PDE4D phosphodiesterase 4D
Gene ID: 5144, updated on 10-Dec-2024Gene type: protein coding
Also known as: DPDE3; PDE43; STRK1; ACRDYS2; HSPDE4D; PDE4DN2
- See all available tests in GTR for this gene
- Go to complete Gene record for PDE4D
- Go to Variation Viewer for PDE4D variants
Summary
This gene encodes one of four mammalian counterparts to the fruit fly 'dunce' gene. The encoded protein has 3',5'-cyclic-AMP phosphodiesterase activity and degrades cAMP, which acts as a signal transduction molecule in multiple cell types. This gene uses different promoters to generate multiple alternatively spliced transcript variants that encode functional proteins.[provided by RefSeq, Sep 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A whole genome association study of neuroticism using DNA pooling. GeneReviews: Not available | |
| Acrodysostosis 2 with or without hormone resistance | not available |
| Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients. GeneReviews: Not available | |
| Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene. GeneReviews: Not available | |
| Genome-wide association of sleep and circadian phenotypes. GeneReviews: Not available | |
| Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations. GeneReviews: Not available | |
| Genome-wide association study of chemotherapeutic agent-induced severe neutropenia/leucopenia for patients in Biobank Japan. GeneReviews: Not available | |
| Genome-wide association study of patient-rated and clinician-rated global impression of severity during antipsychotic treatment. GeneReviews: Not available | |
| Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations. GeneReviews: Not available | |
| Large-scale genotyping identifies 41 new loci associated with breast cancer risk. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available |
Copy number response
| Description |
|---|
| Copy number response Haploinsufficency No evidence available (Last evaluated 2018-02-02) ClinGen Genome Curation PageTriplosensitivity No evidence available (Last evaluated 2018-02-02) ClinGen Genome Curation Page |
Genomic context
- Location:
- 5q11.2-q12.1
- Sequence:
- Chromosome: 5; NC_000005.10 (58969038..60522128, complement)
- Total number of exons:
- 42
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PDE4D variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PDE4D database
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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