ADCY3 Chromosome 2
Adenylate cyclase 3
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What This Gene Does
This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
Gene Info
Gene Group
Adenylate cyclases
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000138031
Associated Conditions (3)
ADCY3-related disorder
Inborn genetic diseases
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
Key Variants
RS139407103
Conflicting classifications of pathogenicity
ADCY3-related disorder, ADCY3-related disorder
Health Risk
RS369803323
Conflicting classifications of pathogenicity
ADCY3-related disorder, Inborn genetic diseases, ADCY3-related disorder
Health Risk
RS1668049134
Likely pathogenic
Health Risk
RS1331776405
risk factor
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
Health Risk
RS1553329804
risk factor
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
Health Risk
RS1553333167
risk factor
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
Health Risk
RS754914420
risk factor
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
Health Risk
RS750852737
Uncertain significance; risk factor
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, ADCY3-related disorder, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS139407103 | Health Risk | Conflicting classifications of pathogenicity | ADCY3-related disorder, ADCY3-related disorder |
| RS369803323 | Health Risk | Conflicting classifications of pathogenicity | ADCY3-related disorder, Inborn genetic diseases, ADCY3-related disorder |
| RS1668049134 | Health Risk | Likely pathogenic | — |
| RS1331776405 | Health Risk | risk factor | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 |
| RS1553329804 | Health Risk | risk factor | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 |
| RS1553333167 | Health Risk | risk factor | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 |
| RS754914420 | Health Risk | risk factor | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 |
| RS750852737 | Health Risk | Uncertain significance; risk factor | BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19, ADCY3-related disorder, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 |