Gene Gene information from NCBI Gene database.
Entrez ID 109
Gene name Adenylate cyclase 3
Gene symbol ADCY3
Synonyms (NCBI Gene)
AC-IIIAC3BMIQ19
Chromosome 2
Chromosome location 2p23.3
Summary 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 involv
SNPs SNP information provided by dbSNP.
3
SNP ID Visualize variation Clinical significance Consequence
rs754914420 C>-,CC Risk-factor Coding sequence variant, frameshift variant
rs1331776405 C>T Risk-factor Splice acceptor variant, intron variant
rs1553333167 C>T Risk-factor Splice acceptor variant
miRNA miRNA information provided by mirtarbase database.
112
miRTarBase ID miRNA Experiments Reference
MIRT022973 hsa-miR-124-3p Microarray 18668037
MIRT037340 hsa-miR-877-5p CLASH 23622248
MIRT036106 hsa-miR-1296-5p CLASH 23622248
MIRT035974 hsa-miR-1301-3p CLASH 23622248
MIRT737113 hsa-miR-423-5p Western blottingRNA-seqqRT-PCR 32462942
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
49
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0004016 Function Adenylate cyclase activity IBA
GO:0004016 Function Adenylate cyclase activity IEA
GO:0004016 Function Adenylate cyclase activity ISS
GO:0004016 Function Adenylate cyclase activity TAS 9920776
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
600291 234 ENSG00000138031
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O60266
Protein name Adenylate cyclase type 3 (EC 4.6.1.1) (ATP pyrophosphate-lyase 3) (Adenylate cyclase type III) (AC-III) (Adenylate cyclase, olfactive type) (Adenylyl cyclase 3) (AC3)
Protein function Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Participates in signaling cascades triggered by odorant receptors via its function in cAMP biosynthesis: specifically activated by G alpha protein GNAL/G(
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF16214 AC_N 24 306 Adenylyl cyclase N-terminal extracellular and transmembrane region Family
PF00211 Guanylate_cyc 310 493 Adenylate and Guanylate cyclase catalytic domain Domain
PF00211 Guanylate_cyc 914 1121 Adenylate and Guanylate cyclase catalytic domain Domain
Tissue specificity TISSUE SPECIFICITY: Detected in zona glomerulosa and zona fasciculata in the adrenal gland (at protein level) (PubMed:11549699). Expressed in brain, heart, kidney, liver, lung, pancreas islets, placenta, and skeletal muscle (PubMed:9920776). Detected in t
Sequence
MPRNQGFSEPEYSAEYSAEYSVSLPSDPDRGVGRTHEISVRNSGSCLCLPRFMRLTFVPE
SLENLYQTYFKRQRHETLLVLVVFAALFDCYVVVMCAVVFSSDKLASLAVAGIGLVLDII
LFVLCKKGLLPDRVTRRVLPYVLWLLITAQIFSYLGLNFARAHAASDTVGWQVFFVFSFF
ITLPLSLSPIVIISVVSCVVHTLVLGVTVAQQQQEELKGMQLLREILANVFLYLCAIAVG
IMSYYMADRKHRKAFLEARQSLEVKMNLEEQSQQQENLMLSILPKHVADEMLKDMKKDES
QKDQQQ
FNTMYMYRHENVSILFADIVGFTQLSSACSAQELVKLLNELFARFDKLAAKYHQ
LRIKILGDCYYCICGLPDYREDHAVCSILMGLAMVEAISYVREKTKTGVDMRVGVHTGTV
LGGVLGQKRWQYDVWSTDVTVANKMEAGGIPGRVHISQSTMDCLKGEFDVEPGDGGSRCD
YLEEKGIETYLII
ASKPEVKKTATQNGLNGSALPNGAPASSKSSSPALIETKEPNGSAHS
SGSTSEKPEEQDAQADNPSFPNPRRRLRLQDLADRVVDASEDEHELNQLLNEALLERESA
QVVKKRNTFLLSMRFMDPEMETRYSVEKEKQSGAAFSCSCVVLLCTALVEILIDPWLMTN
YVTFMVGEILLLILTICSLAAIFPRAFPKKLVAFSTWIDRTRWARNTWAMLAIFILVMAN
VVDMLSCLQYYTGPSNATAGMETEGSCLENPKYYNYVAVLSLIATIMLVQVSHMVKLTLM
LLVAGAVATINLYAWRPVFDEYDHKRFREHDLPMVALEQMQGFNPGLNGTDRLPLVPSKY
SMTVMVFLMMLSFYYFSRHVEKLARTLFLWKIEVHDQKERVYEMRRWNEALVTNMLPEHV
ARHFLGSKKRDEELYSQTYDEIGVMFASLPNFADFYTEESINNGGIECLRFLNEIISDFD
SLLDNPKFRVITKIKTIGSTYMAASGVTPDVNTNGFASSNKEDKSERERWQHLADLADFA
LAMKDTLTNINNQSFNNFMLRIGMNKGGVLAGVIGARKPHYDIWGNTVNVASRMESTGVM
GNIQVVEETQVILREYGFRFVRRGPIFVKGKGELLTFFLKG
RDKLATFPNGPSVTLPHQV
VDNS
Sequence length 1144
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
28
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ADCY3-related disorder Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity; risk factor ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 Uncertain significance; risk factor ClinVar
ClinVar, GWAS catalog
ClinVar, GWAS catalog
★★★☆☆
Reported in Unknown/Other Associations (≥2 sources)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Asthma Associate 34727921
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 29748622
★☆☆☆☆
Found in Text Mining only
Cardiovascular Diseases Associate 24243566
★☆☆☆☆
Found in Text Mining only
Carotid Stenosis Associate 32037372
★☆☆☆☆
Found in Text Mining only
Chronic Traumatic Encephalopathy Associate 29338612
★☆☆☆☆
Found in Text Mining only
Cysts Associate 22952279
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Associate 27322064
★☆☆☆☆
Found in Text Mining only
Diabetes Mellitus Type 2 Associate 27322064, 29311636
★☆☆☆☆
Found in Text Mining only
Dyslipidemias Associate 32698306
★☆☆☆☆
Found in Text Mining only
Fibrous Dysplasia Polyostotic Associate 26651848
★☆☆☆☆
Found in Text Mining only