Entrez Summary: This gene encodes a member of a subfamily of epidermal growth factor-related proteins. The encoded protein is characterized by a cysteine-rich with epidermal growth factor-like domain. This protein may function as a cell adhesion molecule. Mutations in this gene are the cause of atrioventricular septal defect. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Apr 2010].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
EGF CA
DUF3456
GO Terms
endocardial cushion development
cardiac septum development
extracellular matrix structural constituent
cardiac chamber development
mesenchyme development
collagen-containing extracellular matrix
heart development
calcium ion binding
circulatory system development
tissue development
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)