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 |
|---|---|---|---|
| RS1064797217 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1237783733 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS138836357 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, GUCY2D-related disorder |
| RS141967896 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1445892049 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS146849545 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1478566225 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS148136213 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS149866657 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975925973 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975935914 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy, Retinal dystrophy, Cone-rod dystrophy |
| RS1975936032 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1975945188 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS200586401 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Inborn genetic diseases |
| RS200637525 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Night blindness |
| RS2151799690 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Choroidal dystrophy |
| RS34331388 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Inborn genetic diseases |
| RS545271894 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Inborn genetic diseases |
| RS549834851 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Night blindness |
| RS553602736 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Inborn genetic diseases |
| RS562248093 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS563208176 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS61749682 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS753488664 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Inborn genetic diseases |
| RS754581545 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, GUCY2D-related disorder |
| RS755223158 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS764749298 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS771641368 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS773030462 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Inborn genetic diseases |
| RS775105018 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, GUCY2D-related disorder |
| RS776298636 | Health Risk | Conflicting classifications of pathogenicity | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS794727237 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS878853343 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS898895746 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS918147589 | Health Risk | Conflicting classifications of pathogenicity | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS952193754 | Health Risk | Conflicting classifications of pathogenicity | Cone dystrophy, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1000501472 | Health Risk | Likely pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1210713719 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1238251797 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1306952187 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS138922415 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Cone-rod dystrophy 6, Leber congenital amaurosis 1 |
| RS1429807175 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, GUCY2D-related recessive retinopathy, Leber congenital amaurosis 1 |
| RS1555634640 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1555635925 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1567958644 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |
| RS1598149154 | Health Risk | Likely pathogenic | Cone-rod dystrophy 6, Cone-rod dystrophy 6 |
| RS1598149659 | Health Risk | Likely pathogenic | Leber congenital amaurosis, Leber congenital amaurosis |
| RS1598150793 | Health Risk | Likely pathogenic | Cone-rod dystrophy, Cone-rod dystrophy |
| RS1738565324 | Health Risk | Likely pathogenic | Cone-rod dystrophy 6, Leber congenital amaurosis 1, Cone-rod dystrophy 6 |
| RS1975693830 | Health Risk | Likely pathogenic | Leber congenital amaurosis 1, Leber congenital amaurosis 1 |