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 |