Gene: TSPAN5

Alternate names for this Gene: NET-4|NET4|TM4SF9|TSPAN-5

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: 4

Location in Chromosome : 4q23

Description of this Gene: tetraspanin 5

Type of Gene: protein-coding

rs17027607 in TSPAN5 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs111988552 in TSPAN5 gene and Rheumatoid Arthritis PMID 22491018 2013 Genome-wide association analysis implicates the involvement of eight loci with response to tocilizumab for the treatment of rheumatoid arthritis.

rs17027607 in TSPAN5 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.