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    PDE11A phosphodiesterase 11A [ Homo sapiens (human) ]

    Gene ID: 50940, updated on 28-Oct-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
    mouse all
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    Genomic context

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    See PDE11A in Genome Data Viewer
    Location:
    2q31.2
    Exon count:
    24
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (177623244..178108339, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (178105555..178591096, complement)
    RS_2024_09 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 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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    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
    		Compare labs

    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'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables 3',5'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    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 calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 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_2024_08

    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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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