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 |
|---|---|---|---|
| RS61750168 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Retinal dystrophy |
| RS61750172 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Cone dystrophy, Leber congenital amaurosis 1 |
| RS61750173 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Retinal dystrophy, Progressive cone dystrophy (without rod involvement) |
| RS61750185 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Retinal dystrophy |
| RS61750194 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS63749078 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS748798324 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Choroidal dystrophy, central areolar |
| RS750889782 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis, Cone-rod dystrophy 6 |
| RS755999834 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS756044745 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy |
| RS757823463 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Retinal dystrophy |
| RS765910207 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Leber congenital amaurosis |
| RS768390959 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS769818541 | Health Risk | Pathogenic | Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS770255396 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS772242251 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Retinal dystrophy |
| RS776817542 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS781725943 | Health Risk | Pathogenic | Leber congenital amaurosis, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS794727952 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS866511152 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS868612148 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS940175403 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Leber congenital amaurosis |
| RS945734402 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1341592819 | Health Risk | Pathogenic/Likely pathogenic | maculopathy, Leber congenital amaurosis 1, GUCY2D retinopathy |
| RS1348467293 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1395017892 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS143745703 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Retinal dystrophy, Leber congenital amaurosis |
| RS1598144694 | Health Risk | Pathogenic/Likely pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1598150748 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2151799674 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS2151801050 | Health Risk | Pathogenic/Likely pathogenic | Retinitis pigmentosa, Autosomal recessive optic atrophy, Leber congenital amaurosis 1 |
| RS61750182 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS61750183 | Health Risk | Pathogenic/Likely pathogenic | Retinal dystrophy, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS61750188 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 1, Retinal dystrophy, Leber congenital amaurosis |
| RS747951577 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Night blindness |
| RS756730335 | Health Risk | Pathogenic/Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Night blindness |