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Aliases for PDE11A Gene

Aliases for PDE11A Gene

  • Phosphodiesterase 11A 2 3 5
  • EC 3.1.4.35 4 61
  • CAMP And CGMP Cyclic Nucleotide Phosphodiesterase 11A 3
  • Dual 3,5-Cyclic-AMP And -GMP Phosphodiesterase 11A 3
  • CAMP And CGMP Phosphodiesterase 11A 4
  • EC 3.1.4.53 4
  • EC 3.1.4 61
  • PPNAD2 3

External Ids for PDE11A Gene

Previous GeneCards Identifiers for PDE11A Gene

  • GC02M176555
  • GC02M177163
  • GC02M178455
  • GC02M178695
  • GC02M178318
  • GC02M178201
  • GC02M178487
  • GC02M170359

Summaries for PDE11A Gene

Entrez Gene Summary for PDE11A Gene

  • 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 and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a member of the PDE protein superfamily. Mutations in this gene are a cause of Cushing disease and adrenocortical hyperplasia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for PDE11A Gene

PDE11A (Phosphodiesterase 11A) is a Protein Coding gene. Diseases associated with PDE11A include Pigmented Nodular Adrenocortical Disease, Primary, 2 and Primary Pigmented Nodular Adrenocortical Disease. Among its related pathways are Signaling by GPCR and Purine metabolism (KEGG). GO annotations related to this gene include 3,5-cyclic-nucleotide phosphodiesterase activity and cGMP binding. An important paralog of this gene is PDE5A.

UniProtKB/Swiss-Prot for PDE11A Gene

  • Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5-AMP and 5-GMP, respectively.

Tocris Summary for PDE11A Gene

  • Phosphodiesterases (PDEs) are a family of phosphohydrolyases that catalyze the hydrolysis of 3' cyclic phosphate bonds in adenosine and/or guanine 3',5' cyclic monophosphate (cAMP and/or cGMP). PDEs regulate the second messengers by controlling their degradation.

Gene Wiki entry for PDE11A Gene

No data available for PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PDE11A Gene

Genomics for PDE11A Gene

Regulatory Elements for PDE11A Gene

Enhancers for PDE11A 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
GH02F177970 0.9 ENCODE 7.2 +137.2 137224 1.2 ELF3 ARID4B ZSCAN9 RAD21 RARA KAT2B SLC30A9 CREM MIXL1 EGR2 PDE11A GC02M177991 GC02M177473
GH02F177617 1.1 ENCODE 4.3 +489.6 489643 1.7 HDGF PKNOX1 ARNT CREB3L1 MLX WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ENSG00000271141 TTC30A PDE11A GC02M177488
GH02F177972 0.9 Ensembl 4.7 +135.1 135095 0.9 TBP HDAC1 PKNOX1 CBX3 ATF1 CREB3L1 NFRKB YY1 GATA2 SCRT2 PDE11A GC02M177991 GC02M177473
GH02F177997 0.5 ENCODE 8.2 +110.1 110058 1.8 JUND IKZF1 SIN3A PDE11A OSBPL6 RBM45 API5P2 GC02M177991
GH02F177852 0.6 ENCODE 5.2 +255.8 255771 0.2 OSR2 BCL11A GLIS1 PRDM10 ZIC2 ZNF843 WT1 TCF7L2 FOXA1 PDE11A GC02M177455 GC02M177532
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PDE11A on UCSC Golden Path with GeneCards custom track

Genomic Location for PDE11A Gene

Chromosome:
2
Start:
177,623,249 bp from pter
End:
178,108,339 bp from pter
Size:
485,091 bases
Orientation:
Minus strand

Genomic View for PDE11A Gene

Genes around PDE11A on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE11A Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE11A Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE11A Gene

Proteins for PDE11A Gene

  • Protein details for PDE11A Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HCR9-PDE11_HUMAN
    Recommended name:
    Dual 3,5-cyclic-AMP and -GMP phosphodiesterase 11A
    Protein Accession:
    Q9HCR9
    Secondary Accessions:
    • Q14CD1
    • Q53T16
    • Q96S76
    • Q9GZY7
    • Q9HB46
    • Q9NY45

    Protein attributes for PDE11A Gene

    Size:
    933 amino acids
    Molecular mass:
    104752 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PDE11A Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PDE11A Gene

Selected DME Specific Peptides for PDE11A Gene

Q9HCR9:
  • HDLDHRG
  • IFCGLGI

Post-translational modifications for PDE11A Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Domains & Families for PDE11A Gene

Gene Families for PDE11A Gene

Protein Domains for PDE11A Gene

Graphical View of Domain Structure for InterPro Entry

Q9HCR9

UniProtKB/Swiss-Prot:

PDE11_HUMAN :
  • The tandem GAF domains bind cGMP, and regulate enzyme activity. The binding of cGMP stimulates enzyme activity.
  • Belongs to the cyclic nucleotide phosphodiesterase family.
Domain:
  • The tandem GAF domains bind cGMP, and regulate enzyme activity. The binding of cGMP stimulates enzyme activity.
  • Contains 2 GAF domains.
Family:
  • Belongs to the cyclic nucleotide phosphodiesterase family.
genes like me logo Genes that share domains with PDE11A: view

Function for PDE11A Gene

Molecular function for PDE11A Gene

UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=3.0 uM for cAMP (isoform 1) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; KM=1.4 uM for cGMP (isoform 1) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; KM=3.0 uM for cAMP (isoform 2) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; KM=1.5 uM for cGMP (isoform 2) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; KM=3.3 uM for cAMP (isoform 3) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; KM=3.7 uM for cGMP (isoform 3) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; KM=1.04 uM for cAMP (isoform 4) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; KM=0.52 uM for cGMP (isoform 4) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; Vmax=3.6 pmol/min/ug enzyme with cAMP as substrate (isoform 4) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; Vmax=3.9 pmol/min/ug enzyme with cGMP as substrate (isoform 4) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; Vmax=270 pmol/min/ug enzyme with cAMP as substrate (isoform 1) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148}; Vmax=120 pmol/min/ug enzyme with cGMP as substrate (isoform 1) {ECO:0000269 PubMed:10725373, ECO:0000269 PubMed:10906126, ECO:0000269 PubMed:11050148};
UniProtKB/Swiss-Prot CatalyticActivity:
Guanosine 3,5-cyclic phosphate + H(2)O = guanosine 5-phosphate.
UniProtKB/Swiss-Prot CatalyticActivity:
Adenosine 3,5-cyclic phosphate + H(2)O = adenosine 5-phosphate.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by 3-isobutyl-1-methylxanthine (IBMX), zaprinast and dipyridamole. cGMP acts as an allosteric activator. Weakly inhibited by Sildenafil (Viagra) and Tadalafil (Cialis); however, the fact that the protein is probably absent from testis, suggests that it is not biologically relevant and is not related with erectile dysfunction.
UniProtKB/Swiss-Prot Function:
Plays a role in signal transduction by regulating the intracellular concentration of cyclic nucleotides cAMP and cGMP. Catalyzes the hydrolysis of both cAMP and cGMP to 5-AMP and 5-GMP, respectively.

Enzyme Numbers (IUBMB) for PDE11A Gene

Gene Ontology (GO) - Molecular Function for PDE11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004112 cyclic-nucleotide phosphodiesterase activity NAS 10906126
GO:0004114 3,5-cyclic-nucleotide phosphodiesterase activity IEA,TAS 10725373
GO:0004115 3,5-cyclic-AMP phosphodiesterase activity TAS --
GO:0004118 cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IDA 19689430
GO:0008081 phosphoric diester hydrolase activity IEA --
genes like me logo Genes that share ontologies with PDE11A: view
genes like me logo Genes that share phenotypes with PDE11A: view

Human Phenotype Ontology for PDE11A Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PDE11A Gene

MGI Knock Outs for PDE11A:

Animal Model Products

  • Taconic Biosciences Mouse Models for PDE11A

Flow Cytometry Products

No data available for Transcription Factor Targets and HOMER Transcription for PDE11A Gene

Localization for PDE11A Gene

Subcellular locations from UniProtKB/Swiss-Prot for PDE11A Gene

Cytoplasm, cytosol.

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 PDE11A gene
Compartment Confidence
cytosol 5
plasma membrane 3
mitochondrion 1
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for PDE11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with PDE11A: view

Pathways & Interactions for PDE11A Gene

genes like me logo Genes that share pathways with PDE11A: view

Pathways by source for PDE11A Gene

Gene Ontology (GO) - Biological Process for PDE11A Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006198 cAMP catabolic process IEA --
GO:0007165 signal transduction IEA --
GO:0008152 metabolic process IEA --
GO:0046069 cGMP catabolic process IEA --
genes like me logo Genes that share ontologies with PDE11A: view

No data available for SIGNOR curated interactions for PDE11A Gene

Drugs & Compounds for PDE11A Gene

(19) Drugs for PDE11A Gene - From: DrugBank, ApexBio, DGIdb, FDA Approved Drugs, HMDB, Tocris, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Tadalafil Approved, Investigational Pharma inhibitor, Target PDE5 inhibitor 149
Caffeine Approved Nutra Antagonist, Target, inhibitor, competitive A1 and A2B antagonist. CNS stimulant 380
Adcirca Approved May 2009 Pharma 0
Cafcit Injection Approved September 1999 Pharma 0
Sildenafil Approved, Investigational Pharma Inhibition, Inhibitor PDE5 inhibitor, selective 0

(1) Additional Compounds for PDE11A Gene - From: Tocris

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
IBMX
Antagonist 28822-58-4

(5) Tocris Compounds for PDE11A Gene

Compound Action Cas Number
(R)-(-)-Rolipram PDE4 inhibitor. More active enantiomer of rolipram (Cat. No. 0905) 85416-75-7
IBMX PDE inhibitor (non-selective) 28822-58-4
MDL 12330A hydrochloride Adenylyl cyclase inhibitor; also cyclic nucleotide PDE inhibitor 40297-09-4
Rolipram PDE4 inhibitor 61413-54-5
Sildenafil citrate Orally active, potent PDE5 inhibitor 171599-83-0

(1) ApexBio Compounds for PDE11A Gene

Compound Action Cas Number
BC 11-38 Selective PDE11 inhibitor 686770-80-9
genes like me logo Genes that share compounds with PDE11A: view

Transcripts for PDE11A Gene

mRNA/cDNA for PDE11A Gene

Unigene Clusters for PDE11A Gene

Phosphodiesterase 11A:
Representative Sequences:

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDE11A Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21a · 21b ^ 22 ^ 23 ^ 24a · 24b
SP1: - - - -
SP2: - - -
SP3:
SP4: -

Relevant External Links for PDE11A Gene

GeneLoc Exon Structure for
PDE11A
ECgene alternative splicing isoforms for
PDE11A

Expression for PDE11A Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDE11A Gene

mRNA differential expression in normal tissues according to GTEx for PDE11A Gene

This gene is overexpressed in Prostate (x9.1), Muscle - Skeletal (x8.8), Liver (x4.6), and Testis (x4.1).

Protein differential expression in normal tissues from HIPED for PDE11A Gene

This gene is overexpressed in Prostate (39.4) and Retina (29.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for PDE11A Gene



Protein tissue co-expression partners for PDE11A Gene

NURSA nuclear receptor signaling pathways regulating expression of PDE11A Gene:

PDE11A

SOURCE GeneReport for Unigene cluster for PDE11A Gene:

Hs.570273

mRNA Expression by UniProt/SwissProt for PDE11A Gene:

Q9HCR9-PDE11_HUMAN
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 testis. Isoform 4 is expressed in adrenal cortex.
genes like me logo Genes that share expression patterns with PDE11A: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery for PDE11A Gene

Orthologs for PDE11A Gene

This gene was present in the common ancestor of animals.

Orthologs for PDE11A Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDE11A 35
  • 100 (a)
OneToOne
dog
(Canis familiaris)
Mammalia PDE11A 34 35
  • 93.13 (n)
cow
(Bos Taurus)
Mammalia PDE11A 34 35
  • 91.06 (n)
rat
(Rattus norvegicus)
Mammalia Pde11a 34
  • 88.97 (n)
mouse
(Mus musculus)
Mammalia Pde11a 34 16 35
  • 88.63 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDE11A 35
  • 84 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia PDE11A 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDE11A 34 35
  • 82.56 (n)
lizard
(Anolis carolinensis)
Reptilia PDE11A 35
  • 87 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde11a 34
  • 78.16 (n)
zebrafish
(Danio rerio)
Actinopterygii pde11a 34 35
  • 74.02 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004119 34
  • 54.32 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pde6 34
  • 52.21 (n)
CG10231 36
  • 46 (a)
CG8279 36
  • 43 (a)
Pde11 35
  • 27 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea C32E12.2 36
  • 40 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
OneToOne
Species where no ortholog for PDE11A 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)
  • wheat (Triticum aestivum)

Evolution for PDE11A Gene

ENSEMBL:
Gene Tree for PDE11A (if available)
TreeFam:
Gene Tree for PDE11A (if available)

Paralogs for PDE11A Gene

Paralogs for PDE11A Gene

genes like me logo Genes that share paralogs with PDE11A: view

Variants for PDE11A Gene

Sequence variations from dbSNP and Humsavar for PDE11A Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs76308115 Pathogenic 178,014,454(-) ATCGA(C/T)GATTC reference, stop-gained
rs529789124 Uncertain significance 178,072,267(+) CTGGT(-/A)CCAGC intron-variant, reference, frameshift-variant
rs1004541 -- 177,702,498(+) TTCGA(C/T)ATTGA intron-variant, nc-transcript-variant
rs1004542 -- 177,702,721(+) CCCAA(C/T)ATGTG intron-variant, nc-transcript-variant
rs10164794 -- 177,933,246(+) ggcca(C/T)attgc intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PDE11A Gene

Variant ID Type Subtype PubMed ID
dgv7179n54 CNV loss 21841781
dgv7178n54 CNV loss 21841781
dgv7177n54 CNV gain 21841781
dgv7176n54 CNV gain 21841781
dgv678n67 CNV loss 20364138
dgv4110n100 CNV gain 25217958
dgv4109n100 CNV gain 25217958
dgv2100n106 CNV tandem duplication 24896259
dgv1189e212 CNV loss 25503493
nsv961915 CNV duplication 23825009
nsv954436 CNV deletion 24416366
nsv819130 CNV gain 19587683
nsv583739 CNV loss 21841781
nsv583738 CNV loss 21841781
nsv583737 CNV loss 21841781
nsv583736 CNV loss 21841781
nsv583704 CNV loss 21841781
nsv583696 CNV gain+loss 21841781
nsv583691 CNV loss 21841781
nsv583690 CNV loss 21841781
nsv583689 CNV loss 21841781
nsv583688 CNV loss 21841781
nsv528219 CNV gain 19592680
nsv525762 CNV loss 19592680
nsv521228 CNV loss 19592680
nsv518790 CNV gain 19592680
nsv511190 CNV loss 21212237
nsv473408 CNV novel sequence insertion 20440878
nsv3055 CNV deletion 18451855
nsv3053 CNV deletion 18451855
nsv3052 CNV insertion 18451855
nsv215311 CNV deletion 16902084
nsv213683 CNV insertion 16902084
nsv213289 CNV deletion 16902084
nsv1136444 CNV deletion 24896259
nsv1125708 CNV tandem duplication 24896259
nsv1123412 CNV deletion 24896259
nsv1120126 OTHER inversion 24896259
esv7012 CNV gain 19470904
esv3893508 CNV loss 25118596
esv3593482 CNV loss 21293372
esv3593481 CNV loss 21293372
esv3593480 CNV loss 21293372
esv3593479 CNV loss 21293372
esv3593478 CNV loss 21293372
esv3593477 CNV loss 21293372
esv3593475 CNV gain 21293372
esv3593470 CNV gain 21293372
esv3593468 CNV gain 21293372
esv3593466 CNV gain 21293372
esv3584190 CNV loss 25503493
esv3575314 CNV gain 25503493
esv3560603 CNV deletion 23714750
esv3560601 CNV deletion 23714750
esv3433585 CNV insertion 20981092
esv3410455 CNV insertion 20981092
esv3400217 CNV insertion 20981092
esv3400061 CNV insertion 20981092
esv3388759 CNV insertion 20981092
esv3385160 CNV insertion 20981092
esv3358668 CNV insertion 20981092
esv3330491 CNV insertion 20981092
esv3326937 CNV insertion 20981092
esv3310036 CNV mobile element insertion 20981092
esv3308879 CNV mobile element insertion 20981092
esv3305541 CNV mobile element insertion 20981092
esv3305128 CNV mobile element insertion 20981092
esv3304424 CNV mobile element insertion 20981092
esv3303843 CNV mobile element insertion 20981092
esv2840569 CNV deletion 24192839
esv2762967 CNV gain 21179565
esv2762296 CNV loss 21179565
esv275124 CNV loss 21479260
esv27415 CNV loss 19812545
esv2721189 CNV deletion 23290073
esv2721188 CNV deletion 23290073
esv2721187 CNV deletion 23290073
esv2721186 CNV deletion 23290073
esv2721185 CNV deletion 23290073
esv2721183 CNV deletion 23290073
esv2721182 CNV deletion 23290073
esv2678243 CNV deletion 23128226
esv2667251 CNV deletion 23128226
esv2661066 CNV deletion 23128226
esv2606430 CNV insertion 19546169
esv24708 CNV loss 19812545
esv2465411 CNV insertion 19546169
esv22087 CNV loss 19812545
esv21845 CNV loss 19812545
esv1970130 CNV deletion 18987734
esv1338881 CNV insertion 17803354
esv1296090 CNV deletion 17803354
esv1224166 CNV deletion 17803354
dgv94e180 CNV loss 20482838
dgv752e214 CNV loss 21293372
dgv7185n54 CNV loss 21841781
dgv7184n54 CNV loss 21841781
dgv7183n54 CNV loss 21841781
dgv7182n54 CNV loss 21841781
dgv7181n54 CNV loss 21841781
dgv7180n54 CNV loss 21841781

Variation tolerance for PDE11A Gene

Residual Variation Intolerance Score: 93.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.32; 76.64% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PDE11A Gene

Human Gene Mutation Database (HGMD)
PDE11A
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDE11A

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE11A Gene

Disorders for PDE11A Gene

MalaCards: The human disease database

(7) MalaCards diseases for PDE11A Gene - From: OMIM, ClinVar, GeneTests, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pigmented nodular adrenocortical disease, primary, 2
  • ppnad2, pigmented micronoduluar adrenocortical disease, primary, 2
primary pigmented nodular adrenocortical disease
  • ppnad
cushing's syndrome
  • cushing syndrome
carney complex variant
  • carney complex
acth-independent macronodular adrenal hyperplasia
  • acth-independent macronodular adrenal hyperplasia 2
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

PDE11_HUMAN
  • Primary pigmented nodular adrenocortical disease 2 (PPNAD2) [MIM:610475]: A rare bilateral adrenal defect causing ACTH-independent Cushing syndrome. Macroscopic appearance of the adrenals is characteristic with small pigmented micronodules observed in the cortex. Adrenal glands show overall normal size and weight, and multiple small yellow-to-dark brown nodules surrounded by a cortex with a uniform appearance. Microscopically, there are moderate diffuse cortical hyperplasia with mostly nonpigmented nodules, multiple capsular deficits and massive circumscribed and infiltrating extra-adrenal cortical excrescences with micronodules. Clinical manifestations of Cushing syndrome include facial and truncal obesity, abdominal striae, muscular weakness, osteoporosis, arterial hypertension, diabetes. {ECO:0000269 PubMed:16767104}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PDE11A

Genetic Association Database (GAD)
PDE11A
Human Genome Epidemiology (HuGE) Navigator
PDE11A
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PDE11A
genes like me logo Genes that share disorders with PDE11A: view

No data available for Genatlas for PDE11A Gene

Publications for PDE11A Gene

  1. Molecular cloning and characterization of a distinct human phosphodiesterase gene family: PDE11A. (PMID: 10725373) Fawcett L. … Phillips S.C. (Proc. Natl. Acad. Sci. U.S.A. 2000) 2 3 4 22 64
  2. Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. (PMID: 19549888) Horvath A. … Stratakis C.A. (Cancer Res. 2009) 3 22 46 64
  3. Analysis of genetic variants of phosphodiesterase 11A in acromegalic patients. (PMID: 19671705) Peverelli E. … Spada A. (Eur. J. Endocrinol. 2009) 3 22 46 64
  4. Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. (PMID: 18559625) LibAc R. … Bertherat J. (Clin. Cancer Res. 2008) 3 22 46 64
  5. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. (PMID: 17178847) Horvath A. … Stratakis C.A. (Cancer Res. 2006) 3 22 46 64

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