EFEMP2, Official Symbol EFEMP2provided by HGNC Official Full Name EGF containing fibulin extracellular matrix protein 2provided by HGNC Primary source HGNC:HGNC:3219 See related Ensembl:ENSG00000172638 MIM:604633; AllianceGenome:HGNC:3219 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MBP1; UPH1; FBLN4; ARCL1B 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] Expression Ubiquitous expression in ovary (RPKM 37.0), endometrium (RPKM 33.0) and 24 other tissues See more Orthologs mouse all