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Aliases for ADCY9 Gene

Aliases for ADCY9 Gene

  • Adenylate Cyclase 9 2 3 5
  • Adenylate Cyclase Type IX 3 4
  • ATP Pyrophosphate-Lyase 9 3 4
  • Adenylyl Cyclase 9 3 4
  • EC 4.6.1.1 4 63
  • ACIX 3 4
  • AC9 3 4
  • Type IX ATP Pyrophosphate-Lyase 3
  • KIAA0520 4

External Ids for ADCY9 Gene

Previous GeneCards Identifiers for ADCY9 Gene

  • GC16M004044
  • GC16M004015
  • GC16M003952
  • GC16M004003

Summaries for ADCY9 Gene

Entrez Gene Summary for ADCY9 Gene

  • Adenylate cyclase is a membrane bound enzyme that catalyses the formation of cyclic AMP from ATP. It is regulated by a family of G protein-coupled receptors, protein kinases, and calcium. The type 9 adenylyl cyclase is a widely distributed adenylyl cyclase, and it is stimulated by beta-adrenergic receptor activation but is insensitive to forskolin, calcium, and somatostatin. [provided by RefSeq, Jul 2008]

GeneCards Summary for ADCY9 Gene

ADCY9 (Adenylate Cyclase 9) is a Protein Coding gene. Diseases associated with ADCY9 include rubinstein-taybi syndrome and restrictive cardiomyopathy. Among its related pathways are Signaling by GPCR and Metabolism. GO annotations related to this gene include phosphorus-oxygen lyase activity and adenylate cyclase activity. An important paralog of this gene is ADCY3.

UniProtKB/Swiss-Prot for ADCY9 Gene

  • Adenylyl cyclase that catalyzes the formation of the signaling molecule cAMP in response to activation of G protein-coupled receptors (PubMed:9628827, PubMed:12972952, PubMed:15879435, PubMed:10987815). Contributes to signaling cascades activated by CRH (corticotropin-releasing factor), corticosteroids and beta-adrenergic receptors (PubMed:9628827).

Tocris Summary for ADCY9 Gene

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

Gene Wiki entry for ADCY9 Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADCY9 Gene

Genomics for ADCY9 Gene

Regulatory Elements for ADCY9 Gene

Promoters for ADCY9 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ADCY9 on UCSC Golden Path with GeneCards custom track

Genomic Location for ADCY9 Gene

Chromosome:
16
Start:
3,953,387 bp from pter
End:
4,116,185 bp from pter
Size:
162,799 bases
Orientation:
Minus strand

Genomic View for ADCY9 Gene

Genes around ADCY9 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCY9 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCY9 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCY9 Gene

Proteins for ADCY9 Gene

  • Protein details for ADCY9 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60503-ADCY9_HUMAN
    Recommended name:
    Adenylate cyclase type 9
    Protein Accession:
    O60503
    Secondary Accessions:
    • A7E2V5
    • A7E2X2
    • D3DUD1
    • O60273
    • Q4ZHT9
    • Q4ZIR5
    • Q9BWT4
    • Q9UGP2

    Protein attributes for ADCY9 Gene

    Size:
    1353 amino acids
    Molecular mass:
    150701 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC24201.1; Type=Frameshift; Positions=1252; Evidence={ECO:0000305}; Sequence=BAA25446.3; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305};

neXtProt entry for ADCY9 Gene

Proteomics data for ADCY9 Gene at MOPED

Post-translational modifications for ADCY9 Gene

  • Ubiquitination at Lys 622 and Lys 1218
  • Glycosylation at Asn 206, Asn 955, and Asn 964
  • Modification sites at PhosphoSitePlus

Other Protein References for ADCY9 Gene

Antibody Products

Domains & Families for ADCY9 Gene

Gene Families for ADCY9 Gene

Protein Domains for ADCY9 Gene

Suggested Antigen Peptide Sequences for ADCY9 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60503

UniProtKB/Swiss-Prot:

ADCY9_HUMAN :
  • The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate-binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain.
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
Domain:
  • The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal guanylate cyclase domains have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two domains. Both contribute substrate-binding residues, but the catalytic metal ions are bound exclusively via the N-terminal guanylate cyclase domain.
  • Contains 2 guanylate cyclase domains.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with ADCY9: view

Function for ADCY9 Gene

Molecular function for ADCY9 Gene

GENATLAS Biochemistry:
adenylyl cyclase type IX,ubiquitously,with highest levels in skeletal muscle,heart and brain
UniProtKB/Swiss-Prot CatalyticActivity:
ATP = 3,5-cyclic AMP + diphosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Insensitive to calcium/calmodulin, forskolin and somatostatin. Stimulated by beta-adrenergic receptor activation (PubMed:9628827). Activity is down-regulated by calcium/calcineurin (PubMed:10987815).
UniProtKB/Swiss-Prot Function:
Adenylyl cyclase that catalyzes the formation of the signaling molecule cAMP in response to activation of G protein-coupled receptors (PubMed:9628827, PubMed:12972952, PubMed:15879435, PubMed:10987815). Contributes to signaling cascades activated by CRH (corticotropin-releasing factor), corticosteroids and beta-adrenergic receptors (PubMed:9628827).

Enzyme Numbers (IUBMB) for ADCY9 Gene

genes like me logo Genes that share phenotypes with ADCY9: view

Animal Models for ADCY9 Gene

MGI Knock Outs for ADCY9:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADCY9

miRNA for ADCY9 Gene

miRTarBase miRNAs that target ADCY9

No data available for Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADCY9 Gene

Localization for ADCY9 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCY9 Gene

Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ADCY9 Gene COMPARTMENTS Subcellular localization image for ADCY9 gene
Compartment Confidence
plasma membrane 5
cytosol 2
peroxisome 1

Gene Ontology (GO) - Cellular Components for ADCY9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0030425 dendrite IEA --
genes like me logo Genes that share ontologies with ADCY9: view

Pathways & Interactions for ADCY9 Gene

SuperPathways for ADCY9 Gene

Superpath Contained pathways
1 DAG and IP3 signaling
2 Interleukin-3, 5 and GM-CSF signaling
3 Circadian entrainment
4 Aquaporin-mediated transport
5 Development Endothelin-1/EDNRA signaling
genes like me logo Genes that share pathways with ADCY9: view

Interacting Proteins for ADCY9 Gene

SIGNOR curated interactions for ADCY9 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ADCY9 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006112 energy reserve metabolic process TAS --
GO:0006833 water transport TAS --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007193 adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway TAS --
GO:0007202 activation of phospholipase C activity TAS --
genes like me logo Genes that share ontologies with ADCY9: view

Drugs & Compounds for ADCY9 Gene

(13) Drugs for ADCY9 Gene - From: HMDB, Novoseek, Tocris, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine triphosphate Approved Nutra 0
Pyruvic acid Approved Nutra 0
cyclic amp Experimental Pharma 0
Forskolin Experimental Pharma Adenylyl cyclase activator 0
Cyclic GMP Experimental Pharma 0

(6) Additional Compounds for ADCY9 Gene - From: Tocris, HMDB, and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
phosphoric acid
  • Acide phosphorique (FRENCH)
  • Acido fosforico [Italian]
  • Acidum phosphoricum
  • Diphosphate tetrasodium
  • Fosforzuuroplossingen [Dutch]
7664-38-2
NKH 477
138605-00-2
PACAP 1-27
127317-03-7
PACAP 1-38
137061-48-4
SQ 22536
17318-31-9

(5) Tocris Compounds for ADCY9 Gene

Compound Action Cas Number
Forskolin Adenylyl cyclase activator 66575-29-9
NKH 477 Water-soluble adenylyl cyclase activator 138605-00-2
PACAP 1-27 Potent stimulator of adenylyl cyclase 127317-03-7
PACAP 1-38 Potent stimulator of adenylyl cyclase 137061-48-4
SQ 22536 Adenylyl cyclase inhibitor 17318-31-9
genes like me logo Genes that share compounds with ADCY9: view

Transcripts for ADCY9 Gene

Unigene Clusters for ADCY9 Gene

Adenylate cyclase 9:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ADCY9 Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13
SP1: - - -
SP2: - - - -
SP3: - - -
SP4: - - -
SP5: - -
SP6: - - -

Relevant External Links for ADCY9 Gene

GeneLoc Exon Structure for
ADCY9
ECgene alternative splicing isoforms for
ADCY9

Expression for ADCY9 Gene

mRNA expression in normal human tissues for ADCY9 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADCY9 Gene

This gene is overexpressed in Muscle - Skeletal (x5.8).

Protein differential expression in normal tissues from HIPED for ADCY9 Gene

This gene is overexpressed in Frontal cortex (23.6), Testis (15.6), Fetal Brain (11.1), Placenta (7.4), and Pancreas (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for ADCY9 Gene



SOURCE GeneReport for Unigene cluster for ADCY9 Gene Hs.391860

mRNA Expression by UniProt/SwissProt for ADCY9 Gene

O60503-ADCY9_HUMAN
Tissue specificity: Detected in skeletal muscle, pancreas, lung, heart, kidney, liver, brain and placenta (PubMed:9628827, PubMed:10987815). Expressed in multiple cells of the lung, with expression highest in airway smooth muscle (PubMed:12972952).
genes like me logo Genes that share expression patterns with ADCY9: view

Protein tissue co-expression partners for ADCY9 Gene

Primer Products

In Situ Assay Products

Orthologs for ADCY9 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADCY9 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ADCY9 35
  • 88.65 (n)
  • 91.41 (a)
ADCY9 36
  • 91 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ADCY9 35
  • 88.61 (n)
  • 92.97 (a)
ADCY9 36
  • 92 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Adcy9 35
  • 86.77 (n)
  • 92.17 (a)
Adcy9 16
Adcy9 36
  • 92 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ADCY9 35
  • 99.32 (n)
  • 99.47 (a)
ADCY9 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adcy9 35
  • 88.77 (n)
  • 94.86 (a)
oppossum
(Monodelphis domestica)
Mammalia ADCY9 36
  • 84 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADCY9 36
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADCY9 35
  • 77.34 (n)
  • 81.35 (a)
ADCY9 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADCY9 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia adcy9 35
  • 66.8 (n)
  • 71 (a)
Str.3341 35
African clawed frog
(Xenopus laevis)
Amphibia adcy9 35
zebrafish
(Danio rerio)
Actinopterygii LOC100333702 35
  • 64.69 (n)
  • 65.21 (a)
adcy9 36
  • 61 (a)
OneToMany
ADCY9 (2 of 2) 36
  • 55 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta Ac13E 37
  • 41 (a)
Ac13E 35
  • 53.03 (n)
  • 43.96 (a)
Ac13E 36
  • 28 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP000090 35
  • 57.02 (n)
  • 46.84 (a)
worm
(Caenorhabditis elegans)
Secernentea acy-1 37
  • 44 (a)
acy-1 35
  • 52.28 (n)
  • 48.46 (a)
acy-1 36
  • 34 (a)
OneToOne
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.6556 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 36 (a)
OneToOne
Species with no ortholog for ADCY9:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ADCY9 Gene

ENSEMBL:
Gene Tree for ADCY9 (if available)
TreeFam:
Gene Tree for ADCY9 (if available)

Paralogs for ADCY9 Gene

Paralogs for ADCY9 Gene

(2) SIMAP similar genes for ADCY9 Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with ADCY9: view

Variants for ADCY9 Gene

Sequence variations from dbSNP and Humsavar for ADCY9 Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs2230739 - 3,983,435(-) GTCAT(A/G)AAGAA reference, missense
rs61731445 - 3,966,376(-) TGTTG(A/C/G/T)TGTTG intron-variant, reference, missense
rs11359 -- 3,963,555(-) CAAAG(G/T)GGAGT intron-variant, utr-variant-3-prime
rs378024 -- 4,081,876(-) CGCCG(C/T)CCCCT intron-variant
rs378200 -- 4,093,180(+) ATTGA(C/T)TAAAA intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ADCY9 Gene

Variant ID Type Subtype PubMed ID
nsv833130 CNV Gain 17160897
esv21490 CNV Gain+Loss 19812545
nsv905218 CNV Loss 21882294
nsv833131 CNV Loss 17160897
nsv905219 CNV Loss 21882294
dgv2584n71 CNV Loss 21882294
nsv510410 CNV Loss 20534489
nsv525374 CNV Gain 19592680
nsv1718 CNV Insertion 18451855
esv2658820 CNV Deletion 23128226
esv2750422 CNV Deletion 23290073
nsv517942 CNV Loss 19592680
nsv526024 CNV Loss 19592680
nsv509593 CNV Insertion 20534489
esv2750423 CNV Deletion 23290073
esv2672506 CNV Deletion 23128226
nsv1719 CNV Loss 18451855
nsv528573 CNV Loss 19592680
dgv458n67 CNV Gain 20364138

Variation tolerance for ADCY9 Gene

Residual Variation Intolerance Score: 2.01% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.06; 68.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ADCY9 Gene

HapMap Linkage Disequilibrium report
ADCY9
Human Gene Mutation Database (HGMD)
ADCY9

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCY9 Gene

Disorders for ADCY9 Gene

MalaCards: The human disease database

(3) MalaCards diseases for ADCY9 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
rubinstein-taybi syndrome
  • broad thumb-hallux syndrome
restrictive cardiomyopathy
  • cardiomyopathy, familial restrictive, 1
malaria
  • malaria, severe
- elite association - COSMIC cancer census association via MalaCards
Search ADCY9 in MalaCards View complete list of genes associated with diseases

Relevant External Links for ADCY9

Genetic Association Database (GAD)
ADCY9
Human Genome Epidemiology (HuGE) Navigator
ADCY9
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADCY9
genes like me logo Genes that share disorders with ADCY9: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ADCY9 Gene

Publications for ADCY9 Gene

  1. Cloning, chromosomal mapping, and regulatory properties of the human type 9 adenylyl cyclase (ADCY9). (PMID: 9628827) Hacker B.M. … Storm D.R. (Genomics 1998) 2 3 4 23 67
  2. Pharmacogenetic study of the effects of NK2R G231E G>A and TBX21 H33Q C>G polymorphisms on asthma control with inhaled corticosteroid treatment. (PMID: 20175803) Ye Y.M. … Park H.S. (J Clin Pharm Ther 2009) 3 23
  3. Molecular properties and pharmacogenetics of a polymorphism of adenylyl cyclase type 9 in asthma: interaction between beta-agonist and corticosteroid pathways. (PMID: 15879435) Tantisira K.G. … Liggett S.B. (Hum. Mol. Genet. 2005) 3 23
  4. Novel regulatory properties of human type 9 adenylate cyclase. (PMID: 14996950) Cumbay M.G. … Watts V.J. (J. Pharmacol. Exp. Ther. 2004) 3 23
  5. An Ile to Met polymorphism in the catalytic domain of adenylyl cyclase type 9 confers reduced beta2-adrenergic receptor stimulation. (PMID: 12972952) Small K.M. … Liggett S.B. (Pharmacogenetics 2003) 3 23

Products for ADCY9 Gene

Sources for ADCY9 Gene

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