ADCY5 adenylate cyclase 5
Gene ID: 111, updated on 27-Aug-2024Gene type: protein coding
Also known as: AC5; FDFM; DSKOD
- See all available tests in GTR for this gene
- Go to complete Gene record for ADCY5
- Go to Variation Viewer for ADCY5 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. GeneReviews: Not available | |
| Dyskinesia with orofacial involvement, autosomal dominant | See labs |
| Dyskinesia with orofacial involvement, autosomal recessive | See labs |
| Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. GeneReviews: Not available | |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility. GeneReviews: Not available | |
| Neurodevelopmental disorder with hyperkinetic movements and dyskinesia | See labs |
| New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. GeneReviews: Not available | |
| New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Stratifying type 2 diabetes cases by BMI identifies genetic risk variants in LAMA1 and enrichment for risk variants in lean compared to obese cases. GeneReviews: Not available | |
| Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. GeneReviews: Not available |
Genomic context
- Location:
- 3q21.1
- Sequence:
- Chromosome: 3; NC_000003.12 (123282296..123449090, complement)
- Total number of exons:
- 32
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ADCY5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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