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UniProt ID
Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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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 |
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| 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 |
|
| Sequence length |
933 |
| Interactions |
View interactions |
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|
| 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 |
| Nonpapillary renal cell carcinoma |
Benign |
rs13012088 |
RCV005937278 |
| PDE11A-related disorder |
Uncertain significance; Conflicting classifications of pathogenicity; Benign; Likely benign |
rs753787322, rs138134819, rs529789124, rs1242466863, rs149795546, rs2468138045, rs148183964, rs13012088, rs71423514, rs745688146, rs117534006, rs201629965, rs78328794, rs1204600532, rs898117331, rs771860947, rs199620084, rs75672043, rs756967751, rs61745593, rs139784666, rs77934668, rs79400048, rs146436478, rs79233810, rs138427178, rs140538000, rs777448999, rs752359803 View all (14 more) |
RCV004755223 RCV003956356 RCV003937676 RCV003392825 RCV003919163 RCV003901990 RCV003916889 RCV003977373 RCV003984599 RCV003952211 RCV003929459 RCV003937013 RCV003956825 RCV003981841 RCV003964736 RCV003964767 RCV003971614 RCV003976540 RCV003409752 RCV003962866 RCV003906002 RCV003906054 RCV003957947 RCV003948310 RCV003930672 RCV003912837 RCV003950689 RCV003968244 RCV003978045 |
| See cases |
Conflicting classifications of pathogenicity |
rs76308115 |
RCV002251878 |
| Uterine carcinosarcoma |
Benign |
rs13012088, rs71423514 |
RCV005937281 RCV005937311 |
| Uterine corpus endometrial carcinoma |
Benign |
rs78328794 |
RCV005933307 |
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| 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 |
| COVID 19 |
Associate |
34185889 |
| Cushing Syndrome |
Associate |
18491255, 18559625, 20351491, 30568069, 35929507 |
| Endocrine Gland Neoplasms |
Associate |
21047926 |
| Epileptic Syndromes |
Associate |
20351491 |
| Glioblastoma |
Associate |
35929507 |
| Hyperplasia |
Associate |
18491255 |
| Infertility Male |
Associate |
19549888 |
| Neoplasms |
Associate |
33707600 |
| Neoplasms Germ Cell and Embryonal |
Associate |
33661511 |
| Neurofibrosarcoma |
Associate |
33707600 |
| Obesity |
Associate |
38027204 |
| Parkinson Disease |
Associate |
40240887 |
| Pigmented Nodular Adrenocortical Disease Primary 1 |
Associate |
18419788, 18491255, 18559625, 21047926, 30568069 |
| Pigmented Nodular Adrenocortical Disease Primary 2 |
Associate |
35929507 |
| Prostatic Neoplasms |
Associate |
20881257 |
| Schizophrenia |
Associate |
35929507 |
| Sertoli Cell Tumor |
Associate |
21047926 |
| Testicular Germ Cell Tumor |
Associate |
19549888, 23771924, 26459559, 33661511 |
| Testicular Neoplasms |
Associate |
20881257, 21047926, 26459559, 33661511 |
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