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Aliases for ADCY5 Gene

Aliases for ADCY5 Gene

  • Adenylate Cyclase 5 2 3 5
  • ATP Pyrophosphate-Lyase 5 3 4
  • Adenylate Cyclase Type V 3 4
  • Adenylyl Cyclase 5 3 4
  • EC 4.6.1.1 4 58
  • AC5 3 4
  • Adenylate Cyclase Type 5 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 Adcy5-Related Dyskinesia. Among its related pathways are GABAergic synapse and Regulation of CFTR activity (norm and CF). 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 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 , fRNAdb sequence ontologies and piRNA Summary for ADCY5 Gene

Genomics for ADCY5 Gene

Regulatory Elements for ADCY5 Gene

Enhancers for ADCY5 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03H123409 1.7 FANTOM5 Ensembl ENCODE dbSUPER 28.2 +37.5 37545 7.2 FOXA2 PKNOX1 NFIB FEZF1 ZIC2 TEAD3 ZFHX2 CTBP1 GATA3 POLR2A ADCY5 SEC22A HSPBAP1 MYLK GC03P123375
GH03H123382 1.2 Ensembl ENCODE dbSUPER 18.8 +63.2 63164 7.6 CTCF ZNF687 ZSCAN4 ZMYM3 REST GLI4 ZIC2 ZNF592 NR2F2 ZFHX2 ADCY5 SEC22A PARP9 GC03P123375
GH03H123406 0.8 FANTOM5 dbSUPER 24.9 +43.0 42950 0.2 ZNF223 HNF4A ZIC2 YY1 ADCY5 GC03P123375
GH03H123581 1.7 FANTOM5 Ensembl ENCODE 9.7 -135.5 -135504 6.5 HDGF PKNOX1 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 SLC30A9 SEC22A ADCY5 HACD2 MYLK-AS1
GH03H123408 0.5 FANTOM5 dbSUPER 21.4 +41.4 41419 0 ADCY5 GC03P123375
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ADCY5 on UCSC Golden Path with GeneCards custom track

Promoters for ADCY5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000157443 158 1201 MAZ MXI1 ZNF687 CHD1 ZBTB8A ZNF398 ZNF692 ZNF341 GLIS1 KLF9

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)

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

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

GENATLAS Biochemistry:
adenylyl cyclase,type V,ubiquitous
UniProtKB/Swiss-Prot CatalyticActivity:
ATP = 3,5-cyclic AMP + diphosphate.
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).
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).

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 IMP,IEA 24740569
GO:0004383 guanylate cyclase activity IBA --
GO:0005524 ATP binding IEA --
GO:0008179 adenylate cyclase binding ISS --
GO:0016829 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:

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
cytosol 3
mitochondrion 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for ADCY5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS,IEA --
GO:0005929 cilium ISS --
GO:0008074 guanylate cyclase complex, soluble IBA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with ADCY5: view

Pathways & Interactions for ADCY5 Gene

SuperPathways for ADCY5 Gene

SuperPathway Contained pathways
1 DAG and IP3 signaling
2 RET signaling
3 Aquaporin-mediated transport
4 Vascular smooth muscle contraction
5 Circadian entrainment
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 IEA,IMP 24740569
GO:0006182 cGMP biosynthetic process IBA --
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, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phosphoric acid Approved Pharma 0
Pyruvic acid Approved, Investigational Nutra 0
2',5'-DIDEOXY-ADENOSINE 3'-MONOPHOSPHATE Experimental Pharma Target 0
Colforsin Experimental Pharma Target 3
cyclic amp Experimental Pharma 0

(2) Additional Compounds for ADCY5 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • (4-)Diphosphoric acid ion
  • (P2O74-)Diphosphate
  • Diphosphate
  • Diphosphoric acid
  • PPi
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

Drug Products

Transcripts for ADCY5 Gene

Unigene Clusters for ADCY5 Gene

Adenylate cyclase 5:
Representative Sequences:

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, PaxDb, 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
Organs:
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 34
  • 99.29 (n)
cow
(Bos Taurus)
Mammalia ADCY5 33 34
  • 92.53 (n)
dog
(Canis familiaris)
Mammalia ADCY5 33 34
  • 91.22 (n)
rat
(Rattus norvegicus)
Mammalia Adcy5 33
  • 89.51 (n)
mouse
(Mus musculus)
Mammalia Adcy5 33 16 34
  • 89.48 (n)
oppossum
(Monodelphis domestica)
Mammalia ADCY5 34
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 69 (a)
OneToMany
-- 34
  • 68 (a)
OneToMany
chicken
(Gallus gallus)
Aves ADCY5 34 33
  • 75.77 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ADCY5 34
  • 88 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii adcy5 33 34
  • 74.08 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG43373 33 34
  • 59.8 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002998 33
  • 59.17 (n)
worm
(Caenorhabditis elegans)
Secernentea acy-4 33
  • 49.31 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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)

Paralogs for ADCY5 Gene

Paralogs for ADCY5 Gene

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

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 Sequence Context AA Info Type
rs796065306 Pathogenic, Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703] 123,319,754(-) TTGAC(A/G)CCAGG reference, missense
rs864309483 Pathogenic, Dyskinesia, familial, with facial myokymia (FDFM) [MIM:606703] 123,352,464(-) AGGCG(C/T)GGCTC reference, missense, utr-variant-5-prime
rs757156390 Pathogenic 123,332,657(+) CCCTC(A/C/G)ATGTC reference, synonymous-codon
rs797045002 Pathogenic 123,325,321(-) GGATG(A/G/T)TGAGT splice-donor-variant
rs864309484 Pathogenic 123,291,354(-) GGAGA(A/T)GGAGG reference, missense

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

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

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)

Relevant External Links for ADCY5 Gene

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

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, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
dyskinesia, familial, with facial myokymia
  • familial dyskinesia and facial myokymia
adcy5-related dyskinesia
  • dyskinesia, familial, with facial myokymia
chorea, hereditary benign
  • benign hereditary chorea
early-onset generalized dystonia
  • dystonia musculorum deformans
alternating hemiplegia of childhood
  • ahc
- 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.

Relevant External Links for ADCY5

Genetic Association Database (GAD)
ADCY5
Human Genome Epidemiology (HuGE) Navigator
ADCY5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ADCY5
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 60
  2. ADCY5 couples glucose to insulin secretion in human islets. (PMID: 24740569) Hodson DJ … Rutter GA (Diabetes 2014) 3 4 60
  3. Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia. (PMID: 24700542) Chen YZ … Torkamani A (Annals of neurology 2014) 3 4 60
  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 45 60
  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 45 60

Products for ADCY5 Gene

Sources for ADCY5 Gene

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