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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ADCY5 Gene

protein-coding   GIFtS: 65
GCID: GC03M122949

adenylate cyclase 5
 Explore 13 diseases affiliated with
ADCY5 via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ADCY5    

Aliases
for ADCY5 gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Adenylate Cyclase 51 2     ATP Pyrophosphate-Lyase 52 3
AC51 2     EC 4.6.1.13 8
Adenylate Cyclase Type V2 3     FDFM2
Adenylyl Cyclase 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


Summaries
for ADCY5 gene

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

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

summary for ADCY5:
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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_005612.16  
Regulatory elements:
   SABiosciences 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 plasmid: ADCY5 promoter sequence
   Search SABiosciences Chromatin IP Primers for ADCY5

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for ADCY5 gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
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
Subcellular location: Membrane; Multi-pass membrane protein. Cell projection, cilium (By similarity)
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

Post-translational modifications:

  • Phosphorylated by RAF11
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O95622

    • 4/41 DME Specific Peptides for ADCY5 (O95622) (see all 41)
     AGRIHIT  RGGPEHR  FHKIYIQ  TVNVASR 

    ADCY5 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000419361   ENSP00000418537   ENSP00000308685   ENSP00000420082   ENSP00000420252  
     ENSP00000417789  
    Reactome Protein details: O95622
    Human Recombinant Protein Products: 
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    Browse ProSpec Recombinant Proteins
    Uscn Proteins for ADCY5

    Gene Ontology (GO): 5/9 cellular component terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005622intracellular ----
    GO:0005624membrane fraction ----
    GO:0005768endosome ----
    GO:0005886plasma membrane TAS--
    GO:0016021integral to membrane IEA--


    ADCY5 for ontologies           About GeneDecksing



    ADCY5 Antibody Products: 
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    Uscn Antibodies for ADCY5
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    Uscn ELISAs and CLIAs for ADCY5

    Protein Domains /
    Families
    for ADCY5 gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    ADCY5 for domains           About GeneDecksing

    3 InterPro domains/families:
     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 family: 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


    Function
    for ADCY5 gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ADCY5
    8/60 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ADCY5 (see all 6)
    OriGene shRNA RFP: ADCY5
    OriGene siRNA: ADCY5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADCY5

    Gene Editing
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    Clone
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    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
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ADCY5 

    Cell Line
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    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCY5

    Gene Ontology (GO): 5/8 molecular function terms (GO ID links to tree view) (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--


    ADCY5 for ontologies           About GeneDecksing


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

    Animal Models:
         Mouse knock-outs for ADCY5: Adcy5tm1Plhn Adcy5tm1Yish
         2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Adcy5):
     behavior/neurological  homeostasis/metabolism 

    ADCY5 for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ADCY5 gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/52 super-pathways (see all 52) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Signaling by FGFR
    8/12 pathways (see all 12)
    		Signaling by FGFR1.00
    		DAP12 signaling0.83
    		Downstream signaling of activated FGFR0.92
    		Signaling by EGFR in Cancer0.83
    		Signaling by FGFR in disease0.91
    		DAP12 interactions0.76
    		Signaling by ERBB20.89
    		Signaling by PDGF0.72
    2PKA activation in glucagon signalling
    8/12 pathways (see all 12)
    		PKA activation in glucagon signalling1.00
    		Neurophysiological process_PGE2-induced pain processing0.44
    		PKA activation0.94
    		Inhibitory action of Lipoxin A4 on PDGF, EGF and LTD4 signaling0.37
    		PKA-mediated phosphorylation of CREB0.89
    		Development_Role of Activin A in cell differentiation and proliferation0.33
    		Regulation of CFTR gating (normal and CF)0.76
    		Development Role of Activin A in cell differentiation and proliferation0.33
    3DAG and IP3 signaling
    		DAG and IP3 signaling1.00
    		CaM pathway0.84
    		PLC-gamma1 signalling0.94
    		Calmodulin induced events0.84
    		EGFR interacts with phospholipase C-gamma0.94
    		Ca-dependent events0.79
    		PLCG1 events in ERBB2 signaling0.91
    		Phospholipase C-mediated cascade0.57
    4Regulation of Water Balance by Renal Aquaporins
    		Regulation of Water Balance by Renal Aquaporins1.00
    		G alpha (z) signalling events0.48
    		Aquaporin-mediated transport0.84
    		Cytoskeleton remodeling_Role of PKA in cytoskeleton reorganisation0.40
    		Glucagon signaling in metabolic regulation0.69
    		Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation0.40
    5Opioid Signalling
    		Opioid Signalling1.00
    		Beta-agonist/Beta-blocker Pathway, Pharmacodynamics0.35
    		G-protein mediated events0.55
    		Glutamatergic synapse0.31
    		PLC beta mediated events0.54

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    5/12 EMD Millipore Pathways for ADCY5 (see all 12)
        Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling
    Adenylate cyclase-activating neuropeptides
    Cytoskeleton remodeling Role of PKA in cytoskeleton reorganisation
    Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction cAMP signaling

    5/23 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for ADCY5 (see all 23)
        MAPK Signaling
    PKA Signaling
    Molecular Mechanisms of Cancer
    Relaxin Pathway
    G-AlphaI Signaling

    5/15 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)

    5/6 BioSystems Pathways for ADCY5 (see all 6) 
        Myometrial Relaxation and Contraction Pathways
    G Protein Signaling Pathways
    Calcium Regulation in the Cardiac Cell
    LPA4-mediated signaling events
    Endothelins

    5/53        Reactome Pathways for ADCY5 (see all 53)
        PKA activation
    Signaling by EGFR in Cancer
    G alpha (z) signalling events
    Downstream signal transduction
    Signal Transduction

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

    5/15         Kegg Pathways  (Kegg details for ADCY5) (see all 15):
        Purine metabolism
    Chemokine signaling pathway
    Oocyte meiosis
    Vascular smooth muscle contraction
    Gap junction


    ADCY5 for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for ADCY5

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

    5/298 Interacting proteins for ADCY5 (O956223 ENSP000004193614) via UniProtKB, MINT, STRING, and/or I2D (see all 298)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ADCY2Q084623, ENSP000003429524I2D: score=3 STRING: ENSP00000342952
    GNASQ5JWF23, ENSP000003601414I2D: score=1 STRING: ENSP00000360141
    PRKACAP176123, ENSP000003095914I2D: score=1 STRING: ENSP00000309591
    GNAI1P630963, ENSP000003430274I2D: score=2 STRING: ENSP00000343027
    PRKCAP172523, ENSP000002843844I2D: score=1 STRING: ENSP00000284384
    About this table

    Gene Ontology (GO): 5/21 biological process terms (GO ID links to tree view) (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001973adenosine receptor signaling pathway IEA--
    GO:0006112energy reserve metabolic process TAS--
    GO:0006171cAMP biosynthetic process ----
    GO:0006833water transport TAS--
    GO:0007165signal transduction TAS--


    ADCY5 for ontologies           About GeneDecksing



    Drugs & Compounds
    for ADCY5 gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ADCY5 for compounds           About GeneDecksing

    EMD Millipore small molecules for ADCY5:
    Small Molecule - inhibitor
    Browse drugs & compounds from Enzo Life Sciences

    Compounds for ADCY5 available from Tocris Bioscience    About this table
    CompoundAction CAS #
    BPIPPNon-competitive GC inhibitor. Also AC inhibitor[325746-94-9]
    NKH 477Water-soluble adenylyl cyclase activator[138605-00-2]
    ForskolinAdenylyl cyclase activator[66575-29-9]
    SQ 22536Adenylyl cyclase inhibitor[17318-31-9]
    PACAP 1-38Potent stimulator of adenylyl cyclase--

    10/11 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

    3 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ADCY5 

    Transcripts
    for ADCY5 gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ADCY5
    8/60 QIAGEN miScript miRNA 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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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ADCY5 (see all 6)
    OriGene shRNA RFP: ADCY5
    OriGene siRNA: ADCY5
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ADCY5
    Clone
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    Primer
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    Additional cDNA 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 

    24/80 AceView cDNA sequences (see all 80):

    BF430935 AF497517 AA338981 Z39712 BX111767 BI040156 CF551855 AK098381 
    AI923941 NM_183357 BI040151 U65473 BX642336 AA042912 CA488920 BM690037 
    BK000371 AI693372 BM720734 AK124691 AA609785 AW471239 H08559 BI036091 

    GeneLoc Exon Structure


    Expression
    for ADCY5 gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ADCY5 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GAAATTGAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ADCY5 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Human kidney epithelial cell spheroids (Kidney spheroids for...)
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See ADCY5 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ADCY5

    SOURCE GeneReport for Unigene cluster: Hs.593292
        SABiosciences Expression via Pathway-Focused PCR Array including ADCY5: 
              G-Protein-Coupled Receptor Signaling PathwayFinder in human mouse rat

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ADCY5
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    In Situ
    Assay Products:     
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    Orthologs
    for ADCY5 gene

    (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)
    About This Section
    This gene was present in the common ancestor of animals.

    Orthologs for ADCY5 gene from 5/23 species (see all 23)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ADCY51 adenylate cyclase 5 76.02(n)
    82.72(a)    		   395340  NM_204631.1  NP_989962.1 
    lizard
    (Anolis carolinensis)    		 Reptilia ADCY56
    		 --
    		 88(a)
    		 1 ↔ 1
    		 1(79492168-79570603)
    zebrafish
    (Danio rerio)    		 Actinopterygii adcy51 adenylate cyclase 5 73.9(n)
    79.66(a)    		   562619  NM_001171585.1  NP_001165056.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG433731 CG43373 59.21(n)
    52(a)    		   39835  NM_001104152.2  NP_001097622.2 
    worm
    (Caenorhabditis elegans)    		 Secernentea acy-41 Protein ACY-4 49.22(n)
    41.77(a)    		   178949  NM_072085.4  NP_504486.4 


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

    Paralogs
    for ADCY5 gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ADCY5 gene
    ADCY22  GUCY2D2  GUCY2C2  NPR12  ADCY82  GUCY2F2  GUCY1A22  ADCY72  
    ADCY92  GUCY1B32  ADCY62  GUCY1A32  ADCY12  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

    ADCY5 for paralogs           About GeneDecksing



    Genomic Variants
    for ADCY5 gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/3162 NCBI SNPs in ADCY5 are shown (see all 3162)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 3 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1874974671,2
    		--123000732(+) TGTTCA/CATGCC 2 -- ds50010--------
    rs729624821,2
    		C,F,--123000949(+) TGCTAT/CGGTCA 2 -- ds50014Minor allele frequency- C:0.37WA CSA 124
    rs729624851,2
    		C,--123001022(+) CCCCCA/GCTCAG 2 -- ds50012Minor allele frequency- G:0.15WA 120
    rs1452604431,2
    		--123001047(+) CTCTGC/TGGCTC 2 -- ds50010--------
    rs1379200801,2
    		--123001102(+) AGGGCC/TAGGCC 2 -- ds50010--------
    rs1424572221,2
    		--123001226(+) TTTTGC/TAAGAG 2 -- ut310--------
    rs1922610021,2
    		--123001247(+) AAGAGG/TGCACA 2 -- ut310--------
    rs803122301,2
    		C,F,--123001346(+) GAAGCC/TATGAC 2 -- ut311Minor allele frequency- T:0.05WA 118
    rs133220801,2
    		C,F,A,H,--123001379(+) TCAGCA/GCACAC 2 -- ut3113Minor allele frequency- G:0.07NS EA NA WA 1490
    rs761354301,2
    		F,--123001463(+) GAACAA/GCAGCT 2 -- ut311Minor allele frequency- G:0.02WA 118

    HapMap Linkage Disequilibrium report for ADCY5 (123001143 - 123168605 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 2 variations for ADCY5
         1 CNV: 68438
         1 Indel: 98427
    Human Gene Mutation Database (HGMD): ADCY5

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    Disorders / Diseases
    for ADCY5 gene

    (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.)
    About This Section
    ADCY5 for disorders           About GeneDecksing

    OMIM gene information: 600293    OMIM disorders: --

    UniProtKB/Swiss-Prot: ADCY5_HUMAN, O95622
  • Defects in ADCY5 are the cause of 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

    13 diseases for ADCY5:    About MalaCards
    precocious puberty    thyroid adenoma    chondrodysplasia    adenoma
    thyroiditis    major depressive disorder    neuronitis    cholera
    breast cancer    immunodeficiency    pancreatitis    leukemia
    colorectal cancer

    1 disease from the University of Copenhagen DISEASES database for ADCY5:
    Cholera
    Genetic Association Database (GAD): ADCY5
    Human Genome Epidemiology (HuGE) Navigator: ADCY5 (13 documents)

    Export disorders for ADCY5 gene to outside databases

    Publications
    for ADCY5 gene

    (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)
    About This Section

    PubMed articles for ADCY5 gene, integrated from 9 sources (see all 60):
    (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. (1999)
    2. The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)1, 2 Muzny D.M....Gibbs R.A. (2006)
    3. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    4. 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. (2002)
    5. Stratifying type 2 diabetes cases by BMI identifies ge netic risk variants in LAMA1 and enrichment for risk variants in lean compared t o obese cases. (PubMed id 22693455)1 Perry J.R....Cauchi S. (2012)
    6. Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5. (PubMed id 22782511)2 Chen Y.Z....Raskind W.H. (2012)
    7. Methods for quantification of in vivo changes in prote in ubiquitination following proteasome and deubiquitinase inhibition. (PubMed id 22505724)1 Udeshi N.D....Carr S.A. (2012)
    8. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resi stance. (PubMed id 22581228)1 Manning A.K....Langenberg C. (2012)
    9. Effects of 16 genetic variants on fasting glucose and type 2 diabetes in South Asians: ADCY5 and GLIS3 variants may predispose to ty pe 2 diabetes. (PubMed id 21949744)1 Rees S.D....Kelly M.A. (2011)
    10. Variants near CCNL1/LEKR1 and in ADCY5 and fetal grow th characteristics in different trimesters. (PubMed id 21307140)1 Mook-Kanamori D.O....Jaddoe V.W. (2011)

    External Searches for ADCY5 gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing ADCY5 gene

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

    Other Databases showing ADCY5 gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ADCY5 gene

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

    Intellectual Property
    for ADCY5 gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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