Property Summary

NCBI Gene PubMed Count 47
Grant Count 49
R01 Count 33
Funding $8,062,605.53
PubMed Score 225.94
PubTator Score 67.78

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (9)

Disease log2 FC p
posterior fossa group B ependymoma -1.600 0.000
glioblastoma -1.200 0.000
pediatric high grade glioma -1.200 0.000
atypical teratoid/rhabdoid tumor -1.200 0.000
group 3 medulloblastoma -1.300 0.011
pilocytic astrocytoma -1.100 0.000
ovarian cancer 1.400 0.000
pituitary cancer 1.700 0.000
psoriasis -1.100 0.000

Gene RIF (35)

PMID Text
27049325 Risk alleles for 6 loci increased glucose levels from birth to 5 years of age (ADCY5, ADRA2A, CDKAL1, CDKN2A/B, GRB10, and TCF7L2
26686870 This study showed that ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.(
26085604 Mutations in ADCY5 were linked to benign hereditary chorea.
26023182 these results suggest that AnxA4 is a novel direct negative regulator of AC5, adding a new facet to the functions of annexins.
25793868 changes in adipose tissue ADCY5 expression are related to obesity and fat distribution.
25545163 This study identification of ADCY5 mutations in one family with dyskinesia-facial myokymia and in two unrelated sporadic cases of paxoysmal choreic/dystonia-facial myokymia.
25049074 LRs are essential not only for the proper membrane distribution and maintenance of AC5/6 activity but also for the regulation of D1R- and D5R-mediated AC signaling.
24740569 Alterations in beta-cell ADCY5 expression and impaired glucose signaling thus provide a likely route through which ADCY5 gene polymorphisms influence fasting glucose levels and T2D risk, while exerting more minor effects on incretin action
24700542 the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cases of autosomal dominant familial dyskinesia with facial myokymia
23841650 AC5, by binding active Galphai1, interferes with G-protein deactivation and reassembly and thereby might sensitize its own regulation.
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AA Sequence

MSGSKSVSPPGYAAQKTAAPAPRGGPEHRSAWGEADSRANGYPHAPGGSARGSTKKPGGAVTPQQQQRLA      1 - 70
SRWRSDDDDDPPLSGDDPLAGGFGFSFRSKSAWQERGGDDCGRGSRRQRRGAASGGSTRAPPAGGGGGSA     71 - 140
AAAASAGGTEVRPRSVEVGLEERRGKGRAADELEAGAVEGGEGSGDGGSSADSGSGAGPGAVLSLGACCL    141 - 210
ALLQIFRSKKFPSDKLERLYQRYFFRLNQSSLTMLMAVLVLVCLVMLAFHAARPPLQLPYLAVLAAAVGV    211 - 280
ILIMAVLCNRAAFHQDHMGLACYALIAVVLAVQVVGLLLPQPRSASEGIWWTVFFIYTIYTLLPVRMRAA    281 - 350
VLSGVLLSALHLAIALRTNAQDQFLLKQLVSNVLIFSCTNIVGVCTHYPAEVSQRQAFQETRECIQARLH    351 - 420
SQRENQQQERLLLSVLPRHVAMEMKADINAKQEDMMFHKIYIQKHDNVSILFADIEGFTSLASQCTAQEL    421 - 490
VMTLNELFARFDKLAAENHCLRIKILGDCYYCVSGLPEARADHAHCCVEMGMDMIEAISLVREVTGVNVN    491 - 560
MRVGIHSGRVHCGVLGLRKWQFDVWSNDVTLANHMEAGGKAGRIHITKATLNYLNGDYEVEPGCGGERNA    561 - 630
YLKEHSIETFLILRCTQKRKEEKAMIAKMNRQRTNSIGHNPPHWGAERPFYNHLGGNQVSKEMKRMGFED    631 - 700
PKDKNAQESANPEDEVDEFLGRAIDARSIDRLRSEHVRKFLLTFREPDLEKKYSKQVDDRFGAYVACASL    701 - 770
VFLFICFVQITIVPHSIFMLSFYLTCSLLLTLVVFVSVIYSCVKLFPSPLQTLSRKIVRSKMNSTLVGVF    771 - 840
TITLVFLAAFVNMFTCNSRDLLGCLAQEHNISASQVNACHVAESAVNYSLGDEQGFCGSPWPNCNFPEYF    841 - 910
TYSVLLSLLACSVFLQISCIGKLVLMLAIELIYVLIVEVPGVTLFDNADLLVTANAIDFFNNGTSQCPEH    911 - 980
ATKVALKVVTPIIISVFVLALYLHAQQVESTARLDFLWKLQATEEKEEMEELQAYNRRLLHNILPKDVAA    981 - 1050
HFLARERRNDELYYQSCECVAVMFASIANFSEFYVELEANNEGVECLRLLNEIIADFDEIISEDRFRQLE   1051 - 1120
KIKTIGSTYMAASGLNDSTYDKVGKTHIKALADFAMKLMDQMKYINEHSFNNFQMKIGLNIGPVVAGVIG   1121 - 1190
ARKPQYDIWGNTVNVASRMDSTGVPDRIQVTTDMYQVLAANTYQLECRGVVKVKGKGEMMTYFLNGGPPL   1191 - 1260
S//

Text Mined References (48)

PMID Year Title
27049325 2016 Risk Alleles in/near ADCY5, ADRA2A, CDKAL1, CDKN2A/B, GRB10, and TCF7L2 Elevate Plasma Glucose Levels at Birth and in Early Childhood: Results from the FAMILY Study.
26686870 2016 ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias.
26206488 2015 Adenylyl Cyclase 5 Regulation by G?? Involves Isoform-Specific Use of Multiple Interaction Sites.
26085604 2015 ADCY5 mutations are another cause of benign hereditary chorea.
26023182 2015 Annexin A4 is a novel direct regulator of adenylyl cyclase type 5.
25793868 2015 ADCY5 gene expression in adipose tissue is related to obesity in men and mice.
25545163 2015 A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.
25049074 2014 Differential dopamine receptor subtype regulation of adenylyl cyclases in lipid rafts in human embryonic kidney and renal proximal tubule cells.
24740569 2014 ADCY5 couples glucose to insulin secretion in human islets.
24700542 2014 Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.
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