Entrez Summary: This gene encodes a multi-domain secreted protein that may have a critical role in ocular and limb development. Mutations in this gene are associated with microphthalmia and limb anomalies. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2011].
UniProt Summary: Plays essential roles in both eye and limb development. Probable regulator of osteoblast differentiation. {ECO:0000269|PubMed:20359165, ECO:0000269|PubMed:21194678, ECO:0000269|PubMed:21194680}.
Pfam DomainsGO Terms
Pfam Domains
Kazal 2
SPARC Ca bdg
Thyroglobulin 1
GO Terms
extracellular matrix binding
basement membrane
regulation of osteoblast differentiation
appendage development
limb development
regulation of ossification
eye development
visual system development
sensory system development
sensory organ development
calcium ion binding
regulation of cell differentiation
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)