PDE3A phosphodiesterase 3A [Homo sapiens (human)] - Gene

Summary

Official Symbol: PDE3Aprovided by HGNC
Official Full Name: phosphodiesterase 3Aprovided by HGNC
Primary source: HGNC:HGNC:8778
See related: Ensembl:ENSG00000172572 MIM:123805; AllianceGenome:HGNC:8778
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: HTNB; CGI-PDE; CGI-PDE A; CGI-PDE-A
Summary: This gene encodes a member of the cGMP-inhibited cyclic nucleotide phosphodiesterase (cGI-PDE) family. cGI-PDE enzymes hydrolyze both cAMP and cGMP, and play critical roles in many cellular processes by regulating the amplitude and duration of intracellular cyclic nucleotide signals. The encoded protein mediates platelet aggregation and also plays important roles in cardiovascular function by regulating vascular smooth muscle contraction and relaxation. Inhibitors of the encoded protein may be effective in treating congestive heart failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Sep 2011]
Expression: Broad expression in heart (RPKM 15.7), placenta (RPKM 7.2) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 12p12.2

Exon count:: 20

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	12	NC_000012.12 (20368537..20688583)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	12	NC_060936.1 (20246943..20567173)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	12	NC_000012.11 (20521471..20841517)

Chromosome 12 - NC_000012.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Disruption of Phosphodiesterase 3A Binding to SERCA2 Increases SERCA2 Activity and Reduces Mortality in Mice With Chronic Heart Failure.
Title: Disruption of Phosphodiesterase 3A Binding to SERCA2 Increases SERCA2 Activity and Reduces Mortality in Mice With Chronic Heart Failure.
Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
Title: Mutant phosphodiesterase 3A protects the kidney from hypertension-induced damage.
Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage.
Title: Mutations in Phosphodiesterase 3A (PDE3A) Cause Hypertension Without Cardiac Damage.
Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
Title: Mutant Phosphodiesterase 3A Protects From Hypertension-Induced Cardiac Damage.
Impact of phosphodiesterases PDE3 and PDE4 on 5-hydroxytryptamine receptor4-mediated increase of cAMP in human atrial fibrillation.
Title: Impact of phosphodiesterases PDE3 and PDE4 on 5-hydroxytryptamine receptor4-mediated increase of cAMP in human atrial fibrillation.
Structure of PDE3A-SLFN12 complex reveals requirements for activation of SLFN12 RNase.
Title: Structure of PDE3A-SLFN12 complex reveals requirements for activation of SLFN12 RNase.
Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A).
Title: Identification and functional study of genetic polymorphisms in cyclic nucleotide phosphodiesterase 3A (PDE3A).
Nitric oxide activates AMPK by modulating PDE3A in human pulmonary artery smooth muscle cells.
Title: Nitric oxide activates AMPK by modulating PDE3A in human pulmonary artery smooth muscle cells.
Phosphodiesterase 3A Represents a Therapeutic Target that Drives Stem Cell-like Property and Metastasis in Breast Cancer.
Title: Phosphodiesterase 3A Represents a Therapeutic Target that Drives Stem Cell-like Property and Metastasis in Breast Cancer.
Influence of Genetic Variation in PDE3A on Endothelial Function and Stroke.
Title: Influence of Genetic Variation in PDE3A on Endothelial Function and Stroke.

Submit: New GeneRIF Correction See all GeneRIFs (41)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Brachydactyly-arterial hypertension syndrome MedGen: C1862170 OMIM: 112410 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
A genome-wide association scan of RR and QT interval duration in 3 European genetically isolated populations: the EUROSPAN project. EBI GWAS Catalog EBI GWAS CatalogPubMed
Biological, clinical and population relevance of 95 loci for blood lipids. EBI GWAS Catalog EBI GWAS CatalogPubMed
Discovery and refinement of loci associated with lipid levels. EBI GWAS Catalog EBI GWAS CatalogPubMed
Gene-alcohol interactions identify several novel blood pressure loci including a promising locus near SLC16A9. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genetic variants associated with cardiac structure and function: a meta-analysis and replication of genome-wide association data. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide meta-analysis identifies variants associated with platinating agent susceptibility across populations EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. EBI GWAS Catalog EBI GWAS CatalogPubMed
Investigation of single nucleotide polymorphisms and biological pathways associated with response to TNF&#x003b1; inhibitors in patients with rheumatoid arthritis. EBI GWAS Catalog EBI GWAS CatalogPubMed
Many sequence variants affecting diversity of adult human height. EBI GWAS Catalog EBI GWAS CatalogPubMed
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat decreases the intracellular levels of cAMP and CREB ser-133 phosphorylation through a signal transduction pathway involving sequential activation of phosphatidylinositol 3-kinase, AKT, and cyclic nucleoside phosphodiesterases	PubMed

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH26361 (e-PCR)
- UniSTS:90369

SHGC-83125 (e-PCR)
- UniSTS:101122

SHGC-145148 (e-PCR)
- UniSTS:174417

RH122765 (e-PCR)
- UniSTS:134994

RH122774 (e-PCR)
- UniSTS:135003

RH11286 (e-PCR)
- UniSTS:19573

SHGC-35793 (e-PCR)
- UniSTS:8856

STS-M91667 (e-PCR)
- UniSTS:71333

G11803 (e-PCR)
- UniSTS:30388

D12S1682 (e-PCR), detects polymorphism
- UniSTS:53687

G22294 (e-PCR)
- UniSTS:67554

SHGC-106913 (e-PCR)
- UniSTS:182509

PMC128323P1 (e-PCR)
- UniSTS:270576

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables 3',5'-cyclic-AMP phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3',5'-cyclic-AMP phosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3',5'-cyclic-AMP phosphodiesterase activity	TAS Traceable Author Statement more info
enables 3',5'-cyclic-GMP phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3',5'-cyclic-GMP phosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables 3',5'-cyclic-nucleotide phosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables cGMP-inhibited cyclic-nucleotide phosphodiesterase activity	IDA Inferred from Direct Assay more info	PubMed
enables estrogen binding	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables nuclear estrogen receptor activity	IDA Inferred from Direct Assay more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in G protein-coupled receptor signaling pathway	TAS Traceable Author Statement more info
involved_in apoptotic signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in apoptotic signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cAMP-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cAMP-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cGMP-mediated signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in cellular response to cGMP	IDA Inferred from Direct Assay more info	PubMed
involved_in cellular response to transforming growth factor beta stimulus	IEP Inferred from Expression Pattern more info	PubMed
involved_in lipid metabolic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of adenylate cyclase-activating G protein-coupled receptor signaling pathway	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of cAMP-mediated signaling	IEA Inferred from Electronic Annotation more info
involved_in negative regulation of vascular permeability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in oocyte maturation	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of oocyte development	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of vascular permeability	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of meiotic nuclear division	IEA Inferred from Electronic Annotation more info
involved_in regulation of ribonuclease activity	IDA Inferred from Direct Assay more info	PubMed
involved_in regulation of ribonuclease activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in steroid hormone mediated signaling pathway	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	TAS Traceable Author Statement more info
located_in membrane	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A

Names: cAMP phosphodiesterase, myocardial cGMP-inhibited; cGMP-inhibited 3',5'-cyclic phosphodiesterase A; cGMP-inhibited cAMP phosphodiesterase; cyclic GMP-inhibited phosphodiesterase A; phosphodiesterase 3A, cGMP-inhibited

NP_000912.3

EC 3.1.4.17

NP_001231612.1

EC 3.1.4.17

NP_001365336.1

EC 3.1.4.17

NP_001365337.1

EC 3.1.4.17

NP_001365338.1

EC 3.1.4.17

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_030033.2 RefSeqGene

Range

5002..325048

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GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_000921.5 → NP_000912.3 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 1

See identical proteins and their annotated locations for NP_000912.3

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longest isoform (1).

Source sequence(s)

AC112777, AC129102

Consensus CDS

CCDS31754.1

UniProtKB/Swiss-Prot

O60865, Q13348, Q14432, Q17RD1

Related

ENSP00000351957.3, ENST00000359062.4

Conserved Domains (1) summary

pfam00233
Location:751 → 1012

PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
NM_001244683.2 → NP_001231612.1 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 2

Status: REVIEWED

Description

Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (2) is shorter and has a distinct N-terminus, compared to isoform 1.

Source sequence(s)

AC112777

Conserved Domains (1) summary

pfam00233
Location:429 → 690

PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
NM_001378407.1 → NP_001365336.1 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 3

Status: REVIEWED

Source sequence(s)

AC112777, AC129102

Conserved Domains (1) summary

pfam00233
Location:649 → 910

PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
NM_001378408.1 → NP_001365337.1 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 4

Status: REVIEWED

Source sequence(s)

AC112777, AC129029, AC129102

Conserved Domains (1) summary

pfam00233
Location:430 → 691

PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase
NM_001378409.1 → NP_001365338.1 cGMP-inhibited 3',5'-cyclic phosphodiesterase 3A isoform 5

Status: REVIEWED

Source sequence(s)

AC112777

Conserved Domains (1) summary

pfam00233
Location:429 → 690

PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase