Details for Gene LTBP2

GENE NAME LTBP2
CHROMOSOME 14
ENSEMBL ID None
ENTREZ ID ENSG00000119681
UNIPROT ACCESSION NUMBER Q14767
GO MOLECULAR FUNCTION ['microfibril binding', 'heparin binding', 'calcium ion binding', 'protein binding', 'growth factor binding', 'extracellular matrix structural constituent']
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-1474244; R-HSA-1566948; R-HSA-2129379
1 combination linked to LTBP2 OLI1796
1 variant linked to LTBP2 LTBP2:c.1295C>T, p.Pro432Leu
1 disease linked to LTBP2 Juvenile glaucoma

Found any issues with the data on this page? Report this entry.