COCH (cochlin)

Gene

• Entrez ID: 1690
• Gene name: Cochlin
• Gene symbol: COCH
• Synonyms (NCBI Gene): COCH-5B2, COCH5B2, DFNA9, DFNB110
• Chromosome: 14
• Chromosome location: 14q12
• Summary: 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

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT024817	hsa-miR-215-5p	Microarray	19074876
MIRT026238	hsa-miR-192-5p	Microarray	19074876
MIRT043422	hsa-miR-331-3p	CLASH	23622248
MIRT039747	hsa-miR-615-3p	CLASH	23622248
MIRT039747	hsa-miR-615-3p	CLASH	23622248
MIRT036032	hsa-miR-1301-3p	CLASH	23622248
MIRT543812	hsa-miR-4282	PAR-CLIP	21572407
MIRT543811	hsa-miR-3121-3p	PAR-CLIP	21572407
MIRT233121	hsa-miR-4428	PAR-CLIP	21572407
MIRT233120	hsa-miR-3173-3p	PAR-CLIP	21572407
MIRT233122	hsa-miR-6891-5p	PAR-CLIP	21572407
MIRT543810	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT543809	hsa-miR-619-3p	PAR-CLIP	21572407
MIRT543808	hsa-miR-7851-3p	PAR-CLIP	21572407
MIRT543807	hsa-miR-3163	PAR-CLIP	21572407
MIRT543806	hsa-miR-539-5p	PAR-CLIP	21572407
MIRT543805	hsa-miR-185-5p	PAR-CLIP	21572407
MIRT543804	hsa-miR-4306	PAR-CLIP	21572407
MIRT543803	hsa-miR-4644	PAR-CLIP	21572407
MIRT543802	hsa-miR-4477b	PAR-CLIP	21572407
MIRT441661	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441660	hsa-miR-3164	PAR-CLIP	22100165
MIRT441658	hsa-miR-6820-3p	PAR-CLIP	22100165
MIRT441661	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441660	hsa-miR-3164	PAR-CLIP	22100165
MIRT441658	hsa-miR-6820-3p	PAR-CLIP	22100165
MIRT543812	hsa-miR-4282	PAR-CLIP	21572407
MIRT543811	hsa-miR-3121-3p	PAR-CLIP	21572407
MIRT233121	hsa-miR-4428	PAR-CLIP	21572407
MIRT233120	hsa-miR-3173-3p	PAR-CLIP	21572407
MIRT233122	hsa-miR-6891-5p	PAR-CLIP	21572407
MIRT543810	hsa-miR-5580-3p	PAR-CLIP	21572407
MIRT543809	hsa-miR-619-3p	PAR-CLIP	21572407
MIRT543808	hsa-miR-7851-3p	PAR-CLIP	21572407
MIRT543807	hsa-miR-3163	PAR-CLIP	21572407
MIRT543806	hsa-miR-539-5p	PAR-CLIP	21572407
MIRT543805	hsa-miR-185-5p	PAR-CLIP	21572407
MIRT543804	hsa-miR-4306	PAR-CLIP	21572407
MIRT543803	hsa-miR-4644	PAR-CLIP	21572407
MIRT543802	hsa-miR-4477b	PAR-CLIP	21572407
MIRT441661	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441660	hsa-miR-3164	PAR-CLIP	22100165
MIRT441658	hsa-miR-6820-3p	PAR-CLIP	22100165
MIRT441661	hsa-miR-1277-5p	PAR-CLIP	22100165
MIRT441660	hsa-miR-3164	PAR-CLIP	22100165
MIRT441658	hsa-miR-6820-3p	PAR-CLIP	22100165
MIRT902082	hsa-miR-133a	CLIP-seq
MIRT902083	hsa-miR-133b	CLIP-seq
MIRT902084	hsa-miR-153	CLIP-seq
MIRT902085	hsa-miR-3123	CLIP-seq
MIRT902086	hsa-miR-3140-3p	CLIP-seq
MIRT902087	hsa-miR-3925-5p	CLIP-seq
MIRT902088	hsa-miR-409-3p	CLIP-seq
MIRT902089	hsa-miR-448	CLIP-seq
MIRT902090	hsa-miR-4698	CLIP-seq
MIRT902091	hsa-miR-601	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	21886777, 32814053
GO:0005518	Function	Collagen binding	IDA	22610276
GO:0005576	Component	Extracellular region	IEA
GO:0007605	Process	Sensory perception of sound	IBA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	IEA
GO:0007605	Process	Sensory perception of sound	TAS	9806553
GO:0008360	Process	Regulation of cell shape	IMP	21886777
GO:0031012	Component	Extracellular matrix	IBA
GO:0031012	Component	Extracellular matrix	IDA	22610276
GO:0031012	Component	Extracellular matrix	IEA

Other IDs

• MIM: 603196
• HGNC: 2180
• e!Ensembl: ENSG00000100473

Protein

• UniProt ID: O43405
• Protein name: Cochlin (COCH-5B2)
• Protein function: Plays a role in the control of cell shape and motility in the trabecular meshwork.
• PDB: 1JBI
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF03815	LCCL	32 → 121	LCCL domain	Domain
  PF00092	VWA	165 → 344	von Willebrand factor type A domain	Domain
  PF00092	VWA	367 → 536	von Willebrand factor type A domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in inner ear structures; the cochlea and the vestibule.
• Sequence:

  MSAAWIPALGLGVCLLLLPGPAGSEGAAPIAITCFTRGLDIRKEKADVLCPGGCPLEEFS
  VYGNIVYASVSSICGAAVHRGVISNSGGPVRVYSLPGRENYSSVDANGIQSQMLSRWSAS
  FTVTKGKSSTQEATGQAVSTAHPPTGKRLKKTPEKKTGNKDCKADIAFLIDGSFNIGQRR
  FNLQKNFVGKVALMLGIGTEGPHVGLVQASEHPKIEFYLKNFTSAKDVLFAIKEVGFRGG
  NSNTGKALKHTAQKFFTVDAGVRKGIPKVVVVFIDGWPSDDIEEAGIVAREFGVNVFIVS
  VAKPIPEELGMVQDVTFVDKAVCRNNGFFSYHMPNWFGTTKYVKPLVQKLCTHEQMMCSK
  TCYNSVNIAFLIDGSSSVGDSNFRLMLEFVSNIAKTFEISDIGAKIAAVQFTYDQRTEFS
  FTDYSTKENVLAVIRNIRYMSGGTATGDAISFTVRNVFGPIRESPNKNFLVIVTDGQSYD
  DVQGPAAAAHDAGITIFSVGVAWAPLDDLKDMASKPKESHAFFTREFTGLEPIVSDVIRG
  ICRDFLESQQ

• Sequence length: 550

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Autosomal dominant nonsyndromic hearing loss 9	Pathogenic; Likely pathogenic	rs2138844314, rs121908927, rs121908929, rs28938175, rs121908930, rs121908932, rs121908934, rs878853226, rs2502716376, rs756790858	RCV001799529 RCV000006987 RCV000006989 RCV000006990 RCV000006991 RCV000006993 RCV000006994 RCV000006995 RCV000225026 RCV004369277 RCV004820853	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Bilateral sensorineural hearing impairment	Pathogenic	rs1213152015	RCV001730851	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing impairment	Likely pathogenic; Pathogenic	rs559481815, rs28938175	RCV001375471 RCV001375055	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Hearing loss, autosomal recessive 110	Likely pathogenic; Pathogenic	rs559481815, rs540895576, rs756790858, rs1895773215, rs1895769400	RCV004789558 RCV003447518 RCV000678208 RCV001089547 RCV001089642	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hereditary hearing loss and deafness	Likely pathogenic; Pathogenic	rs121908929	RCV004700196	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Nonsyndromic genetic hearing loss	Pathogenic	rs28938175	RCV000211754	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Prelingual sensorineural hearing impairment	Likely pathogenic	rs756790858	RCV000590999	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Rare genetic deafness	Pathogenic; Likely pathogenic	rs28938175, rs121908932, rs1555310861	RCV000844626 RCV000214849 RCV000605898	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT ISOLATED SENSORINEURAL DEAFNESS TYPE DFNA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COCH-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL HEARING DISORDER	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL DOMINANT 9	—	CTD, Disgenet, HPO CTD, Disgenet, HPO CTD, Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 110	—	Disgenet, HPO Disgenet, HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ESOPHAGEAL ADENOCARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEARING LOSS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTENSION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEPHROTIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonsyndromic Hearing Loss, Dominant	Likely benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SENSORINEURAL HEARING LOSS OF BILATERAL EARS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Usher syndrome	Uncertain significance	ClinVar Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Autosomal dominant non-syndromic sensorineural deafness type DFNA	Non-Syndromic Sensorineural Deafness	Orphanet			★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral Vestibulopathy	BEFREE	26758463		★☆☆☆☆ Found in Text Mining only
Bilateral Vestibulopathy	Bilateral vestibulopathy	Pubtator	34369417, 36607747	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	36607747	Associate	★☆☆☆☆ Found in Text Mining only
Deafness	Deafness	Pubtator	22534022, 23767834, 25230692, 29449721, 31390618, 31493294, 34529116	Associate	★☆☆☆☆ Found in Text Mining only
Deafness Autosomal Dominant 9	Deafness	Pubtator	28099493	Associate	★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 13	Deafness	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Deafness, Autosomal Dominant 9	Deafness	UNIPROT_DG	10400989, 11295836, 12928864, 14512963, 16835921, 17561763, 18312449, 22610276, 22931125, 23993205, 25388789, 9806553, 9931344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 9	Deafness	BEFREE	12324385, 12928864, 16151339, 16261627, 20228067, 21774451, 22610276, 26631968, 28099493		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 9	Deafness	CLINVAR_DG	16261627		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 9	Deafness	GENOMICS_ENGLAND_DG	26758463, 9931344		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Deafness, Autosomal Dominant 9	Deafness	CTD_human_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DEAFNESS, AUTOSOMAL RECESSIVE 2	Deafness	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Glaucoma	Glaucoma	BEFREE	17662637		★☆☆☆☆ Found in Text Mining only
Glaucoma, Primary Open Angle	Glaucoma	BEFREE	24063017		★☆☆☆☆ Found in Text Mining only
Hallopeau-Siemens Disease	DYSTROPHIC EPIDERMOLYSIS BULLOSA	BEFREE	29305555		★☆☆☆☆ Found in Text Mining only
Hearing Disorders	Headache	Pubtator	34369416	Associate	★☆☆☆☆ Found in Text Mining only
Hearing Loss	Hearing loss	Pubtator	21046548, 22610276, 25230692, 27023102, 28099493, 28116169, 28733840, 29449721, 32562050, 32939038, 34369416, 34369417, 34529116, 35063306, 36607747, 38167558	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hearing Loss Sensorineural	Hearing loss	Pubtator	21052762, 37709329	Stimulate	★☆☆☆☆ Found in Text Mining only
Hearing Loss Sensorineural	Hearing loss	Pubtator	27023102, 28099493, 28116169, 31493294, 34369416, 35063306, 36607747	Associate	★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	29375286		★☆☆☆☆ Found in Text Mining only
Linear atrophy	Atrophy	BEFREE	17368553		★☆☆☆☆ Found in Text Mining only
Low frequency deafness	Low-frequency hearing loss	BEFREE	12324385		★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory disorders	Pubtator	21046548	Associate	★☆☆☆☆ Found in Text Mining only
Meniere Disease	Meniere Disease	BEFREE	10400989, 11698812, 14512963, 14704763, 26758463		★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	16481359		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	CLINGEN_DG	16151338, 16481359, 17561763, 18312449, 18697796, 21046548, 22610276, 22931125, 26256111, 28099493, 28116169, 9806553		★☆☆☆☆ Found in Text Mining only
Nonsyndromic Deafness	Nonsyndromic Deafness	BEFREE	22610276, 24275721, 26631968, 28099493		★☆☆☆☆ Found in Text Mining only
Nyctalopia	Nyctalopia	BEFREE	21046548		★☆☆☆☆ Found in Text Mining only
Osteoporosis	Osteoporosis	Pubtator	36717952	Associate	★☆☆☆☆ Found in Text Mining only
Prelingual sensorineural hearing impairment	Sensorineural hearing loss	CLINVAR_DG	29449721		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Sensorineural Hearing Loss (disorder)	Hearing Loss	BEFREE	11709536, 12843317, 12928864, 14501450, 21052762, 21774451, 23374487, 26256111, 28116169, 29765451, 30806805, 31175453		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	LHGDN	16951386		★☆☆☆☆ Found in Text Mining only
Sensorineural Hearing Loss (disorder)	Hearing Loss	HPO_DG			★☆☆☆☆ Found in Text Mining only
Sensorineural hearing loss, bilateral	Sensorineural hearing loss	BEFREE	23374487, 30806805		★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	34965257	Associate	★☆☆☆☆ Found in Text Mining only
Usher syndrome, type 1F	Usher Syndrome	BEFREE	20097680		★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular Diseases	BEFREE	11709536, 12843317, 16481359, 25230692, 26256111, 27023102		★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	21046548, 25230692, 27023102, 28116169, 29449721, 32562050, 32939038, 34369416, 34369417, 35063306, 36607747	Associate	★☆☆☆☆ Found in Text Mining only
Vestibular Diseases	Vestibular disease	Pubtator	21052762	Stimulate	★☆☆☆☆ Found in Text Mining only
von Willebrand Disease	von Willebrand disorder	BEFREE	19013156		★☆☆☆☆ Found in Text Mining only