PDE4D gene homepage

General information
Gene symbol PDE4D
Gene name phosphodiesterase 4D, cAMP-specific
Chromosome 5
Chromosomal band q12
Imprinted Unknown
Genomic reference NG_027957.1
Transcript reference NM_001165899.1
Exon/intron information NM_001165899.1 exon/intron table
Associated with diseases ACRDYS-2, STRK-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Guiomar Perez de Nanclares, Francesca Marta Elli and Giovanna Mantovani
Total number of public variants reported 50
Unique public DNA variants reported 41
Individuals with public variants 43
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 29, 2010
Date last updated October 04, 2017
Version PDE4D:171004

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001165899.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL http://www.LOVD.nl/PDE4D
External URL Orphanet
HGNC 8783
Entrez Gene 5144
PubMed articles PDE4D
OMIM - Gene 600129
OMIM - Diseases ACRDYS-2 (acrodysostosis, with/without hormone resistance, type 2 (ACRDYS-2))
STRK-1 (stroke, susceptibility to, type 1 (STRK-1))
GeneCards PDE4D
GeneTests PDE4D

Active transcripts




NCBI ID     

NCBI Protein ID     

00024128 5 transcript variant 3 NM_001165899.1 NP_001159371.1 50

Copyright & disclaimer
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