STAB2

stabilin 2

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. [provided by RefSeq, Jul 2008]

Known Variants227 total

rsidPosition (GRCh37)AllelesClassClinVar
rs140625264312:103,981,258A/G—uncertain significance
rs15068252312:103,981,288G/A—uncertain significance
rs14987538212:103,984,692G/T—uncertain significance
rs76292232412:103,984,733C/T—uncertain significance
rs156594771312:103,984,754G/T—uncertain significance
rs77969603212:103,984,784G/T—uncertain significance
rs14669869512:103,988,220G/A—uncertain significance
rs75842033012:103,988,252C/T—uncertain significance
rs13926081812:103,988,253G/A—likely benign
rs14261751812:103,988,267C/T—uncertain significance
rs15100984112:103,988,268G/A—likely benign
rs83168612:103,998,169G/Aintron variant—
rs272388912:104,000,470T/G——
rs19958340412:104,015,859G/A—uncertain significance
rs13866638412:104,025,386T/C—benign
rs14913228512:104,025,420G/A—benign
rs14705333012:104,025,446G/A—benign
rs100929694812:104,025,453G/A—uncertain significance
rs19063217712:104,030,994G/A—uncertain significance
rs18281021412:104,031,023A/C—benign
rs14345247812:104,031,269A/Gintron variant—
rs159316946412:104,031,839G/T—uncertain significance
rs7458035112:104,031,842C/T—likely benign
rs54401275412:104,031,860G/A—likely benign
rs75893177212:104,031,865A/G—uncertain significance
rs74955397612:104,031,931A/G—likely benign
rs76861504812:104,031,959C/T—uncertain significance
rs99372572812:104,031,964G/C—uncertain significance
rs19269068212:104,031,996C/A—likely benign
rs6193779412:104,033,448C/Tintron variant—
rs1231947612:104,033,910G/A—benign
rs187281563712:104,033,965A/C—uncertain significance
rs20095681912:104,033,987G/A—likely benign
rs75530797512:104,033,991C/A—uncertain significance
rs77720943912:104,034,009A/T—uncertain significance
rs74560948612:104,034,018G/A—uncertain significance
rs165012312:104,034,319C/Tregulatory region variant—
rs978341012:104,037,879T/C——
rs78157505112:104,044,316C/T—uncertain significance
rs133814321812:104,044,343T/C—uncertain significance
rs77141328412:104,046,353A/C—uncertain significance
rs19046552112:104,046,355A/G—benign
rs14544599712:104,046,371A/C—uncertain significance
rs89069388812:104,046,458C/T—uncertain significance
rs77320749712:104,048,406C/A—uncertain significance
rs14952400812:104,048,446G/T—benign
rs160986012:104,048,454A/C—benign
rs14619553012:104,048,470C/G—uncertain significance
rs254374932012:104,049,070C/A—uncertain significance
rs37747212812:104,049,074T/A—uncertain significance
rs37350716212:104,049,235A/T—uncertain significance
rs75995704412:104,049,264G/A—uncertain significance
rs254375014112:104,049,282T/C—uncertain significance
rs144837443312:104,049,289T/C—uncertain significance
rs77334418312:104,049,330G/A—uncertain significance
rs83168112:104,051,298C/T——
rs19061388612:104,052,226G/Aupstream gene variant—
rs18806192912:104,054,133G/A—likely benign
rs77361311912:104,054,494A/G—uncertain significance
rs76405555212:104,054,536G/A—likely benign
rs1111170612:104,056,616C/T—benign
rs7702068512:104,056,635G/A—benign
rs76116899712:104,056,662T/G—uncertain significance
rs77649817412:104,056,745G/A—uncertain significance
rs53960432812:104,056,769T/C—uncertain significance
rs74652882912:104,060,078G/A—uncertain significance
rs76083283812:104,060,121C/G—uncertain significance
rs18350109712:104,062,415T/C—benign
rs131919546412:104,062,484C/T—uncertain significance
rs103024899612:104,064,477G/A—uncertain significance
rs7543368812:104,064,497C/T—benign
rs75613702312:104,064,504T/C—uncertain significance
rs77930011812:104,064,528G/A—uncertain significance
rs101941954912:104,064,546T/C—uncertain significance
rs52931569512:104,067,800C/T—likely benign
rs52850085012:104,067,834G/A—uncertain significance
rs20207315112:104,067,872C/G—benign
rs20144243712:104,069,734G/C—uncertain significance
rs26760327412:104,069,758G/A—uncertain significance
rs77358450612:104,071,264A/G—uncertain significance
rs76724964612:104,071,274G/A—uncertain significance
rs75708325012:104,071,384G/A—uncertain significance
rs20003220712:104,076,979A/G—likely benign
rs127099752812:104,078,771G/A—likely benign
rs254078718712:104,083,678C/G—uncertain significance
rs129318939812:104,083,703T/C—uncertain significance
rs74783382012:104,083,745T/G—uncertain significance
rs78130668212:104,084,207A/G—uncertain significance
rs146503791312:104,084,215C/G—uncertain significance
rs156601833712:104,084,219G/A—uncertain significance
rs74974942612:104,084,228G/A—uncertain significance
rs98011904812:104,084,309T/G—uncertain significance
rs18470540712:104,086,582A/G—benign
rs75267893612:104,086,597C/T—uncertain significance
rs70365112:104,086,631C/Tsynonymous variant—
rs11391705312:104,089,347G/A—conflicting classifications of pathogenicity
rs77695855312:104,089,352A/G—uncertain significance
rs76552488412:104,089,364C/T—uncertain significance
rs20010914212:104,089,412C/T—uncertain significance
rs77955888812:104,089,413G/A—uncertain significance

Showing 100 of 227 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.