Details for Gene CUBN

GENE NAME CUBN
CHROMOSOME 10
ENSEMBL ID ENSG00000107611
ENTREZ ID 8029
UNIPROT ACCESSION NUMBER O60494
GO MOLECULAR FUNCTION signaling receptor activity; cobalamin binding; cargo receptor activity; calcium ion binding; metal ion binding
ESSENTIAL IN MOUSE Essential
PATHWAYS R-HSA-174824; R-HSA-382551; R-HSA-1430728; R-HSA-3359462; R-HSA-556833; R-HSA-3359463; R-HSA-3296482; R-HSA-1643685; R-HSA-196849; hsa04977; R-HSA-196854; R-HSA-8964011; R-HSA-196741; R-HSA-3296469; R-HSA-5668914; R-HSA-8957322; R-HSA-8964043; R-HSA-196791
6 combinations linked to CUBN OLI714; OLI758; OLI729; OLI700; OLI698; OLI726
6 variants linked to CUBN CUBN:c.3356T>C, p.Leu1119Ser; CUBN:c.7406C>T, p.Pro2469Leu; CUBN:c.8279T>C, p.Ile2760Thr; CUBN:c.7646C>T, p.Thr2549Met; CUBN:c.8071G>A, p.Gly2691Arg; CUBN:c.9340G>A, p.Gly3114Ser
1 disease linked to CUBN Isolated anencephaly

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