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 |
|---|---|---|---|
| RS2151799287 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2151799357 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS2151799452 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2151799492 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2151799567 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2151800620 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2151802829 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2151803659 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2545417186 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2545417252 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545417489 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545417716 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545417991 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545418010 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545418608 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545418704 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545418921 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2545420133 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545420192 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545420235 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545420239 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545423946 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2545423955 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545423992 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545424362 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545425374 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545426022 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545426279 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2545426334 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545426389 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2545427510 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545427576 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS267606857 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Cone-rod dystrophy 6 |
| RS281865408 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS281865409 | Health Risk | Pathogenic | Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy, Leber congenital amaurosis 1 |
| RS281865410 | Health Risk | Pathogenic | Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy, Leber congenital amaurosis 1 |
| RS281865411 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS386834239 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Early-onset retinal dystrophy, Leber congenital amaurosis 1 |
| RS541299023 | Health Risk | Pathogenic | — |
| RS55916957 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS61749663 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, GUCY2D-related recessive retinopathy |
| RS61749669 | Health Risk | Pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS61749670 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis |
| RS61749671 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS61749679 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Retinal dystrophy |
| RS61749683 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS61749755 | Health Risk | Pathogenic | Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy, Leber congenital amaurosis 1 |
| RS61749759 | Health Risk | Pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS61750161 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Retinal dystrophy |
| RS61750164 | Health Risk | Pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |