Property Summary

NCBI Gene PubMed Count 45
Grant Count 22
R01 Count 2
Funding $10,925,144.67
PubMed Score 37.24
PubTator Score 49.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (7)

Disease log2 FC p
intraductal papillary-mucinous neoplasm ... 1.600 0.003
breast carcinoma -1.200 0.002
Breast cancer -1.100 0.000
ductal carcinoma in situ -1.600 0.001
invasive ductal carcinoma -1.900 0.002
pituitary cancer -1.700 0.000
psoriasis -1.100 0.000

Gene RIF (34)

PMID Text
26820475 One percent of the Swedish population carries a PDE11A loss-of-function mutation which is associated with elevated BP, abdominal obesity, and risk of ischemic stroke.
26459559 Testicular germ cell tumors had 55 PDE11A variants: 20 missense (10 new, 9 in transcript variant 4, 1 in transcript variant 3), 4 splice-site, 2 nonsense, 7 synonymous, and 22 intronic. p.F258Y, p.G291R, p.V820M, p.R545X, and p.K568R were only in cases.
22996146 PDE11A genetic variants may increase predisposition to ACTH-independent macronodular adrenal hyperplasia.
21697861 found in single nerve trunks in the clitoral stroma
21047926 We demonstrate, in a large cohort of Carney Complex patients, a high frequency of PDE11A variants, suggesting that PDE11A is a genetic modifying factor for the development of testicular and adrenal tumors in patients with germline PRKAR1A mutation.
21047926 Observational study of gene-disease association. (HuGE Navigator)
20920776 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20920776 PDE11A SNP assocaited with allergic asthma.
20881257 Our data suggest that, like in the adrenal cortex and the testicular germ cells, PDE11A-inactivating genetic alterations may play a role in susceptibility to prostate cancer
20881257 Observational study of gene-disease association. (HuGE Navigator)
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AA Sequence

MAASRLDFGEVETFLDRHPELFEDYLMRKGKQEMVEKWLQRHSQGQGALGPRPSLAGTSSLAHSTCRGGS      1 - 70
SVGGGTGPNGSAHSQPLPGGGDCGGVPLSPSWAGGSRGDGNLQRRASQKELRKSFARSKAIHVNRTYDEQ     71 - 140
VTSRAQEPLSSVRRRALLRKASSLPPTTAHILSALLESRVNLPRYPPTAIDYKCHLKKHNERQFFLELVK    141 - 210
DISNDLDLTSLSYKILIFVCLMVDADRCSLFLVEGAAAGKKTLVSKFFDVHAGTPLLPCSSTENSNEVQV    211 - 280
PWGKGIIGYVGEHGETVNIPDAYQDRRFNDEIDKLTGYKTKSLLCMPIRSSDGEIIGVAQAINKIPEGAP    281 - 350
FTEDDEKVMQMYLPFCGIAISNAQLFAASRKEYERSRALLEVVNDLFEEQTDLEKIVKKIMHRAQTLLKC    351 - 420
ERCSVLLLEDIESPVVKFTKSFELMSPKCSADAENSFKESMEKSSYSDWLINNSIAELVASTGLPVNISD    421 - 490
AYQDPRFDAEADQISGFHIRSVLCVPIWNSNHQIIGVAQVLNRLDGKPFDDADQRLFEAFVIFCGLGINN    491 - 560
TIMYDQVKKSWAKQSVALDVLSYHATCSKAEVDKFKAANIPLVSELAIDDIHFDDFSLDVDAMITAALRM    561 - 630
FMELGMVQKFKIDYETLCRWLLTVRKNYRMVLYHNWRHAFNVCQLMFAMLTTAGFQDILTEVEILAVIVG    631 - 700
CLCHDLDHRGTNNAFQAKSGSALAQLYGTSATLEHHHFNHAVMILQSEGHNIFANLSSKEYSDLMQLLKQ    701 - 770
SILATDLTLYFERRTEFFELVSKGEYDWNIKNHRDIFRSMLMTACDLGAVTKPWEISRQVAELVTSEFFE    771 - 840
QGDRERLELKLTPSAIFDRNRKDELPRLQLEWIDSICMPLYQALVKVNVKLKPMLDSVATNRSKWEELHQ    841 - 910
KRLLASTASSSPASVMVAKEDRN                                                   911 - 933
//

Text Mined References (46)

PMID Year Title
26820475 2016 A stop-codon of the phosphodiesterase 11A gene is associated with elevated blood pressure and measures of obesity.
26459559 2015 Rare inactivating PDE11A variants associated with testicular germ cell tumors.
23583979 2013 Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
22996146 2012 Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors.
21697861 Expression and distribution of key enzymes of the cyclic GMP signaling in the human clitoris: relation to phosphodiesterase type 5 (PDE5).
21047926 2011 Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype.
20920776 2010 PDE11A associations with asthma: results of a genome-wide association scan.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20881257 2011 Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
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