Gene Gene information from NCBI Gene database.
Entrez ID 50940
Gene name Phosphodiesterase 11A
Gene symbol PDE11A
Synonyms (NCBI Gene)
PPNAD2
Chromosome 2
Chromosome location 2q31.2
Summary The 3`,5`-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3`,5`-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5`-monophosphates a
SNPs SNP information provided by dbSNP.
8
SNP ID Visualize variation Clinical significance Consequence
rs76308115 G>A Pathogenic, likely-benign Coding sequence variant, stop gained, genic upstream transcript variant
rs77972073 C>A,G Conflicting-interpretations-of-pathogenicity Coding sequence variant, intron variant, genic upstream transcript variant, missense variant
rs188985665 G>A Likely-pathogenic Genic upstream transcript variant, stop gained, coding sequence variant
rs202117698 CT>- Likely-pathogenic Coding sequence variant, frameshift variant, genic upstream transcript variant
rs756967751 T>- Likely-pathogenic Genic upstream transcript variant, coding sequence variant, intron variant, frameshift variant
miRNA miRNA information provided by mirtarbase database.
596
miRTarBase ID miRNA Experiments Reference
MIRT029552 hsa-miR-26b-5p Microarray 19088304
MIRT672367 hsa-miR-383-3p HITS-CLIP 23824327
MIRT677447 hsa-miR-1827 HITS-CLIP 23824327
MIRT677446 hsa-miR-3612 HITS-CLIP 23824327
MIRT677445 hsa-miR-650 HITS-CLIP 23824327
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
GO ID Ontology Definition Evidence Reference
GO:0003824 Function Catalytic activity IEA
GO:0004112 Function Cyclic-nucleotide phosphodiesterase activity NAS 10906126
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity IEA
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity TAS 10725373
GO:0004115 Function 3',5'-cyclic-AMP phosphodiesterase activity IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604961 8773 ENSG00000128655
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9HCR9
Protein name Dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A (EC 3.1.4.35) (EC 3.1.4.53) (cAMP and cGMP phosphodiesterase 11A)
Protein function Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP (PubMed:10725373, PubMed:10906126, PubMed:11050148, PubMed:16330539). Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01590 GAF 217 370 GAF domain Domain
PF01590 GAF 402 558 GAF domain Domain
PF00233 PDEase_I 663 899 Domain
Tissue specificity TISSUE SPECIFICITY: Isoform 1 is present in prostate, pituitary, heart and liver. It is however not present in testis nor in penis, suggesting that weak inhibition by Tadalafil (Cialis) is not relevant (at protein level). Isoform 2 may be expressed in tes
Sequence
MAASRLDFGEVETFLDRHPELFEDYLMRKGKQEMVEKWLQRHSQGQGALGPRPSLAGTSS
LAHSTCRGGSSVGGGTGPNGSAHSQPLPGGGDCGGVPLSPSWAGGSRGDGNLQRRASQKE
LRKSFARSKAIHVNRTYDEQVTSRAQEPLSSVRRRALLRKASSLPPTTAHILSALLESRV
NLPRYPPTAIDYKCHLKKHNERQFFLELVKDISNDLDLTSLSYKILIFVCLMVDADRCSL
FLVEGAAAGKKTLVSKFFDVHAGTPLLPCSSTENSNEVQVPWGKGIIGYVGEHGETVNIP
DAYQDRRFNDEIDKLTGYKTKSLLCMPIRSSDGEIIGVAQAINKIPEGAPFTEDDEKVMQ
MYLPFCGIAI
SNAQLFAASRKEYERSRALLEVVNDLFEEQTDLEKIVKKIMHRAQTLLKC
ERCSVLLLEDIESPVVKFTKSFELMSPKCSADAENSFKESMEKSSYSDWLINNSIAELVA
STGLPVNISDAYQDPRFDAEADQISGFHIRSVLCVPIWNSNHQIIGVAQVLNRLDGKPFD
DADQRLFEAFVIFCGLGI
NNTIMYDQVKKSWAKQSVALDVLSYHATCSKAEVDKFKAANI
PLVSELAIDDIHFDDFSLDVDAMITAALRMFMELGMVQKFKIDYETLCRWLLTVRKNYRM
VLYHNWRHAFNVCQLMFAMLTTAGFQDILTEVEILAVIVGCLCHDLDHRGTNNAFQAKSG
SALAQLYGTSATLEHHHFNHAVMILQSEGHNIFANLSSKEYSDLMQLLKQSILATDLTLY
FERRTEFFELVSKGEYDWNIKNHRDIFRSMLMTACDLGAVTKPWEISRQVAELVTSEFFE
QGDRERLELKLTPSAIFDRNRKDELPRLQLEWIDSICMPLYQALVKVNVKLKPMLDSVA
T
NRSKWEELHQKRLLASTASSSPASVMVAKEDRN
Sequence length 933
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Purine metabolism
Metabolic pathways
Cushing syndrome
Morphine addiction
  cGMP effects
G alpha (s) signalling events
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
80
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Pigmented nodular adrenocortical disease, primary, 2 Likely pathogenic; Pathogenic rs2105727398, rs2105581875, rs1574084195, rs769235876, rs771254375, rs769095538 RCV001782587
RCV001782588
RCV001809212
RCV000490402
RCV000490291
RCV003135609
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Benign rs13012088 RCV005937279
Bardet-Biedl syndrome 16 Conflicting classifications of pathogenicity rs529789124 RCV001258305
Cholangiocarcinoma Benign rs13012088, rs71423514 RCV005937282
RCV005937312
Malignant lymphoma, large B-cell, diffuse Benign rs13012088 RCV005937280
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acth Independent Macronodular Adrenal Hyperplasia Associate 18559625, 19509103, 22996146
Adenoma Associate 29183089
Adrenal Cortex Neoplasms Associate 18559625
Adrenal Gland Neoplasms Associate 19429701, 19522821, 19549888, 22996146
Adrenocortical Adenoma Associate 18559625
Adrenocortical Carcinoma Associate 18491255, 18559625, 20351491, 22996146, 26459559, 35929507
Alzheimer Disease Associate 33835157
Breast Neoplasms Associate 30947698
Carney Complex Associate 19522821, 21047926
Cicatrix Hypertrophic Associate 30320389