Gene: EFEMP2

Alternate names for this Gene: ARCL1B|FBLN4|MBP1|UPH1

Gene 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.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.1

Description of this Gene: EGF containing fibulin extracellular matrix protein 2

Type of Gene: protein-coding

rs10896064 in EFEMP2 gene and Basal Cell Cancer PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs10896064 in EFEMP2 gene and Basal Cell Neoplasm PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs10896064 in EFEMP2 gene and Basal cell carcinoma PMID 31174203 2019 Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

rs2234458 in EFEMP2 gene and Body mass index PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs888015688 in EFEMP2 gene and CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB PMID 17937443 2007 Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.