Gene: PDE4D

Alternate names for this Gene: ACRDYS2|DPDE3|HSPDE4D|PDE43|PDE4DN2|STRK1

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q11.2-q12.1

Description of this Gene: phosphodiesterase 4D

Type of Gene: protein-coding

rs397514464 in PDE4D gene and ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE PMID 22464250 2012 Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

PMID 23043190 2012 PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.

PMID 23033274 2013 Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis.

PMID 22464252 2012 Exome sequencing identifies PDE4D mutations in acrodysostosis.

rs10052657 in PDE4D gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs298088 in PDE4D gene and Age at menarche PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1544791 in PDE4D gene and Asthma PMID 19426955 2009 Genome-wide association analysis identifies PDE4D as an asthma-susceptibility gene.

PMID 20698975 2010 Asthma-susceptibility variants identified using probands in case-control and family-based analyses.

PMID 21907864 2011 Identification of IL6R and chromosome 11q13.5 as risk loci for asthma.

rs10940642 in PDE4D gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1353747 in PDE4D gene and Breast Carcinoma PMID 29059683 2017 Association analysis identifies 65 new breast cancer risk loci.

PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

PMID 25751625 2015 Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer.

rs6865647 in PDE4D gene and Chronic Kidney Diseases PMID 21931561 2011 Genetic association for renal traits among participants of African ancestry reveals new loci for renal function.

rs17444059 in PDE4D gene and Cytokine Measurement PMID 22610502 2012 Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.

rs10052657 in PDE4D gene and Esophageal Neoplasms PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.

PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.

rs34426618 in PDE4D gene and Intelligence PMID 29942086 2018 Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.

PMID 29844566 2018 Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.

PMID 29326435 2019 A combined analysis of genetically correlated traits identifies 187 loci and a role for neurogenesis and myelination in intelligence.

rs10514871 in PDE4D gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs1353747 in PDE4D gene and Malignant neoplasm of breast PMID 23535729 2013 Large-scale genotyping identifies 41 new loci associated with breast cancer risk.

rs10052657 in PDE4D gene and Malignant neoplasm of esophagus PMID 21642993 2011 Genome-wide association study identifies three new susceptibility loci for esophageal squamous-cell carcinoma in Chinese populations.

rs4235479 in PDE4D gene and Oral Ulcer PMID 30837455 2019 Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci.

rs10052657 in PDE4D gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs7732249 in PDE4D gene and Schizophrenia PMID 21926974 2011 Genome-wide association study identifies five new schizophrenia loci.

rs12515974 in PDE4D gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs10052657 in PDE4D gene and Squamous cell carcinoma of esophagus PMID 25129146 2014 Joint analysis of three genome-wide association studies of esophageal squamous cell carcinoma in Chinese populations.

rs35335033 in PDE4D gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.