Gene: TSPAN12

Alternate names for this Gene: EVR5|NET-2|NET2|TM4SF12

Gene Summary: The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility.

Gene is located in Chromosome: 7

Location in Chromosome : 7q31.31

Description of this Gene: tetraspanin 12

Type of Gene: protein-coding

rs71569047 in TSPAN12 gene and Bone Density PMID 29304378 2018 Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects.

rs267607151 in TSPAN12 gene and Exudative Vitreoretinopathy 5 PMID 22427576 2012 Recessive mutations in TSPAN12 cause retinal dysplasia and severe familial exudative vitreoretinopathy (FEVR).

PMID 20159111 2010 Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.

PMID 20159112 2010 Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy.