Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5144
Gene name Gene Name - the full gene name approved by the HGNC.
Phosphodiesterase 4D
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PDE4D
Synonyms (NCBI Gene) Gene synonyms aliases
ACRDYS2, DPDE3, HSPDE4D, PDE43, PDE4DN2, STRK1
Disease Acronyms (UniProt) Disease acronyms from UniProt database
ACRDYS2
Chromosome Chromosome number
5
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
5q11.2-q12.1
Summary Summary of gene provided in NCBI Entrez 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
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs387906744 T>G Pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
rs397514464 G>T Pathogenic Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs397514465 A>C,G Pathogenic Missense variant, genic upstream transcript variant, genic downstream transcript variant, coding sequence variant, 5 prime UTR variant
rs397514466 A>C Pathogenic Genic upstream transcript variant, coding sequence variant, missense variant, 5 prime UTR variant
rs397514467 T>G Pathogenic Genic downstream transcript variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT018254 hsa-miR-335-5p Microarray 18185580
MIRT019645 hsa-miR-340-5p Sequencing 20371350
MIRT025858 hsa-miR-7-5p Microarray 17612493
MIRT027087 hsa-miR-103a-3p Sequencing 20371350
MIRT031236 hsa-miR-19b-3p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002027 Process Regulation of heart rate ISS 16213210
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity IBA 21873635
GO:0004114 Function 3',5'-cyclic-nucleotide phosphodiesterase activity NAS 10913353
GO:0004115 Function 3',5'-cyclic-AMP phosphodiesterase activity IBA 21873635
GO:0004115 Function 3',5'-cyclic-AMP phosphodiesterase activity IDA 9371713, 17404263
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
600129 8783 ENSG00000113448
Protein
UniProt ID Q08499
Protein name 3',5'-cyclic-AMP phosphodiesterase 4D (EC 3.1.4.53) (DPDE3) (PDE43) (cAMP-specific phosphodiesterase 4D)
Protein function Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes.
PDB 1E9K , 1MKD , 1OYN , 1PTW , 1Q9M , 1TB7 , 1TBB , 1XOM , 1XON , 1XOQ , 1XOR , 1Y2B , 1Y2C , 1Y2D , 1Y2E , 1Y2K , 1ZKN , 2FM0 , 2FM5 , 2PW3 , 2QYN , 3G4G , 3G4I , 3G4K , 3G4L , 3G58 , 3IAD , 3IAK , 3K4S , 3SL3 , 3SL4 , 3SL5 , 3SL6 , 3SL8 , 3V9B , 4OGB , 4W1O , 4WCU , 5K1I , 5K32 , 5LBO , 5TKB , 5WH5 , 5WH6 , 5WQA , 6AKR , 6BOJ , 6F6U , 6F8R , 6F8T , 6F8U
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF18100 PDE4_UCR 223 339 Phosphodiesterase 4 upstream conserved regions (UCR) Domain
PF00233 PDEase_I 461 702 Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in colonic epithelial cells (at protein level). Widespread; most abundant in skeletal muscle. {ECO:0000269|PubMed:12834813, ECO:0000269|PubMed:17244609}.; TISSUE SPECIFICITY: [Isoform 6]: Detected in brain. {ECO:0000269|PubMe
Sequence
MEAEGSSAPARAGSGEGSDSAGGATLKAPKHLWRHEQHHQYPLRQPQFRLLHPHHHLPPP
PPPSPQPQPQCPLQPPPPPPLPPPPPPPGAARGRYASSGATGRVRHRGYSDTERYLYCRA
MDRTSYAVETGHRPGLKKSRMSWPSSFQGLRRFDVDNGTSAGRSPLDPMTSPGSGLILQA
NFVHSQRRESFLYRSDSDYDLSPKSMSRNSSIASDIHGDDLIVTPFAQVLASLRTVRNNF
AALTNLQDRAPSKRSPMCNQPSINKATITEEAYQKLASETLEELDWCLDQLETLQTRHSV
SEMASNKFKRMLNRELTHLSEMSRSGNQVSEFISNTFLD
KQHEVEIPSPTQKEKEKKKRP
MSQISGVKKLMHSSSLTNSSIPRFGVKTEQEDVLAKELEDVNKWGLHVFRIAELSGNRPL
TVIMHTIFQERDLLKTFKIPVDTLITYLMTLEDHYHADVAYHNNIHAADVVQSTHVLLST
PALEAVFTDLEILAAIFASAIHDVDHPGVSNQFLINTNSELALMYNDSSVLENHHLAVGF
KLLQEENCDIFQNLTKKQRQSLRKMVIDIVLATDMSKHMNLLADLKTMVETKKVTSSGVL
LLDNYSDRIQVLQNMVHCADLSNPTKPLQLYRQWTDRIMEEFFRQGDRERERGMEISPMC
DKHNASVEKSQVGFIDYIVHPLWETWADLVHPDAQDILDTLE
DNREWYQSTIPQSPSPAP
DDPEEGRQGQTEKFQFELTLEEDGESDTEKDSGSQVEEDTSCSDSKTLCTQDSESTEIPL
DEQVEEEAVGEEEESQPEACVIDDRSPDT
Sequence length 809
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  Purine metabolism
Metabolic pathways
cAMP signaling pathway
Parathyroid hormone synthesis, secretion and action
Morphine addiction
  DARPP-32 events
G alpha (s) signalling events
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Acrodysostosis with or without hormone resistance ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE, ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE rs387906692, rs387906694, rs387906695, rs397514464, rs397514465, rs397514466, rs397514467, rs397514468, rs387906744, rs397514469, rs397515433, rs587777188, rs886041228, rs1555815121, rs1600486197 23033274, 22464252, 22464250, 23043190
Autism Autistic Disorder rs121964908, rs62643608, rs181327458, rs797046134, rs869312704, rs1555013332, rs876657679, rs1057518999, rs1057518658, rs771827120, rs1555187899, rs773080572, rs753871454, rs1684130791, rs1684180699
View all (8 more)
Brachydactyly Brachydactyly rs121908949, rs28937580, rs121909082, rs104894122, rs863223289, rs863223290, rs104894121, rs1587657302, rs863223292, rs74315386, rs74315387, rs28936397, rs753691079, rs121909348, rs121917852
View all (22 more)
Breast cancer Malignant neoplasm of breast rs587776547, rs1137887, rs137853007, rs587776650, rs80359351, rs80359714, rs121917783, rs104886456, rs121964878, rs80359874, rs80357868, rs80357508, rs387906843, rs80357569, rs80358158
View all (309 more)
23535729
Unknown
Disease term Disease name Evidence References Source
Acrodysostosis Acrodysostosis, acrodysostosis 22464252, 22464250 ClinVar, GenCC
Asthma Asthma 19426955, 21907864, 21611147, 20698975 ClinVar, GWAS
Mental depression Mental Depression, Depressive disorder 12377395, 22487514, 23003922 ClinVar
Specific learning disorder Specific learning disability ClinVar
Associations from Text Mining
Disease Name Relationship Type References
Acrodysostosis Associate 22464250, 22464252, 25075981, 26763073, 28515031, 30006632, 31041856, 32783359, 33858404
Alport Syndrome Mental Retardation Midface Hypoplasia and Elliptocytosis Associate 30006632
Alzheimer Disease Associate 33157432
Arterial Occlusive Diseases Associate 28225001
Asthma Associate 19426955, 21876611
Asthma Inhibit 26181301
Atherosclerosis Associate 14517540, 20540798, 22045424, 23863764, 24485247, 28225001
Atrial Fibrillation Associate 34289528
Autism Spectrum Disorder Associate 37407249
Brachydactyly Associate 28515031