ADCY5 Chromosome 3
Adenylate cyclase 5
Upload your DNA to see your personal genotypes for variants in ADCY5.
What This Gene Does
This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]
Gene Info
Gene Group
Adenylate cyclases
Locus Type
gene with protein product
Location
3q21.1
Ensembl
ENSG00000173175
Associated Conditions (10)
Inborn genetic diseases
ADCY5-related disorder
Dyskinesia with orofacial involvement
autosomal dominant
Morphological central nervous system abnormality
Hereditary ataxia
autosomal recessive
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
See cases
Neurodevelopmental delay
Key Variants
RS1015484639
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1020556677
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS112913957
Conflicting classifications of pathogenicity
Health Risk
RS113442895
Conflicting classifications of pathogenicity
ADCY5-related disorder, ADCY5-related disorder
Health Risk
RS1209746484
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1213185511
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1266876998
Conflicting classifications of pathogenicity
Health Risk
RS1304839135
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS138488088
Conflicting classifications of pathogenicity
Inborn genetic diseases, ADCY5-related disorder, Inborn genetic diseases
Health Risk
RS1387460227
Conflicting classifications of pathogenicity
Health Risk
RS138954200
Conflicting classifications of pathogenicity
Health Risk
RS140572299
Conflicting classifications of pathogenicity
Health Risk
All Variants (95)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1015484639 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1020556677 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS112913957 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS113442895 | Health Risk | Conflicting classifications of pathogenicity | ADCY5-related disorder, ADCY5-related disorder |
| RS1209746484 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1213185511 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1266876998 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1304839135 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS138488088 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ADCY5-related disorder, Inborn genetic diseases |
| RS1387460227 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS138954200 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS140572299 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1406512689 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS141058563 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141412542 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS141922371 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS146316902 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS147630334 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS148493988 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1487398554 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS149775261 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151195921 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS151227955 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200673681 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200831250 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS200892634 | Health Risk | Conflicting classifications of pathogenicity | Dyskinesia with orofacial involvement, autosomal dominant, ADCY5-related disorder |
| RS201333022 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS2472794733 | Health Risk | Conflicting classifications of pathogenicity | Morphological central nervous system abnormality, Morphological central nervous system abnormality |
| RS372853437 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS373748121 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Hereditary ataxia, Inborn genetic diseases |
| RS376898099 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS529481040 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS543912318 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS548282891 | Health Risk | Conflicting classifications of pathogenicity | Dyskinesia with orofacial involvement, autosomal dominant, Inborn genetic diseases |
| RS550254165 | Health Risk | Conflicting classifications of pathogenicity | ADCY5-related disorder, ADCY5-related disorder |
| RS557687418 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS558200846 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS559947047 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS61734561 | Health Risk | Conflicting classifications of pathogenicity | Dyskinesia with orofacial involvement, autosomal dominant, Inborn genetic diseases |
| RS746547282 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS749154761 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752897516 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS753975649 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS761413664 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS762609054 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS765952713 | Health Risk | Conflicting classifications of pathogenicity | Dyskinesia with orofacial involvement, autosomal recessive, Dyskinesia with orofacial involvement |
| RS77439349 | Health Risk | Conflicting classifications of pathogenicity | Dyskinesia with orofacial involvement, autosomal dominant, autosomal recessive |
| RS775510502 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS776480737 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS780518999 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, ADCY5-related disorder, Dyskinesia with orofacial involvement |