GUCY2D Chromosome 17
Guanylate cyclase 2D, retinal
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What This Gene Does
This gene encodes a retina-specific guanylate cyclase, which is a member of the membrane guanylyl cyclase family. Like other membrane guanylyl cyclases, this enzyme has a hydrophobic amino-terminal signal sequence followed by a large extracellular domain, a single membrane spanning domain, a kinase homology domain, and a guanylyl cyclase catalytic domain. In contrast to other membrane guanylyl cyclases, this enzyme is not activated by natriuretic peptides. Mutations in this gene result in Leber congenital amaurosis and cone-rod dystrophy-6 diseases. [provided by RefSeq, Dec 2008]
Gene Info
Gene Group
Transmembrane guanylate cyclases
Locus Type
gene with protein product
Location
17p13.1
Ensembl
ENSG00000132518
Associated Conditions (28)
Leber congenital amaurosis 1
Cone-rod dystrophy 6
Inborn genetic diseases
GUCY2D-related disorder
Retinal dystrophy
Choroidal dystrophy
central areolar
1
Night blindness
congenital stationary
type1i
Cataract
Cone-rod dystrophy
Cone dystrophy
Leber congenital amaurosis
GUCY2D-related recessive retinopathy
Retinal disorder
Autosomal recessive optic atrophy
Congenital blindness
Early-onset retinal dystrophy
+8 more conditions
Key Variants
RS1064797217
Conflicting classifications of pathogenicity
Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1
Health Risk
RS1237783733
Conflicting classifications of pathogenicity
Inborn genetic diseases, Cone-rod dystrophy 6, Leber congenital amaurosis 1
Health Risk
RS138836357
Conflicting classifications of pathogenicity
Cone-rod dystrophy 6, Leber congenital amaurosis 1, GUCY2D-related disorder
Health Risk
RS141967896
Conflicting classifications of pathogenicity
Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1
Health Risk
RS1445892049
Conflicting classifications of pathogenicity
Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1
Health Risk
RS146849545
Conflicting classifications of pathogenicity
Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1
Health Risk
RS1478566225
Conflicting classifications of pathogenicity
Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1
Health Risk
RS148136213
Conflicting classifications of pathogenicity
Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1
Health Risk
RS149866657
Conflicting classifications of pathogenicity
Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1
Health Risk
RS1975925973
Conflicting classifications of pathogenicity
Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1
Health Risk
RS1975935914
Conflicting classifications of pathogenicity
Cone-rod dystrophy, Retinal dystrophy, Cone-rod dystrophy
Health Risk
RS1975936032
Conflicting classifications of pathogenicity
Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1
Health Risk
All Variants (236)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS878853342 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS931906767 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis, Leber congenital amaurosis 1 |
| RS1006935198 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Choroidal dystrophy |
| RS1168076308 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1195374954 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1200134985 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, GUCY2D-related disorder |
| RS1200884939 | Health Risk | Pathogenic | Night blindness, congenital stationary, type1i |
| RS12602083 | Health Risk | Pathogenic | — |
| RS1275955653 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1290420698 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Night blindness, congenital stationary |
| RS1308509257 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1338490917 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Night blindness |
| RS1349155167 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1374426388 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1403798841 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1424348888 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1451359371 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1452774826 | Health Risk | Pathogenic | Congenital blindness, Congenital blindness |
| RS1555635550 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1555635668 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1555635778 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1567956946 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1567961680 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Retinal dystrophy |
| RS1567961697 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Night blindness |
| RS1598146173 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy |
| RS1598146589 | Health Risk | Pathogenic | Leber congenital amaurosis, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1598149187 | Health Risk | Pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1598150539 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy |
| RS1975665345 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975665578 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975675766 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975678842 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975693728 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975751307 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975768901 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975890613 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975893449 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975911430 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975923246 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975936949 | Health Risk | Pathogenic | Night blindness, congenital stationary, type1i |
| RS1975937052 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975943416 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975943461 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975955933 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Cone-rod dystrophy 6 |
| RS1975957350 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975957618 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975959442 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975964112 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975973086 | Health Risk | Pathogenic | Early-onset retinal dystrophy, Early-onset retinal dystrophy |
| RS201587670 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |