STAB2 Chromosome 12

Stabilin 2
1 variant 1 Health Risk

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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Scavenger receptors
Locus Type
gene with protein product
Location
12q23.3
Ensembl
ENSG00000136011
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS113917053 Health Risk Conflicting classifications of pathogenicity
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