Details for Gene SCUBE2

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

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