COCH (cochlin)

Gene
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
1690
Gene name Gene Name - the full gene name approved by the HGNC.
Cochlin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
COCH
Synonyms (NCBI Gene) Gene synonyms aliases
COCH-5B2, COCH5B2, DFNA9, DFNB110
Chromosome Chromosome number
14
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
14q12
Summary Summary of gene provided in NCBI Entrez 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
miRNA miRNA information provided by mirtarbase database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(56)
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
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide all(11)
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
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Associated diseases
MIM HGNC e!Ensembl
603196 2180 ENSG00000100473
Protein
Gene miRNA Gene ontology Other IDs Protein Associated diseases
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
Sequence length 550
Interactions View interactions
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Deafness Autosomal dominant nonsyndromic hearing loss 9 rs121908930, rs121908932, rs121908934, rs878853226, rs756790858, rs121908927, rs121908929, rs28938175 N/A
Hearing Loss Hearing loss, autosomal recessive 110 rs540895576, rs756790858, rs1895773215, rs1895769400 N/A
hearing impairment Hearing impairment rs28938175 N/A
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Hypertension Hypertension N/A N/A GWAS
Nonsyndromic Deafness Nonsyndromic Hearing Loss, Dominant N/A N/A ClinVar
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
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