GENE NAME | SCUBE2 |
CHROMOSOME | 11 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000175356 |
UNIPROT ACCESSION NUMBER | Q9NQ36 |
GO MOLECULAR FUNCTION | ['lipid binding', 'calcium ion binding', 'protein binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-162582; R-HSA-5358346; R-HSA-5358351; R-HSA-5362798 |
4 combinations linked to SCUBE2 | OLI683; OLI682; OLI1306; OLI840 |
5 variants linked to SCUBE2 | SCUBE2:c.1573C>T, p.Arg525Ter; SCUBE2:p.Thr285Met; SCUBE2:c.1592G>A, p.Cys531Tyr; SCUBE2:p.Pro235Ser; SCUBE2:p.Asp371Tyr |
3 diseases linked to SCUBE2 | Holoprosencephaly; Cerebral arteriovenous malformation; Juvenile amyotrophic lateral sclerosis |