Pde6b phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pde6bprovided by MGI
Official Full Name: phosphodiesterase 6B, cGMP, rod receptor, beta polypeptideprovided by MGI
Primary source: MGI:MGI:97525
See related: Ensembl:ENSMUSG00000029491 AllianceGenome:MGI:97525
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: r; rd; rd1; Pdeb; rd-1; rd10
Summary: Predicted to enable 3',5'-cyclic-AMP phosphodiesterase activity and 3',5'-cyclic-GMP phosphodiesterase activity. Involved in entrainment of circadian clock by photoperiod. Acts upstream of or within detection of light stimulus and retina development in camera-type eye. Located in photoreceptor outer segment. Is expressed in esophagus; eye; and male reproductive gland or organ. Used to study congenital stationary night blindness autosomal dominant 2; retinal degeneration; retinitis pigmentosa; and retinitis pigmentosa 40. Human ortholog(s) of this gene implicated in congenital stationary night blindness autosomal dominant 2 and retinitis pigmentosa 40. Orthologous to human PDE6B (phosphodiesterase 6B). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Low expression observed in reference dataset See more
Orthologs: human all
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Genomic context

Location:: 5 F; 5 53.07 cM

Exon count:: 22

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	5	NC_000071.7 (108536239..108579609)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	5	NC_000071.6 (108388373..108431743)

Chromosome 5 - NC_000071.7 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: Mouse ENCODE transcriptome data
Description: RNA profiling data sets generated by the Mouse ENCODE project.
BioProject: PRJNA66167
Publication: PMID 25409824
Analysis date: n/a

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

a simple and effective PCR based method for genotyping rd1 (Pde6b) and rd8 (Crb1) in mice.
Title: Genotyping single point mutations in rd1 and rd8 mice using melting curve analysis of qPCR fragments.
The m[6]A reader YTHDC2 maintains visual function and retinal photoreceptor survival through modulating translation of PPEF2 and PDE6B.
Title: The m(6)A reader YTHDC2 maintains visual function and retinal photoreceptor survival through modulating translation of PPEF2 and PDE6B.
PKM2 can regulate transcriptional activity of PDE6B via its promoter in a mouse retinal degeneration model.
Title: Pyruvate kinase M2 regulates photoreceptor structure, function, and viability.
Retinal degeneration was slowed down in Cngb1/Pde6b double knock-out mice due to lowering of cGMP content in the retinas, and suggests that it may be caused by mislocalization of active Pde6b.
Title: The PDE6 mutation in the rd10 retinal degeneration mouse model causes protein mislocalization and instability and promotes cell death through increased ion influx.
The retinal degeneration (rd) mutant mouse, which carries a genetic mutation of PDE6b.
Title: Neurotoxicity of cGMP in the vertebrate retina: from the initial research on rd mutant mice to zebrafish genetic approaches.
These results clearly show that the development of early-onset cataracts requires at least two mutant alleles of Foxe3(rct) and Pde6b(rd1), and another modifier associated with the severity of cataract phenotypes in Foxe3(rct) mice underlies the genetic backgrounds in mice.
Title: Pde6b(rd1) mutation modifies cataractogenesis in Foxe3(rct) mice.
demonstrated a substantial difference in the speed of retinal degeneration and accompanying loss of visual function between two rd1 lines
Title: Variable phenotypic expressivity in inbred retinal degeneration mouse lines: A comparative study of C3H/HeOu and FVB/N rd1 mice.
transient and Pde6-independent Ca(2+) elevations ('flashes') were detected throughout the inner segment and the synapse.
Title: Loss of Pde6 reduces cell body Ca(2+) transients within photoreceptors.
Polyglutamine expansion AR sequesters PTIP to attenuate DNA repair and increase genomic instability.
Title: A polyglutamine expansion disease protein sequesters PTIP to attenuate DNA repair and increase genomic instability.
There are distinct changes that occur in the morphology of retinal pigment epithelium cells in response to retinal degeneration in rd10 mice.
Title: Analysis of the RPE sheet in the rd10 retinal degeneration model.

Submit: New GeneRIF Correction See all GeneRIFs (23)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Chemically induced (ENU) (9) 1 citation
Endonuclease-mediated (6)
Spontaneous (4) 1 citation
Targeted (3) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pde6b (e-PCR), detects polymorphism
- UniSTS:144148

X55968 (e-PCR)
- UniSTS:179225

Pde6b (e-PCR), detects polymorphism
- UniSTS:546925

Pde6b (e-PCR), detects polymorphism
- UniSTS:536459

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables 3',5'-cyclic-AMP phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables 3',5'-cyclic-GMP phosphodiesterase activity	IBA Inferred from Biological aspect of Ancestor more info
enables calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity	IEA Inferred from Electronic Annotation more info
enables calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity	IEA Inferred from Electronic Annotation more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in cAMP-mediated signaling	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within detection of light stimulus	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in entrainment of circadian clock by photoperiod	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retina development in camera-type eye	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in retinal cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in retinal cell apoptotic process	ISO Inferred from Sequence Orthology more info
involved_in signal transduction	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
is_active_in photoreceptor outer segment membrane	IBA Inferred from Biological aspect of Ancestor more info
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

Names: GMP-PDE beta; cGMP-phosphodiesterase beta-subunit; phosphodiesterase, cGMP, rod receptor, beta polypeptide; retinal degeneration 1

NP_032832.2

EC 3.1.4.35

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.

mRNA and Protein(s)

NM_008806.2 → NP_032832.2 rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta

See identical proteins and their annotated locations for NP_032832.2

Status: VALIDATED

Source sequence(s)

AK044364, BE944318, BU505563

Consensus CDS

CCDS19510.1

UniProtKB/Swiss-Prot

P23440, Q80UF0

UniProtKB/TrEMBL

A2VDG2

Related

ENSMUSP00000031456.8, ENSMUST00000031456.8

Conserved Domains (2) summary

smart00065
Location:71 → 230

GAF; Domain present in phytochromes and cGMP-specific phosphodiesterases

pfam00233
Location:556 → 801

PDEase_I; 3'5'-cyclic nucleotide phosphodiesterase