Gene Report

Basic information

Related studies

Functional annotation

Related other genetic factors

Overlap with SZ and MDD

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Basic Info

Approved Symbol	PDE4D
Previous Symbol	DPDE3
Approved Name	phosphodiesterase 4D, cAMP-specific
Previous Name	phosphodiesterase 4D, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E3)
Name Alias	phosphodiesterase E3 dunce homolog (Drosophila)
Location	5q12
Position	chr5:58969038-60522120, -1
External Links	HGNC: 8783 Entrez Gene: 5144 Ensembl: ENSG00000113448 UCSC: uc003jsa.3
No. of Studies	1 (Positive: 0; Negative: 1; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
McDonald, M. L.,2012	SNP: rs17741863	None of the association tests of the tagSNPs with either BPD I or BPD II reached genome-wide significance (P < 5E-08).	Negative	Comment on Study

Gene functional annotation

Gene related GO terms (count: 53)

GO terms by PBA (count: 4)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004114	3',5'-cyclic-nucleotide phosphodiesterase activity	molecular function	NAS[10913353]	3
GO:0043623	cellular protein complex assembly	biological process	IEA	1
GO:0016020	membrane	cellular component	IDA[9371713]; IDA[9371713]	137
GO:0005891	voltage-gated calcium channel complex	cellular component	ISS	13

GO terms by database search (count: 49)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0004115	3',5'-cyclic-AMP phosphodiesterase activity	molecular function	IDA[12121997]; IGI[8413254]	2
GO:0071872	cellular response to epinephrine stimulus	biological process	IDA[12121997]; IEA	3
GO:0097110	scaffold protein binding	molecular function	IPI[15182229]	5
GO:0048661	positive regulation of smooth muscle cell proliferation	biological process	IEA	11
GO:0030016	myofibril	cellular component	IEA	1
GO:0006939	smooth muscle contraction	biological process	IEA	7
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	biological process	ISS[16213210]	2
GO:0005515	protein binding	molecular function	IPI[20664520]	563
GO:0035264	multicellular organism growth	biological process	IEA	9
GO:0030324	lung development	biological process	IEA	9
GO:0071222	cellular response to lipopolysaccharide	biological process	IEA	12
GO:0006198	cAMP catabolic process	biological process	IDA[17404263]; IEA; IGI[8413254]; IMP[19252089]	3
GO:0045822	negative regulation of heart contraction	biological process	ISS[21903937]	4
GO:0086024	adrenergic receptor signaling pathway involved in positive regulation of heart rate	biological process	IC	1
GO:0050852	T cell receptor signaling pathway	biological process	IMP[17404263]	9
GO:0014911	positive regulation of smooth muscle cell migration	biological process	IEA	3
GO:0008277	regulation of G-protein coupled receptor protein signaling pathway	biological process	IEA	5
GO:0030593	neutrophil chemotaxis	biological process	IEA	8
GO:0032743	positive regulation of interleukin-2 production	biological process	IMP[17404263]	2
GO:0071875	adrenergic receptor signaling pathway	biological process	ISS	4
GO:0044325	ion channel binding	molecular function	IPI[16213210]; ISS	14
GO:0005813	centrosome	cellular component	IEA	34
GO:0030552	cAMP binding	molecular function	IDA[15938621]	5
GO:0051117	ATPase binding	molecular function	IPI[21903937]	6
GO:0002027	regulation of heart rate	biological process	ISS[16213210]	5
GO:0033137	negative regulation of peptidyl-serine phosphorylation	biological process	ISS[16213210]	3
GO:0005829	cytosol	cellular component	IDA[9371713]; TAS	223
GO:0071320	cellular response to cAMP	biological process	IDA[12121997]	8
GO:0010880	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum	biological process	ISS[16213210]	1
GO:0046872	metal ion binding	molecular function	IEA	115
GO:0007613	memory	biological process	IEA	22
GO:0086004	regulation of cardiac muscle cell contraction	biological process	ISS	5
GO:1901898	negative regulation of relaxation of cardiac muscle	biological process	ISS	2
GO:0005794	Golgi apparatus	cellular component	IEA	60
GO:0017124	SH3 domain binding	molecular function	IEA	11
GO:0007568	aging	biological process	IEA	22
GO:0008144	drug binding	molecular function	IPI[15938621]	21
GO:0019899	enzyme binding	molecular function	ISS[22975349]	34
GO:0010738	regulation of protein kinase A signaling	biological process	IEA	3
GO:0031625	ubiquitin protein ligase binding	molecular function	IPI[19372219]	25
GO:0031698	beta-2 adrenergic receptor binding	molecular function	ISS	2
GO:1901844	regulation of cell communication by electrical coupling involved in cardiac conduction	biological process	IC[16213210]	1
GO:0061028	establishment of endothelial barrier	biological process	ISS	1
GO:0032754	positive regulation of interleukin-5 production	biological process	IMP[17404263]	1
GO:0032729	positive regulation of interferon-gamma production	biological process	IMP[17404263]	7
GO:0019933	cAMP-mediated signaling	biological process	NAS[16177794]	6
GO:0016324	apical plasma membrane	cellular component	IEA	24
GO:0010469	regulation of receptor activity	biological process	ISS	2
GO:0034704	calcium channel complex	cellular component	IDA[16213210]	2

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 1)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00230	Purine metabolism	12

KEGG pathways by database search (count: 0)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 4)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
PDE4D	AKAP6	NO	in vitro;in vivo	11296225
PDE4D	GNB2L1	NO	in vitro;in vivo;yeast 2-hybrid	10329691 , 11516626
PDE4D	PDE4DIP	NO	in vivo;yeast 2-hybrid	11134006
PDE4D	PRKACA	NO	in vitro	8663227

Related other genetic factors

Gene related SNPs (count: 15)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (Positive/Negative/Trend)
rs17741863	chr5:59562476 - 59562476(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant	1(0/1/0)

LD-proxies (count: 14)

rs_ID	Location	Functional Annotation
rs10491441	chr5:59593411 - 59593411(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs10491440	chr5:59593379 - 59593379(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs17439074	chr5:59592893 - 59592893(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs36081664	chr5:59589753 - 59589753(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant; upstream_gene_variant
rs1035321	chr5:59586276 - 59586276(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs10514859	chr5:59583996 - 59583996(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs17798319	chr5:59562882 - 59562882(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11957151	chr5:59560713 - 59560713(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs41404047	chr5:59560099 - 59560099(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs17797996	chr5:59547830 - 59547830(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs893190	chr5:59609224 - 59609224(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs12520633	chr5:59611766 - 59611766(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs10491442	chr5:59593469 - 59593469(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant
rs11950308	chr5:59594089 - 59594089(1)	intron_variant; NMD_transcript_variant; non_coding_transcript_variant

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Zhang[2009]_121	chr5:59677588-60022604 (Affymetrix SNP 6.0 array reference genome)	345016		Singleton deletions

Gene related other variants (count: 0)

Gene related regions (count: 3)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
Chr 5	chr5:0-181538259	3 (0/2/1)
5p13.1-5q12.3	chr5:38400000-67400000	1 (0/1/0)
5p13.3-q13.3	chr5:28900000-77600000	1 (1/0/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 0)

Overlap with SZ from candidate gene intersection analysis (count: 1)

Reference	ID in SZGene	Result Category
19251251	783	Positive

Gene relationship with MDD

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Region: chr5:58969038..60522120 View in gBrowse