Gene: STAB2
Alternate names for this Gene: FEEL2|FELE-2|FELL2|FEX2|HARE|SCARH1
Gene Summary: This gene encodes a large, transmembrane receptor protein which may function in angiogenesis, lymphocyte homing, cell adhesion, or receptor scavenging. The protein contains 7 fasciclin, 15 epidermal growth factor (EGF)-like, and 2 laminin-type EGF-like domains as well as a C-type lectin-like hyaluronan-binding Link module. The protein is primarily expressed on sinusoidal endothelial cells of liver, spleen, and lymph node. The receptor has been shown to bind and endocytose ligands such as hyaluronan, low density lipoprotein, Gram-positive and Gram-negative bacteria, and advanced glycosylation end products. Supporting its possible role as a scavenger receptor, the protein has been shown to cycle between the plasma membrane and lysosomes.
Gene is located in Chromosome: 12
Location in Chromosome : 12q23.3
Description of this Gene: stabilin 2
Type of Gene: protein-coding
Gene: NT5DC3
Alternate names for this Gene: TU12B1-TY|TU12B1TY
Gene Summary:
Gene is located in Chromosome: 12
Location in Chromosome : 12q23.3
Description of this Gene: 5'-nucleotidase domain containing 3
Type of Gene: protein-coding
rs4981022 in
STAB2;NT5DC3 gene and
Factor VIII measurement
PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
rs4981022 in
STAB2;NT5DC3 gene and
von Willebrand's factor (lab test)
PMID 30586737 2019 Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.
PMID 20231535 2010 Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium.
PMID 26486471 2016 Genome-wide association studies identify genetic loci for low von Willebrand factor levels.