ADCY3 (adenylate cyclase 3)

Gene

• Entrez ID: 109
• Gene name: Adenylate cyclase 3
• Gene symbol: ADCY3
• Synonyms (NCBI Gene): AC-III, AC3, BMIQ19
• 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 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

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 blotting, RNA-seq, qRT-PCR	32462942
MIRT768001	hsa-miR-1299	CLIP-seq
MIRT768002	hsa-miR-3169	CLIP-seq
MIRT768003	hsa-miR-3202	CLIP-seq
MIRT768004	hsa-miR-4533	CLIP-seq
MIRT768005	hsa-miR-4721	CLIP-seq
MIRT768006	hsa-miR-760	CLIP-seq
MIRT768007	hsa-miR-875-3p	CLIP-seq
MIRT1926511	hsa-miR-125a-3p	CLIP-seq
MIRT1926512	hsa-miR-3117-5p	CLIP-seq
MIRT1926513	hsa-miR-3144-5p	CLIP-seq
MIRT1926514	hsa-miR-3191	CLIP-seq
MIRT1926515	hsa-miR-331-3p	CLIP-seq
MIRT1926516	hsa-miR-3670	CLIP-seq
MIRT1926517	hsa-miR-4269	CLIP-seq
MIRT1926518	hsa-miR-4438	CLIP-seq
MIRT1926519	hsa-miR-4652-5p	CLIP-seq
MIRT1926520	hsa-miR-4667-5p	CLIP-seq
MIRT1926521	hsa-miR-4700-5p	CLIP-seq
MIRT1926522	hsa-miR-4722-3p	CLIP-seq
MIRT1926523	hsa-miR-4728-3p	CLIP-seq
MIRT1926524	hsa-miR-4731-5p	CLIP-seq
MIRT1926525	hsa-miR-4755-3p	CLIP-seq
MIRT1926526	hsa-miR-5095	CLIP-seq
MIRT1926527	hsa-miR-605	CLIP-seq
MIRT1926516	hsa-miR-3670	CLIP-seq
MIRT2435209	hsa-miR-1178	CLIP-seq
MIRT2435210	hsa-miR-128	CLIP-seq
MIRT2435211	hsa-miR-1976	CLIP-seq
MIRT2435212	hsa-miR-27a	CLIP-seq
MIRT2435213	hsa-miR-27b	CLIP-seq
MIRT2435214	hsa-miR-3545-5p	CLIP-seq
MIRT2435215	hsa-miR-370	CLIP-seq
MIRT2435216	hsa-miR-4667-3p	CLIP-seq
MIRT2435217	hsa-miR-4715-3p	CLIP-seq
MIRT2435218	hsa-miR-767-3p	CLIP-seq
MIRT2435209	hsa-miR-1178	CLIP-seq
MIRT2443190	hsa-miR-1207-5p	CLIP-seq
MIRT2443191	hsa-miR-1266	CLIP-seq
MIRT2435210	hsa-miR-128	CLIP-seq
MIRT2435211	hsa-miR-1976	CLIP-seq
MIRT2435212	hsa-miR-27a	CLIP-seq
MIRT2435213	hsa-miR-27b	CLIP-seq
MIRT2443192	hsa-miR-296-5p	CLIP-seq
MIRT2443193	hsa-miR-3127-5p	CLIP-seq
MIRT2443194	hsa-miR-3150b-3p	CLIP-seq
MIRT2435214	hsa-miR-3545-5p	CLIP-seq
MIRT2443195	hsa-miR-3646	CLIP-seq
MIRT2443196	hsa-miR-3659	CLIP-seq
MIRT2435215	hsa-miR-370	CLIP-seq
MIRT2443197	hsa-miR-377	CLIP-seq
MIRT2443198	hsa-miR-3918	CLIP-seq
MIRT2443199	hsa-miR-3929	CLIP-seq
MIRT2443200	hsa-miR-4263	CLIP-seq
MIRT2443201	hsa-miR-4325	CLIP-seq
MIRT2443202	hsa-miR-4419b	CLIP-seq
MIRT2443203	hsa-miR-4476	CLIP-seq
MIRT2443204	hsa-miR-4478	CLIP-seq
MIRT2443205	hsa-miR-4493	CLIP-seq
MIRT2443206	hsa-miR-4518	CLIP-seq
MIRT2443207	hsa-miR-4658	CLIP-seq
MIRT2435216	hsa-miR-4667-3p	CLIP-seq
MIRT2443208	hsa-miR-4688	CLIP-seq
MIRT2443209	hsa-miR-4689	CLIP-seq
MIRT2435217	hsa-miR-4715-3p	CLIP-seq
MIRT2443210	hsa-miR-4749-3p	CLIP-seq
MIRT2443211	hsa-miR-4763-3p	CLIP-seq
MIRT2443212	hsa-miR-4784	CLIP-seq
MIRT2443213	hsa-miR-4799-5p	CLIP-seq
MIRT2443214	hsa-miR-493	CLIP-seq
MIRT2443215	hsa-miR-574-5p	CLIP-seq
MIRT2443216	hsa-miR-576-5p	CLIP-seq
MIRT2443217	hsa-miR-648	CLIP-seq
MIRT2443218	hsa-miR-665	CLIP-seq
MIRT2435218	hsa-miR-767-3p	CLIP-seq
MIRT2443194	hsa-miR-3150b-3p	CLIP-seq
MIRT2443195	hsa-miR-3646	CLIP-seq
MIRT2443196	hsa-miR-3659	CLIP-seq
MIRT2443197	hsa-miR-377	CLIP-seq
MIRT2443199	hsa-miR-3929	CLIP-seq
MIRT2443200	hsa-miR-4263	CLIP-seq
MIRT2443201	hsa-miR-4325	CLIP-seq
MIRT2443202	hsa-miR-4419b	CLIP-seq
MIRT2443203	hsa-miR-4476	CLIP-seq
MIRT2443204	hsa-miR-4478	CLIP-seq
MIRT2443205	hsa-miR-4493	CLIP-seq
MIRT2443207	hsa-miR-4658	CLIP-seq
MIRT2443209	hsa-miR-4689	CLIP-seq
MIRT2443212	hsa-miR-4784	CLIP-seq
MIRT2443213	hsa-miR-4799-5p	CLIP-seq
MIRT2443214	hsa-miR-493	CLIP-seq
MIRT2443215	hsa-miR-574-5p	CLIP-seq
MIRT2443216	hsa-miR-576-5p	CLIP-seq
MIRT2443217	hsa-miR-648	CLIP-seq
MIRT2443218	hsa-miR-665	CLIP-seq
MIRT2435209	hsa-miR-1178	CLIP-seq
MIRT2435210	hsa-miR-128	CLIP-seq
MIRT2435211	hsa-miR-1976	CLIP-seq
MIRT2435212	hsa-miR-27a	CLIP-seq
MIRT2435213	hsa-miR-27b	CLIP-seq
MIRT2443192	hsa-miR-296-5p	CLIP-seq
MIRT2443193	hsa-miR-3127-5p	CLIP-seq
MIRT2435214	hsa-miR-3545-5p	CLIP-seq
MIRT2435215	hsa-miR-370	CLIP-seq
MIRT2443198	hsa-miR-3918	CLIP-seq
MIRT2435216	hsa-miR-4667-3p	CLIP-seq
MIRT2435217	hsa-miR-4715-3p	CLIP-seq
MIRT2435218	hsa-miR-767-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003091	Process	Renal water homeostasis	TAS
GO:0004016	Function	Adenylate cyclase activity	IBA	21873635
GO:0004016	Function	Adenylate cyclase activity	ISS
GO:0005516	Function	Calmodulin binding	IEA
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	11549699
GO:0005794	Component	Golgi apparatus	ISS
GO:0005886	Component	Plasma membrane	IDA	11549699
GO:0005886	Component	Plasma membrane	TAS
GO:0005887	Component	Integral component of plasma membrane	IBA	21873635
GO:0005929	Component	Cilium	ISS
GO:0006171	Process	CAMP biosynthetic process	IBA	21873635
GO:0006171	Process	CAMP biosynthetic process	ISS
GO:0007165	Process	Signal transduction	TAS	9920776
GO:0007186	Process	G protein-coupled receptor signaling pathway	TAS
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA	21873635
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	ISS
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	TAS
GO:0007190	Process	Activation of adenylate cyclase activity	TAS
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	TAS
GO:0007338	Process	Single fertilization	ISS
GO:0007340	Process	Acrosome reaction	ISS
GO:0007608	Process	Sensory perception of smell	ISS
GO:0008355	Process	Olfactory learning	ISS
GO:0016020	Component	Membrane	HDA	19946888
GO:0016021	Component	Integral component of membrane	ISS
GO:0030317	Process	Flagellated sperm motility	ISS
GO:0034199	Process	Activation of protein kinase A activity	TAS
GO:0046872	Function	Metal ion binding	IEA
GO:0071377	Process	Cellular response to glucagon stimulus	TAS
GO:1904322	Process	Cellular response to forskolin	ISS

Other IDs

• MIM: 600291
• HGNC: 234
• e!Ensembl: ENSG00000138031

Protein

• UniProt ID: 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
  QKDQQQFNTMYMYRHENVSILFADIVGFTQLSSACSAQELVKLLNELFARFDKLAAKYHQ
  LRIKILGDCYYCICGLPDYREDHAVCSILMGLAMVEAISYVREKTKTGVDMRVGVHTGTV
  LGGVLGQKRWQYDVWSTDVTVANKMEAGGIPGRVHISQSTMDCLKGEFDVEPGDGGSRCD
  YLEEKGIETYLIIASKPEVKKTATQNGLNGSALPNGAPASSKSSSPALIETKEPNGSAHS
  SGSTSEKPEEQDAQADNPSFPNPRRRLRLQDLADRVVDASEDEHELNQLLNEALLERESA
  QVVKKRNTFLLSMRFMDPEMETRYSVEKEKQSGAAFSCSCVVLLCTALVEILIDPWLMTN
  YVTFMVGEILLLILTICSLAAIFPRAFPKKLVAFSTWIDRTRWARNTWAMLAIFILVMAN
  VVDMLSCLQYYTGPSNATAGMETEGSCLENPKYYNYVAVLSLIATIMLVQVSHMVKLTLM
  LLVAGAVATINLYAWRPVFDEYDHKRFREHDLPMVALEQMQGFNPGLNGTDRLPLVPSKY
  SMTVMVFLMMLSFYYFSRHVEKLARTLFLWKIEVHDQKERVYEMRRWNEALVTNMLPEHV
  ARHFLGSKKRDEELYSQTYDEIGVMFASLPNFADFYTEESINNGGIECLRFLNEIISDFD
  SLLDNPKFRVITKIKTIGSTYMAASGVTPDVNTNGFASSNKEDKSERERWQHLADLADFA
  LAMKDTLTNINNQSFNNFMLRIGMNKGGVLAGVIGARKPHYDIWGNTVNVASRMESTGVM
  GNIQVVEETQVILREYGFRFVRRGPIFVKGKGELLTFFLKGRDKLATFPNGPSVTLPHQV
  VDNS

• Sequence length: 1144

Pathways

KEGG:

Purine metabolism
Metabolic pathways
Endocrine resistance
Rap1 signaling pathway
Calcium signaling pathway
cGMP-PKG signaling pathway
cAMP signaling pathway
Chemokine signaling pathway
Phospholipase D signaling pathway
Hormone signaling
Oocyte meiosis
Longevity regulating pathway
Longevity regulating pathway - multiple species
Adrenergic signaling in cardiomyocytes
Vascular smooth muscle contraction
Apelin signaling pathway
Gap junction
Platelet activation
Circadian entrainment
Thermogenesis
Retrograde endocannabinoid signaling
Glutamatergic synapse
Cholinergic synapse
GABAergic synapse
Olfactory transduction
Inflammatory mediator regulation of TRP channels
Insulin secretion
GnRH signaling pathway
Ovarian steroidogenesis
Progesterone-mediated oocyte maturation
Estrogen signaling pathway
Melanogenesis
Thyroid hormone synthesis
Oxytocin signaling pathway
Regulation of lipolysis in adipocytes
Aldosterone synthesis and secretion
Relaxin signaling pathway
Cortisol synthesis and secretion
Parathyroid hormone synthesis, secretion and action
Cushing syndrome
Growth hormone synthesis, secretion and action
Vasopressin-regulated water reabsorption
Salivary secretion
Gastric acid secretion
Pancreatic secretion
Bile secretion
Morphine addiction
Vibrio cholerae infection
Human cytomegalovirus infection
Human T-cell leukemia virus 1 infection
Pathways in cancer
Chemical carcinogenesis - receptor activation
Dilated cardiomyopathy

Reactome:

Glucagon signaling in metabolic regulation
PKA activation
PKA activation in glucagon signalling
Adenylate cyclase activating pathway
Adenylate cyclase inhibitory pathway
G alpha (s) signalling events
G alpha (z) signalling events
Vasopressin regulates renal water homeostasis via Aquaporins
Hedgehog 'off' state
ADORA2B mediated anti-inflammatory cytokines production
FCGR3A-mediated IL10 synthesis

Associated diseases

Causal
Disease term	Disease name	dbSNP ID	References
Breast carcinoma	Breast Carcinoma	rs80359671, rs11540652, rs28934575, rs28897672, rs137886232, rs193922376, rs80357783, rs80359306, rs80359405, rs80359507, rs80359598, rs80358429, rs397507683, rs397515636, rs80359451, rs397507859, rs80359709, rs80359742, rs80359205, rs80357627, rs80357004, rs80357571, rs80357767, rs80357653, rs80358086, rs80357608, rs28897696, rs41293465, rs146650273, rs63751017, rs63750617, rs63750726, rs63750199, rs63749848, rs398122618, rs398122653, rs397509211, rs80357791, rs121912666, rs587778541, rs121908698, rs536907995, rs587781302, rs140342925, rs587781506, rs587782652, rs587782849, rs587783057, rs139770721, rs374950566, rs786202800, rs863224451, rs377153250, rs747727055, rs876658804, rs780001540, rs760815829, rs878854926, rs775248597, rs886040658, rs886040192, rs786203523, rs886040319, rs397508006, rs587782011, rs1060502772, rs1555461727, rs1553333072, rs1114167702, rs1257401983, rs886040950, rs1060502759, rs774684620, rs142947311, rs1555580883, rs748513310, rs376170600, rs863224499, rs1593909229, rs748453607, rs1294578913, rs1574737047, rs1593909960, rs2081922847, rs2082559544, rs2053694038	29059683
Hyperlipidemia	Hyperlipidemia	rs118204057, rs118204060, rs118204062, rs1563569634, rs118204069, rs118204070, rs118204071, rs1566946168, rs1064797075
Inflammatory bowel disease	Inflammatory Bowel Diseases	rs137853579, rs137853580, rs121909601, rs149491038, rs368287711, rs387907326, rs587777338, rs758439420, rs1329427406, rs1264862631, rs1192830343, rs1373354533, rs1419560997, rs1591263883, rs1989014468	26192919, 23128233, 28067908
Obesity	Obesity, Obesity, Morbid	rs74315349, rs1474810899, rs121918111, rs796065034, rs753856820, rs796065035, rs121918112, rs104894023, rs137852821, rs1580764441, rs137852822, rs137852823, rs137852824, rs13447324, rs121913562, rs121913564, rs193922650, rs193922685, rs193922687, rs751160202, rs747681609, rs1553400259, rs13447339, rs370479598, rs1554394014, rs1553174844, rs756232889, rs369841551, rs1557670950, rs1571321748, rs148538980, rs1572820988, rs1591461970, rs1419374563, rs745921568, rs144159890, rs1570714352, rs779783209, rs1573250294, rs1573254045, rs1580744791, rs1580746829	29311635, 29311637
Psoriasis	Psoriasis	rs281875215, rs587777763, rs281875213, rs281875212	26974007

Unknown
Disease term	Disease name	Evidence	References	Source
Crohn disease	Crohn Disease		26974007, 26192919, 28067908	ClinVar
Inflammatory Bowel Disease	Inflammatory Bowel Disease			GWAS
Metabolic Syndrome	Metabolic Syndrome			GWAS
Breast Cancer	Breast Cancer	Importantly, breast cancer patients bearing PRC2 LOF mutations displayed significantly worse prognosis compared with PRC2 wild-type patients		GWAS, CBGDA
Crohn Disease	Crohn Disease			GWAS
Ulcerative colitis	Ulcerative colitis			GWAS
Multiple Sclerosis	Multiple Sclerosis			GWAS
Dental caries	Dental caries			GWAS

Associations from Text Mining
Disease Name	Relationship Type	References
Asthma	Associate	34727921
Carcinoma Renal Cell	Associate	29748622
Cardiovascular Diseases	Associate	24243566
Carotid Stenosis	Associate	32037372
Chronic Traumatic Encephalopathy	Associate	29338612
Cysts	Associate	22952279
Diabetes Mellitus	Associate	27322064
Diabetes Mellitus Type 2	Associate	27322064, 29311636
Dyslipidemias	Associate	32698306
Fibrous Dysplasia Polyostotic	Associate	26651848
Genetic Diseases Inborn	Associate	32699307
Hypertension	Associate	32698306
Inflammatory Bowel Diseases	Associate	25766683
Insulin Resistance	Associate	39519366
Leukemia Lymphoma Adult T Cell	Associate	37832654
Melanoma Cutaneous Malignant	Associate	32699307
Neoplasms	Associate	24243566
Non alcoholic Fatty Liver Disease	Associate	32698306
Obesity	Associate	21079816, 21840420, 26449484, 27322064, 29311636, 29921800, 32153512, 34207686, 34821371, 35026759, 36775011, 36839421, 37000968, 37329217, 39519366, 39766774
Overweight	Associate	39766774
Pigmentation Disorders	Associate	32699307
Polycystic Kidney Autosomal Dominant	Associate	22952279
Stomach Neoplasms	Associate	30106120, 35036435
Weight Loss	Associate	29921800