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PDE11A phosphodiesterase 11A [ Homo sapiens (human) ]

Gene ID: 50940, updated on 11-Apr-2024

Summary

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Official Symbol
PDE11Aprovided by HGNC
Official Full Name
phosphodiesterase 11Aprovided by HGNC
Primary source
HGNC:HGNC:8773
See related
Ensembl:ENSG00000128655 MIM:604961; AllianceGenome:HGNC:8773
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
PPNAD2
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 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]
Expression
Biased expression in prostate (RPKM 3.1), fat (RPKM 1.5) and 11 other tissues See more
Orthologs
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Genomic context

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Location:
2q31.2
Exon count:
24
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (177623244..178108339, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (178105555..178591096, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (178487972..178973066, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC124906098 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16798 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16799 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:178522304-178522804 Neighboring gene intraflagellar transport 70A Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:178524216-178524860 Neighboring gene NANOG hESC enhancer GRCh37_chr2:178527523-178528025 Neighboring gene PDE11A antisense RNA 1 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:178596032-178596711 Neighboring gene Sharpr-MPRA regulatory region 15369 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16800 Neighboring gene NANOG hESC enhancer GRCh37_chr2:178662451-178663018 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr2:178695674-178696218 Neighboring gene Neanderthal introgressed variant-containing enhancer experimental_56479 Neighboring gene uncharacterized LOC124906099 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr2:178709260-178709994 Neighboring gene Sharpr-MPRA regulatory region 7527 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178837354-178838022 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr2:178838023-178838691 Neighboring gene apoptosis inhibitor 5 pseudogene 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:178914409-178914909 Neighboring gene RNA, U6 small nuclear 629, pseudogene Neighboring gene succinate dehydrogenase complex subunit D pseudogene 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 16801 Neighboring gene cytochrome c, testis, pseudogene Neighboring gene RNA, U5E small nuclear 9, pseudogene Neighboring gene RNA binding motif protein 45

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease. Qin W, et al. Hum Mol Genet, 2021 May 28. PMID 33835157, Free PMC Article
  2. PDE11A gene polymorphism in testicular cancer: sperm parameters and hormonal profile. Faja F, et al. J Endocrinol Invest, 2021 Oct. PMID 33661511, Free PMC Article
  3. A stop-codon of the phosphodiesterase 11A gene is associated with elevated blood pressure and measures of obesity. Ohlsson T, et al. J Hypertens, 2016 Mar. PMID 26820475
  4. Rare inactivating PDE11A variants associated with testicular germ cell tumors. Pathak A, et al. Endocr Relat Cancer, 2015 Dec. PMID 26459559, Free PMC Article
  5. 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. Vezzosi D, et al. J Clin Endocrinol Metab, 2012 Nov. PMID 22996146, Free PMC Article

See all (50) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.
    Title: Exome sequencing revealed PDE11A as a novel candidate gene for early-onset Alzheimer's disease.
  2. PDE11A gene polymorphism in testicular cancer: sperm parameters and hormonal profile.
    Title: PDE11A gene polymorphism in testicular cancer: sperm parameters and hormonal profile.
  3. 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.
    Title: A stop-codon of the phosphodiesterase 11A gene is associated with elevated blood pressure and measures of obesity.
  4. 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.
    Title: Rare inactivating PDE11A variants associated with testicular germ cell tumors.
  5. PDE11A genetic variants may increase predisposition to ACTH-independent macronodular adrenal hyperplasia.
    Title: 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.
  6. found in single nerve trunks in the clitoral stroma
    Title: Expression and distribution of key enzymes of the cyclic GMP signaling in the human clitoris: relation to phosphodiesterase type 5 (PDE5).
  7. 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
    Title: Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer.
  8. 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.
    Title: 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.
  9. Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
    Title: PDE11A associations with asthma: results of a genome-wide association scan.
  10. PDE11A SNP assocaited with allergic asthma.
    Title: PDE11A associations with asthma: results of a genome-wide association scan.
Submit: New GeneRIF Correction See all GeneRIFs (25)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description Tests
Pigmented nodular adrenocortical disease, primary, 2
MedGen: C1864851 OMIM: 610475 GeneReviews: Not available
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EBI GWAS Catalog

Description
Hundreds of variants clustered in genomic loci and biological pathways affect human height.
EBI GWAS Catalog
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Clone Names

  • FLJ23693, MGC133355, MGC133356

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables 3',5'-cyclic-AMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3',5'-cyclic-GMP phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables 3',5'-cyclic-nucleotide phosphodiesterase activity TAS
Traceable Author Statement
more info
 PubMed 
enables cGMP binding IDA
Inferred from Direct Assay
more info
 PubMed 
enables cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables cyclic-nucleotide phosphodiesterase activity NAS
Non-traceable Author Statement
more info
 PubMed 
enables metal ion binding IEA
Inferred from Electronic Annotation
more info
  
Process Evidence Code Pubs
involved_in cAMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in metabolic process IEA
Inferred from Electronic Annotation
more info
  
involved_in negative regulation of cAMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in negative regulation of cGMP-mediated signaling IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in signal transduction TAS
Traceable Author Statement
more info
 PubMed 
Component Evidence Code Pubs
is_active_in cellular_component ND
No biological Data available
more info
  
located_in cytosol TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A
Names
cAMP and cGMP cyclic nucleotide phosphodiesterase 11A
NP_001070664.1
NP_001070665.1
NP_001070826.1
NP_058649.3

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_012168.2 RefSeqGene

    Range
    40563..490096
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001077196.2 → NP_001070664.1  dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 1

    See identical proteins and their annotated locations for NP_001070664.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 4. The resulting isoform (1) has a shorter N-terminus, compared to isoform 4.
    Source sequence(s)
    AC073834, AC073892, AI919276, AJ251509
    Consensus CDS
    CCDS42786.1
    UniProtKB/Swiss-Prot
    Q9HCR9
    Related
    ENSP00000374333.3, ENST00000389683.7
    Conserved Domains (2) summary
    smart00065
    Location:27 → 124
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:219 → 454
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

  2. NM_001077197.2 → NP_001070665.1  dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) contains a distinct 5' UTR and 5' coding region, compared to variant 4. The resulting isoform (3) contains a shorter and distinct N-terminus, compared to isoform 4.
    Source sequence(s)
    AB038041, AC073834, AC073892, AI919276
    Consensus CDS
    CCDS42785.1
    UniProtKB/Swiss-Prot
    Q9HCR9
    Related
    ENSP00000351232.4, ENST00000358450.8
    Conserved Domains (2) summary
    smart00065
    Location:152 → 318
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:413 → 648
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

  3. NM_001077358.2 → NP_001070826.1  dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 2

    See identical proteins and their annotated locations for NP_001070826.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) contains a distinct 5' UTR and lacks an in-frame portion of the 5' coding region, compared to variant 4. The resulting isoform (2) has a shorter N-terminus, compared to isoform 4.
    Source sequence(s)
    AC073834, AF281865, BX105579
    Consensus CDS
    CCDS46459.1
    UniProtKB/Swiss-Prot
    Q9HCR9
    Related
    ENSP00000386539.1, ENST00000409504.5
    Conserved Domains (2) summary
    smart00065
    Location:44 → 210
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:305 → 540
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

  4. NM_016953.4 → NP_058649.3  dual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11A isoform 4

    See identical proteins and their annotated locations for NP_058649.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) represents the longest transcript and encodes the longest isoform (4).
    Source sequence(s)
    AB036704, AC011998, AC073834, AI919276, BC112393
    Consensus CDS
    CCDS33334.1
    UniProtKB/Swiss-Prot
    Q14CD1, Q53T16, Q96S76, Q9GZY7, Q9HB46, Q9HCR9, Q9NY45
    UniProtKB/TrEMBL
    E9LCZ2, E9LCZ3
    Related
    ENSP00000286063.5, ENST00000286063.11
    Conserved Domains (2) summary
    smart00065
    Location:217 → 380
    GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases
    pfam00233
    Location:663 → 898
    PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    177623244..178108339 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    178105555..178591096 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9HCR9.2 GenPept UniProtKB/Swiss-Prot:Q9HCR9

Gene LinkOut

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