This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide po... See more...

Aliases for ADCY5 Gene

Aliases for ADCY5 Gene

  • Adenylate Cyclase 5 2 3 5
  • ATP Pyrophosphate-Lyase 5 3 4
  • Adenylate Cyclase Type 5 3 4
  • Adenylate Cyclase Type V 3 4
  • Adenylyl Cyclase 5 3 4
  • EC 4.6.1.1 4 54
  • AC5 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • FDFM 3

External Ids for ADCY5 Gene

Previous GeneCards Identifiers for ADCY5 Gene

  • GC03M119766
  • GC03M122949
  • GC03M124282
  • GC03M124323
  • GC03M124324
  • GC03M124486
  • GC03M120376

Summaries for ADCY5 Gene

Entrez Gene Summary for ADCY5 Gene

  • This gene encodes a member of the membrane-bound adenylyl cyclase enzymes. Adenylyl cyclases mediate G protein-coupled receptor signaling through the synthesis of the second messenger cAMP. Activity of the encoded protein is stimulated by the Gs alpha subunit of G protein-coupled receptors and is inhibited by protein kinase A, calcium and Gi alpha subunits. Single nucleotide polymorphisms in this gene may be associated with low birth weight and type 2 diabetes. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene. [provided by RefSeq, Dec 2010]

GeneCards Summary for ADCY5 Gene

ADCY5 (Adenylate Cyclase 5) is a Protein Coding gene. Diseases associated with ADCY5 include Dyskinesia, Familial, With Facial Myokymia and Chorea, Benign Hereditary. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include protein heterodimerization activity and phosphorus-oxygen lyase activity. An important paralog of this gene is ADCY6.

UniProtKB/Swiss-Prot Summary for ADCY5 Gene

  • Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:26206488, PubMed:24700542). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569).

Tocris Summary for ADCY5 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 ADCY5 Gene

Additional gene information for ADCY5 Gene

No data available for CIViC Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ADCY5 Gene

Genomics for ADCY5 Gene

GeneHancer (GH) Regulatory Elements for ADCY5 Gene

Promoters and enhancers for ADCY5 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
GH03J123446 Promoter/Enhancer 2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 754.1 +2.2 2157 6.4 CTCF L3MBTL2 GLIS2 ZIC2 ZBTB8A PRDM10 PATZ1 POLR2A ZNF692 ZBTB20 ADCY5 SEC22A lnc-HACD2-7
GH03J123451 Enhancer 0.7 ENCODE dbSUPER 750.6 -1.6 -1631 0.2 CREB1 CTBP1 FOXA2 DPF2 NR2F2 ELK1 HNF4A BCL6 RARA SMARCE1 ADCY5 lnc-SEC22A-6
GH03J123450 Enhancer 0.4 ENCODE dbSUPER 750.6 -1.2 -1217 0.2 NR2F2 ADCY5 lnc-SEC22A-6
GH03J123409 Promoter/Enhancer 1.6 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 28.2 +37.5 37545 7.2 SREBF1 ZNF217 SP1 NCOA3 MAFK SP7 CREB1 ZIC2 CTBP1 FOXA2 ADCY5 SEC22A HSPBAP1 MYLK lnc-HACD2-7 RF00951-110
GH03J123581 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 9.7 -135.5 -135504 6.5 ZNF24 CTCF SIX5 ZBTB6 FOXA1 POLR2A CREB1 HCFC1 MIXL1 MYC HACD2 MYLK-AS1 SEC22A HSPBAP1 PDIA5 ADCY5 lnc-SEC22A-14
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ADCY5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ADCY5 gene promoter:
  • CREB
  • deltaCREB
  • E2F
  • E2F-1
  • E2F-2
  • E2F-4
  • NRSF form 1
  • NRSF form 2

Genomic Locations for ADCY5 Gene

Genomic Locations for ADCY5 Gene
chr3:123,282,296-123,449,758
(GRCh38/hg38)
Size:
167,463 bases
Orientation:
Minus strand
chr3:123,001,143-123,168,605
(GRCh37/hg19)
Size:
167,463 bases
Orientation:
Minus strand

Genomic View for ADCY5 Gene

Genes around ADCY5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ADCY5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ADCY5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ADCY5 Gene

Proteins for ADCY5 Gene

  • Protein details for ADCY5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95622-ADCY5_HUMAN
    Recommended name:
    Adenylate cyclase type 5
    Protein Accession:
    O95622
    Secondary Accessions:
    • B7Z8A6
    • Q7RTV7
    • Q8NFM3

    Protein attributes for ADCY5 Gene

    Size:
    1261 amino acids
    Molecular mass:
    138908 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    • Interacts with GNAS, GNB1 and GNG2 (PubMed:26206488). Part of a complex containing AKAP5, ADCY6, PDE4C and PKD2 (By similarity). Interacts with RAF1 (PubMed:15385642).

    Alternative splice isoforms for ADCY5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ADCY5 Gene

Selected DME Specific Peptides for ADCY5 Gene

O95622:
  • ERLLLSVLP
  • VQITIVPHS
  • RMRAAVLSG
  • MRVGIHSG
  • QQERLLLS
  • AGRIHIT
  • LNEIIADFDEIISE
  • NPEDEVDEFL
  • TYMAASGLN
  • RAIDARSID
  • RGGPEHR
  • CTHYPAEVSQRQAFQETR
  • GDDPLAGGFGFSFRS
  • RFGAYVACA
  • LERLYQRYF
  • SRMDSTGV
  • RIKILGDCYYC
  • FHKIYIQ
  • SVLLSLLA
  • TVNVASR
  • DLEKKYS
  • MAVLCNRAAFHQDHMGLACYALIAVVLAVQVVGLLLPQPR
  • AGVIGARKP
  • LAVLAAAVGVIL
  • LASQCTAQELV
  • CGVLGLRKWQFDVWS
  • TYFLNGGP
  • YQLECRGVVKVKGKGEM
  • FMLSFYL
  • EKEEMEELQAYNRRLLHNILPKDVAAHFLARERRNDEL
  • NSTLVGVFTITLVFL
  • EKIKTIG
  • LNGDYEVEPG
  • LSRKIVRSK
  • DHAHCCVEMG
  • IETFLIL
  • ECLRLLNEII
  • DVTLANHME
  • RLDFLWK
  • QKRKEEKAM
  • VTLFDNADLLVTANAID

Post-translational modifications for ADCY5 Gene

Domains & Families for ADCY5 Gene

Gene Families for ADCY5 Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for ADCY5 Gene

Suggested Antigen Peptide Sequences for ADCY5 Gene

GenScript: Design optimal peptide antigens:
  • Adenylyl cyclase 5 (ADCY5_HUMAN)
  • cDNA FLJ42701 fis, clone BRAMY3004919, highly similar to Adenylate cyclase type 5 (EC 4.6.1.1) (B3KWA8_HUMAN)
  • cDNA FLJ59802, highly similar to Adenylate cyclase type 5 (EC 4.6.1.1) (B7Z8A6_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95622

UniProtKB/Swiss-Prot:

ADCY5_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.
Family:
  • Belongs to the adenylyl cyclase class-4/guanylyl cyclase family.
genes like me logo Genes that share domains with ADCY5: view

Function for ADCY5 Gene

Molecular function for ADCY5 Gene

UniProtKB/Swiss-Prot Function:
Catalyzes the formation of the signaling molecule cAMP in response to G-protein signaling (PubMed:15385642, PubMed:26206488, PubMed:24700542). Mediates signaling downstream of ADRB1 (PubMed:24700542). Regulates the increase of free cytosolic Ca(2+) in response to increased blood glucose levels and contributes to the regulation of Ca(2+)-dependent insulin secretion (PubMed:24740569).
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; Evidence={ECO:0000269 PubMed:15385642, ECO:0000269 PubMed:24700542, ECO:0000269 PubMed:26206488};.
UniProtKB/Swiss-Prot EnzymeRegulation:
Activated by forskolin (PubMed:24700542). Activated by GNAS. Activity is further increased by interaction with the G-protein beta and gamma subunit complex formed by GNB1 and GNG2 (PubMed:26206488). Is not activated by calmodulin. Inhibited by adenosine and ATP analogs. Inhibited by calcium ions, already at micromolar concentrations (By similarity). Phosphorylation by RAF1 results in its activation (PubMed:15385642).
GENATLAS Biochemistry:
adenylyl cyclase,type V,ubiquitous

Enzyme Numbers (IUBMB) for ADCY5 Gene

Phenotypes From GWAS Catalog for ADCY5 Gene

Gene Ontology (GO) - Molecular Function for ADCY5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004016 adenylate cyclase activity IEA,IMP 24740569
GO:0005524 ATP binding IEA --
GO:0008179 adenylate cyclase binding ISS --
GO:0016829 lyase activity IEA --
GO:0016849 phosphorus-oxygen lyase activity IEA --
genes like me logo Genes that share ontologies with ADCY5: view
genes like me logo Genes that share phenotypes with ADCY5: view

Human Phenotype Ontology for ADCY5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ADCY5 Gene

MGI Knock Outs for ADCY5:

Animal Model Products

CRISPR Products

Clone Products

No data available for Transcription Factor Targets and HOMER Transcription for ADCY5 Gene

Localization for ADCY5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ADCY5 Gene

Cell membrane; Multi-pass membrane protein. Cell projection, cilium.

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 ADCY5 gene
Compartment Confidence
plasma membrane 5
cytoskeleton 4
extracellular 1
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADCY5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS,IEA --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0005929 cilium ISS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IDA,IEA 15385642
genes like me logo Genes that share ontologies with ADCY5: view

Pathways & Interactions for ADCY5 Gene

PathCards logo

SuperPathways for ADCY5 Gene

SuperPathway Contained pathways
1 DAG and IP3 signaling
2 RET signaling
3 Aldosterone synthesis and secretion
4 Circadian entrainment
5 Aquaporin-mediated transport
genes like me logo Genes that share pathways with ADCY5: view

SIGNOR curated interactions for ADCY5 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ADCY5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001973 adenosine receptor signaling pathway IEA --
GO:0003091 renal water homeostasis TAS --
GO:0006171 cAMP biosynthetic process IMP,IEA 24740569
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007189 adenylate cyclase-activating G protein-coupled receptor signaling pathway TAS --
genes like me logo Genes that share ontologies with ADCY5: view

Drugs & Compounds for ADCY5 Gene

(24) Drugs for ADCY5 Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aurothioglucose Approved, Withdrawn Pharma Target 0
Magnesium Approved, Experimental, Investigational Pharma 0
Phosphoric acid Approved Pharma 0
Calcium Approved Nutra 7773
NADH Approved Nutra 0

(2) Additional Compounds for ADCY5 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 ADCY5 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

(7) ApexBio Compounds for ADCY5 Gene

Compound Action Cas Number
1,9-Dideoxyforskolin 64657-18-7
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 ADCY5: view

Transcripts for ADCY5 Gene

mRNA/cDNA for ADCY5 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ADCY5 Gene

No ASD Table

Relevant External Links for ADCY5 Gene

GeneLoc Exon Structure for
ADCY5
ECgene alternative splicing isoforms for
ADCY5

Expression for ADCY5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ADCY5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ADCY5 Gene

This gene is overexpressed in Esophagus - Gastroesophageal Junction (x4.2).

Protein differential expression in normal tissues from HIPED for ADCY5 Gene

This gene is overexpressed in Breast (55.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ADCY5 Gene



Protein tissue co-expression partners for ADCY5 Gene

NURSA nuclear receptor signaling pathways regulating expression of ADCY5 Gene:

ADCY5

SOURCE GeneReport for Unigene cluster for ADCY5 Gene:

Hs.593292

mRNA Expression by UniProt/SwissProt for ADCY5 Gene:

O95622-ADCY5_HUMAN
Tissue specificity: Detected in pancreas islets (at protein level). Detected in pancreas islets.

Evidence on tissue expression from TISSUES for ADCY5 Gene

  • Heart(4.5)
  • Muscle(4.5)
  • Nervous system(3.9)
  • Blood(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ADCY5 Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • face
  • head
Thorax:
  • diaphragm
  • lung
Limb:
  • foot
  • hand
  • lower limb
  • upper limb
General:
  • peripheral nervous system
genes like me logo Genes that share expression patterns with ADCY5: view

Orthologs for ADCY5 Gene

This gene was present in the common ancestor of animals.

Orthologs for ADCY5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ADCY5 33 32
  • 99.29 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ADCY5 33 32
  • 92.53 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ADCY5 33 32
  • 91.22 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Adcy5 32
  • 89.51 (n)
mouse
(Mus musculus)
Mammalia Adcy5 17 33 32
  • 89.48 (n)
oppossum
(Monodelphis domestica)
Mammalia ADCY5 33
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 69 (a)
OneToMany
-- 33
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves ADCY5 33 32
  • 75.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADCY5 33
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii adcy5 33 32
  • 74.08 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG43373 33 32
  • 59.8 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002998 32
  • 59.17 (n)
worm
(Caenorhabditis elegans)
Secernentea acy-4 32
  • 49.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 50 (a)
OneToMany
Species where no ortholog for ADCY5 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ADCY5 Gene

ENSEMBL:
Gene Tree for ADCY5 (if available)
TreeFam:
Gene Tree for ADCY5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ADCY5: view image

Paralogs for ADCY5 Gene

(11) SIMAP similar genes for ADCY5 Gene using alignment to 5 proteins:

  • ADCY5_HUMAN
  • B3KWA8_HUMAN
  • C9JQ38_HUMAN
  • C9JRT8_HUMAN
  • F8WBM0_HUMAN
genes like me logo Genes that share paralogs with ADCY5: view

Variants for ADCY5 Gene

Sequence variations from dbSNP and Humsavar for ADCY5 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1057518757 uncertain-significance, Dysarthria, Language impairment, Parkinsonism 123,447,897(-) GG/G coding_sequence_variant, frameshift, genic_upstream_transcript_variant
rs1286137967 uncertain-significance, Myopathy, distal, 4 123,347,820(-) C/T coding_sequence_variant, missense_variant
rs1365372289 uncertain-significance, Inborn genetic diseases 123,296,110(-) G/A coding_sequence_variant, missense_variant
rs1553732126 likely-pathogenic, Inborn genetic diseases 123,347,876(-) GGGG/GGGGG 5_prime_UTR_variant, coding_sequence_variant, frameshift
rs1553751262 likely-pathogenic, Inborn genetic diseases 123,448,118(-) GCCGCCGCCGCCGAGCCGCCGCCGCCGCC/GCCGCCGCC coding_sequence_variant, frameshift, genic_upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for ADCY5 Gene

Variant ID Type Subtype PubMed ID
dgv8528n54 CNV loss 21841781
dgv8529n54 CNV gain 21841781
dgv8530n54 CNV gain 21841781
esv21931 CNV loss 19812545
esv2627675 CNV insertion 19546169
esv3308428 CNV mobile element insertion 20981092
esv3353243 CNV insertion 20981092
esv3434677 CNV duplication 20981092
esv3597623 CNV loss 21293372
nsv1003681 CNV gain 25217958
nsv1109542 CNV deletion 24896259
nsv1114420 CNV deletion 24896259
nsv3976 CNV insertion 18451855
nsv591411 CNV loss 21841781
nsv591414 CNV gain+loss 21841781
nsv822229 CNV gain 20364138
nsv829707 CNV loss 17160897

Variation tolerance for ADCY5 Gene

Residual Variation Intolerance Score: 1.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.44; 43.01% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ADCY5 Gene

Human Gene Mutation Database (HGMD)
ADCY5
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ADCY5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ADCY5 Gene

Disorders for ADCY5 Gene

MalaCards: The human disease database

(8) MalaCards diseases for ADCY5 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ADCY5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADCY5_HUMAN
  • Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703]: A disorder characterized by predominantly perioral and periorbital myokymia, and face, neck and upper limb dystonic/choreic movements. Initially paroxysmal and worsened by stress, the dyskinetic episodes become nearly constant by the end of the third decade of life, but in some individuals, they may diminish in frequency and severity at older ages. {ECO:0000269 PubMed:22782511, ECO:0000269 PubMed:24700542}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ADCY5

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 ADCY5: view

No data available for Genatlas for ADCY5 Gene

Publications for ADCY5 Gene

  1. Cloning and sequence of partial cDNAs encoding the human type V and VI adenylyl cyclases and subsequent RNA-quantification in various tissues. (PMID: 10481931) Raimundo S … Wisser H (Clinica chimica acta; international journal of clinical chemistry 1999) 2 3 4 56
  2. ADCY5 couples glucose to insulin secretion in human islets. (PMID: 24740569) Hodson DJ … Rutter GA (Diabetes 2014) 3 4 56
  3. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. (PMID: 24700542) Chen YZ … Torkamani A (Annals of neurology 2014) 3 4 56
  4. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B … Franks PW (Diabetologia 2010) 3 43 56
  5. Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight. (PMID: 20490451) Andersson EA … Pedersen O (Diabetologia 2010) 3 43 56

Products for ADCY5 Gene

Sources for ADCY5 Gene