GPM6B

glycoprotein M6B

Summary

This gene encodes a membrane glycoprotein that belongs to the proteolipid protein family. Proteolipid protein family members are expressed in most brain regions and are thought to be involved in cellular housekeeping functions such as membrane trafficking and cell-to-cell communication. This protein may also be involved in osteoblast differentiation. Alternate splicing results in multiple transcript variants. Pseudogenes of this gene are located on chromosomes Y and 22. [provided by RefSeq, Jan 2016]

Known Variants16 total

rsidPosition (GRCh37)AllelesClassClinVar
rs36099093X:13,794,363A/G—benign
rs757587714X:13,794,368C/T—uncertain significance
rs2519042728X:13,794,386C/T—uncertain significance
rs1555910377X:13,795,465G/A—likely benign
rs141687297X:13,795,519G/A—likely benign
rs774122710X:13,797,959G/C—uncertain significance
rs200352293X:13,797,993G/A—uncertain significance
rs770553728X:13,801,500C/T—uncertain significance
rs2519071745X:13,801,551G/A—uncertain significance
rs144162602X:13,803,769C/T—likely benign
rs769454569X:13,835,001G/T—uncertain significance
rs5934135X:13,885,784C/Gintron variant—
rs7066890X:13,892,582T/A——
rs6528024X:13,930,922C/Tintron variant—
rs66819623X:13,954,397C/Tintron variant—
rs66824950X:13,954,494C/Tintron variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.