Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	5138
Gene name	Phosphodiesterase 2A
Gene symbol	PDE2A
Synonyms (NCBI Gene)	CGS-PDEIDDPADSPDE2A1PED2A4cGSPDE
Chromosome	11
Chromosome location	11q13.4

Show/Hide all (42)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004169	hsa-miR-192-5p	Microarray	16822819
MIRT017522	hsa-miR-335-5p	Microarray	18185580
MIRT1220258	hsa-miR-103b	CLIP-seq
MIRT1220259	hsa-miR-298	CLIP-seq
MIRT1220260	hsa-miR-3151	CLIP-seq
MIRT1220261	hsa-miR-3675-5p	CLIP-seq
MIRT1220262	hsa-miR-3919	CLIP-seq
MIRT1220263	hsa-miR-4311	CLIP-seq
MIRT1220264	hsa-miR-4428	CLIP-seq
MIRT1220265	hsa-miR-4676-5p	CLIP-seq
MIRT1220266	hsa-miR-4786-3p	CLIP-seq
MIRT1220267	hsa-miR-486-3p	CLIP-seq
MIRT1220268	hsa-miR-494	CLIP-seq
MIRT1220269	hsa-miR-541	CLIP-seq
MIRT1220270	hsa-miR-543	CLIP-seq
MIRT1220271	hsa-miR-575	CLIP-seq
MIRT1220272	hsa-miR-587	CLIP-seq
MIRT1220273	hsa-miR-654-5p	CLIP-seq
MIRT1220258	hsa-miR-103b	CLIP-seq
MIRT2063610	hsa-miR-1266	CLIP-seq
MIRT2063611	hsa-miR-3199	CLIP-seq
MIRT2063612	hsa-miR-4518	CLIP-seq
MIRT2063613	hsa-miR-4731-5p	CLIP-seq
MIRT2063614	hsa-miR-510	CLIP-seq
MIRT2292084	hsa-miR-2467-3p	CLIP-seq
MIRT1220260	hsa-miR-3151	CLIP-seq
MIRT2292085	hsa-miR-3173-5p	CLIP-seq
MIRT1220261	hsa-miR-3675-5p	CLIP-seq
MIRT2292086	hsa-miR-3678-3p	CLIP-seq
MIRT1220264	hsa-miR-4428	CLIP-seq
MIRT2292087	hsa-miR-4685-5p	CLIP-seq
MIRT2292088	hsa-miR-4722-3p	CLIP-seq
MIRT2292089	hsa-miR-4755-3p	CLIP-seq
MIRT1220267	hsa-miR-486-3p	CLIP-seq
MIRT1220269	hsa-miR-541	CLIP-seq
MIRT1220273	hsa-miR-654-5p	CLIP-seq
MIRT2589693	hsa-miR-198	CLIP-seq
MIRT2589694	hsa-miR-377	CLIP-seq
MIRT2292087	hsa-miR-4685-5p	CLIP-seq
MIRT2589693	hsa-miR-198	CLIP-seq
MIRT2589694	hsa-miR-377	CLIP-seq
MIRT2292087	hsa-miR-4685-5p	CLIP-seq

Show/Hide all (81)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IDA	17329248
GO:0000166	Function	Nucleotide binding	IEA
GO:0000287	Function	Magnesium ion binding	IDA	15938621
GO:0003170	Process	Heart valve development	ISS
GO:0003281	Process	Ventricular septum development	ISS
GO:0004114	Function	3',5'-cyclic-nucleotide phosphodiesterase activity	IEA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IBA
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IDA	9210593, 14687666, 15938621
GO:0004115	Function	3',5'-cyclic-AMP phosphodiesterase activity	IEA
GO:0004118	Function	3',5'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity	IBA
GO:0004118	Function	3',5'-cGMP-stimulated cyclic-nucleotide phosphodiesterase activity	IDA	17329248, 19689430
GO:0005515	Function	Protein binding	IPI	17329248
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	10375378
GO:0005737	Component	Cytoplasm	IDA	10375378, 19506089
GO:0005737	Component	Cytoplasm	IEA
GO:0005739	Component	Mitochondrion	IEA
GO:0005741	Component	Mitochondrial outer membrane	IBA
GO:0005741	Component	Mitochondrial outer membrane	IDA	28463107
GO:0005741	Component	Mitochondrial outer membrane	IEA
GO:0005743	Component	Mitochondrial inner membrane	IBA
GO:0005743	Component	Mitochondrial inner membrane	IDA	28463107
GO:0005743	Component	Mitochondrial inner membrane	IEA
GO:0005759	Component	Mitochondrial matrix	IBA
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005783	Component	Endoplasmic reticulum	ISS
GO:0005794	Component	Golgi apparatus	ISS
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA	17329248
GO:0005829	Component	Cytosol	TAS
GO:0005886	Component	Plasma membrane	IDA	17329248
GO:0005886	Component	Plasma membrane	IDA	19252089
GO:0005886	Component	Plasma membrane	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007193	Process	Adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway	IDA	17329248
GO:0008081	Function	Phosphoric diester hydrolase activity	IEA
GO:0008270	Function	Zinc ion binding	IDA	15938621
GO:0010628	Process	Positive regulation of gene expression	IBA
GO:0010752	Process	Regulation of cGMP-mediated signaling	IMP	15938621
GO:0010754	Process	Negative regulation of cGMP-mediated signaling	IBA
GO:0010821	Process	Regulation of mitochondrion organization	IBA
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0019934	Process	CGMP-mediated signaling	IBA
GO:0019934	Process	CGMP-mediated signaling	IMP	17704206
GO:0030224	Process	Monocyte differentiation	IEP	14687666
GO:0030552	Function	CAMP binding	IMP	15938621
GO:0030553	Function	CGMP binding	IDA	17329248, 19689430, 19828435
GO:0030553	Function	CGMP binding	IEA
GO:0030553	Function	CGMP binding	IMP	15938621
GO:0030911	Function	TPR domain binding	IPI	17329248
GO:0035904	Process	Aorta development	ISS
GO:0036006	Process	Cellular response to macrophage colony-stimulating factor stimulus	IDA	14687666
GO:0042301	Function	Phosphate ion binding	IDA	15938621
GO:0042734	Component	Presynaptic membrane	ISS
GO:0042802	Function	Identical protein binding	IEA
GO:0042802	Function	Identical protein binding	IPI	19828435
GO:0042803	Function	Protein homodimerization activity	IBA
GO:0042803	Function	Protein homodimerization activity	IPI	19828435
GO:0043116	Process	Negative regulation of vascular permeability	IMP	17704206
GO:0043117	Process	Positive regulation of vascular permeability	IMP	17704206
GO:0046069	Process	CGMP catabolic process	IBA
GO:0046069	Process	CGMP catabolic process	IDA	19828435
GO:0046872	Function	Metal ion binding	IEA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IBA
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IDA	9210593, 14687666, 15938621
GO:0047555	Function	3',5'-cyclic-GMP phosphodiesterase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IBA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	10375378
GO:0050729	Process	Positive regulation of inflammatory response	ISS
GO:0061028	Process	Establishment of endothelial barrier	ISS
GO:0071260	Process	Cellular response to mechanical stimulus	ISS
GO:0071320	Process	Cellular response to cAMP	IDA	17329248
GO:0071321	Process	Cellular response to cGMP	IDA	17704206, 19828435
GO:0071466	Process	Cellular response to xenobiotic stimulus	IEP	14687666
GO:0071560	Process	Cellular response to transforming growth factor beta stimulus	IEP	17704206
GO:0097011	Process	Cellular response to granulocyte macrophage colony-stimulating factor stimulus	IDA	14687666
GO:0097060	Component	Synaptic membrane	IBA
GO:0106072	Process	Negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP	19252089
GO:0141162	Process	Negative regulation of cAMP/PKA signal transduction	IBA
GO:1904613	Process	Cellular response to 2,3,7,8-tetrachlorodibenzodioxine	IDA	17329248

MIM	HGNC	e!Ensembl
602658	8777	ENSG00000186642

O00408

Protein name

cGMP-dependent 3',5'-cyclic phosphodiesterase (EC 3.1.4.17) (Cyclic GMP-stimulated phosphodiesterase) (CGS-PDE) (cGSPDE)

Protein function

cGMP-activated cyclic nucleotide phosphodiesterase with a dual-specificity for the second messengers cAMP and cGMP, which are key regulators of many important physiological processes (PubMed:15938621, PubMed:29392776, PubMed:9210593). Has a high

PDB

1Z1L , 3IBJ , 3ITM , 3ITU , 4C1I , 4D08 , 4D09 , 4HTX , 4HTZ , 4JIB , 5TZ3 , 5TZA , 5TZC , 5TZH , 5TZW , 5TZX , 5TZZ , 5U00 , 5U7D , 5U7I , 5U7J , 5U7K , 5U7L , 5VP0 , 5VP1 , 5XKM , 6B96 , 6B97 , 6B98 , 6BLF , 6C7D , 6C7E , 6C7F , 6C7G , 6C7I , 6C7J , 6CYB , 6CYC , 6CYD , 6ZND , 6ZQZ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01590	GAF	241 → 372	GAF domain	Domain
PF01590	GAF	409 → 548	GAF domain	Domain
PF00233	PDEase_I	655 → 889		Domain

Tissue specificity

TISSUE SPECIFICITY: Widely expressed (PubMed:29392776, PubMed:9210593). Expressed in brain, with high expression observed in the corpus striatum (PubMed:29392776). Also expressed in heart, placenta, lung, skeletal muscle, kidney and pancreas (PubMed:29392

Sequence

MGQACGHSILCRSQQYPAARPAEPRGQQVFLKPDEPPPPPQPCADSLQDALLSLGSVIDI
SGLQRAVKEALSAVLPRVETVYTYLLDGESQLVCEDPPHELPQEGKVREAIISQKRLGCN
GLGFSDLPGKPLARLVAPLAPDTQVLVMPLADKEAGAVAAVILVHCGQLSDNEEWSLQAV
EKHTLVALRRVQVLQQRGPREAPRAVQNPPEGTAEDQKGGAAYTDRDRKILQLCGELYDL
DASSLQLKVLQYLQQETRASRCCLLLVSEDNLQLSCKVIGDKVLGEEVSFPLTGCLGQVV
EDKKSIQLKDLTSEDVQQLQSMLGCELQAMLCVPVISRATDQVVALACAFNKLEGDLFTD
EDEHVIQHCFHYTSTVLTSTLAFQKEQKLKCECQALLQVAKNLFTHLDDVSVLLQEIITE
ARNLSNAEICSVFLLDQNELVAKVFDGGVVDDESYEIRIPADQGIAGHVATTGQILNIPD
AYAHPLFYRGVDDSTGFRTRNILCFPIKNENQEVIGVAELVNKINGPWFSKFDEDLATAF
SIYCGISIAHSLLYKKVNEAQYRSHLANEMMMYHMKVSDDEYTKLLHDGIQPVAAIDSNF
ASFTYTPRSLPEDDTSMAILSMLQDMNFINNYKIDCPTLARFCLMVKKGYRDPPYHNWMH
AFSVSHFCYLLYKNLELTNYLEDIEIFALFISCMCHDLDHRGTNNSFQVASKSVLAALYS
SEGSVMERHHFAQAIAILNTHGCNIFDHFSRKDYQRMLDLMRDIILATDLAHHLRIFKDL
QKMAEVGYDRNNKQHHRLLLCLLMTSCDLSDQTKGWKTTRKIAELIYKEFFSQGDLEKAM
GNRPMEMMDREKAYIPELQISFMEHIAMPIYKLLQDLFPKAAELYERVASNREHWTKVSH
KFTIRGLPSNNSLDFLDEEYEVPDLDGTRAPINGCCSLDAE

Sequence length

941

Interactions

View interactions

	KEGG		Reactome
	Purine metabolism Metabolic pathways cGMP-PKG signaling pathway Olfactory transduction Aldosterone synthesis and secretion Morphine addiction		cGMP effects G alpha (s) signalling events

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Intellectual developmental disorder with paroxysmal dyskinesia or seizures	Likely pathogenic; Pathogenic	rs111657177, rs1591023585, rs1855880808, rs1855739332, rs987916591, rs1856914827	RCV002266781 RCV001290006 RCV001290005 RCV001290007 RCV001290008 RCV001290009 View all (1 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
BREAST NEOPLASMS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CHOREA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOUTH NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ORAL CAVITY CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PDE2A-related disorder	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
RHEUMATOID ARTHRITIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Squamous cell lung carcinoma	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (43)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Adrenal Cortical Adenoma	Adrenocortical adenoma	BEFREE	21565795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adrenal Hyperplasia Congenital	Congenital adrenal hyperplasia	Pubtator	33112806	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety	Anxiety Disorder	BEFREE	30835157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Anxiety Disorders	Anxiety Disorder	BEFREE	30835157		★★★★★ ★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	23577190	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	BEFREE	27902448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar Disorder	BEFREE	27902448		★★★★★ ★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	12972520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	35800238, 36054420, 37622118, 39699377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	36611861	Inhibit	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy Dilated	Dilated cardiomyopathy	Pubtator	26095046	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cardiomyopathy, Familial Idiopathic	Cardiomyopathy	BEFREE	26095046		★★★★★ ★☆☆☆☆ Found in Text Mining only
Chorea	Chorea	Pubtator	32467598	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cognition Disorders	Cognitive disorder	BEFREE	28759228, 28796496, 29093293		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	32467598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	24942287		★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital Heart Defects	Congenital heart defects	BEFREE	29409032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	26619243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	32467598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dystonia Disorders	Dystonia	BEFREE	30028274		★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	32467598	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Fragile X Syndrome	BEFREE	30137253		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hereditary Chorea	Hereditary Chorea	BEFREE	29392776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypertensive disease	Hypertension	BEFREE	28055196		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	28587776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	12972520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	12972520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	12972520		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	12972520		★★★★★ ★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23381931		★★★★★ ★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23381931	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Memory Disorders	Memory Disorders	BEFREE	28165743, 31253692		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	BEFREE	26619243		★★★★★ ★☆☆☆☆ Found in Text Mining only
Mucocutaneous Lymph Node Syndrome	Kawasaki disease	Pubtator	26619243	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	21565795		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	28587776		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ovarian Diseases	Ovarian diseases	Pubtator	39699377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Overriding aorta	Overriding aorta	BEFREE	29409032		★★★★★ ★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	GWASCAT_DG	22446963		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	GWASDB_DG	22446963		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Schizophrenia	Schizophrenia	BEFREE	28587776, 29440309		★★★★★ ★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	36981021, 39699377	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	31804677	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only

PDE2A (phosphodiesterase 2A)