GENE NAME | OBSCN |
CHROMOSOME | 1 |
ENSEMBL ID | ENSG00000154358 |
ENTREZ ID | 84033 |
UNIPROT ACCESSION NUMBER | A6NGQ3 |
GO MOLECULAR FUNCTION | phosphatidylinositol-3-phosphate binding; protein binding; phosphatidylinositol-3,4-bisphosphate binding; protein serine/threonine kinase activity; phosphatidylinositol-3,4,5-trisphosphate binding; cell adhesion molecule binding; protein serine/threonine/tyrosine kinase activity; phosphatidylinositol-5-phosphate binding; ankyrin binding; metal ion binding; guanyl-nucleotide exchange factor activity; phosphatidylinositol-4-phosphate binding; ATP binding; structural constituent of muscle; calmodulin binding; titin binding; protein serine kinase activity; phosphatidylinositol-4,5-bisphosphate binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-416482; R-HSA-194840; R-HSA-194315; R-HSA-73887; R-HSA-388396; R-HSA-193648; R-HSA-162582; R-HSA-372790; R-HSA-193704; R-HSA-204998 |
3 combinations linked to OBSCN | OLI978; OLI647; OLI977 |
3 variants linked to OBSCN | OBSCN:c.20563C>A, p.Arg6855Ser; OBSCN:c.14803C>A, p.Pro4935Thr; OBSCN:c.8633T>C, p.Val2878Ala |
2 diseases linked to OBSCN | Left ventricular noncompaction; Sudden infant death syndrome |