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ADCY5 Gene

protein-coding   GIFtS: 66
GCID: GC03M122949

Adenylate Cyclase 5

  See ADCY5-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Adenylate Cyclase 51 2     EC 4.6.1.13 8
Adenylate Cyclase Type V2 3     FDFM2 5
Adenylyl Cyclase 52 3     AC52
ATP Pyrophosphate-Lyase 52 3     Adenylate Cyclase Type 52

External Ids:    HGNC: 2361   Entrez Gene: 1112   Ensembl: ENSG000001731757   OMIM: 6002935   UniProtKB: O956223   

Export aliases for ADCY5 gene to outside databases

Previous GC identifers: GC03M119766 GC03M124282 GC03M124323 GC03M124324 GC03M124486 GC03M120376


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ADCY5 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 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)

GeneCards Summary for ADCY5 Gene:
ADCY5 (adenylate cyclase 5) is a protein-coding gene. Diseases associated with ADCY5 include dyskinesia, familial, with facial myokymia, and myokymia. GO annotations related to this gene include adenylate cyclase binding and protein heterodimerization activity. An important paralog of this gene is ADCY2.

UniProtKB/Swiss-Prot: ADCY5_HUMAN, O95622
Function: This is a membrane-bound, calcium-inhibitable adenylyl cyclase

summary for ADCY5 Gene:
Adenylyl Cyclases (AC) are a group of enzymes that convert adenosine-5'-triphosphate (ATP) into
3',5'-adenosine monophosphate (cAMP) and pyrophosphate. There are ten different mammalian isoforms of AC;
nine are membrane-bound, which are all found in, but not limited to, excitable tissues such as neurons and
muscle, and one soluble form (sAC), which is expressed predominantly in the testis. The ten adenylyl cyclase
isoforms can be divided into five distinct families based on their functional attributes; AC1, AC3 and AC8
are Ca2+-calmodulin-sensitive; AC2, AC4 and AC7 are Gbetagamma-stimulatory forms; AC5 and AC6 are
distinguished by their insensitivity to inhibition by both Ca2+ and Galphai; AC9 is forskolin-insensitive
and sAC is similar to cyanobacteria AC. Adenylyl cyclases are regulated by post-translational modifications,
phosphorylation, G proteins, forskolin, pyrophosphate, calcium and calmodulin and the functions of this
enzyme are diverse. Perturbations in adenylyl cyclase activity has been implicated in alcholol and opioid
addiction and is associated with human diseases, including thyroid adenoma, male precocious puberty and
chondrodysplasia.

Gene Wiki entry for ADCY5 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NT_005612.17  NC_018914.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADCY5 gene promoter:
         E2F-4   NRSF form 1   E2F-2   NRSF form 2   CREB   E2F   E2F-1   deltaCREB   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADCY5 promoter sequence
   Search Chromatin IP Primers for ADCY5

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADCY5


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3q21.1   Ensembl cytogenetic band:  3q21.1   HGNC cytogenetic band: 3q21.1

ADCY5 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADCY5 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03M122949:  view genomic region     (about GC identifiers)

Start:
123,001,143 bp from pter      End:
123,168,605 bp from pter
Size:
167,463 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ADCY5_HUMAN, O95622 (See protein sequence)
Recommended Name: Adenylate cyclase type 5  
Size: 1261 amino acids; 138908 Da
Cofactor: Binds 2 magnesium ions per subunit (By similarity)
Subunit: Part of a complex containing AKAP5, ADCY6, PDE4C and PKD2 (By similarity). Interacts with RAF1
Secondary accessions: B7Z8A6 Q7RTV7 Q8NFM3
Alternative splicing: 2 isoforms:  O95622-1   O95622-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADCY5: NX_O95622

Explore proteomics data for ADCY5 at MOPED

Post-translational modifications: 

  • Phosphorylated by RAF11
  • Ubiquitination2 at Lys1193
  • Glycosylation2 at Asn870, Asn887
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ADCY5 (O95622) (see all 41)
     AGRIHIT  RGGPEHR  FHKIYIQ  TVNVASR 


    See ADCY5 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001186571.1  NP_899200.1  

    ENSEMBL proteins: 
     ENSP00000419361   ENSP00000418537   ENSP00000308685   ENSP00000420082   ENSP00000420252  
     ENSP00000417789  
    Reactome Protein details: O95622

    ADCY5 Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ADCY5
    GenScript Custom Purified and Recombinant Proteins Services for ADCY5
    Novus Biologicals ADCY5 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ADCY5

     
    Search eBioscience for Proteins for ADCY5 

     
    antibodies-online proteins for ADCY5 (5 products) 

     
    antibodies-online peptides for ADCY5

    ADCY5 Antibody Products:

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    Novus Biologicals ADCY5 Antibodies
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    antibodies-online antibodies for ADCY5 (30 products) 

    ADCY5 Assay Products:

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    Cloud-Clone Corp. ELISAs for ADCY5
    Cloud-Clone Corp. CLIAs for ADCY5
    Search eBioscience for ELISAs for ADCY5 
    antibodies-online kits for ADCY5 (11 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ADCY: Adenylate cyclases

    IUPHAR Guide to PHARMACOLOGY protein family classification: AC5
    Adenylyl cyclases

    3 InterPro protein domains:
     IPR009398 Adenylate_cyclase-like
     IPR001054 A/G_cyclase
     IPR018297 A/G_cyclase_CS

    Graphical View of Domain Structure for InterPro Entry O95622

    ProtoNet protein and cluster: O95622

    1 Blocks protein domain: IPB009398 Adenylate cyclase-like

    UniProtKB/Swiss-Prot: ADCY5_HUMAN, O95622
    Similarity: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family
    Similarity: Contains 2 guanylate cyclase domains


    Find genes that share domains with ADCY5           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ADCY5_HUMAN, O95622
    Function: This is a membrane-bound, calcium-inhibitable adenylyl cyclase
    Catalytic activity: ATP = 3',5'-cyclic AMP + diphosphate
    Enzyme regulation: Inhibition by calcium in the submicromolar concentration range (By similarity). Phosphorylation
    by RAF1 results in its activation

         Genatlas biochemistry entry for ADCY5:
    adenylyl cyclase,type V,ubiquitous

         Enzyme Number (IUBMB): EC 4.6.1.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000166nucleotide binding ----
    GO:0004016adenylate cyclase activity IEA--
    GO:0005515protein binding ----
    GO:0005524ATP binding IEA--
    GO:0008179adenylate cyclase binding ISS--
         
    Find genes that share ontologies with ADCY5           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ADCY5:
     Increased Salmonella enterica   Increased cilium length after  

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Adcy5):
     behavior/neurological  homeostasis/metabolism 

    Find genes that share phenotypes with ADCY5           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ADCY5: Adcy5tm1Yish Adcy5tm1Plhn

       genOway: Develop your customized and physiologically relevant rodent model for ADCY5

    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ADCY5 (see all 60):
    hsa-miR-4328 hsa-miR-507 hsa-miR-449a hsa-miR-374c hsa-miR-9 hsa-miR-133a hsa-miR-3908 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ADCY5

    Gene Editing
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    Clone
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    OriGene ORF clones in mouse, rat for ADCY5
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ADCY5 (NM_183357)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADCY5
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADCY5

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for ADCY5 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCY5


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ADCY5_HUMAN, O95622: Membrane; Multi-pass membrane protein. Cell projection, cilium (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane3
    cytoskeleton1
    cytosol1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0016020membrane ----
    GO:0016021integral component of membrane IEA--
    GO:0072372primary cilium ISS--

    Find genes that share ontologies with ADCY5           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ADCY5 About   (see all 58)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Ca-dependent events
    DAG and IP3 signaling0.94
    Opioid Signalling0.54
    EGFR interacts with phospholipase C-gamma0.94
    Beta 2 adrenergic dependent CFTR expression0.50
    PLC-gamma1 signalling0.94
    Neurophysiological process PGE2 induced pain processing0.38
    CaM pathway0.93
    Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling0.33
    2Adenylate cyclase inhibitory pathway
    Adenylate cyclase inhibitory pathway0.53
    Inhibition of adenylate cyclase pathway0.00
    LPA4-mediated signaling events0.53
    Adenylate cyclase activating pathway0.00
    3Development Endothelin 1 EDNRA signaling
    Development Endothelin 1 EDNRA signaling0.41
    Inflammatory mediator regulation of TRP channels0.37
    GnRH signaling pathway0.38
    Estrogen signaling pathway0.34
    4Regulation of Water Balance by Renal Aquaporins
    Regulation of Water Balance by Renal Aquaporins0.85
    Glucagon signaling in metabolic regulation0.70
    Aquaporin-mediated transport0.85
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40
    5ADP signalling through P2Y purinoceptor 12
    Inhibition of Insulin Secretion by Adrenaline/Noradrenaline0.64
    Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.34
    G alpha (z) signalling events0.47


    Find genes that share SuperPaths with ADCY5           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ADCY5 (see all 23)
        MAPK Signaling
    PKA Signaling
    Molecular Mechanisms of Cancer
    Relaxin Pathway
    G-AlphaI Signaling

    Selected GeneGo (Thomson Reuters) Pathways for ADCY5 (see all 15)
        Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction cAMP signaling
    Signal transduction PKA signaling
    Development Endothelin-1/EDNRA signaling
    Regulation of CFTR activity (norm and CF)

    Selected BioSystems Pathways for ADCY5 (see all 6)
        Myometrial Relaxation and Contraction Pathways
    G Protein Signaling Pathways
    Calcium Regulation in the Cardiac Cell
    LPA receptor mediated events
    Endothelins

    Selected Reactome Pathways for ADCY5 (see all 11)
        PKA activation
    PKA activation in glucagon signalling
    G alpha (z) signalling events
    Glucagon-like Peptide-1 (GLP1) regulates insulin secretion
    Adenylate cyclase inhibitory pathway

    2 PharmGKB Pathways for ADCY5
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for ADCY5) (see all 34):
        Purine metabolism
    Rap1 signaling pathway
    Chemokine signaling pathway
    Oocyte meiosis
    Adrenergic signaling in cardiomyocytes

        Pathway & Disease-focused RT2 Profiler PCR Array including ADCY5: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ADCY5

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ADCY5 (O956223 ENSP000004193614) via UniProtKB, MINT, STRING, and/or I2D (see all 307)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADCY2Q084623, ENSP000003429524I2D: score=3 STRING: ENSP00000342952
    GNASQ5JWF23, ENSP000003601414I2D: score=1 STRING: ENSP00000360141
    ITPR1Q146433, ENSP000004059344I2D: score=1 STRING: ENSP00000405934
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    GNAI1P630963, ENSP000003430274I2D: score=2 STRING: ENSP00000343027
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 22):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001973adenosine receptor signaling pathway IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006833water transport TAS--
    GO:0007165signal transduction TAS--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--

    Find genes that share ontologies with ADCY5           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ADCY5 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    SQ 22536Adenylyl cyclase inhibitor[17318-31-9]
    NKH 477Water-soluble adenylyl cyclase activator[138605-00-2]
    MDL 12330A hydrochlorideAdenylyl cyclase inhibitor; also cyclic nucleotide PDE inhibitor[40297-09-4]
    KH 7Selective soluble adenylyl cyclase inhibitor[330676-02-3]
    PACAP 1-27Potent stimulator of adenylyl cyclase[127317-03-7]

    Selected HMDB Compounds for ADCY5 (see all 11)    About this table
    CompoundSynonyms CAS #PubMed Ids
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    CalciumCa (see all 2)7440-70-2--
    Cyclic AMPCyclic AMP (see all 19)60-92-4--
    Cyclic GMP3',5'-cyclic GMP (see all 13)7665-99-8--
    Guanosine triphosphate5'-GTP (see all 10)86-01-1--
    MagnesiumMagnesium (see all 2)7439-95-4--
    NAD3-Carbamoyl-1-D-ribofuranosylpyridinium hydroxide 5'-ester with adenosine 5'-pyrophosphate (see all 28)53-84-9--
    NADH1,4-Dihydronicotinamide adenine dinucleotide (see all 17)58-68-4--
    Phosphoric acidacide phosphorique (FRENCH) (see all 20)7664-38-2--
    Pyrophosphate(4-)Diphosphoric acid ion (see all 10)14000-31-8--

    2 DrugBank Compounds for ADCY5    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2',5'-DIDEOXY-ADENOSINE 3'-MONOPHOSPHATE-- --target--10592235
    Forskolin-- 64657-11-0target--10592235

    1 IUPHAR Ligand for ADCY5 (AC5)    About this table
    LigandTypeActionAffinityPubmed IDs
    NKY80
    InhibitorInhibition11602596

    3 Novoseek inferred chemical compound relationships for ADCY5 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 58.2 7 19846118 (2), 14724153 (1), 15550390 (1), 16527269 (1) (see all 6)
    dopamine 11.1 1 16943566 (1)
    nitric oxide 1.2 1 10781930 (1)



    Find genes that share compounds with ADCY5           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ADCY5 gene (2 alternative transcripts): 
    NM_001199642.1  NM_183357.2  

    Unigene Cluster for ADCY5:

    Adenylate cyclase 5
    Hs.593292  [show with all ESTs]
    Unigene Representative Sequence: NM_183357
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000462833(uc021xdd.1 uc003egg.2 uc003egh.2) ENST00000491190
    ENST00000478092 ENST00000309879 ENST00000474577 ENST00000466617(uc003egi.1)
    ENST00000468683 ENST00000483566 ENST00000476455 ENST00000470367
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ADCY5 (see all 60):
    hsa-miR-4328 hsa-miR-507 hsa-miR-449a hsa-miR-374c hsa-miR-9 hsa-miR-133a hsa-miR-3908 hsa-miR-3613-3p
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    GenScript: all cDNA clones in your preferred vector (see all 2): ADCY5 (NM_183357)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADCY5
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADCY5
      QuantiTect SYBR Green Assays in human, mouse, rat ADCY5
      QuantiFast Probe-based Assays in human, mouse, rat ADCY5

    Additional mRNA sequence: 

    AF497517.1 AK093840.1 AK098381.1 AK124691.1 AK294565.1 AK302711.1 AK303070.1 AK316488.1 
    BX647739.1 U65473.1 

    6 DOTS entries:

    DT.99985583  DT.111136  DT.97802548  DT.120909730  DT.95375838  DT.99968921 

    Selected AceView cDNA sequences (see all 80):

    BF430935 BX111767 BM720734 Z39712 CA488920 BK000371 AA042912 U65473 
    BI040151 NM_183357 AI923941 AK098381 CF551855 BX642336 AF497517 AA609785 
    BI040156 BM690037 AA338981 AK124691 AW471239 AI693372 AI218521 CA392576 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ADCY5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAAATTGAAA
    ADCY5 Expression
    About this image


    ADCY5 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Lung (Respiratory System)    fully expand to see all 2 entries
             Stem Bronchi
     
     Neural Tube (Nervous System)    fully expand to see all 2 entries
             Metencephalon
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Adipose (Muscoskeletal System)
             Visceral White Adipose
    ADCY5 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADCY5 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.593292
        Pathway & Disease-focused RT2 Profiler PCR Array including ADCY5: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for ADCY5 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adcy51 , 5 adenylate cyclase 51, 5 89.48(n)1
    94.29(a)1
      16 (24.71 cM)5
    2241291  NM_001012765.41  NP_001012783.31 
     351556365 
    chicken
    (Gallus gallus)
    Aves ADCY51 adenylate cyclase 5 75.77(n)
    82.01(a)
      395340  NM_204631.1  NP_989962.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADCY56
    adenylate cyclase 5
    88(a)
    1 ↔ 1
    1(79492168-79570603)
    zebrafish
    (Danio rerio)
    Actinopterygii adcy51 adenylate cyclase 5 74.08(n)
    79.29(a)
      562619  NM_001171585.2  NP_001165056.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG433731 CG43373 59.8(n)
    52.68(a)
      39835  NM_001104152.3  NP_001097622.2 
    worm
    (Caenorhabditis elegans)
    Secernentea acy-41 acy-4 49.31(n)
    42.07(a)
      178949  NM_072085.5  NP_504486.4 


    ENSEMBL Gene Tree for ADCY5 (if available)
    TreeFam Gene Tree for ADCY5 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADCY5 gene
    ADCY22  GUCY2D2  GUCY2C2  NPR12  ADCY82  GUCY2F2  GUCY1A22  ADCY72  
    ADCY92  GUCY1B32  ADCY62  ADCY12  GUCY1A32  ADCY42  NPR22  ADCY32  
    11 SIMAP similar genes for ADCY5 using alignment to 5 protein entries:     ADCY5_HUMAN (see all proteins):
    ADCY6    ADCY7    ADCY1    ADCY3    ADCY4    GUCY1A3
    ADCY8    GUCY1B3    ADCY2    NPR1    DKFZp686J099

    Find genes that share paralogs with ADCY5           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ADCY5 (see all 3825)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0688214
    Dyskinesia, familial, with facial myokymia (FDFM)4--see VAR_0688212 A T mis40--------
    rs1439054231,2
    C--120488040(+) AGCCCA/GGGGGG 1 -- int10--------
    rs622624331,2
    C,F--120488255(+) AGCCCC/GGAGGT 1 -- int18Minor allele frequency- G:0.38NA CSA WA EA 367
    rs1161039271,2
    F--120488508(+) AAGCGG/AAGCCC 1 -- int11Minor allele frequency- A:0.06WA 118
    rs1486327751,2
    --120488523(+) GCTCTC/TGGGGC 1 -- int10--------
    rs1874974671,2
    --123000732(+) TGTTCA/CATGCC 2 -- ds50010--------
    rs1868220061,2
    C--123000768(+) GCATAC/TAAACA 2 -- ds50010--------
    rs729624821,2
    C,F--123000949(+) TGCTAT/CGGTCA 2 -- ds50014Minor allele frequency- C:0.37WA CSA 124
    rs729624851,2
    C,F--123001022(+) CCCCCA/GCTCAG 2 -- ds50012Minor allele frequency- G:0.15WA 120
    rs1452604431,2
    --123001047(+) CTCTGC/TGGCTC 2 -- ds50010--------

    HapMap Linkage Disequilibrium report for ADCY5 (123001143 - 123168605 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for ADCY5:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2627675CNV Insertion19546169
    nsv3976CNV Insertion18451855
    esv272701CNV Insertion20981092
    nsv829707CNV Loss17160897
    esv21931CNV Loss19812545
    nsv877395CNV Gain21882294
    nsv822229CNV Gain20364138
    nsv877396CNV Gain21882294

    Human Gene Mutation Database (HGMD): ADCY5
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADCY5
    DNA2.0 Custom Variant and Variant Library Synthesis for ADCY5

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 600293   
    OMIM disorders: 606703  
    UniProtKB/Swiss-Prot: ADCY5_HUMAN, O95622
  • Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]: A disorder characterized by predominantly
    perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal
    and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life,
    but in some individuals, they may diminish in frequency and severity at older ages. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 5 diseases for ADCY5:    
    About MalaCards
    dyskinesia, familial, with facial myokymia    myokymia    thyroid adenoma    precocious puberty
    adenoma

    1 disease from the University of Copenhagen DISEASES database for ADCY5:
    Cholera

    Find genes that share disorders with ADCY5           About GenesLikeMe

    Genetic Association Database (GAD): ADCY5
    Human Genome Epidemiology (HuGE) Navigator: ADCY5 (13 documents)

    Export disorders for ADCY5 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ADCY5 gene, integrated from 10 sources (see all 67):
    (articles sorted by number of sources associating them with ADCY5)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues. (PubMed id 10481931)1, 2, 3 Raimundo S.... Wisser H. (Clin. Chim. Acta 1999)
    2. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PubMed id 20571754)1, 4 Fontaine-Bisson B....Franks P.W. (Diabetologia 2010)
    3. Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight. (PubMed id 20490451)1, 4 Andersson E.A....Pedersen O. (Diabetologia 2010)
    4. Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. (PubMed id 20081857)1, 4 Saxena R....Watanabe R.M. (Nat. Genet. 2010)
    5. New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. (PubMed id 20081858)1, 4 Dupuis J....Barroso I. (Nat. Genet. 2010)
    6. Variants at DGKB/TMEM195, ADRA2A, GLIS3 and C2CD4B loci are associated with reduced glucose-stimulated beta cell function in middle-aged Danish people. (PubMed id 20419449)1, 4 Boesgaard T.W....Pedersen O. (Diabetologia 2010)
    7. Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight. (PubMed id 20372150)1, 4 Freathy R.M....McCarthy M.I. (Nat. Genet. 2010)
    8. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (Nature 2006)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    10. Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms. (PubMed id 12503609)1, 2 Ludwig M.G. and Seuwen K. (J. Recept. Signal Transduct. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 111 HGNC: 236 AceView: ADCY5 Ensembl:ENSG00000173175 euGenes: HUgn111
    ECgene: ADCY5 Kegg: 111 H-InvDB: ADCY5

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ADCY5 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ADCY5 gene:
    Search GeneIP for patents involving ADCY5

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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