PDE4D gene

phosphodiesterase 4D

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.

From NCBI Gene:

  • Stroke 1
  • Acrodysostosis 2, with or without hormone resistance

From UniProt:

Genetic variations in PDE4D might be associated with susceptibility to stroke. PubMed:17006457 states that association with stroke has to be considered with caution.

Acrodysostosis 2, with or without hormone resistance (ACRDYS2): A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems. [MIM:614613]

Cytogenetic Location: 5q11.2-q12.1, which is the long (q) arm of chromosome 5 between positions 11.2 and 12.1

Molecular Location: base pairs 58,969,038 to 60,488,098 on chromosome 5 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 5q11.2-q12.1, which is the long (q) arm of chromosome 5 between positions 11.2 and 12.1
  • ACRDYS2
  • DPDE3
  • HSPDE4D
  • PDE4DN2
  • PDE43
  • STRK1