ADCY2 Gene (Protein Coding)

Adenylate Cyclase 2

GC05P007396
GIFtS:
44
This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008] See more...

Aliases for ADCY2 Gene

Aliases for ADCY2 Gene

  • Adenylate Cyclase 2 2 3 5
  • Adenylate Cyclase 2 (Brain) 2 3
  • ATP Pyrophosphate-Lyase 2 3 4
  • Adenylate Cyclase Type II 3 4
  • Adenylate Cyclase Type 2 3 4
  • Adenylyl Cyclase 2 3 4
  • EC 4.6.1.1 4 50
  • KIAA1060 2 4
  • HBAC2 2 3
  • AC2 2 3
  • 3',5'-Cyclic AMP Synthetase 3
  • Type II Adenylate Cyclase 3
  • Adenylate Cyclase II 3
  • ADCY2 5

External Ids for ADCY2 Gene

Previous GeneCards Identifiers for ADCY2 Gene

  • GC05P007810
  • GC05P007429
  • GC05P007449

Summaries for ADCY2 Gene

Entrez Gene Summary for ADCY2 Gene

  • This gene encodes a member of the family of adenylate cyclases, which are membrane-associated enzymes that catalyze the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This enzyme is insensitive to Ca(2+)/calmodulin, and is stimulated by the G protein beta and gamma subunit complex. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADCY2 Gene

ADCY2 (Adenylate Cyclase 2) is a Protein Coding gene. Among its related pathways are Apelin signaling pathway and G-Beta Gamma Signaling. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and phosphorus-oxygen lyase activity. An important paralog of this gene is ADCY4.

UniProtKB/Swiss-Prot Summary for ADCY2 Gene

  • Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642). Down-stream signaling cascades mediate changes in gene expression patterns and lead to increased IL6 production. Functions in signaling cascades downstream of the muscarinic acetylcholine receptors (By similarity).

Tocris Summary for ADCY2 Gene

  • Adenylyl Cyclases (AC) are a group of enzymes that convert adenosine-5'-triphosphate (ATP) into 3',5'-adenosine monophosphate (cyclic AMP/cAMP) and pyrophosphate. There are ten different mammalian isoforms of adenylyl cylase; nine of which are membrane-bound.

Gene Wiki entry for ADCY2 Gene

Additional gene information for ADCY2 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADCY2 Gene

Genomics for ADCY2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for ADCY2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADCY2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ADCY2

Top Transcription factor binding sites by QIAGEN in the ADCY2 gene promoter:
  • AML1a
  • Arnt
  • Cart-1
  • E47
  • GATA-1
  • Nkx3-1
  • Nkx3-1 v1
  • Nkx3-1 v2
  • POU3F2
  • Tal-1

Genomic Locations for ADCY2 Gene

Latest Assembly
chr5:7,396,138-7,830,081
(GRCh38/hg38)
Size:
433,944 bases
Orientation:
Plus strand

Previous Assembly
chr5:7,396,251-7,830,194
(GRCh37/hg19 by Entrez Gene)
Size:
433,944 bases
Orientation:
Plus strand

chr5:7,396,321-7,830,194
(GRCh37/hg19 by Ensembl)
Size:
433,874 bases
Orientation:
Plus strand

Genomic View for ADCY2 Gene

Genes around ADCY2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCY2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCY2 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ADCY2 Gene

Proteins for ADCY2 Gene

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  • Protein details for ADCY2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q08462-ADCY2_HUMAN
    Recommended name:
    Adenylate cyclase type 2
    Protein Accession:
    Q08462
    Secondary Accessions:
    • B7Z2C1
    • Q2NKL8
    • Q9UDB2
    • Q9UPU2

    Protein attributes for ADCY2 Gene

    Size:
    1091 amino acids
    Molecular mass:
    123603 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with RAF1 (PubMed:15385642). Interacts with GNAS. Interacts with the G protein beta and gamma subunit complex (By similarity).

    Alternative splice isoforms for ADCY2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADCY2 Gene

Protein Expression for ADCY2 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for ADCY2 Gene

Q08462:
  • LNELFGKFD
  • SRMDSTGV
  • RIKILGDCYYC
  • ADIVGFT
  • TVNVASR
  • KIQVTEET
  • TRYLESWGAA
  • WQYDVWS
  • GNVLCGV
  • EKIKTIG
  • DVTLANHME
  • RLDFLWK
  • ATGVDINMRVG
  • QQERLLLS
  • NNFHNLYVKRH
  • FASIPDFKEFY
  • ECLRLLNEII

Post-translational modifications for ADCY2 Gene

Other Protein References for ADCY2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for ADCY2 Gene

Gene Families for ADCY2 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ADCY2 Gene

InterPro:
Blocks:
  • Adenylate cyclase-like

Suggested Antigen Peptide Sequences for ADCY2 Gene

GenScript: Design optimal peptide antigens:
  • Adenylyl cyclase 2 (ADCY2_HUMAN)
  • cDNA FLJ58757, highly similar to Adenylate cyclase type 2 (EC 4.6.1.1) (B7Z2C1_HUMAN)
  • Adenylyl cyclase type II (Q7RTV6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q08462

UniProtKB/Swiss-Prot:

ADCY2_HUMAN :
  • The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate-binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain.
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Domain:
  • The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate-binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with ADCY2: view

Function for ADCY2 Gene

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Molecular function for ADCY2 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642). Down-stream signaling cascades mediate changes in gene expression patterns and lead to increased IL6 production. Functions in signaling cascades downstream of the muscarinic acetylcholine receptors (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP = 3',5'-cyclic AMP + diphosphate; Xref=Rhea:RHEA:15389, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58165; EC=4.6.1.1; Evidence={ECO:0000269|PubMed:15385642};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by forskolin (PubMed:15385642). Is not activated by calmodulin. Inhibited by calcium ions, already at micromolar concentration. Activated by the G protein alpha subunit GNAS. Activated by the G protein beta and gamma subunit complex (By similarity). Phosphorylation by RAF1 results in its activation (PubMed:15385642). Phosphorylation by PKC activates the enzyme (By similarity).
GENATLAS Biochemistry:
adenylyl cyclase,type II,calmodulin insensitive,brain,lung

Enzyme Numbers (IUBMB) for ADCY2 Gene

Phenotypes From GWAS Catalog for ADCY2 Gene

Gene Ontology (GO) - Molecular Function for ADCY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IEA --
GO:0000287 magnesium ion binding ISS --
GO:0004016 adenylate cyclase activity IEA,NAS 1427768
GO:0005524 ATP binding IEA --
GO:0008179 adenylate cyclase binding ISS --
genes like me logo Genes that share ontologies with ADCY2: view
genes like me logo Genes that share phenotypes with ADCY2: view

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADCY2

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for ADCY2 Gene

Localization for ADCY2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCY2 Gene

Membrane. Multi-pass membrane protein. Cell membrane. Multi-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADCY2 gene
Compartment Confidence
plasma membrane 5
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for ADCY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA,IDA 11549699
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA,ISS --
GO:0016020 membrane IEA,ISS --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with ADCY2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADCY2 Gene

Pathways & Interactions for ADCY2 Gene

PathCards logo

SuperPathways for ADCY2 Gene

SuperPathway Contained pathways
1 DAG and IP3 signaling
DAG and IP3 signaling
.94
EGFR interacts with phospholipase C-gamma
.94
PLC-gamma1 signalling
.94
Ca-dependent events
.93
Calmodulin induced events
.93
CaM pathway
.93
PLC beta mediated events
.65
G-protein mediated events
.64
Opioid Signalling
.56
Beta-2 adrenergic-dependent CFTR expression
.50
G Protein Signaling Pathways
.44
Neurophysiological process PGE2-induced pain processing
.38
Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling
.33
Development Beta-adrenergic receptors signaling via cAMP
.32
Development Role of Activin A in cell differentiation and proliferation
.32
PKA activation
.01
PKA activation in glucagon signalling
.01
PKA-mediated phosphorylation of CREB
.01
2 RET signaling
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
Signaling by EGFR
.90
DAP12 interactions
.89
NGF signalling via TRKA from the plasma membrane
.87
Signalling by NGF
.81
3 Aldosterone synthesis and secretion
Aldosterone synthesis and secretion
.48
Cortisol synthesis and secretion
.48
Cushing syndrome
.41
Melanogenesis
.41
Insulin secretion
.36
Thyroid hormone synthesis
.34
4 G-Beta Gamma Signaling
G-Beta Gamma Signaling
.46
GHRH Signaling
.46
CRHR Pathway
.44
Relaxin Pathway
.37
Hedgehog Signaling in Mammals
.32
Signaling in Gap Junctions
.30
5 Activation of cAMP-Dependent PKA
Activation of cAMP-Dependent PKA
.77
cAMP Pathway
.77
Activation of PKA through GPCR
.71
PKA Signaling
.56
genes like me logo Genes that share pathways with ADCY2: view

Pathways by source for ADCY2 Gene

13 GeneGo (Thomson Reuters) pathways for ADCY2 Gene
  • Beta-2 adrenergic-dependent CFTR expression
  • Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
  • Development Beta-adrenergic receptors regulation of ERK
  • Development Beta-adrenergic receptors signaling via cAMP
  • Development Endothelin-1/EDNRA signaling
44 Qiagen pathways for ADCY2 Gene
  • Activation of cAMP-Dependent PKA
  • Activation of PKA through GPCR
  • Activation of PKC through GPCR
  • Alpha-Adrenergic Signaling
  • BAD Phosphorylation

SIGNOR curated interactions for ADCY2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ADCY2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis TAS --
GO:0006171 cAMP biosynthetic process ISS --
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007188 adenylate cyclase-modulating G protein-coupled receptor signaling pathway ISS --
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with ADCY2: view

Drugs & Compounds for ADCY2 Gene

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(26) Drugs for ADCY2 Gene - From: DrugBank, PharmGKB, ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aurothioglucose Approved, Withdrawn Pharma Target 0
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1763
Magnesium Approved, Experimental, Investigational Pharma 0
NADH Approved Nutra 0
Pyruvic acid Approved, Investigational Nutra 0

(3) Additional Compounds for ADCY2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(HO)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • Pyrophosphoric acid
 14000-31-8

(5) Tocris Compounds for ADCY2 Gene

Compound Action Cas Number
Forskolin Adenylyl cyclase activator 66575-29-9
KH 7 Selective soluble adenylyl cyclase inhibitor 330676-02-3
MDL 12330A hydrochloride Adenylyl cyclase inhibitor; also cyclic nucleotide PDE inhibitor 40297-09-4
NKH 477 Water-soluble adenylyl cyclase activator 138605-00-2
SQ 22536 Adenylyl cyclase inhibitor 17318-31-9

(8) ApexBio Compounds for ADCY2 Gene

Compound Action Cas Number
1,9-Dideoxyforskolin 64657-18-7
Forskolin 66575-29-9
KH 7 330676-02-3
MDL 12330A hydrochloride adenylate cyclase inhibitor 40297-09-4
N6-methyladenosine (m6A) adenylate cyclase regulator 1867-73-8
NKH 477 138605-00-2
NKY 80 299442-43-6
SQ 22536 17318-31-9
genes like me logo Genes that share compounds with ADCY2: view

Drug products for research

Transcripts for ADCY2 Gene

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mRNA/cDNA for ADCY2 Gene

1 REFSEQ mRNAs :
18 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ADCY2

Alternative Splicing Database (ASD) splice patterns (SP) for ADCY2 Gene

No ASD Table

Relevant External Links for ADCY2 Gene

GeneLoc Exon Structure for
ADCY2

Expression for ADCY2 Gene

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mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ADCY2 Gene

mRNA expression in normal human tissues for ADCY2 Gene
mRNA expression by GTEx for ADCY2 GenemRNA expression by BioGPS for ADCY2 Gene

mRNA differential expression in normal tissues according to GTEx for ADCY2 Gene

This gene is overexpressed in Muscle - Skeletal (x5.3), Brain - Anterior cingulate cortex (BA24) (x5.0), Brain - Frontal Cortex (BA9) (x4.8), Brain - Cortex (x4.4), and Brain - Amygdala (x4.1).

Protein differential expression in normal tissues from HIPED for ADCY2 Gene

This gene is overexpressed in Monocytes (32.6) and Frontal cortex (27.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADCY2 Gene



Protein tissue co-expression partners for ADCY2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ADCY2

SOURCE GeneReport for Unigene cluster for ADCY2 Gene:

Hs.481545

mRNA Expression by UniProt/SwissProt for ADCY2 Gene:

Q08462-ADCY2_HUMAN
Tissue specificity: Detected in zona glomerulosa and zona fasciculata in the adrenal gland (at protein level) (PubMed:11549699). Expressed in brain, especially in caudate nucleus, cerebellum and hippocampus.

Evidence on tissue expression from TISSUES for ADCY2 Gene

  • Nervous system(4.9)
  • Muscle(2.2)
  • Liver(2.2)
  • Skin(2.1)
  • Blood(2.1)
genes like me logo Genes that share expression patterns with ADCY2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADCY2 Gene

Orthologs for ADCY2 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADCY2 Gene

Organism Taxonomy Gene Similarity Type Details
Platypus
(Ornithorhynchus anatinus)
 Mammalia ADCY2 30
  • 92 (a)
 OneToOne
Dog
(Canis familiaris)
 Mammalia ADCY2 29 30
  • 90.21 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia ADCY2 29 30
  • 89.13 (n)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia ADCY2 30
  • 89 (a)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Adcy2 29 16 30
  • 88.42 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Adcy2 29
  • 88.23 (n)
Chicken
(Gallus gallus)
 Aves ADCY2 29 30
  • 80.51 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia ADCY2 30
  • 84 (a)
 OneToOne
Zebrafish
(Danio rerio)
 Actinopterygii adcy2a 29 30
  • 73.74 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta Ac76E 29 30 31
  • 53.83 (n)
 OneToMany
rut 31
  • 44 (a)
ACXD 31
  • 28 (a)
ACXA 31
  • 27 (a)
ACXB 31
  • 27 (a)
ACXC 31
  • 27 (a)
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP010436 29
  • 50.76 (n)
Worm
(Caenorhabditis elegans)
 Secernentea acy-4 31
  • 43 (a)
acy-2 30 31
  • 31 (a)
 OneToMany
Species where no ortholog for ADCY2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chimpanzee (Pan troglodytes)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)

Evolution for ADCY2 Gene

ENSEMBL:
Gene Tree for ADCY2 (if available)
TreeFam:
Gene Tree for ADCY2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADCY2: view image
Alliance of Genome Resources:
Additional Orthologs for ADCY2

Paralogs for ADCY2 Gene

Paralogs for ADCY2 Gene

(9) SIMAP similar genes for ADCY2 Gene using alignment to 5 proteins:

  • ADCY2_HUMAN
  • B7Z2C1_HUMAN
  • D6REB8_HUMAN
  • H0YA58_HUMAN
  • Q7RTV6_HUMAN
genes like me logo Genes that share paralogs with ADCY2: view

Variants for ADCY2 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ADCY2 Gene

SNP ID Clinical significance and condition Chr 05 pos Variation AA Info Type
rs139089777 Benign: not provided 7,712,907(+) ATC/A
NM_020546.3(ADCY2):c.1622+9TC[2] 		INTRON
rs148142196 Benign: not provided 7,804,593(+) C/G
NM_020546.3(ADCY2):c.2784C>G (p.Ser928=) 		SYNONYMOUS
rs386352276 Uncertain Significance: not provided 7,520,818(+) C/G
NM_020546.3(ADCY2):c.489C>G (p.Val163=) 		SYNONYMOUS
rs13166360 -- p.Val147Leu
rs34043481 -- p.Val163Ile

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for ADCY2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for ADCY2 Gene

Variant ID Type Subtype PubMed ID
dgv1574e212 CNV loss 25503493
dgv5562n100 CNV gain 25217958
dgv5563n100 CNV loss 25217958
dgv9564n54 CNV gain 21841781
esv22556 CNV loss 19812545
esv23386 CNV loss 19812545
esv2638984 CNV insertion 19546169
esv2676111 CNV deletion 23128226
esv2729708 CNV deletion 23290073
esv2763435 CNV loss 21179565
esv3303389 CNV mobile element insertion 20981092
esv3308547 CNV mobile element insertion 20981092
esv3327214 CNV insertion 20981092
esv3362134 CNV insertion 20981092
esv3565475 CNV deletion 23714750
esv3569948 CNV loss 25503493
esv3569949 CNV loss 25503493
esv3569952 CNV loss 25503493
esv3603933 CNV loss 21293372
esv3603935 CNV loss 21293372
esv8296 CNV gain 19470904
nsv1020779 CNV gain 25217958
nsv1111292 CNV tandem duplication 24896259
nsv1125835 CNV tandem duplication 24896259
nsv1125836 CNV tandem duplication 24896259
nsv1136967 CNV deletion 24896259
nsv1145052 CNV deletion 24896259
nsv327244 CNV deletion 16902084
nsv461926 CNV gain 19166990
nsv4704 CNV insertion 18451855
nsv476643 CNV novel sequence insertion 20440878
nsv517197 CNV gain 19592680
nsv596996 CNV loss 21841781
nsv596997 CNV gain 21841781
nsv596998 CNV loss 21841781
nsv597001 CNV gain 21841781
nsv597003 CNV gain 21841781
nsv597004 CNV gain 21841781
nsv830198 CNV gain 17160897
nsv950645 CNV duplication 24416366

Variation tolerance for ADCY2 Gene

Residual Variation Intolerance Score: 4.14% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.97; 74.73% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADCY2 Gene

Human Gene Mutation Database (HGMD)
ADCY2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADCY2
Leiden Open Variation Database (LOVD)
ADCY2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCY2 Gene

Disorders for ADCY2 Gene

Additional Disease Information for ADCY2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for ADCY2 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ADCY2 Gene

Publications for ADCY2 Gene

  1. Expression and regulation of adenylyl cyclase isoforms in the human adrenal gland. (PMID: 11549699) Côté M … Gallo-Payet N (The Journal of clinical endocrinology and metabolism 2001) 3 4 22
  2. Different chromosomal localization of two adenylyl cyclase genes expressed in human brain. (PMID: 1427768) Stengel D … Hanoune J (Human genetics 1992) 2 3 4
  3. Human bronchial smooth muscle cells express adenylyl cyclase isoforms 2, 4, and 6 in distinct membrane microdomains. (PMID: 21228062) Bogard AS … Ostrom RS (The Journal of pharmacology and experimental therapeutics 2011) 3 4
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 40
  5. Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis. (PMID: 19156168) Need AC … Goldstein DB (European journal of human genetics : EJHG 2009) 3 40

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