Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	1690
Gene name	Cochlin
Gene symbol	COCH
Synonyms (NCBI Gene)	COCH-5B2COCH5B2DFNA9DFNB110
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

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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

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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

MIM	HGNC	e!Ensembl
603196	2180	ENSG00000100473

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

Interactions

View interactions

125

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
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
Bilateral sensorineural hearing impairment	Pathogenic	rs1213152015	RCV001730851
Hearing impairment	Likely pathogenic; Pathogenic	rs559481815, rs28938175	RCV001375471 RCV001375055
Hearing loss, autosomal recessive 110	Likely pathogenic; Pathogenic	rs559481815, rs540895576, rs756790858, rs1895773215, rs1895769400	RCV004789558 RCV003447518 RCV000678208 RCV001089547 RCV001089642
Hereditary hearing loss and deafness	Likely pathogenic; Pathogenic	rs121908929	RCV004700196
Nonsyndromic genetic hearing loss	Pathogenic	rs28938175	RCV000211754
Prelingual sensorineural hearing impairment	Likely pathogenic	rs756790858	RCV000590999
Rare genetic deafness	Pathogenic; Likely pathogenic	rs28938175, rs121908932, rs1555310861	RCV000844626 RCV000214849 RCV000605898

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Acute myeloid leukemia	Benign	rs17097458	RCV005894916
COCH-related disorder	Likely benign; Conflicting classifications of pathogenicity; Benign; Uncertain significance	rs1124179, rs748731866, rs61759484, rs202109231, rs573330522, rs2502708823, rs779886624, rs2502754211, rs149627009, rs56946687, rs28362778, rs368182881, rs188283330, rs199608109, rs549957619, rs548387738 View all (1 more)	RCV004731168 RCV003417773 RCV003927898 RCV003939955 RCV003949885 RCV003404679 RCV003921360 RCV003914011 RCV003964280 RCV003981351 RCV003950064 RCV003972335 RCV003915717 RCV003965610 RCV003965627 RCV003953485
Nonpapillary renal cell carcinoma	Benign	rs17097458	RCV005894917
Nonsyndromic Hearing Loss, Dominant	Likely benign; Uncertain significance	rs72262576, rs61035395, rs886050442	RCV000377348 RCV000272423 RCV000318102
Thymoma	Benign	rs17097458	RCV005894920
Usher syndrome	Uncertain significance	rs750832640	RCV001375187
Uterine carcinosarcoma	Benign	rs17097458	RCV005894919
Uterine corpus endometrial carcinoma	Benign	rs17097458	RCV005894921
Uveal melanoma	Benign	rs17097458	RCV005894918

Show/Hide Text Mining Associations (28)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
AA amyloidosis	Associate	31493294
Adenoma	Associate	19098315
Adrenal Insufficiency	Associate	22610276
Alcohol Related Disorders	Associate	35063306
Benign Paroxysmal Positional Vertigo	Stimulate	37709329
Bilateral Vestibulopathy	Associate	34369417, 36607747
Cognition Disorders	Associate	36607747
Deafness	Associate	22534022, 23767834, 25230692, 29449721, 31390618, 31493294, 34529116
Deafness Autosomal Dominant 9	Associate	28099493
Genetic Diseases Inborn	Associate	38167558
Genetic Diseases Inborn	Stimulate	40088601
Hearing Disorders	Associate	34369416
Hearing Loss	Associate	21046548, 22610276, 25230692, 27023102, 28099493, 28116169, 28733840, 29449721, 32562050, 32939038, 34369416, 34369417, 34529116, 35063306, 36607747, 38167558 View all (1 more)
Hearing Loss Sensorineural	Stimulate	21052762, 37709329
Hearing Loss Sensorineural	Associate	27023102, 28099493, 28116169, 31493294, 34369416, 35063306, 36607747
Labyrinth Diseases	Associate	23912888
Memory Disorders	Associate	21046548
Neurologic Manifestations	Associate	31390618
Night Blindness	Associate	21046548
Nonsyndromic Deafness	Associate	21046548, 22610276, 23990876, 25230692, 25388789, 32562050, 34529116
Nonsyndromic sensorineural hearing loss	Associate	28116169, 32939038
Osteoporosis	Associate	36717952
Reflex Abnormal	Associate	29449721
Triple Negative Breast Neoplasms	Associate	34965257
Vertigo	Associate	28099493
Vestibular Diseases	Associate	21046548, 25230692, 27023102, 28116169, 29449721, 32562050, 32939038, 34369416, 34369417, 35063306, 36607747
Vestibular Diseases	Stimulate	21052762
Vestibulocochlear Dysfunction Progressive	Associate	34369417

COCH (cochlin)