The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member... See more...

Aliases for PDE7B Gene

Aliases for PDE7B Gene

  • Phosphodiesterase 7B 2 3 5
  • CAMP-Specific 3',5'-Cyclic Phosphodiesterase 7B 3 4
  • High-Affinity CAMP-Specific 3',5'-Cyclic Phosphodiesterase 3
  • Rolipram-Insensitive Phosphodiesterase Type 7 3
  • EC 3.1.4.17 52
  • EC 3.1.4.53 4
  • BA472E5.1 3
  • EC 3.1.4 52

External Ids for PDE7B Gene

Previous GeneCards Identifiers for PDE7B Gene

  • GC06P136019
  • GC06P136153
  • GC06P136214
  • GC06P133737

Summaries for PDE7B Gene

Entrez Gene Summary for PDE7B Gene

  • The 3',5'-cyclic nucleotides cAMP and cGMP function as second messengers in a wide variety of signal transduction pathways. 3',5'-cyclic nucleotide phosphodiesterases (PDEs) catalyze the hydrolysis of cAMP and cGMP to the corresponding 5'-monophosphates and provide a mechanism to downregulate cAMP and cGMP signaling. This gene encodes a cAMP-specific phosphodiesterase, a member of the cyclic nucleotide phosphodiesterase family.[provided by RefSeq, Apr 2009]

GeneCards Summary for PDE7B Gene

PDE7B (Phosphodiesterase 7B) is a Protein Coding gene. Diseases associated with PDE7B include Dyslexia and Joubert Syndrome 3. Among its related pathways are Signaling by GPCR and Metabolism. Gene Ontology (GO) annotations related to this gene include 3',5'-cyclic-nucleotide phosphodiesterase activity and 3',5'-cyclic-AMP phosphodiesterase activity. An important paralog of this gene is PDE7A.

UniProtKB/Swiss-Prot Summary for PDE7B Gene

  • Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in the control of cAMP-mediated neural activity and cAMP metabolism in the brain.

Additional gene information for PDE7B Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PDE7B Gene

Genomics for PDE7B Gene

GeneHancer (GH) Regulatory Elements for PDE7B Gene

Promoters and enhancers for PDE7B Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J135850 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 519 +44.0 43963 4.2 EP300 ZSCAN5C TCF12 USF1 JUND FOS POLR2A TRIM28 ATF2 NFYB PDE7B NONHSAG044923.2 ENSG00000286313 LOC101928373
GH06J136036 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 500.1 +229.9 229872 5.6 TCF12 CTCF NR2F2 GATA3 CEBPB FOS RXRA GATA2 JUN POLR2A PDE7B COX5BP2 LOC644135 ENSG00000237596
GH06J135808 Enhancer 0.2 Ensembl 500.7 -0.5 -451 0.2 ENSG00000236378 LOC101928326 PDE7B LOC105378012 LINC00271
GH06J135537 Enhancer 1 FANTOM5 Ensembl ENCODE 20.9 -270.9 -270851 1.4 TCF12 JUND FOS CEBPG FOSL2 CEBPB MAFK ATF4 JUN BHLHE40 lnc-PDE7B-4 PDE7B AHI1 LINC00271
GH06J135586 Enhancer 1 FANTOM5 Ensembl ENCODE 17.7 -221.7 -221729 0.5 RELA BCL11A CBFB ARNT NR2C1 NR2F1 POU2F2 IKZF1 BMI1 ATF2 PDE7B piR-32810-113 GAPDHP73 LINC00271
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PDE7B on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PDE7B

Top Transcription factor binding sites by QIAGEN in the PDE7B gene promoter:
  • Cart-1
  • Chx10
  • POU2F1
  • POU2F1a

Genomic Locations for PDE7B Gene

Genomic Locations for PDE7B Gene
chr6:135,808,752-136,195,574
(GRCh38/hg38)
Size:
386,823 bases
Orientation:
Plus strand
chr6:136,172,834-136,516,712
(GRCh37/hg19)
Size:
343,879 bases
Orientation:
Plus strand

Genomic View for PDE7B Gene

Genes around PDE7B on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PDE7B Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PDE7B Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PDE7B Gene

Proteins for PDE7B Gene

  • Protein details for PDE7B Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NP56-PDE7B_HUMAN
    Recommended name:
    cAMP-specific 3',5'-cyclic phosphodiesterase 7B
    Protein Accession:
    Q9NP56
    Secondary Accessions:
    • Q5W154

    Protein attributes for PDE7B Gene

    Size:
    450 amino acids
    Molecular mass:
    51835 Da
    Cofactor:
    Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for PDE7B Gene

neXtProt entry for PDE7B Gene

Selected DME Specific Peptides for PDE7B Gene

Q9NP56:
  • HAADVTQ
  • SVLENHH
  • FDIFLFDRLTNGNSLV
  • ALKCADICNPCR
  • DHPGVNQPFLIKTNH
  • HDVDHPG
  • RLLSFQRY

Post-translational modifications for PDE7B Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PDE7B Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for PDE7B Gene

Gene Families for PDE7B Gene

HGNC:
IUPHAR :
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for PDE7B Gene

Suggested Antigen Peptide Sequences for PDE7B Gene

GenScript: Design optimal peptide antigens:
  • Phosphodiesterase PDE7B2 (A1E5M1_HUMAN)
  • cAMP-specific 3',5'-cyclic phosphodiesterase 7B (PDE7B_HUMAN)
  • Phosphodiesterase 7B (Q4VXJ0_HUMAN)
  • PDE7B protein (Q6NSC8_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NP56

UniProtKB/Swiss-Prot:

PDE7B_HUMAN :
  • Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal regulatory domain.
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE7 subfamily.
Domain:
  • Composed of a C-terminal catalytic domain containing two putative divalent metal sites and an N-terminal regulatory domain.
Family:
  • Belongs to the cyclic nucleotide phosphodiesterase family. PDE7 subfamily.
genes like me logo Genes that share domains with PDE7B: view

Function for PDE7B Gene

Molecular function for PDE7B Gene

UniProtKB/Swiss-Prot Function:
Hydrolyzes the second messenger cAMP, which is a key regulator of many important physiological processes. May be involved in the control of cAMP-mediated neural activity and cAMP metabolism in the brain.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=3',5'-cyclic AMP + H2O = AMP + H(+); Xref=Rhea:RHEA:25277, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:58165, ChEBI:CHEBI:456215; EC=3.1.4.53;.
UniProtKB/Swiss-Prot EnzymeRegulation:
Inhibited by dipyridamole, IBMX and SCH 51866. Insensitive to zaprinast, rolipram, and milrinone.

Enzyme Numbers (IUBMB) for PDE7B Gene

Phenotypes From GWAS Catalog for PDE7B Gene

Gene Ontology (GO) - Molecular Function for PDE7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004115 3',5'-cyclic-AMP phosphodiesterase activity IBA,IEA 21873635
GO:0008081 phosphoric diester hydrolase activity IEA --
GO:0016787 hydrolase activity IEA --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with PDE7B: view
genes like me logo Genes that share phenotypes with PDE7B: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PDE7B Gene

Localization for PDE7B Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PDE7B gene
Compartment Confidence
cytosol 5
nucleus 3
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for PDE7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0045202 synapse IEA --
genes like me logo Genes that share ontologies with PDE7B: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PDE7B Gene

Pathways & Interactions for PDE7B Gene

genes like me logo Genes that share pathways with PDE7B: view

Pathways by source for PDE7B Gene

UniProtKB/Swiss-Prot Q9NP56-PDE7B_HUMAN

  • Pathway: Purine metabolism; 3',5'-cyclic AMP degradation; AMP from 3',5'-cyclic AMP: step 1/1.

Gene Ontology (GO) - Biological Process for PDE7B Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006198 cAMP catabolic process IEA --
GO:0007165 signal transduction IEA,TAS 10814504
GO:0007186 G protein-coupled receptor signaling pathway TAS --
GO:0007268 chemical synaptic transmission TAS 10814504
genes like me logo Genes that share ontologies with PDE7B: view

No data available for SIGNOR curated interactions for PDE7B Gene

Drugs & Compounds for PDE7B Gene

(13) Drugs for PDE7B Gene - From: DrugBank, ApexBio, DGIdb, IUPHAR, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dyphylline Approved Pharma Target, inhibitor 0
Dipyridamole Approved Pharma Inhibition, Inhibitor, inhibitor Adenosine transport inhibitor 89
Caffeine Approved Pharma Antagonist, Activator, Target, inhibitor 560
Ketotifen Approved Pharma 29
Water Approved Pharma 0

(1) ApexBio Compounds for PDE7B Gene

Compound Action Cas Number
BRL 50481 PDE7 inhibitor,potent and selective
genes like me logo Genes that share compounds with PDE7B: view

Drug Products

Transcripts for PDE7B Gene

mRNA/cDNA for PDE7B Gene

1 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PDE7B Gene

No ASD Table

Relevant External Links for PDE7B Gene

GeneLoc Exon Structure for
PDE7B

Expression for PDE7B Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PDE7B Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PDE7B Gene

This gene is overexpressed in Brain - Nucleus accumbens (basal ganglia) (x5.0), Brain - Putamen (basal ganglia) (x4.6), and Brain - Caudate (basal ganglia) (x4.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PDE7B

SOURCE GeneReport for Unigene cluster for PDE7B Gene:

Hs.744230

mRNA Expression by UniProt/SwissProt for PDE7B Gene:

Q9NP56-PDE7B_HUMAN
Tissue specificity: Highly expressed in brain. Also expressed in heart, liver, skeletal muscle and pancreas.

Evidence on tissue expression from TISSUES for PDE7B Gene

  • Nervous system(4.4)
genes like me logo Genes that share expression patterns with PDE7B: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for PDE7B Gene

Orthologs for PDE7B Gene

This gene was present in the common ancestor of chordates.

Orthologs for PDE7B Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PDE7B 31 30
  • 99.45 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PDE7B 31 30
  • 94.27 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PDE7B 31 30
  • 92.51 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pde7b 17 31 30
  • 89.96 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia PDE7B 31
  • 89 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pde7b 30
  • 88.99 (n)
oppossum
(Monodelphis domestica)
Mammalia PDE7B 31
  • 70 (a)
OneToOne
chicken
(Gallus gallus)
Aves PDE7B 31 30
  • 80.92 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PDE7B 31
  • 86 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pde7b 30
  • 77.07 (n)
zebrafish
(Danio rerio)
Actinopterygii CR848033.1 31
  • 18 (a)
ManyToMany
Species where no ortholog for PDE7B was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PDE7B Gene

ENSEMBL:
Gene Tree for PDE7B (if available)
TreeFam:
Gene Tree for PDE7B (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PDE7B: view image

Paralogs for PDE7B Gene

(8) SIMAP similar genes for PDE7B Gene using alignment to 4 proteins:

  • PDE7B_HUMAN
  • A1E5M1_HUMAN
  • H0Y689_HUMAN
  • Q6NSC8_HUMAN
genes like me logo Genes that share paralogs with PDE7B: view

Variants for PDE7B Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PDE7B Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
709056 Benign: not provided 136,147,433(+) G/A SYNONYMOUS_VARIANT
718533 Benign: not provided 136,155,644(+) G/A SYNONYMOUS_VARIANT
775242 Benign: not provided 136,179,077(+) A/G MISSENSE_VARIANT
776163 Benign: not provided 136,191,834(+) C/G MISSENSE_VARIANT
792055 Benign: not provided 136,173,871(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for PDE7B Gene

Structural Variations from Database of Genomic Variants (DGV) for PDE7B Gene

Variant ID Type Subtype PubMed ID
esv1491990 CNV insertion 17803354
esv2263540 CNV deletion 18987734
esv2530297 CNV deletion 19546169
esv2657421 CNV deletion 23128226
esv2667637 CNV deletion 23128226
esv2732744 CNV deletion 23290073
esv2732745 CNV deletion 23290073
esv2759472 CNV loss 17122850
esv2761025 CNV loss 21179565
esv2919 CNV loss 18987735
esv3310375 CNV mobile element insertion 20981092
esv3409308 CNV insertion 20981092
esv3423301 CNV insertion 20981092
esv3444994 CNV insertion 20981092
esv3540512 CNV deletion 23714750
esv3610902 CNV loss 21293372
esv3610903 CNV loss 21293372
esv3610904 CNV loss 21293372
esv3610905 CNV loss 21293372
esv3610909 CNV loss 21293372
esv3610910 CNV loss 21293372
esv3610911 CNV loss 21293372
esv8107 CNV loss 19470904
nsv1023345 CNV loss 25217958
nsv1112905 CNV deletion 24896259
nsv1120533 CNV tandem duplication 24896259
nsv1125889 CNV tandem duplication 24896259
nsv1128276 CNV deletion 24896259
nsv526684 CNV loss 19592680
nsv818458 CNV loss 17921354
nsv830816 CNV gain 17160897

Variation tolerance for PDE7B Gene

Residual Variation Intolerance Score: 45% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.92; 35.67% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PDE7B Gene

Human Gene Mutation Database (HGMD)
PDE7B
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PDE7B

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PDE7B Gene

Disorders for PDE7B Gene

MalaCards: The human disease database

(2) MalaCards diseases for PDE7B Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
dyslexia
joubert syndrome 3
  • jbts3
- elite association - COSMIC cancer census association via MalaCards
Search PDE7B in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PDE7B

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PDE7B: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PDE7B Gene

Publications for PDE7B Gene

  1. Identification of human PDE7B, a cAMP-specific phosphodiesterase. (PMID: 10814504) Sasaki T … Omori K (Biochemical and biophysical research communications 2000) 3 4 23 54
  2. Cloning and characterization of PDE7B, a cAMP-specific phosphodiesterase. (PMID: 10618442) Hetman JM … Beavo JA (Proceedings of the National Academy of Sciences of the United States of America 2000) 2 3 23 54
  3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41 54
  4. Human variation in alcohol response is influenced by variation in neuronal signaling genes. (PMID: 20201926) Joslyn G … White RL (Alcoholism, clinical and experimental research 2010) 3 41 54
  5. Identification of novel candidate genes for treatment response to risperidone and susceptibility for schizophrenia: integrated analysis among pharmacogenomics, mouse expression, and genetic case-control association approaches. (PMID: 19850283) Ikeda M … Iwata N (Biological psychiatry 2010) 3 41 54

Products for PDE7B Gene

Sources for PDE7B Gene