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ADCY6 Gene

protein-coding   GIFtS: 73
GCID: GC12M049159

Adenylate Cyclase 6

  See ADCY6-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 61 2     EC 4.6.1.13 8
Adenylate Cyclase Type VI2 3     AC62
Adenylyl Cyclase 62 3     Adenylate Cyclase Type 62
Ca(2+)-Inhibitable Adenylyl Cyclase2 3     KIAA04223
ATP Pyrophosphate-Lyase 62 3     

External Ids:    HGNC: 2371   Entrez Gene: 1122   Ensembl: ENSG000001742337   OMIM: 6002945   UniProtKB: O433063   

Export aliases for ADCY6 gene to outside databases

Previous GC identifers: GC12P061214 GC12M049170 GC12M048876 GC12M047446 GC12M046193


(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 ADCY6 Gene:
This gene encodes adenylate cyclase 6, which is a membrane-associated enzyme and catalyzes the formation of the
secondary messenger cyclic adenosine monophosphate (cAMP). The expression of this gene is found in normal thyroid
and brain tissues, as well as some tumors; and its expression is significantly higher in one hyperfunctioning
thyroid tumor than in normal thyroid tissue. Alternative splicing generates 2 transcript variants. (provided by
RefSeq, Jul 2008)

GeneCards Summary for ADCY6 Gene:
ADCY6 (adenylate cyclase 6) is a protein-coding gene. Diseases associated with ADCY6 include hypomyelination neuropathy - arthrogryposis, and thyroid adenoma. GO annotations related to this gene include adenylate cyclase activity and protein kinase binding. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot: ADCY6_HUMAN, O43306
Function: Membrane-bound, calcium-inhibitable adenylyl cyclase (By similarity)

summary for ADCY6 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 ADCY6 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_000012.11  NT_029419.13  NC_018923.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADCY6 gene promoter:
         MZF-1   Sp1   HNF-1   Pax-2   Pax-2a   HNF-1A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADCY6 promoter sequence
   Search Chromatin IP Primers for ADCY6

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADCY6


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

Entrez Gene cytogenetic band: 12q12-q13   Ensembl cytogenetic band:  12q13.12   HGNC cytogenetic band: 12q12-q13

ADCY6 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADCY6 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M049159:  view genomic region     (about GC identifiers)

Start:
49,159,975 bp from pter      End:
49,182,820 bp from pter
Size:
22,846 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., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: ADCY6_HUMAN, O43306 (See protein sequence)
Recommended Name: Adenylate cyclase type 6  
Size: 1168 amino acids; 130615 Da
Cofactor: Binds 2 magnesium ions per subunit (By similarity)
Subunit: Part of a complex containing AKAP5, ADCY5, PDE4C and PKD2 (By similarity). Interacts with RAF1
Sequence caution: Sequence=BAA24852.2; Type=Erroneous initiation;
Secondary accessions: Q9NR75 Q9UDB0
Alternative splicing: 2 isoforms:  O43306-1   O43306-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADCY6: NX_O43306

Explore proteomics data for ADCY6 at MOPED

Post-translational modifications: 

  • Phosphorylated by RAF11
  • Ubiquitination2 at Lys129
  • Glycosylation2 at Asn793
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ADCY6 (O43306) (see all 35)
     AGRIHIT  EKIKTIG  FHKIYIQ  IETFLIL 


    See ADCY6 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_056085.1  NP_066193.1  

    ENSEMBL proteins: 
     ENSP00000446730   ENSP00000311405   ENSP00000447702   ENSP00000350536  
    Reactome Protein details: O43306

    ADCY6 Human Recombinant Protein Products:

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    OriGene Custom Protein Services for ADCY6
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    Novus Biologicals ADCY6 Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for ADCY6

     
    Search eBioscience for Proteins for ADCY6 

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    ADCY6 Assay Products:

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    Cloud-Clone Corp. ELISAs for ADCY6
    Cloud-Clone Corp. CLIAs for ADCY6
    Search eBioscience for ELISAs for ADCY6 


    (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: AC6
    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 O43306

    ProtoNet protein and cluster: O43306

    1 Blocks protein domain: IPB009398 Adenylate cyclase-like

    UniProtKB/Swiss-Prot: ADCY6_HUMAN, O43306
    Similarity: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family
    Similarity: Contains 2 guanylate cyclase domains


    Find genes that share domains with ADCY6           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, 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: ADCY6_HUMAN, O43306
    Function: Membrane-bound, calcium-inhibitable adenylyl cyclase (By similarity)
    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 ADCY6:
    adenylyl cyclase,type VI,ubiquitous

         Enzyme Number (IUBMB): EC 4.6.1.11 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004016adenylate cyclase activity IDA18403039
    GO:0005515protein binding IPI17081159
    GO:0005524ATP binding IEA--
    GO:0016849phosphorus-oxygen lyase activity ----
    GO:0019901protein kinase binding ISS--
         
    Find genes that share ontologies with ADCY6           About GenesLikeMe


    Phenotypes:
         2 GenomeRNAi human phenotypes for ADCY6:
     G0/1 arrest  Increased G1 DNA content 

         5 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Adcy6):
     behavior/neurological  cardiovascular system  homeostasis/metabolism  muscle  renal/urinary system 

    Find genes that share phenotypes with ADCY6           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for ADCY6: Adcy6tm2Yich Adcy6tm1Hkh

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ADCY6
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ADCY6

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ADCY6
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ADCY6

    miRNA
    Products:
        
    miRTarBase miRNAs that target ADCY6:
    hsa-mir-96-5p (MIRT001991), hsa-mir-182-5p (MIRT001992), hsa-mir-124-3p (MIRT022147), hsa-mir-335-5p (MIRT016723)

    Block miRNA regulation of human, mouse, rat ADCY6 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ADCY6 (see all 69):
    hsa-miR-140-5p hsa-miR-323-3p hsa-miR-4254 hsa-miR-631 hsa-miR-1224-3p hsa-miR-128 hsa-miR-3138 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidADCY6 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ADCY6
    Predesigned siRNA for gene silencing in human, mouse, rat ADCY6

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for ADCY6 (see all 13)
    OriGene ORF clones in mouse, rat for ADCY6
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ADCY6 (NM_020983)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ADCY6
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ADCY6

    Cell Line
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    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ADCY6


    (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
    ADCY6_HUMAN, O43306: Membrane; Multi-pass membrane protein. Cell projection, cilium (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol1
    endoplasmic reticulum1
    peroxisome1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005886plasma membrane TAS--
    GO:0005929cilium IEA--
    GO:0016020membrane ISS--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with ADCY6           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 ADCY6 About   (see all 57)  
    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 ADCY6           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ADCY6 (see all 23)
        MAPK Signaling
    PKA Signaling
    Molecular Mechanisms of Cancer
    Relaxin Pathway
    G-AlphaI Signaling

    Selected GeneGo (Thomson Reuters) Pathways for ADCY6 (see all 13)
        Development A2A receptor signaling
    Development Beta-adrenergic receptors signaling via cAMP
    Signal transduction cAMP signaling
    Signal transduction PKA signaling
    Development Endothelin-1/EDNRA signaling

    Selected BioSystems Pathways for ADCY6 (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 ADCY6 (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 ADCY6
        Beta-agonist/Beta-blocker Pathway, Pharmacodynamics
    Proton Pump Inhibitor Pathway, Pharmacodynamics

    Selected Kegg Pathways  (Kegg details for ADCY6) (see all 31):
        Purine metabolism
    Rap1 signaling pathway
    Chemokine signaling pathway
    Oocyte meiosis
    Adrenergic signaling in cardiomyocytes

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADCY6
    Interactions:

        Search GeneGlobe Interaction Network for ADCY6

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

    Selected Interacting proteins for ADCY6 (O433062, 3 ENSP000003114054) via UniProtKB, MINT, STRING, and/or I2D (see all 311)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ATXN1P542532, 3, ENSP000002447694MINT-2856791 I2D: score=3 STRING: ENSP00000244769
    GNASQ5JWF23, ENSP000003601414I2D: score=3 STRING: ENSP00000360141
    CHRNA7P365443, ENSP000003037274I2D: score=2 STRING: ENSP00000303727
    RAF1P040493, ENSP000002518494I2D: score=2 STRING: ENSP00000251849
    ADCY1ENSP000002973234STRING: ENSP00000297323
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 21):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006112energy reserve metabolic process TAS--
    GO:0006171cAMP biosynthetic process IDA18403039
    GO:0006833water transport TAS--
    GO:0007165signal transduction TAS--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--

    Find genes that share ontologies with ADCY6           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 Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Compounds for ADCY6 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 ADCY6 (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 Novoseek inferred chemical compound relationships for ADCY6 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 64.5 6 15683739 (2), 9841634 (1), 15225617 (1), 15885660 (1) (see all 5)
    dopamine 25.6 1 15683739 (1)



    Find genes that share compounds with ADCY6           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 ADCY6 gene (2 alternative transcripts): 
    NM_015270.3  NM_020983.2  

    Unigene Cluster for ADCY6:

    Adenylate cyclase 6
    Hs.525401  [show with all ESTs]
    Unigene Representative Sequence: NM_015270
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000547260(uc010slw.1) ENST00000550422(uc001rsi.4 uc001rsj.4)
    ENST00000307885(uc001rsh.4) ENST00000552099 ENST00000548351 ENST00000552090
    ENST00000551435 ENST00000548820 ENST00000357869
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate ADCY6 (see all 69):
    hsa-miR-140-5p hsa-miR-323-3p hsa-miR-4254 hsa-miR-631 hsa-miR-1224-3p hsa-miR-128 hsa-miR-3138 hsa-miR-138-2*
    SwitchGear 3'UTR luciferase reporter plasmidADCY6 3' UTR sequence
    Inhib. RNA
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ADCY6 (NM_020983)
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    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat ADCY6
    Primer
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    OriGene qPCR primer pairs and template standards for ADCY6
    OriGene qSTAR qPCR primer pairs in human, mouse for ADCY6
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ADCY6
      QuantiTect SYBR Green Assays in human, mouse, rat ADCY6
      QuantiFast Probe-based Assays in human, mouse, rat ADCY6

    Additional mRNA sequence: 

    AB007882.2 AF250226.1 AK294446.1 BX537664.1 U65474.1 

    11 DOTS entries:

    DT.99937161  DT.40108164  DT.91743387  DT.453565  DT.95333624  DT.100777803  DT.100730796  DT.100027161 
    DT.100777796  DT.102831861  DT.75111797 

    7 AceView cDNA sequences:

    BC064923 AB007882 BX537664 U65474 AF250226 NM_015270 NM_020983 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for ADCY6    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21
    SP1:                                                                                                                                    
    SP2:                                                                                      -                                             
    SP3:                                                                                                                                    


    ECgene alternative splicing isoforms for ADCY6

    (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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    ADCY6 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGATGAAAG
    ADCY6 Expression
    About this image


    ADCY6 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebral Cortex
     
     Kidney (Urinary System)
             Metanephros
     
     Neural Tube (Nervous System)
             Telencephalon
     
     Colon (Gastrointestinal Tract)
     
     Adipose (Muscoskeletal System)
    ADCY6 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADCY6 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.525401
        Custom PCR Arrays for ADCY6
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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 ADCY6 gene from 13 species (see representative species )    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chimpanzee
    (Pan troglodytes)
    Mammalia ADCY61 adenylate cyclase 6 99.64(n)
    99.55(a)
      451866  XM_509033.3  XP_509033.3 
    mouse
    (Mus musculus)
    Mammalia Adcy61 , 5 adenylate cyclase 61, 5 88.56(n)1
    94.6(a)1
      15 (54.59 cM)5
    115121  NM_007405.21  NP_031431.21 
     985899945 
    rat
    (Rattus norvegicus)
    Mammalia Adcy61 adenylate cyclase 6 87.85(n)
    93.74(a)
      25289  NM_001270785.1  NP_001257714.1 
    cow
    (Bos taurus)
    Mammalia ADCY61 adenylate cyclase 6 91.31(n)
    95.54(a)
      509936  NM_001143877.1  NP_001137349.1 
    dog
    (Canis familiaris)
    Mammalia ADCY61 adenylate cyclase 6 92.74(n)
    96.66(a)
      477625  NM_001195147.1  NP_001182076.1 
    platypus
    (Ornithorhynchus anatinus)
    Mammalia ADCY66
    adenylate cyclase 6
    84(a)
    1 ↔ 1
    Contig76871(24-1810)
    chicken
    (Gallus gallus)
    Aves ADCY66
    adenylate cyclase 6
    93(a)
    1 ↔ 1
    AADN03023257.1(21-1344)
    lizard
    (Anolis carolinensis)
    Reptilia ADCY66
    adenylate cyclase 6
    77(a)
    1 ↔ 1
    2(94460752-94526698)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia adcy61 adenylate cyclase 6 70.32(n)
    76.19(a)
      100493933  XM_002935120.2  XP_002935166.2 
    zebrafish
    (Danio rerio)
    Actinopterygii adcy6b1 adenylate cyclase 6b 70.34(n)
    73.6(a)
      560807  XM_002666490.2  XP_002666536.2 
    sea squirt
    (Ciona savignyi)
    Ascidiacea --
    Uncharacterized protein
    48(a)
    1 → many
    reftig_26(548419-565910)
    fruit fly
    (Drosophila melanogaster)
    Insecta rut3 molting cycle (sensu Insecta) adenylate
    cyclase
    49(a)
    (best of 5)
      12F4   --
    worm
    (Caenorhabditis elegans)
    Secernentea acy-43   -- 49(a)
    (best of 2)
      V(5627531-5629064)   --
            Species with no ortholog for ADCY6

    ENSEMBL Gene Tree for ADCY6 (if available)
    TreeFam Gene Tree for ADCY6 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADCY6 gene
    ADCY52  ADCY22  GUCY2D2  GUCY2C2  NPR12  ADCY82  GUCY2F2  GUCY1A22  
    ADCY72  ADCY92  GUCY1B32  ADCY12  GUCY1A32  ADCY42  NPR22  ADCY32  
    7 SIMAP similar genes for ADCY6 using alignment to 2 protein entries:     ADCY6_HUMAN (see all proteins):
    ADCY5    ADCY1    ADCY3    ADCY2    ADCY4    ADCY8
    ADCY7

    Find genes that share paralogs with ADCY6           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 ADCY6 (see all 443)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 12 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617388491,2
    C,F--46213184(+) AGCTAG/CCAGCA 1 -- us2k13Minor allele frequency- C:0.46NS WA 196
    rs1469761101,2
    --46213209(+) CACTCA/GGGGAC 1 -- us2k10--------
    rs1384051951,2
    --46213277(+) AGATGC/GGCAGC 1 -- us2k10--------
    rs357841841,2
    C--48996935(+) CCTAAT/-TTTTT 2 -- int11Minor allele frequency- -:0.50NA 2
    rs1906936821,2
    C--49160383(+) TTTCCC/TCTCCT 2 -- ut310--------
    rs1831529561,2
    --49160403(+) ACTAAC/TGAAGT 2 -- ut310--------
    rs1874443401,2
    --49160441(+) GAAGAC/TGCCCA 2 -- ut310--------
    rs1405592051,2
    C--49160514(+) GGGCA-/GGCAGTGC 2 -- cds10--------
    rs1926765191,2
    --49160546(+) CAAACC/GTAGCA 2 -- ut310--------
    rs1462317501,2
    --49160594(+) TCCAAA/GACAAA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ADCY6 (49159975 - 49182820 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ADCY6:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv826363CNV Gain20364138

    Human Gene Mutation Database (HGMD): ADCY6
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADCY6
    DNA2.0 Custom Variant and Variant Library Synthesis for ADCY6

    (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: 600294    OMIM disorders: --

    4 diseases for ADCY6:    
    About MalaCards
    hypomyelination neuropathy - arthrogryposis    thyroid adenoma    precocious puberty    adenoma

    1 disease from the University of Copenhagen DISEASES database for ADCY6:
    Cholera

    Find genes that share disorders with ADCY6           About GenesLikeMe

    Genetic Association Database (GAD): ADCY6
    Human Genome Epidemiology (HuGE) Navigator: ADCY6 (3 documents)

    Export disorders for ADCY6 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 ADCY6 gene, integrated from 10 sources (see all 58):
    (articles sorted by number of sources associating them with ADCY6)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    2. Polymorphism of the type 6 adenylyl cyclase gene and cardiac hypertrophy. (PubMed id 14871025)1, 4 Ikoma E....Ishikawa Y. (J. Cardiovasc. Pharmacol. 2003)
    3. Construction of expression-ready cDNA clones for KIAA genes: manual curation of 330 KIAA cDNA clones. (PubMed id 12168954)1, 2 Nakajima D.... Nagase T. (DNA Res. 2002)
    4. Cloning and expression of human adenylyl cyclase type VI in normal thyroid tissues. (PubMed id 10978539)1, 2 Wicker R.... Suarez H.G. (Biochim. Biophys. Acta 2000)
    5. Prediction of the coding sequences of unidentified human genes. VIII. 78 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 9455477)1, 2 Ishikawa K.... Ohara O. (DNA Res. 1997)
    6. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    7. Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (amp 2011)
    8. Human bronchial smooth muscle cells express adenylyl cyclase isoforms 2, 4, and 6 in distinct membrane microdomains. (PubMed id 21228062)1 Bogard A.S....Ostrom R.S. (J. Pharmacol. Exp. Ther. 2011)
    9. PPARgamma-dependent regulation of adenylate cyclase 6 amplifies the stimulatory effect of cAMP on renin gene expression. (PubMed id 20861226)1 Desch M....Todorov V.T. (Mol. Endocrinol. 2010)
    10. Increased blood pressure and hyperdynamic cardiovascular responses in carriers of a common hyperfunctional variant of adenylyl cyclase 6. (PubMed id 20732959)1 Hodges G.J....Feldman R.D. (J. Pharmacol. Exp. Ther. 2010)

    (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: 112 HGNC: 237 AceView: ADCY6 Ensembl:ENSG00000174233 euGenes: HUgn112
    ECgene: ADCY6 Kegg: 112 H-InvDB: ADCY6

    (According to HUGE)
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    HUGE: KIAA0422

    (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 ADCY6 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ADCY6 Genetics and Cytogenetics in Oncology and Haematology

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

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    Patent Information for ADCY6 gene:
    Search GeneIP for patents involving ADCY6

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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