Entrez Summary: This gene encodes a protein that contains a N-terminal thrombospondin-type laminin G domain and several tandem arranged epilepsy-associated repeats (EARs). A mutation in this gene is the cause of autosomal recessive deafness-98. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Dec 2012].
UniProt Summary: May play a role in development or function of the auditory system.
Pfam DomainsGO Terms
Pfam Domains
EPTP
GO Terms
tooth mineralization
stereocilium
ciliary membrane
biomineral tissue development
biomineralization
regulation of Notch signaling pathway
odontogenesis
sensory perception of sound
sensory perception of mechanical stimulus
cell surface
molecular function
animal organ morphogenesis
sensory perception
nervous system process
tissue development
extracellular region
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)