COCH

cochlin

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000100473
UniProt:
O43405
OMIM:
603196
Synonyms:
COCH-5B2, DFNA31, DFNA9

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-13.56) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=414, lfc=0.89) PMID:30270045

Phenotypes

Human ciliopathy phenotype:
autosomal dominant nonsyndromic hearing loss; hearing loss, autosomal recessive 110; nonsyndromic genetic hearing loss

Subcellular localization

No ciliary localization reported (cilia-associated gene).

References: PMID:34244442

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in cilia genes cep290 and bbs2, involved in human ciliopathies, affect apical secretion of Cochlin, a major otolith component and a determinant of calcium carbonate crystallization form( 34244442).