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ADCY10 Gene

protein-coding   GIFtS: 57
GCID: GC01M167778

Adenylate Cyclase 10 (Soluble)

  See 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 10 (Soluble)1 2     Soluble Adenylyl Cyclase1
SAC2 3 5     3',5'-Cyclic AMP Synthetase2
Germ Cell Soluble Adenylyl Cyclase2 3     SACI2
AH-Related Protein2 3     Sacy2
hsAC2 3     Adenylate Cyclase Type 102
EC 4.6.1.13 8     ATP Pyrophosphate-Lyase2
HCA22 5     Testicular Soluble Adenylyl Cyclase (SAC)2
21     Adenylate Cyclase Homolog3
Hypercalciuria1     sAC3
absorptive1     Testicular Soluble Adenylyl Cyclase3

External Ids:    HGNC: 212851   Entrez Gene: 558112   Ensembl: ENSG000001431997   OMIM: 6052055   UniProtKB: Q96PN63   

Export aliases for ADCY10 gene to outside databases

Previous GC identifers: GC01M166046 GC01M139024


(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 ADCY10 Gene:
The protein encoded by this gene belongs to a distinct class of mammalian adenylyl cyclase that is soluble and
insensitive to G protein or forskolin regulation. It is thought to function as a general bicarbonate sensor
throughout the body. It may also play an important role in the generation of cAMP in spermatozoa, implying
possible roles in sperm maturation through the epididymis, capacitation, hypermotility, and/or the acrosome
reaction. Genetic variations in this gene are associated with absorptive hypercalciuria type 2. Alternatively
spliced transcript variants encoding different isoforms have been found for this gene. (provided by RefSeq, Nov
2009)

GeneCards Summary for ADCY10 Gene:
ADCY10 (adenylate cyclase 10 (soluble)) is a protein-coding gene. Diseases associated with ADCY10 include hypercalciuria, absorptive, and morphine dependence. GO annotations related to this gene include ATPase binding and magnesium ion binding.

UniProtKB/Swiss-Prot: ADCYA_HUMAN, Q96PN6
Function: Soluble adenylyl cyclase that has a critical role in mammalian spermatogenesis. Produces the cAMP which
mediates in part the cAMP-responsive nuclear factors indispensable for maturation of sperm in the epididymis.
Induces capacitation, the maturational process that sperm undergo prior to fertilization. May be the bicarbonate
sensor. Involved in ciliary beat regulation

Gene Wiki entry for ADCY10 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:
NC_000001.11  NT_004487.20  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ADCY10 gene promoter:
         Sox5   NRSF form 1   Nkx2-5   NRSF form 2   CREB   AREB6   deltaCREB   Sox9   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidADCY10 promoter sequence
   Search Chromatin IP Primers for ADCY10

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ADCY10


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

Entrez Gene cytogenetic band: 1q24   Ensembl cytogenetic band:  1q24.2   HGNC cytogenetic band: 1q24

ADCY10 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ADCY10 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01M167778:  view genomic region     (about GC identifiers)

Start:
167,778,625 bp from pter      End:
167,883,453 bp from pter
Size:
104,829 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, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., 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: ADCYA_HUMAN, Q96PN6 (See protein sequence)
Recommended Name: Adenylate cyclase type 10  
Size: 1610 amino acids; 187149 Da
Cofactor: Binds 2 magnesium ions per subunit (By similarity)
Secondary accessions: B4DZF0 F5GWS5 O95558 Q5R329 Q5R330 Q8WXV4 Q9NNX0
Alternative splicing: 4 isoforms:  Q96PN6-1   Q96PN6-2   Q96PN6-3   Q96PN6-4   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for ADCY10: NX_Q96PN6

Explore proteomics data for ADCY10 at MOPED

Post-translational modifications: 

  • Cleavage may occur to generate the active 48 kDa form1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ADCY10 (Q96PN6) (see all 12)
     EKVMFGMA  SRYMEGQVL  YFFKELPKK  LVAQNTTGPVF 


    See ADCY10 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001161221.1  NP_060887.2  

    ENSEMBL proteins: 
     ENSP00000441992   ENSP00000356825   ENSP00000476402   ENSP00000356822   ENSP00000475192  

    ADCY10 Human Recombinant Protein Products:

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    (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

    4 InterPro protein domains:
     IPR011990 TPR-like_helical
     IPR016577 Adenylate_cylcase_typ10
     IPR001054 A/G_cyclase
     IPR027417 P-loop_NTPase

    Graphical View of Domain Structure for InterPro Entry Q96PN6

    ProtoNet protein and cluster: Q96PN6

    UniProtKB/Swiss-Prot: ADCYA_HUMAN, Q96PN6
    Similarity: Belongs to the adenylyl cyclase class-4/guanylyl cyclase family
    Similarity: Contains 2 guanylate cyclase domains


    ADCY10 for domains           About GeneDecksing


    (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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ADCYA_HUMAN, Q96PN6
    Function: Soluble adenylyl cyclase that has a critical role in mammalian spermatogenesis. Produces the cAMP which
    mediates in part the cAMP-responsive nuclear factors indispensable for maturation of sperm in the epididymis.
    Induces capacitation, the maturational process that sperm undergo prior to fertilization. May be the bicarbonate
    sensor. Involved in ciliary beat regulation
    Catalytic activity: ATP = 3',5'-cyclic AMP + diphosphate
    Enzyme regulation: Activated by manganese or magnesium ions. In the presence of magnesium ions, the enzyme is
    activated by bicarbonate while in the presence of manganese ions, the enzyme is inhibited by bicarbonate. In the
    absence of magnesium and bicarbonate, the enzyme is weakly activated by calcium
    Biophysicochemical properties: Kinetic parameters: KM=0.8 mM for ATP-Mn(2+); KM=2.41 mM for Mg(2+);

         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:0000287magnesium ion binding IEA--
    GO:0004016adenylate cyclase activity NAS9874775
    GO:0005524ATP binding IEA--
    GO:0016849phosphorus-oxygen lyase activity ----
    GO:0030145manganese ion binding IEA--
         
    ADCY10 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ADCY10:
     Increased S DNA content 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Adcy10):
     cardiovascular system  homeostasis/metabolism  reproductive system 

    ADCY10 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Adcy10tm1Lex for ADCY10

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    (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
    ADCYA_HUMAN, Q96PN6: Cell membrane; Peripheral membrane protein; Cytoplasmic side. Cytoplasm, cytoskeleton.
    Cytoplasm, perinuclear region. Note=Distributed to subcellular compartments containing cAMP targets. Found as a
    plasma membrane-associated protein, protein concentrated in the perinuclear region and protein colocalized with
    actin or tubulin
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol5
    plasma membrane5
    endoplasmic reticulum1
    extracellular1
    nucleus1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm TAS9874775
    GO:0005829cytosol NAS9874775
    GO:0005856cytoskeleton IEA--
    GO:0005886plasma membrane IEA--
    GO:0016020membrane ----

    ADCY10 for ontologies           About GeneDecksing


    (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 ADCY10 About    
    See pathways by source

    SuperPathContained pathways About
    1Circadian entrainment
    Circadian entrainment0.40
    2Purine metabolism (KEGG)
    Purine metabolism0.38
    3Endothelin
    Endothelin

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    5 Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ADCY10
        Cellular Effects of Sildenafil
    Sertoli-Sertoli Cell Junction Dynamics
    cAMP Pathway
    Sperm Motility
    Activation of cAMP-Dependent PKA

    1 BioSystems Pathway for ADCY10
        Endothelin


    2 Kegg Pathways  (Kegg details for ADCY10):
        Purine metabolism
    Circadian entrainment


    ADCY10 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ADCY10
    Interactions:

        Search GeneGlobe Interaction Network for ADCY10

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

    Selected Interacting proteins for ADCY10 (Q96PN63 ENSP000003568254) via UniProtKB, MINT, STRING, and/or I2D (see all 84)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PTGIRP431193, ENSP000002912944I2D: score=1 STRING: ENSP00000291294
    SSTR5P353463, ENSP000002938974I2D: score=1 STRING: ENSP00000293897
    RECQL5O947623I2D: score=1 
    ITPAENSP000003694564STRING: ENSP00000369456
    PDE11AENSP000002860634STRING: ENSP00000286063
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006171cAMP biosynthetic process NAS9874775
    GO:0007283spermatogenesis IEA--
    GO:0009190cyclic nucleotide biosynthetic process ----
    GO:0035556intracellular signal transduction IEA--
    GO:0043065positive regulation of apoptotic process IEA--

    ADCY10 for ontologies           About GeneDecksing



    (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 

    Browse Tocris compounds for ADCY10 (ADCYA)

    6 HMDB Compounds for ADCY10    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--
    Hydrogen carbonateBicarbonate (see all 19)71-52-3--
    MagnesiumMagnesium (see all 2)7439-95-4--
    Manganesemanganese 7439-96-5--

    Selected Novoseek inferred chemical compound relationships for ADCY10 gene (see all 128)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    adenylate 98.7 4930 1696150 (12), 8836153 (10), 1688553 (10), 1901530 (10) (see all 99)
    forskolin 93.4 544 1696150 (3), 1688553 (3), 2153911 (2), 2129432 (2) (see all 99)
    cyclic amp 91.1 343 8312859 (4), 2156988 (4), 16627466 (3), 9850009 (3) (see all 99)
    sq 22536 82.1 33 11438697 (1), 12606604 (1), 12972400 (1), 16160094 (1) (see all 28)
    ibmx 81.2 45 1688553 (3), 7540897 (2), 1688464 (1), 8390534 (1) (see all 30)
    isoproterenol 80.7 121 8392940 (4), 2154129 (2), 8381057 (2), 2175867 (2) (see all 92)
    2',5'-dideoxyadenosine 80.6 31 15684499 (4), 2167226 (1), 2174073 (1), 1321639 (1) (see all 23)
    tmac 76.4 8 17591988 (2), 19061075 (2), 16309816 (1), 16934836 (1)
    dbc-amp 74.3 19 2171930 (1), 1980742 (1), 7891085 (1), 8925408 (1) (see all 16)
    pge1 74.3 59 8919301 (3), 2153911 (2), 2129393 (2), 1688464 (1) (see all 43)



    ADCY10 for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ADCY10 gene (2 alternative transcripts): 
    NM_001167749.1  NM_018417.4  

    Unigene Cluster for ADCY10:

    Adenylate cyclase 10 (soluble)
    Hs.320892  [show with all ESTs]
    Unigene Representative Sequence: NM_018417
    5 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000545172(uc009wvj.3 uc010plj.2) ENST00000367851(uc001ger.3 uc009wvl.3 uc009wvm.2)
    ENST00000485964 ENST00000367848(uc009wvk.3) ENST00000476818
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    Additional mRNA sequence: 

    AF176813.2 AF271058.1 AF299350.1 AF331033.1 AK302884.1 AK310395.1 AK310531.1 AL035122.1 
    BC117366.1 BC117372.1 

    3 DOTS entries:

    DT.91666152  DT.75172523  DT.86842885 

    11 AceView cDNA sequences:

    AL035122 AW592474 NM_018417 AF271058 AF299350 AF176813 AF331033 AI243150 
    BU561368 BX098895 AA707634 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ADCY10 (see all 8)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15a · 15b · 15c ^ 16 ^ 17 ^ 18 ^
    SP1:                          -           -                                                                                   -                                 
    SP2:                          -           -                       -                                                           -                                 
    SP3:                                                                                                                                                            
    SP4:                          -           -                                                                                                                     
    SP5:                                      -                                                                                                                     

    ExUns: 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32 ^ 33 ^ 34 ^ 35 ^ 36a · 36b
    SP1:                                      -                                               -                           
    SP2:                                      -                                               -                           
    SP3:                          -     -                                                                                 
    SP4:                                                                                                                  
    SP5:                                                                                                                  


    ECgene alternative splicing isoforms for ADCY10

    (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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    ADCY10 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TCAAAGAAAA
    ADCY10 Expression
    About this image

    ADCY10 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ADCY10 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.320892

    UniProtKB/Swiss-Prot: ADCYA_HUMAN, Q96PN6
    Tissue specificity: Weakly expressed in multiple tissues. Expressed in brain, heart, kidney, liver, lung,
    pancreas, peripheral blood leukocytes, placenta, skeletal muscle, stomach, thymus, airway epithelial cells,
    duodenum, jejunum and ileum. Very low level of expression in bone

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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 ADCY10 gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Adcy101 , 5 adenylate cyclase 101, 5 81.77(n)1
    77.67(a)1
      1 (72.83 cM)5
    2716391  NM_173029.31  NP_766617.21 
     1654851835 
    chicken
    (Gallus gallus)
    Aves LOC1017516651 uncharacterized LOC101751665 63.25(n)
    47.44(a)
      101751665  XM_004949684.1  XP_004949741.1 
    lizard
    (Anolis carolinensis)
    Reptilia ADCY106
    adenylate cyclase 10 (soluble)
    41(a)
    1 ↔ 1
    GL343405.1(232864-326132)
    mosquito
    (Anopheles gambiae)
    Insecta AgaP_AGAP0086831 AgaP_AGAP008683 47.79(n)
    33.58(a)
      4578109  XM_001237597.1  XP_001237598.1 


    ENSEMBL Gene Tree for ADCY10 (if available)
    TreeFam Gene Tree for ADCY10 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ADCY10 gene

    ADCY10 for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for ADCY10
    PGOHUM00000243618


    (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 ADCY10 (see all 2419)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs113067641,2
    C,F--139058093(+) ACTGCA/-AAAAA 2 -- int1 trp32Minor allele frequency- -:0.50NA 4
    rs776525801,2
    C--139106129(+) CAGGTG/-GCAAA 2 -- int12Minor allele frequency- -:0.00NA CSA 4
    rs1122910221,2
    C--139120618(+) AGAAATG/-TGTGT 2 -- int11Minor allele frequency- -:0.50CSA 2
    rs1119142061,2
    C,F--167780688(+) GCATGG/TTCGTG 2 -- int11Minor allele frequency- T:0.50CSA 2
    rs1114203831,2
    C--167781427(+) AGGCAGTCATTGTTGC
    ACCTCTCCCC
    /-
    GTCAT
    2 -- int11Minor allele frequency- -:0.50CSA 2
    rs3683039291,2
    C--167781432(+) TCATT-/GCAAGCCC
    CTCCCACTCCA
    GTTGC
    2 -- int10--------
    rs1445455021,2
    C--167781434(+) CATTG-/TTGCACCTC
    TCCCCGTCATTG
    CAAGC
    2 -- int10--------
    rs711009031,2
    C--167781638(-) CCCTA-/AGGCAT 2 -- int11Minor allele frequency- A:0.00NA 2
    rs357285101,2
    C--167784071(+) ACAAT-/AAAAAA 2 -- int10--------
    rs114547861,2
    C--167788485(+) TTTTT-/T/TT  
            
    AGATG
    2 -- int1 trp31NA 2

    HapMap Linkage Disequilibrium report for ADCY10 (167778625 - 167883453 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 6 variations for ADCY10:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2719217CNV Deletion23290073
    esv273284CNV Insertion20981092
    esv267723CNV Insertion20981092
    nsv527119CNV Loss19592680
    esv32660CNV Loss17666407
    nsv464239CNV Loss19166990

    Human Gene Mutation Database (HGMD): ADCY10
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ADCY10
    DNA2.0 Custom Variant and Variant Library Synthesis for ADCY10

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605205   
    OMIM disorders: 143870  
    UniProtKB/Swiss-Prot: ADCYA_HUMAN, Q96PN6
  • Hypercalciuria absorptive 2 (HCA2) [MIM:143870]: A common type of hypercalciuria, a condition
    characterized by excessive urinary calcium excretion. Absorptive hypercalciuria is due to gastrointestinal
    hyperabsorption of calcium and is a frequent cause of calcium oxalate nephrolithiasis. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for ADCY10 (see all 120):    
    About MalaCards
    hypercalciuria, absorptive    morphine dependence    cholera    neonatal hypothyroidism
    albright's hereditary osteodystrophy    adrenal carcinoma    pseudohypoparathyroidism    fibrous dysplasia
    humoral hypercalcemia of malignancy    brain ischemia    multinodular goiter    goiter
    opiate dependence    adenohypophysitis    hypertensive heart disease    adrenal adenoma
    glucagonoma    pertussis    mitral valve prolapse    hypothyroidism

    1 disease from the University of Copenhagen DISEASES database for ADCY10:
    Cholera

    ADCY10 for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ADCY10 gene (see all 91)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    platelet adenylate cyclase activity 76.9 1 2175792 (1)
    cholera 76.7 68 1673334 (5), 2119204 (3), 8554518 (2), 1682005 (1) (see all 57)
    pseudohypoparathyroidism 61.1 5 19381884 (1), 7702269 (1), 8397330 (1), 10518972 (1) (see all 5)
    pseudohypoparathyroidism, type ii 57.2 1 10518973 (1)
    osteosarcoma 41.7 9 2405851 (1), 2161222 (1), 1651438 (1), 8825419 (1) (see all 9)
    glioma 37.9 19 1673334 (2), 7972932 (2), 2119204 (2), 2175190 (1) (see all 14)
    graves disease 35.7 7 2170263 (1), 1312488 (1), 1673689 (1), 8094393 (1) (see all 7)
    toxic goiter 28.3 1 8626855 (1)
    insulinoma 26.7 1 7813816 (1)
    anthrax 24.2 1 11867750 (1)

    Genetic Association Database (GAD): ADCY10
    Human Genome Epidemiology (HuGE) Navigator: ADCY10 (4 documents)

    Export disorders for ADCY10 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 ADCY10 gene, integrated from 10 sources (see all 1485):
    (articles sorted by number of sources associating them with ADCY10)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Kinetic properties of 'soluble' adenylyl cyclase. Synergism between calcium and bicarbonate. (PubMed id 12609998)1, 2, 9 Litvin T.N.... Levin L.R. (J. Biol. Chem. 2003)
    2. Soluble adenylyl cyclase is localized to cilia and contributes to ciliary beat frequency regulation via production of cAMP. (PubMed id 17591988)1, 2, 9 Schmid A.... Salathe M. (J. Gen. Physiol. 2007)
    3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    4. Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation. (PubMed id 19064610)1, 4 Cheung C.L....Kung A.W. (Hum. Mol. Genet. 2009)
    5. Association of adenylate cyclase 10 (ADCY10) polymorphisms and bone mineral density in healthy adults. (PubMed id 19093065)1, 4 Ichikawa S....Econs M.J. (Calcif. Tissue Int. 2009)
    6. Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study. (PubMed id 19536175)1, 4 Ehret G.B....Chakravarti A. (Eur. J. Hum. Genet. 2009)
    7. Compartmentalization of bicarbonate-sensitive adenylyl cyclase in distinct signaling microdomains. (PubMed id 12475901)1, 2 Zippin J.H.... Buck J. (FASEB J. 2003)
    8. Identification and characterization of a gene with base substitutions associated with the absorptive hypercalciuria phenotype and low spinal bone density. (PubMed id 11932268)1, 2 Reed B.Y....Pak C.Y.C. (J. Clin. Endocrinol. Metab. 2002)
    9. Identification and functional analysis of splice variants of the germ cell soluble adenylyl cyclase. (PubMed id 11423534)1, 2 Jaiswal B.S. and Conti M. (J. Biol. Chem. 2001)
    10. Soluble adenylyl cyclase defines a nuclear cAMP microdomain in keratinocyte hyperproliferative skin diseases. (PubMed id 20130594)1, 9 Zippin J.H....Magro C.M. (J. Invest. Dermatol. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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: 55811 HGNC: 21285 AceView: SAC Ensembl:ENSG00000143199 euGenes: HUgn55811
    ECgene: ADCY10 Kegg: 55811 H-InvDB: ADCY10

    (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 ADCY10 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 ADCY10 gene:
    Search GeneIP for patents involving ADCY10

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



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