Entrez Summary: This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013].
UniProt Summary: Required in retinal ON-bipolar cells for normal localization of the cation channel TRPM1 at dendrite tips (By similarity). May also have a role in cone synapse formation (By similarity). Might facilitate FGFR1 exit from the endoplasmic reticulum to the Golgi (PubMed:22673519). Could be a regulator of the FGFRs (PubMed:22673519). {ECO:0000250|UniProtKB:W8DXL4, ECO:0000269|PubMed:22673519}.
Pfam DomainsGO Terms
Pfam Domains
I-set
LRR 4
GO Terms
regulation of fibroblast growth factor receptor signaling pathway
perikaryon
visual perception
sensory perception of light stimulus
regulation of cellular response to growth factor stimulus
dendrite
endoplasmic reticulum membrane
sensory perception
nervous system process
system process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)