GUCY2D Chromosome 17
Guanylate cyclase 2D, retinal
Upload your DNA to see your personal genotypes for variants in GUCY2D.
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 |
|---|---|---|---|
| RS1975743813 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Retinal disorder, Leber congenital amaurosis 1 |
| RS1975868246 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975868606 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975868797 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975909279 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975911358 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975931968 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975943992 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975945845 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1975949139 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1975971228 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS2151801563 | Health Risk | Likely pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2151802518 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS2151802780 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS2151802832 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS2151803131 | Health Risk | Likely pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2151803362 | Health Risk | Likely pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2151803661 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS2545418937 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS2545420928 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS2545423875 | Health Risk | Likely pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545424818 | Health Risk | Likely pathogenic | Autosomal recessive optic atrophy, Autosomal recessive optic atrophy |
| RS2545425310 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS2545426444 | Health Risk | Likely pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS2545426712 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS573270795 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS61749668 | Health Risk | Likely pathogenic | Cone dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS61749673 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, GUCY2D-related recessive retinopathy |
| RS61749674 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, GUCY2D-related recessive retinopathy |
| RS61749676 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis |
| RS61749758 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS61750171 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Retinal dystrophy |
| RS61750179 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS61750184 | Health Risk | Likely pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Choroidal dystrophy |
| RS61750187 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy, Leber congenital amaurosis 1 |
| RS61750189 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS63340060 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS63749076 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS751822337 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS754431996 | Health Risk | Likely pathogenic | — |
| RS762981013 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS763890649 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS764954235 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS765463082 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, GUCY2D-related recessive retinopathy |
| RS766646217 | Health Risk | Likely pathogenic | Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS772444228 | Health Risk | Likely pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS777075412 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS786205499 | Health Risk | Likely pathogenic | — |
| RS786205500 | Health Risk | Likely pathogenic | — |
| RS868557040 | Health Risk | Likely pathogenic | GUCY2D-related recessive retinopathy, GUCY2D-related recessive retinopathy |