmablast (CL0000980)
    Fold Change: 0.45
    Marker Score: 603
  • Cell Name: IgG memory B cell (CL0000979)
    Fold Change: 0.45
    Marker Score: 270
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.44
    Marker Score: 218
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 0.42
    Marker Score: 2541
  • Cell Name: lymphoid lineage restricted progenitor cell (CL0000838)
    Fold Change: 0.41
    Marker Score: 246
  • Cell Name: retina horizontal cell (CL0000745)
    Fold Change: 0.4
    Marker Score: 384
  • Cell Name: lymphocyte (CL0000542)
    Fold Change: 0.39
    Marker Score: 199
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.39
    Marker Score: 433
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: 0.39
    Marker Score: 162
  • Cell Name: CD4-positive, alpha-beta thymocyte (CL0000810)
    Fold Change: 0.39
    Marker Score: 217.5
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.38
    Marker Score: 3930
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: 0.38
    Marker Score: 3576
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: 0.38
    Marker Score: 13969.5
  • Cell Name: pro-B cell (CL0000826)
    Fold Change: 0.37
    Marker Score: 359
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 0.37
    Marker Score: 178
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.36
    Marker Score: 411
  • Cell Name: fraction A pre-pro B cell (CL0002045)
    Fold Change: 0.36
    Marker Score: 364
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 0.36
    Marker Score: 550
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 0.36
    Marker Score: 444
  • Cell Name: large pre-B-II cell (CL0000957)
    Fold Change: 0.35
    Marker Score: 955.5
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.35
    Marker Score: 347
  • Cell Name: GABAergic neuron (CL0000617)
    Fold Change: 0.35
    Marker Score: 1449
  • Cell Name: kidney proximal straight tubule epithelial cell (CL1000839)
    Fold Change: 0.34
    Marker Score: 790
  • Cell Name: retinal ganglion cell (CL0000740)
    Fold Change: 0.33
    Marker Score: 415
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 0.33
    Marker Score: 136
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 0.33
    Marker Score: 1932.5
  • Cell Name: epithelial cell of nephron (CL1000449)
    Fold Change: 0.32
    Marker Score: 678
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: 0.32
    Marker Score: 491
  • Cell Name: smooth muscle myoblast (CL0000514)
    Fold Change: 0.32
    Marker Score: 151
  • Cell Name: melanocyte (CL0000148)
    Fold Change: 0.32
    Marker Score: 128
  • Cell Name: oligodendrocyte (CL0000128)
    Fold Change: 0.31
    Marker Score: 752
  • Cell Name: slow muscle cell (CL0000189)
    Fold Change: 0.31
    Marker Score: 102
  • Cell Name: mesangial cell (CL0000650)
    Fold Change: 0.31
    Marker Score: 371
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 0.3
    Marker Score: 77
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 0.3
    Marker Score: 333

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Other Information

**Key characteristics** * COCH is a transmembrane protein with a molecular weight of approximately 140 kDa. * It is a member of the immunoglobulin superfamily. * The protein is highly expressed in skeletal muscle fibers, where it is involved in cell adhesion and signaling. * It is also expressed in other cell types, where it plays a role in cell migration, adhesion, and signaling. **Pathways and functions** * COCH is a key component of the ECM of the cochlea. * It helps to maintain the structural integrity of the cochlea and provides a scaffold for the placement of other proteins involved in hearing, such as hair cells. * It also plays a role in cell adhesion and migration, and may be involved in the development of cochlear tissue. * COCH is also involved in sensory perception of sound. * Mutations in the COCH gene have been linked to a number of hearing disorders, including Meniere's disease, tinnitus, and presbycusis. **Clinical significance** * COCH is a promising target for the treatment of hearing disorders. * Inhibition of COCH signaling has been shown to be effective in restoring hearing in animal models of hearing loss. * Clinical trials are currently underway to test the safety and efficacy of COCH inhibitors in humans.

Genular Protein ID: 2832013901

Symbol: COCH_HUMAN

Name: Cochlin

UniProtKB Accession Codes:

O43405 A8K9K9 D3DS84 Q96IU6

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 9 EPD 1 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 5 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 5 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 2 PDBsum 1 PRINTS 1 PRO 1 PROSITE 2 PROSITE-ProRule 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 2 Pumba 1 RNAct 1 RefSeq 2 SAM 1 SMART 2 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 TCDB 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9441737

Title: Mapping and characterization of a novel cochlear gene in human and in mouse: a positional candidate gene for a deafness disorder, DFNA9.

PubMed ID: 9441737

DOI: 10.1006/geno.1997.5067

PubMed ID: 12975309

Title: The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.

PubMed ID: 12975309

DOI: 10.1101/gr.1293003

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 12843317

Title: Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9.

PubMed ID: 12843317

DOI: 10.1136/jmg.40.7.479

PubMed ID: 17926100

Title: Cochlin isoforms and their interaction with CTL2 (SLC44A2) in the inner ear.

PubMed ID: 17926100

DOI: 10.1007/s10162-007-0099-2

PubMed ID: 21886777

Title: Cochlin induced TREK-1 co-expression and annexin A2 secretion: role in trabecular meshwork cell elongation and motility.

PubMed ID: 21886777

DOI: 10.1371/journal.pone.0023070

PubMed ID: 11574466

Title: NMR structure of the LCCL domain and implications for DFNA9 deafness disorder.

PubMed ID: 11574466

DOI: 10.1093/emboj/20.19.5347

PubMed ID: 9806553

Title: Mutations in a novel cochlear gene cause DFNA9, a human nonsyndromic deafness with vestibular dysfunction.

PubMed ID: 9806553

DOI: 10.1038/3118

PubMed ID: 9931344

Title: A Pro51Ser mutation in the COCH gene is associated with late onset autosomal dominant progressive sensorineural hearing loss with vestibular defects.

PubMed ID: 9931344

DOI: 10.1093/hmg/8.2.361

PubMed ID: 10400989

Title: High prevalence of symptoms of Meniere's disease in three families with a mutation in the COCH gene.

PubMed ID: 10400989

DOI: 10.1093/hmg/8.8.1425

PubMed ID: 11295836

Title: Identification of a novel COCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families.

PubMed ID: 11295836

DOI: 10.1002/humu.37

PubMed ID: 14512963

Title: 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

DOI: 10.1038/sj.ejhg.5201043

PubMed ID: 12928864

Title: Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin.

PubMed ID: 12928864

DOI: 10.1007/s00439-003-0992-7

PubMed ID: 16835921

Title: Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9).

PubMed ID: 16835921

DOI: 10.1002/ajmg.a.31354

PubMed ID: 17561763

Title: Phenotype description of a novel DFNA9/COCH mutation, I109T.

PubMed ID: 17561763

DOI: 10.1177/000348940711600506

PubMed ID: 18312449

Title: Novel mutations in the vWFA2 domain of COCH in two Chinese DFNA9 families.

PubMed ID: 18312449

DOI: 10.1111/j.1399-0004.2008.00972.x

PubMed ID: 22610276

Title: A novel COCH mutation associated with autosomal dominant nonsyndromic hearing loss disrupts the structural stability of the vWFA2 domain.

PubMed ID: 22610276

DOI: 10.1007/s00109-012-0911-2

PubMed ID: 22931125

Title: Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.

PubMed ID: 22931125

DOI: 10.1111/cge.12006

PubMed ID: 23993205

Title: Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.

PubMed ID: 23993205

DOI: 10.1016/j.ijporl.2013.07.031

PubMed ID: 25388789

Title: Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PubMed ID: 25388789

DOI: 10.1186/s12967-014-0311-1

PubMed ID: 29449721

Title: Bi-allelic inactivating variants in the COCH gene cause autosomal recessive prelingual hearing impairment.

PubMed ID: 29449721

DOI: 10.1038/s41431-017-0066-2

Sequence Information:

  • Length: 550
  • Mass: 59483
  • Checksum: 74D7D51290098B30
  • Sequence:
    • MSAAWIPALG LGVCLLLLPG PAGSEGAAPI AITCFTRGLD IRKEKADVLC PGGCPLEEFS 
VYGNIVYASV SSICGAAVHR GVISNSGGPV RVYSLPGREN YSSVDANGIQ SQMLSRWSAS 
FTVTKGKSST QEATGQAVST AHPPTGKRLK KTPEKKTGNK DCKADIAFLI DGSFNIGQRR 
FNLQKNFVGK VALMLGIGTE GPHVGLVQAS EHPKIEFYLK NFTSAKDVLF AIKEVGFRGG 
NSNTGKALKH TAQKFFTVDA GVRKGIPKVV VVFIDGWPSD DIEEAGIVAR EFGVNVFIVS 
VAKPIPEELG MVQDVTFVDK AVCRNNGFFS YHMPNWFGTT KYVKPLVQKL CTHEQMMCSK 
TCYNSVNIAF LIDGSSSVGD SNFRLMLEFV SNIAKTFEIS DIGAKIAAVQ FTYDQRTEFS 
FTDYSTKENV LAVIRNIRYM SGGTATGDAI SFTVRNVFGP IRESPNKNFL VIVTDGQSYD 
DVQGPAAAAH DAGITIFSVG VAWAPLDDLK DMASKPKESH AFFTREFTGL EPIVSDVIRG 
ICRDFLESQQ

Genular Protein ID: 1711900074

Symbol: A0A2U3TZE7_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A2U3TZE7

Database IDs:

ARBA 2 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 CDD 2 CTD 1 ChiTaRS 1 DNASU 1 EMBL 1 EPD 1 Ensembl 2 ExpressionAtlas 1 Gene3D 2 GeneTree 1 HGNC 1 InterPro 4 MassIVE 1 MaxQB 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PRINTS 1 PROSITE 4 Pfam 2 Proteomes 2 RefSeq 2 SAM 2 SMART 2 SMR 1 SUPFAM 2 VEuPathDB 1

Citations:

PubMed ID: 12508121

Title: The DNA sequence and analysis of human chromosome 14.

PubMed ID: 12508121

DOI: 10.1038/nature01348

Sequence Information:

  • Length: 615
  • Mass: 66300
  • Checksum: C247A1BE46E30DBA
  • Sequence:
    • MSAAWIPALG LGVCLLLLPG PAGSEGAGEW GSWGASRRSQ GLSTSGYKRD SDPAPWASAL 
PPEEEGAKVE PPRGAPALTP AADLLLLTCF SHAPIAITCF TRGLDIRKEK ADVLCPGGCP 
LEEFSVYGNI VYASVSSICG AAVHRGVISN SGGPVRVYSL PGRENYSSVD ANGIQSQMLS 
RWSASFTVTK GKSSTQEATG QAVSTAHPPT GKRLKKTPEK KTGNKDCKAD IAFLIDGSFN 
IGQRRFNLQK NFVGKVALML GIGTEGPHVG LVQASEHPKI EFYLKNFTSA KDVLFAIKEV 
GFRGGNSNTG KALKHTAQKF FTVDAGVRKG IPKVVVVFID GWPSDDIEEA GIVAREFGVN 
VFIVSVAKPI PEELGMVQDV TFVDKAVCRN NGFFSYHMPN WFGTTKYVKP LVQKLCTHEQ 
MMCSKTCYNS VNIAFLIDGS SSVGDSNFRL MLEFVSNIAK TFEISDIGAK IAAVQFTYDQ 
RTEFSFTDYS TKENVLAVIR NIRYMSGGTA TGDAISFTVR NVFGPIRESP NKNFLVIVTD 
GQSYDDVQGP AAAAHDAGIT IFSVGVAWAP LDDLKDMASK PKESHAFFTR EFTGLEPIVS 
DVIRGICRDF LESQQ

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. For the full schema, download it here.