PDE7B phosphodiesterase 7B [Homo sapiens (human)] - Gene

Summary

Official Symbol: PDE7Bprovided by HGNC
Official Full Name: phosphodiesterase 7Bprovided by HGNC
Primary source: HGNC:HGNC:8792
See related: Ensembl:ENSG00000171408 MIM:604645; AllianceGenome:HGNC:8792
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: bA472E5.1
Summary: 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]
Expression: Ubiquitous expression in ovary (RPKM 3.7), endometrium (RPKM 2.5) and 22 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6q23.3

Exon count:: 13

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (135851701..136195574)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (137039966..137383688)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (136172839..136516712)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues 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?

Methylation-regulated tumor suppressor gene PDE7B promotes HCC invasion and metastasis through the PI3K/AKT signaling pathway.
Title: Methylation-regulated tumor suppressor gene PDE7B promotes HCC invasion and metastasis through the PI3K/AKT signaling pathway.
Role and mechanism of Circ-PDE7B in the formation of keloid.
Title: Role and mechanism of Circ-PDE7B in the formation of keloid.
The Prognostic Significance of PDE7B in Cytogenetically Normal Acute Myeloid Leukemia.
Title: The Prognostic Significance of PDE7B in Cytogenetically Normal Acute Myeloid Leukemia.
We have identified three novel loci (PDE7B, UBL3, and a new independent marker in CDKN2B-AS1) associated with BRCAX, and replicated previously reported SNPs (24 of 92) and moderate/high-penetrance (seven of 23) genes for Korean BRCAX. For the novel candidate loci, evidence supported their roles in regulatory function
Title: BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts.
both low miR-200c and high PDE7B expression were correlated with poor survival of breast cancer patients. Our study supports a critical role of miR-200c/PDE7B relationship in triple-negative breast cancer tumorigenesis.
Title: Phosphodiesterase 7B/microRNA-200c relationship regulates triple-negative breast cancer cell growth.
PDE7B polymorphisms were not associated with schizophrenia risk.
Title: PDE7B, NMBR and EPM2A Variants and Schizophrenia: A Case-Control and Pharmacogenetics Study.
higher expression of PDE7B might be a novel unfavorable prognostic indicator in MCL, which possess important clinical significance.
Title: High expression of cyclic nucleotide phosphodiesterase 7B mRNA predicts poor prognosis in mantle cell lymphoma.
PDE7B mRNA expression is obviously higher in mantle cell lymphoma patients compared with normal controls and significantly correlates with unfavorable cytogenetic characteristics.
Title: [Expression of cyclic nucleotide phosphodiesterase 7B in patients with mantle cell lymphoma and its prognostic significance].
The low frequency of this 5' untranslated region variant indicates that it does not explain the higher PDE7B expression in patients with chronic lymphocytic leukemia (CLL) but it has the potential to influence other settings that involve a role for PDE7B.
Title: Genetic variation in phosphodiesterase (PDE) 7B in chronic lymphocytic leukemia: overview of genetic variants of cyclic nucleotide PDEs in human disease.
High PDE7B is associated with chronic lymphocytic leukemia.
Title: Cyclic nucleotide phosphodiesterase 7B mRNA: an unfavorable characteristic in chronic lymphocytic leukemia.

Submit: New GeneRIF Correction See all GeneRIFs (17)

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

EBI GWAS Catalog

Description
Common genetic variants associate with serum phosphorus concentration. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study and meta-analysis of intraocular pressure. EBI GWAS Catalog EBI GWAS CatalogPubMed
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S1626 (e-PCR), detects polymorphism
- UniSTS:82436

SHGC-146730 (e-PCR)
- UniSTS:175399

NoName (e-PCR)
- UniSTS:482346

D6S292 (e-PCR)
- UniSTS:6448

D8S2279 (e-PCR)
- UniSTS:473907

NoName (e-PCR)
- UniSTS:480592

D6S292 (e-PCR)
- UniSTS:6486

SHGC-155469 (e-PCR)
- UniSTS:184406

RH103554 (e-PCR)
- UniSTS:97879

RH123421 (e-PCR)
- UniSTS:135796

SHGC-79951 (e-PCR)
- UniSTS:101516

SHGC-77945 (e-PCR)
- UniSTS:96177

SHGC-110018 (e-PCR)
- UniSTS:170198

WI-16404 (e-PCR)
- UniSTS:11519

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-GMP phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cAMP catabolic process	IEA Inferred from Electronic Annotation more info
involved_in cAMP-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
involved_in cAMP-mediated signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in chemical synaptic transmission	TAS Traceable Author Statement more info	PubMed
involved_in signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
is_active_in cytosol	IBA Inferred from Biological aspect of Ancestor more info
located_in cytosol	TAS Traceable Author Statement more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
is_active_in perinuclear region of cytoplasm	IBA Inferred from Biological aspect of Ancestor more info
located_in synapse	IEA Inferred from Electronic Annotation more info

General protein information

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Preferred Names: 3',5'-cyclic-AMP phosphodiesterase 7B

Names: cAMP-specific 3',5'-cyclic phosphodiesterase 7B; cAMP-specific phosphodiesterase 7B; high-affinity cAMP-specific 3',5'-cyclic phosphodiesterase; rolipram-insensitive phosphodiesterase type 7

NP_061818.1

EC 3.1.4.53

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_011994.1 RefSeqGene

Range

5006..348879

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_018945.4 → NP_061818.1 3',5'-cyclic-AMP phosphodiesterase 7B

Status: REVIEWED

Source sequence(s)

AB038040, AJ251860, AL138828

Consensus CDS

CCDS5175.1

UniProtKB/Swiss-Prot

Q5W154, Q9NP56

UniProtKB/TrEMBL

A8K3G7

Related

ENSP00000310661.6, ENST00000308191.11

Conserved Domains (1) summary

pfam00233
Location:172 → 392

PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase