Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	111
Gene name Gene Name - the full gene name approved by the HGNC.	Adenylate cyclase 5
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ADCY5
Synonyms (NCBI Gene) Gene synonyms aliases	AC5, DSKOD, FDFM
Chromosome Chromosome number	3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	3q21.1
Summary Summary of gene provided in NCBI Entrez Gene.	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 sub

Show/Hide all(23)

SNP ID	Visualize variation	Clinical significance	Consequence
rs61734561	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, missense variant
rs548282891	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, coding sequence variant
rs746547282	C>T	Likely-pathogenic	Splice donor variant
rs757156390	G>A,C	Pathogenic	Missense variant, synonymous variant, coding sequence variant
rs765349480	C>G,T	Likely-pathogenic	Coding sequence variant, missense variant
rs796065306	C>T	Pathogenic	Missense variant, coding sequence variant
rs797045002	C>A,T	Pathogenic	Splice donor variant
rs864309483	G>A	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs864309484	A>T	Pathogenic	Missense variant, coding sequence variant
rs864309515	C>T	Pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs910314734	G>C,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1057520218	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1085308027	C>A	Likely-pathogenic	Missense variant, coding sequence variant
rs1215504032	AGCCGCCGCCGCCG>-	Pathogenic	Coding sequence variant, genic upstream transcript variant, frameshift variant
rs1553718964	G>T	Pathogenic	Missense variant, stop gained, coding sequence variant
rs1553726054	T>A,C	Likely-pathogenic	Missense variant, stop gained, coding sequence variant
rs1553732126	->G	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1553751151	G>T	Pathogenic	Stop gained, genic upstream transcript variant, coding sequence variant
rs1553751262	GCCGAGCCGCCGCCGCCGCC>-,GCC	Likely-pathogenic	Frameshift variant, genic upstream transcript variant, coding sequence variant
rs1576526285	T>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1576606182	T>A,C	Likely-pathogenic	Missense variant, coding sequence variant
rs1576606282	G>A	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs1576704514	AG>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic upstream transcript variant

Show/Hide all(79)

miRTarBase ID	miRNA	Experiments	Reference
MIRT720875	hsa-miR-4753-5p	HITS-CLIP	19536157
MIRT720874	hsa-miR-4717-5p	HITS-CLIP	19536157
MIRT720873	hsa-miR-3922-5p	HITS-CLIP	19536157
MIRT720872	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT720871	hsa-miR-4287	HITS-CLIP	19536157
MIRT720870	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT720869	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT720868	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT720867	hsa-miR-718	HITS-CLIP	19536157
MIRT720866	hsa-miR-1273h-5p	HITS-CLIP	19536157
MIRT720875	hsa-miR-4753-5p	HITS-CLIP	19536157
MIRT720874	hsa-miR-4717-5p	HITS-CLIP	19536157
MIRT720873	hsa-miR-3922-5p	HITS-CLIP	19536157
MIRT720872	hsa-miR-6832-3p	HITS-CLIP	19536157
MIRT720871	hsa-miR-4287	HITS-CLIP	19536157
MIRT720870	hsa-miR-4685-3p	HITS-CLIP	19536157
MIRT720869	hsa-miR-204-5p	HITS-CLIP	19536157
MIRT720868	hsa-miR-211-5p	HITS-CLIP	19536157
MIRT720867	hsa-miR-718	HITS-CLIP	19536157
MIRT720866	hsa-miR-1273h-5p	HITS-CLIP	19536157
MIRT768008	hsa-miR-4455	CLIP-seq
MIRT768009	hsa-miR-510	CLIP-seq
MIRT768010	hsa-miR-512-5p	CLIP-seq
MIRT768011	hsa-miR-603	CLIP-seq
MIRT768012	hsa-miR-633	CLIP-seq
MIRT768013	hsa-miR-1263	CLIP-seq
MIRT768014	hsa-miR-1271	CLIP-seq
MIRT768015	hsa-miR-182	CLIP-seq
MIRT768016	hsa-miR-2392	CLIP-seq
MIRT768017	hsa-miR-298	CLIP-seq
MIRT768018	hsa-miR-3148	CLIP-seq
MIRT768019	hsa-miR-3194-3p	CLIP-seq
MIRT768020	hsa-miR-3200-3p	CLIP-seq
MIRT768021	hsa-miR-323-5p	CLIP-seq
MIRT768022	hsa-miR-3978	CLIP-seq
MIRT768023	hsa-miR-4299	CLIP-seq
MIRT768024	hsa-miR-4436b-5p	CLIP-seq
MIRT768025	hsa-miR-4452	CLIP-seq
MIRT768026	hsa-miR-4456	CLIP-seq
MIRT768027	hsa-miR-4521	CLIP-seq
MIRT768028	hsa-miR-4534	CLIP-seq
MIRT768029	hsa-miR-4642	CLIP-seq
MIRT768030	hsa-miR-4680-3p	CLIP-seq
MIRT768031	hsa-miR-4778-5p	CLIP-seq
MIRT768032	hsa-miR-548q	CLIP-seq
MIRT768033	hsa-miR-876-3p	CLIP-seq
MIRT768034	hsa-miR-888	CLIP-seq
MIRT768035	hsa-miR-96	CLIP-seq
MIRT1926528	hsa-miR-1226	CLIP-seq
MIRT1926529	hsa-miR-3692	CLIP-seq
MIRT1926530	hsa-miR-4443	CLIP-seq
MIRT2443219	hsa-miR-1913	CLIP-seq
MIRT2443220	hsa-miR-214	CLIP-seq
MIRT2443221	hsa-miR-216a	CLIP-seq
MIRT768018	hsa-miR-3148	CLIP-seq
MIRT2443222	hsa-miR-3152-5p	CLIP-seq
MIRT2443223	hsa-miR-3173-5p	CLIP-seq
MIRT2443224	hsa-miR-324-3p	CLIP-seq
MIRT2443225	hsa-miR-3619-5p	CLIP-seq
MIRT2443226	hsa-miR-3691-3p	CLIP-seq
MIRT2443227	hsa-miR-3909	CLIP-seq
MIRT2443228	hsa-miR-4291	CLIP-seq
MIRT2443229	hsa-miR-4307	CLIP-seq
MIRT2443230	hsa-miR-4313	CLIP-seq
MIRT2443231	hsa-miR-4655-3p	CLIP-seq
MIRT2443232	hsa-miR-4734	CLIP-seq
MIRT2443233	hsa-miR-503	CLIP-seq
MIRT2443234	hsa-miR-567	CLIP-seq
MIRT2443235	hsa-miR-761	CLIP-seq
MIRT2443236	hsa-miR-922	CLIP-seq
MIRT2443220	hsa-miR-214	CLIP-seq
MIRT2443221	hsa-miR-216a	CLIP-seq
MIRT768018	hsa-miR-3148	CLIP-seq
MIRT2443225	hsa-miR-3619-5p	CLIP-seq
MIRT2443226	hsa-miR-3691-3p	CLIP-seq
MIRT2443228	hsa-miR-4291	CLIP-seq
MIRT2443233	hsa-miR-503	CLIP-seq
MIRT2443235	hsa-miR-761	CLIP-seq
MIRT2443236	hsa-miR-922	CLIP-seq

Show/Hide all(38)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0001973	Process	G protein-coupled adenosine receptor signaling pathway	IEA
GO:0004016	Function	Adenylate cyclase activity	IBA
GO:0004016	Function	Adenylate cyclase activity	IDA	15385642, 24700542
GO:0004016	Function	Adenylate cyclase activity	IEA
GO:0004016	Function	Adenylate cyclase activity	IMP	24740569
GO:0005524	Function	ATP binding	IEA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISS
GO:0005886	Component	Plasma membrane	TAS
GO:0005929	Component	Cilium	IEA
GO:0005929	Component	Cilium	ISS
GO:0006171	Process	CAMP biosynthetic process	IBA
GO:0006171	Process	CAMP biosynthetic process	IDA	15385642, 24700542
GO:0006171	Process	CAMP biosynthetic process	IEA
GO:0006171	Process	CAMP biosynthetic process	IMP	24740569
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IBA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IEA
GO:0007189	Process	Adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	24700542
GO:0007191	Process	Adenylate cyclase-activating dopamine receptor signaling pathway	IEA
GO:0007195	Process	Adenylate cyclase-inhibiting dopamine receptor signaling pathway	IEA
GO:0007204	Process	Positive regulation of cytosolic calcium ion concentration	IMP	24740569
GO:0007626	Process	Locomotory behavior	IEA
GO:0008179	Function	Adenylate cyclase binding	IEA
GO:0008179	Function	Adenylate cyclase binding	ISS
GO:0009190	Process	Cyclic nucleotide biosynthetic process	IEA
GO:0016020	Component	Membrane	IDA	15385642
GO:0016020	Component	Membrane	IEA
GO:0016829	Function	Lyase activity	IEA
GO:0016849	Function	Phosphorus-oxygen lyase activity	IEA
GO:0035556	Process	Intracellular signal transduction	IEA
GO:0042995	Component	Cell projection	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0050885	Process	Neuromuscular process controlling balance	IEA
GO:0061178	Process	Regulation of insulin secretion involved in cellular response to glucose stimulus	IMP	24740569
GO:0097110	Function	Scaffold protein binding	IEA
GO:1904322	Process	Cellular response to forskolin	IDA	15385642, 24700542

MIM	HGNC	e!Ensembl
600293	236	ENSG00000173175

Protein

UniProt ID

O95622

Protein name

Adenylate cyclase type 5 (EC 4.6.1.1) (ATP pyrophosphate-lyase 5) (Adenylate cyclase type V) (Adenylyl cyclase 5) (AC5)

Protein function

Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:24700542, PubMed:26206488). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(

PDB

8SL3 , 8SL4

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF16214	AC_N	1 → 458	Adenylyl cyclase N-terminal extracellular and transmembrane region	Family
PF00211	Guanylate_cyc	460 → 642	Adenylate and Guanylate cyclase catalytic domain	Domain
PF06327	DUF1053	668 → 761	Domain of Unknown Function (DUF1053)	Family
PF00211	Guanylate_cyc	1062 → 1256	Adenylate and Guanylate cyclase catalytic domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Detected in pancreas islets (at protein level). Expressed in the brain, with high expression in the corpus striatum (PubMed:26085604). {ECO:0000269|PubMed:24740569, ECO:0000269|PubMed:26085604}.

Sequence

MSGSKSVSPPGYAAQKTAAPAPRGGPEHRSAWGEADSRANGYPHAPGGSARGSTKKPGGA
VTPQQQQRLASRWRSDDDDDPPLSGDDPLAGGFGFSFRSKSAWQERGGDDCGRGSRRQRR
GAASGGSTRAPPAGGGGGSAAAAASAGGTEVRPRSVEVGLEERRGKGRAADELEAGAVEG
GEGSGDGGSSADSGSGAGPGAVLSLGACCLALLQIFRSKKFPSDKLERLYQRYFFRLNQS
SLTMLMAVLVLVCLVMLAFHAARPPLQLPYLAVLAAAVGVILIMAVLCNRAAFHQDHMGL
ACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAAVLSGVLLSAL
HLAIALRTNAQDQFLLKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLH
SQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTS
LASQCTAQELVMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEM
GMDMIEAISLVREVTGVNVNMRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGK
AGRIHITKATLNYLNGDYEVEPGCGGERNAYLKEHSIETFLILRCTQKRKEEKAMIAKMN
RQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFEDPKDKNAQESANPEDEVDEFL
GRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASLVFLFICFVQI
TIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVF
TITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSP
WPNCNFPEYFTYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADL
LVTANAIDFFNNGTSQCPEHATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKL
QATEEKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDELYYQSCECVAVMFASIANF
SEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLEKIKTIGSTYMAASGLNDSTY
DKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIGARKPQYDIWG
NTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPL
S

Sequence length

1261

Interactions

View interactions

Show/Hide Causal Diseases (1)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Dyskinesia, Limb And Orofacial	Dyskinesia with orofacial involvement, autosomal dominant, Dyskinesia with orofacial involvement, autosomal recessive	rs1576606282, rs864309483, rs797045002, rs864309515, rs1365372289, rs1553751262, rs1576526285, rs910314734, rs1576704514, rs1553726054, rs864309484, rs1576606182, rs796065306	N/A

Show/Hide Unknown Diseases (5)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Diabetes	Type ii diabetes, Type 2 diabetes (adjusted for BMI), Type 2 diabetes with neurological manifestations (PheCode 250.24), Type 2 diabetes with ophthalmic manifestations (PheCode 250.23), Type 2 diabetes (PheCode 250.2), Type 2 diabetes, Diabetes, Body mass index and type 2 diabetes (pairwise), Body fat percentage and type 2 diabetes (pairwise), Mild age-related type 2 diabetes, Type 2 diabetes (adjusted for BMI) or polycystic ovary syndrome (pleiotropy)	N/A	N/A	GWAS
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	distal myopathy with posterior leg and anterior hand involvement	N/A	N/A	ClinVar
Heart Failure	Heart failure	N/A	N/A	GWAS
Kidney Disease	Chronic kidney disease	N/A	N/A	GWAS
Neurodevelopmental Disorders	neurodevelopmental disorder	N/A	N/A	GenCC

Show/Hide Text Mining Associations (45)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adenocarcinoma of Lung	Associate	35567329
Apraxia oculomotor Cogan type	Associate	27061943
Breast Neoplasms	Inhibit	35697697
Breast Neoplasms	Associate	36705562
Carcinoma Intraductal Noninfiltrating	Associate	35697697
Cardiomyopathy Dilated	Associate	27427220
Cerebral Palsy	Associate	28511835, 32647899
Chorea	Associate	26085604, 26537056, 27061943, 28511835, 36054588
Choreoathetosis Hypothyroidism And Neonatal Respiratory Distress	Associate	27061943
Colorectal Neoplasms	Associate	35545337
Diabetes Mellitus	Associate	25375650, 34801028
Diabetes Mellitus Type 2	Associate	20081857, 20081858, 20490451, 21712988, 21949744, 23193118, 23202124, 23462794, 24740569, 26168825, 27896934, 28684635, 29412141, 30089489, 31123324, 32163478 View all (1 more)
Diabetes Mellitus Type 2	Stimulate	27896934, 30089489
Dyskinesia Drug Induced	Associate	22782511, 24700542, 26085604, 26537056, 27061943, 28229249, 30772269, 32647899
Dyskinesia Familial with Facial Myokymia	Associate	22782511, 24700542
Dystonia	Associate	26085604, 26537056, 27061943, 28511835, 31731261, 35041927
Dystonia Focal Task Specific	Associate	26537056
Episodic Ataxia	Associate	26537056
Facial Nerve Diseases	Associate	22782511, 24700542, 26085604, 27061943
Glucose Metabolism Disorders	Associate	21712988, 21789219, 26168825
Head and Neck Neoplasms	Associate	28511835
Hyperglycemia	Associate	33513366
Hyperkinesis	Associate	26537056, 28511835, 32647899, 36054588
Hypertriglyceridemia	Associate	36233117
Hypoplastic Left Heart Syndrome	Associate	24793904
Hypoxia	Associate	38188159
Hypoxia Brain	Associate	38188159
Insulin Resistance	Associate	21789219, 32163478
Intellectual Disability	Associate	27061943
Leukemia Lymphocytic Chronic B Cell	Associate	20484983
Movement Disorders	Associate	22782511, 24700542, 28511835, 32647899
Multiple Sulfatase Deficiency Disease	Associate	39931922
Muscle Hypertonia	Associate	26537056
Muscle Hypotonia	Associate	26537056, 27061943
Muscular Diseases	Associate	28511835
Myoclonic dystonia	Associate	28229249
Myoclonus	Associate	26537056, 27061943, 28511835
Neoplasms	Associate	23544068
Obesity	Associate	21789219
Pneumonia Lipid	Associate	36233117
Polycystic Kidney Autosomal Dominant	Associate	22952279
Prostatic Neoplasms	Associate	23193118
Reperfusion Injury	Associate	38188159
Speech Disorders	Associate	39931922
Wolfram Like Syndrome Autosomal Dominant	Associate	26168825

ADCY5 (adenylate cyclase 5)