Entrez Summary: A large number of extracellular matrix proteins have been found to contain variations of the epidermal growth factor (EGF) domain and have been implicated in functions as diverse as blood coagulation, activation of complement and determination of cell fate during development. The protein encoded by this gene contains four EGF2 domains and six calcium-binding EGF2 domains. This gene is necessary for elastic fiber formation and connective tissue development. Defects in this gene are cause of an autosomal recessive cutis laxa syndrome. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jan 2011].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
cEGF
EGF CA
GO Terms
elastic fiber assembly
extracellular matrix assembly
extracellular vesicle
basement membrane
extracellular matrix structural constituent
extracellular matrix organization
collagen-containing extracellular matrix
extracellular structure organization
supramolecular fiber organization
calcium ion binding
extracellular region
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)
Compound Hit
No hits were found.
Most Correlated Genes in Chemogenomics
No correlation found to any other genes in chemogenomics.
Tissues where Essential in the Avana Dataset (DepMap 20Q1)
Global Fraction of Cell Lines Where Essential: 0/739