Entrez Summary: This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008].
UniProt Summary: Involved in hearing and vision.
Pfam DomainsGO Terms
Pfam Domains
fn3
Laminin EGF
Laminin G 2
Laminin G 1
GO Terms
USH2 complex
maintenance of animal organ identity
stereocilium membrane
stereocilia ankle link
stereocilium bundle
periciliary membrane compartment
stereocilia ankle link complex
myosin binding
hair cell differentiation
photoreceptor cell maintenance
photoreceptor connecting cilium
terminal bouton
photoreceptor inner segment
inner ear receptor cell differentiation
mechanoreceptor differentiation
collagen binding
retina homeostasis
basement membrane
ciliary basal body
retina development in camera-type eye
sensory perception of sound
sensory perception of mechanical stimulus
tissue homeostasis
inner ear development
ear development
visual perception
sensory perception of light stimulus
camera-type eye development
epidermal cell differentiation
apical plasma membrane
multicellular organismal homeostasis
anatomical structure homeostasis
eye development
visual system development
sensory system development
neuronal cell body
epidermis development
sensory organ development
epithelial cell differentiation
negative regulation of cell differentiation
protein homodimerization activity
negative regulation of developmental process
animal organ morphogenesis
sensory perception
neuron differentiation
epithelium development
nervous system process
generation of neurons
establishment of protein localization
neurogenesis
homeostatic process
tissue development
regulation of cell differentiation
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)