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Aliases for ADCY3 Gene

Aliases for ADCY3 Gene

  • Adenylate Cyclase 3 2 3 5
  • Adenylate Cyclase, Olfactive Type 3 4
  • Adenylate Cyclase Type III 3 4
  • ATP Pyrophosphate-Lyase 3 3 4
  • Adenylate Cyclase Type 3 3 4
  • Adenylyl Cyclase 3 3 4
  • EC 4.6.1.1 4 56
  • AC-III 3 4
  • AC3 3 4
  • Adenylyl Cyclase, Type III 3
  • KIAA0511 4
  • EC 4.6.1 56
  • BMIQ19 3

External Ids for ADCY3 Gene

Previous GeneCards Identifiers for ADCY3 Gene

  • GC02M024963
  • GC02M025134
  • GC02M024999
  • GC02M025016
  • GC02M024953
  • GC02M025042
  • GC02M024779

Summaries for ADCY3 Gene

Entrez Gene Summary for ADCY3 Gene

  • This gene encodes adenylyl cyclase 3 which is a membrane-associated enzyme and catalyzes the formation of the secondary messenger cyclic adenosine monophosphate (cAMP). This protein appears to be widely expressed in various human tissues and may be involved in a number of physiological and pathophysiological metabolic processes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

GeneCards Summary for ADCY3 Gene

ADCY3 (Adenylate Cyclase 3) is a Protein Coding gene. Diseases associated with ADCY3 include Body Mass Index Quantitative Trait Locus 19. Among its related pathways are Human Thyroid Stimulating Hormone (TSH) signaling pathway and ADP signalling through P2Y purinoceptor 12. Gene Ontology (GO) annotations related to this gene include nucleotide binding and phosphorus-oxygen lyase activity. An important paralog of this gene is ADCY5.

UniProtKB/Swiss-Prot for ADCY3 Gene

  • Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Participates in signaling cascades triggered by odorant receptors via its function in cAMP biosynthesis. Required for the perception of odorants. Required for normal sperm motility and normal male fertility. Plays a role in regulating insulin levels and body fat accumulation in response to a high fat diet.

Tocris Summary for ADCY3 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 ADCY3 Gene

Additional gene information for ADCY3 Gene

No data available for CIViC summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ADCY3 Gene

Genomics for ADCY3 Gene

GeneHancer (GH) Regulatory Elements for ADCY3 Gene

Promoters and enhancers for ADCY3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J024917 Promoter/Enhancer 1.9 EPDnew Ensembl ENCODE 1037.7 +0.1 138 3.8 CTCF ZSCAN21 MLLT1 SP7 POLR2A EGR1 IKZF1 GLIS2 ZBTB8A PRDM10 ADCY3 LOC105377626
GH02J024970 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 37.7 -52.4 -52372 3.6 MNT SP1 ZFX CBFA2T2 ELF3 ZNF652 RERE GTF2F1 MLLT1 ZNF687 DNAJC27-AS1 DNAJC27 ADCY3 EFR3B FKBP1B ASXL2 WDCP DTNB LINC01381 POMC
GH02J024871 Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 57.4 +46.2 46239 5.2 CREB1 ZIC2 CTBP1 CEBPB CHD2 RCOR1 MAX ESRRA EP300 PRDM1 ADCY3 CENPO LOC105377626
GH02J024854 Enhancer 1.1 Ensembl ENCODE dbSUPER 51 +64.0 64038 3.6 CBFA2T2 SMARCA4 RXRA ZIC2 ZNF600 SP1 PATZ1 HDAC1 EP300 SOX6 ADCY3 LOC105377626
GH02J024877 Enhancer 0.7 Ensembl ENCODE 55.9 +41.3 41251 2.9 ZNF384 FOXA2 POLR2A CEBPB NR2F6 FOXA3 NR2F1 ADCY3 PTRHD1 LOC105377626
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADCY3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADCY3 gene promoter:
  • FOXO4
  • Ik-2
  • Oct-B1
  • oct-B2
  • oct-B3
  • POU2F1
  • POU2F1a
  • POU2F2
  • POU2F2B
  • POU2F2C

Genomic Locations for ADCY3 Gene

Genomic Locations for ADCY3 Gene
chr2:24,819,169-24,919,839
(GRCh38/hg38)
Size:
100,671 bases
Orientation:
Minus strand
chr2:25,042,038-25,142,708
(GRCh37/hg19)
Size:
100,671 bases
Orientation:
Minus strand

Genomic View for ADCY3 Gene

Genes around ADCY3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCY3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCY3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCY3 Gene

Proteins for ADCY3 Gene

  • Protein details for ADCY3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60266-ADCY3_HUMAN
    Recommended name:
    Adenylate cyclase type 3
    Protein Accession:
    O60266
    Secondary Accessions:
    • B3KT86
    • Q53T54
    • Q9UDB1

    Protein attributes for ADCY3 Gene

    Size:
    1144 amino acids
    Molecular mass:
    128960 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for ADCY3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADCY3 Gene

Selected DME Specific Peptides for ADCY3 Gene

O60266:
  • RIKILGDCYYC
  • ADIVGFT
  • TVNVASR
  • AGVIGARKP
  • WQYDVWS
  • ASRMEST
  • MRVGVHTGTVL

Post-translational modifications for ADCY3 Gene

  • Sumoylated. Sumoylation is required for targeting ot olfactory cilia.
  • N-glycosylated.
  • Rapidly phosphorylated after stimulation by odorants or forskolin. Phosphorylation by CaMK2 at Ser-1076 down-regulates enzyme activity.
  • Ubiquitination at Lys1046, Lys1111, and posLast=11201120
  • Glycosylation at Asn736
  • Modification sites at PhosphoSitePlus

Domains & Families for ADCY3 Gene

Gene Families for ADCY3 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ADCY3 Gene

Suggested Antigen Peptide Sequences for ADCY3 Gene

GenScript: Design optimal peptide antigens:
  • Adenylyl cyclase 3 (ADCY3_HUMAN)
  • cDNA FLJ37854 fis, clone BRSSN2014610, highly similar to Adenylate cyclase type 3 (EC 4.6.1.1) (B3KT86_HUMAN)
  • ADCY3 protein (B7ZLX9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60266

UniProtKB/Swiss-Prot:

ADCY3_HUMAN :
  • The protein contains two modules with six transmembrane helices each; both are required for catalytic activity. Isolated N-terminal or C-terminal modules have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two modules.
  • 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 modules have no catalytic activity, but when they are brought together, enzyme activity is restored. The active site is at the interface of the two modules.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with ADCY3: view

Function for ADCY3 Gene

Molecular function for ADCY3 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling. Participates in signaling cascades triggered by odorant receptors via its function in cAMP biosynthesis. Required for the perception of odorants. Required for normal sperm motility and normal male fertility. Plays a role in regulating insulin levels and body fat accumulation in response to a high fat diet.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=ATP = 3',5'-cyclic AMP + diphosphate; Xref=Rhea:RHEA:15389, ChEBI:CHEBI:30616, ChEBI:CHEBI:33019, ChEBI:CHEBI:58165; EC=4.6.1.1;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by forskolin. After forskolin treatment, activity is further increased by calcium/calmodulin. In the absence of forskolin, calcium/calmodulin has little effect on enzyme activity.
GENATLAS Biochemistry:
adenylyl cyclase,type III,calmodulin sensitive,olfactory sensory neurons,brain,spinal and retina,heart,kidney,liver,lung,pancreas,placenta,skeletal muscle

Enzyme Numbers (IUBMB) for ADCY3 Gene

Phenotypes From GWAS Catalog for ADCY3 Gene

Gene Ontology (GO) - Molecular Function for ADCY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004016 adenylate cyclase activity ISS,IEA --
GO:0005516 calmodulin binding IEA --
GO:0005524 ATP binding IEA --
GO:0016829 lyase activity IEA --
GO:0016849 phosphorus-oxygen lyase activity IEA --
genes like me logo Genes that share ontologies with ADCY3: view
genes like me logo Genes that share phenotypes with ADCY3: view

Animal Models for ADCY3 Gene

MGI Knock Outs for ADCY3:

Animal Model Products

  • Taconic Biosciences Mouse Models for ADCY3

CRISPR Products

miRNA for ADCY3 Gene

Clone Products

  • Applied Biological Materials (abm): Clones for ADCY3 - Now 50% OFF >
  • * ADCY3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ADCY3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for ADCY3 Gene

Localization for ADCY3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCY3 Gene

Cell membrane; Multi-pass membrane protein. Cytoplasm. Cell projection, cilium. Golgi apparatus. Note=Also detected in the cytoplasm, close to lipid droplets. {ECO:0000269 PubMed:11549699}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ADCY3 gene
Compartment Confidence
plasma membrane 5
golgi apparatus 4
nucleus 3
cytosol 2
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for ADCY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IDA,IEA 11549699
GO:0005794 Golgi apparatus ISS --
GO:0005886 plasma membrane TAS,IEA --
GO:0005887 integral component of plasma membrane TAS,IBA 21873635
GO:0005929 cilium ISS,IEA --
genes like me logo Genes that share ontologies with ADCY3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ADCY3 Gene

Pathways & Interactions for ADCY3 Gene

PathCards logo

SuperPathways for ADCY3 Gene

SuperPathway Contained pathways
1 DAG and IP3 signaling
2 Aldosterone synthesis and secretion
3 RET signaling
4 G-Beta Gamma Signaling
5 Circadian entrainment
genes like me logo Genes that share pathways with ADCY3: view

SIGNOR curated interactions for ADCY3 Gene

Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for ADCY3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003091 renal water homeostasis TAS --
GO:0006171 cAMP biosynthetic process IEA,ISS --
GO:0007165 signal transduction TAS 9920776
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway TAS,IEA --
genes like me logo Genes that share ontologies with ADCY3: view

Drugs & Compounds for ADCY3 Gene

(19) Drugs for ADCY3 Gene - From: ApexBio, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Approved Nutra 7539
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
NADH Approved Nutra 0
Pyruvic acid Approved, Investigational Nutra 0

(4) Additional Compounds for ADCY3 Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8

(5) Tocris Compounds for ADCY3 Gene

Compound Action Cas Number
Forskolin Adenylyl cyclase activator 66575-29-9
KH 7 Selective soluble adenylyl cyclase inhibitor 330676-02-3
MDL 12330A hydrochloride Adenylyl cyclase inhibitor; also cyclic nucleotide PDE inhibitor 40297-09-4
NKH 477 Water-soluble adenylyl cyclase activator 138605-00-2
SQ 22536 Adenylyl cyclase inhibitor 17318-31-9

(8) ApexBio Compounds for ADCY3 Gene

Compound Action Cas Number
1,9-Dideoxyforskolin 64657-18-7
Forskolin 66575-29-9
KH 7 330676-02-3
MDL 12330A hydrochloride adenylate cyclase inhibitor 40297-09-4
N6-methyladenosine (m6A) adenylate cyclase regulator 1867-73-8
NKH 477 138605-00-2
NKY 80 299442-43-6
SQ 22536 17318-31-9
genes like me logo Genes that share compounds with ADCY3: view

Drug Products

Transcripts for ADCY3 Gene

mRNA/cDNA for ADCY3 Gene

Unigene Clusters for ADCY3 Gene

Adenylate cyclase 3:
Representative Sequences:

CRISPR Products

Clone Products

  • Applied Biological Materials (abm): Clones for ADCY3 - Now 50% OFF >
  • * ADCY3 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
  • * ADCY3 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All

Alternative Splicing Database (ASD) splice patterns (SP) for ADCY3 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5a · 5b ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b ^
SP1: -
SP2: -
SP3:
SP4:
SP5: -
SP6:
SP7:
SP8:
SP9:
SP10: - -
SP11: - -
SP12: -
SP13:
SP14:
SP15:

ExUns: 16a · 16b ^ 17a · 17b ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b ^ 25
SP1:
SP2:
SP3: -
SP4: - -
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:
SP12:
SP13:
SP14:
SP15:

Relevant External Links for ADCY3 Gene

GeneLoc Exon Structure for
ADCY3
ECgene alternative splicing isoforms for
ADCY3

Expression for ADCY3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADCY3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for ADCY3 Gene

This gene is overexpressed in Lung (44.6), Esophagus (10.8), and Heart (8.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADCY3 Gene



Protein tissue co-expression partners for ADCY3 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ADCY3 Gene:

ADCY3

SOURCE GeneReport for Unigene cluster for ADCY3 Gene:

Hs.467898

mRNA Expression by UniProt/SwissProt for ADCY3 Gene:

O60266-ADCY3_HUMAN
Tissue specificity: Detected in zona glomerulosa and zona fasciculata in the adrenal gland (at protein level) (PubMed:11549699). Expressed in brain, heart, kidney, liver, lung, pancreas islets, placenta, and skeletal muscle (PubMed:9920776). Detected in testis (PubMed:15705663).

Evidence on tissue expression from TISSUES for ADCY3 Gene

  • Nervous system(4.8)
  • Lung(2.3)
genes like me logo Genes that share expression patterns with ADCY3: view

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for ADCY3 Gene

Orthologs for ADCY3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADCY3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADCY3 35 34
  • 99.53 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADCY3 35 34
  • 90.62 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADCY3 35 34
  • 90.36 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Adcy3 17 35 34
  • 89.99 (n)
rat
(Rattus norvegicus)
Mammalia Adcy3 34
  • 89.34 (n)
oppossum
(Monodelphis domestica)
Mammalia ADCY3 35
  • 88 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ADCY3 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves ADCY3 35 34
  • 79.14 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADCY3 35
  • 68 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia dnajc27 34
  • 75.25 (n)
zebrafish
(Danio rerio)
Actinopterygii ADCY3 35
  • 77 (a)
OneToOne
adcy3l 34
  • 73.85 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP009315 34
  • 55.35 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ac3 35 36 34
  • 51.2 (n)
OneToOne
Ac78C 36
  • 38 (a)
worm
(Caenorhabditis elegans)
Secernentea acy-4 36
  • 45 (a)
Species where no ortholog for ADCY3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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 squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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 ADCY3 Gene

ENSEMBL:
Gene Tree for ADCY3 (if available)
TreeFam:
Gene Tree for ADCY3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADCY3: view image

Paralogs for ADCY3 Gene

(10) SIMAP similar genes for ADCY3 Gene using alignment to 10 proteins:

  • ADCY3_HUMAN
  • B3KT86_HUMAN
  • B7ZLX9_HUMAN
  • C9J969_HUMAN
  • C9JLX3_HUMAN
  • C9JYB5_HUMAN
  • H7C1A6_HUMAN
  • H7C1S5_HUMAN
  • U3KQ91_HUMAN
  • U3KQR1_HUMAN
genes like me logo Genes that share paralogs with ADCY3: view

Variants for ADCY3 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ADCY3 Gene

ADCY3_HUMAN-O60266
Genetic variations at the ADCY3 locus define the body mass index quantitative trait locus 19 (BMIQ19) [MIM:617885]. Variance in body mass index is a susceptibility factor for obesity.

Sequence variations from dbSNP and Humsavar for ADCY3 Gene

SNP ID Clin Chr 02 pos Variation AA Info Type
rs1331776405 risk-factor, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 24,827,609(-) C/T splice_acceptor_variant
rs1553329804 risk-factor, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 24,820,052(-) GGGG/GGG 3_prime_UTR_variant, coding_sequence_variant, frameshift
rs1553333167 risk-factor, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 24,824,537(-) C/T splice_acceptor_variant
rs750852737 risk-factor, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 24,820,011(-) AAGAAGAAG/AAGAAG 3_prime_UTR_variant, coding_sequence_variant, inframe_deletion
rs754914420 risk-factor, BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 19 24,839,960(-) CCCCCC/CCCCC/CCCCCCC coding_sequence_variant, frameshift

Structural Variations from Database of Genomic Variants (DGV) for ADCY3 Gene

Variant ID Type Subtype PubMed ID
esv2666034 CNV deletion 23128226
esv2668898 CNV deletion 23128226
esv2673418 CNV deletion 23128226
esv2678377 CNV deletion 23128226
esv3553955 CNV deletion 23714750
esv3590077 CNV loss 21293372
esv3590078 CNV loss 21293372
esv3590080 CNV loss 21293372
esv3590081 CNV loss 21293372
esv3590082 CNV loss 21293372
esv989967 CNV deletion 20482838
nsv1000020 CNV gain 25217958
nsv1004529 CNV loss 25217958
nsv1008732 CNV loss 25217958
nsv2645 CNV deletion 18451855
nsv2646 CNV insertion 18451855
nsv477077 CNV novel sequence insertion 20440878
nsv508831 CNV insertion 20534489
nsv524979 CNV loss 19592680
nsv997725 CNV gain 25217958

Variation tolerance for ADCY3 Gene

Residual Variation Intolerance Score: 3.81% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADCY3 Gene

Human Gene Mutation Database (HGMD)
ADCY3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADCY3

SNP Genotyping and Copy Number Assay Products

Disorders for ADCY3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for ADCY3 Gene - From: HGMD, OMIM, ClinVar, and GeneCards

Disorder Aliases PubMed IDs
body mass index quantitative trait locus 19
  • obesity
- elite association - COSMIC cancer census association via MalaCards
Search ADCY3 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADCY3_HUMAN
  • Obesity (OBESITY) [MIM:601665]: A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. {ECO:0000269 PubMed:29311636, ECO:0000269 PubMed:29311637}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.

Additional Disease Information for ADCY3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with ADCY3: view

No data available for Genatlas for ADCY3 Gene

Publications for ADCY3 Gene

  1. Molecular cloning of a full-length cDNA for human type 3 adenylyl cyclase and its expression in human islets. (PMID: 9920776) Yang B … Hillert J (Biochemical and biophysical research communications 1999) 2 3 4 23 58
  2. Genetic variation of the adenylyl cyclase 3 (AC3) locus and its influence on type 2 diabetes and obesity susceptibility in Swedish men. (PMID: 17895882) Nordman S … Gu HF (International journal of obesity (2005) 2008) 3 23 45 58
  3. Expression and regulation of adenylyl cyclase isoforms in the human adrenal gland. (PMID: 11549699) Côté M … Gallo-Payet N (The Journal of clinical endocrinology and metabolism 2001) 3 4 23 58
  4. Meta-analysis identifies common variants associated with body mass index in east Asians. (PMID: 22344219) Wen W … Shu XO (Nature genetics 2012) 3 45 58
  5. Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. (PMID: 20935630) Speliotes EK … Loos RJ (Nature genetics 2010) 3 45 58

Products for ADCY3 Gene

Sources for ADCY3 Gene

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