Details for Gene GUCY2D

GENE NAME GUCY2D
CHROMOSOME 17
ENSEMBL ID None
ENTREZ ID ENSG00000132518
UNIPROT ACCESSION NUMBER Q02846
GO MOLECULAR FUNCTION ['signaling receptor activity', 'protein homodimerization activity', 'protein binding', 'protein kinase activity', 'protein-containing complex binding', 'GTP binding', 'peptide receptor activity', 'guanylate cyclase activity', 'ATP binding']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa00230; hsa01100; hsa04740; hsa04744; R-HSA-162582; R-HSA-2187338; R-HSA-2514856; R-HSA-2514859; R-HSA-372790; R-HSA-388396; R-HSA-418594
1 combination linked to GUCY2D OLI1682
1 variant linked to GUCY2D GUCY2D:c.1720C>T, p.Arg574Cys
1 disease linked to GUCY2D Non-Syndromic genetic keratoconus

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