cochlin

Summary
Gene Symbol
  • COCH
Organism
Homo sapiens (human)
NCBI Gene
1690
PubChem
1690
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Disease variant
  • Disulfide bond
  • Extracellular matrix
  • Glycoprotein
  • Hearing
  • Non-syndromic deafness
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Signal
Proteins
Displaying all 2 entries
UniProt Protein Name
O43405
  • COCH-5B2
A0A2U3TZE7
OrthoDB (Group)
Group level
Eukaryota
Group Name
sushi, von Willebrand factor type a, egf and pentraxin domain-containing protein 1
Functional Category
  • G: Carbohydrate transport and metabolism
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Displaying 1 entry
Gene Ontology
calcium ion binding
Disease
Disease Ontology
Displaying all 2 entries
DO ID Disease Name Source
DOID:0110593 autosomal dominant nonsyndromic deafness 9
DOID:0111644 autosomal recessive nonsyndromic deafness 110

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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