Gene: EFEMP1

Alternate names for this Gene: DHRD|DRAD|FBLN3|FBNL|FIBL-3|MLVT|MTLV|S1-5

Gene Summary: This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.

Gene is located in Chromosome: 2

Location in Chromosome : 2p16.1

Description of this Gene: EGF containing fibulin extracellular matrix protein 1

Type of Gene: protein-coding

rs6761893 in EFEMP1 gene and Biliary Atresia PMID 30102696 2018 A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1.

rs11899888 in EFEMP1 gene and Body Height PMID 28552196 2017 Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

PMID 19396169 2009 A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

PMID 20397748 2010 Genome-wide association study of height and body mass index in Australian twin families.

PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs11899888 in EFEMP1 gene and Diastolic blood pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.

rs3791675 in EFEMP1 gene and Height PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 20397748 2010 Genome-wide association study of height and body mass index in Australian twin families.

PMID 19396169 2009 A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.

PMID 18391952 2008 Genome-wide association analysis identifies 20 loci that influence adult height.

rs59985551 in EFEMP1 gene and Lean body mass PMID 30593698 2019 Genomics of body fat percentage may contribute to sex bias in anorexia nervosa.

rs3791675 in EFEMP1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs1367228 in EFEMP1 gene and Venous Thromboembolism PMID 23509962 2013 A genome-wide search for common SNP x SNP interactions on the risk of venous thrombosis.

rs1430193 in EFEMP1 gene and Vital capacity PMID 24929828 2014 Genome-wide association analysis identifies six new loci associated with forced vital capacity.