Gene: LEMD3

Alternate names for this Gene: MAN1

Gene Summary: This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.

Gene is located in Chromosome: 12

Location in Chromosome : 12q14.3

Description of this Gene: LEM domain containing 3

Type of Gene: protein-coding

rs1565799131 in LEMD3 gene and Dermatofibrosis lenticularis disseminata PMID 16470551 2006 Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.

rs138916004 in LEMD3 gene and Venous Thromboembolism PMID 28203683 2017 Among 393 AA VTE cases and 4,941 AA controls, three intragenic SNPs reached genome-wide significance: LEMD3 rs138916004 (OR=3.2; p=1.3E-08), LY86 rs3804476 (OR=1.8; p=2E-08) and LOC100130298 rs142143628 (OR=4.5; p=4.4E-08); all three SNPs validated using internal cross-validation, parametric bootstrap and meta-analysis methods.