Pde6h phosphodiesterase 6H, cGMP-specific, cone, gamma [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Pde6hprovided by MGI
Official Full Name: phosphodiesterase 6H, cGMP-specific, cone, gammaprovided by MGI
Primary source: MGI:MGI:1925850
See related: Ensembl:ENSMUSG00000064330 AllianceGenome:MGI:1925850
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: PDEgamma; A930033D18Rik
Summary: Predicted to enable cGMP binding activity; calmodulin-activated 3',5'-cyclic-GMP phosphodiesterase activity; and calmodulin-activated dual specificity 3',5'-cyclic-GMP, 3',5'-cyclic-AMP phosphodiesterase activity. Acts upstream of or within positive regulation of G protein-coupled receptor signaling pathway; positive regulation of MAPK cascade; and positive regulation of epidermal growth factor receptor signaling pathway. Predicted to be active in photoreceptor outer segment membrane. Is expressed in retina and retina outer nuclear layer. Human ortholog(s) of this gene implicated in retinal cone dystrophy 3A. Orthologous to human PDE6H (phosphodiesterase 6H). [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:: 6 G1; 6 66.72 cM

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	6	NC_000072.7 (136929216..136940483)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	6	NC_000072.6 (136952218..136963485)

Chromosome 6 - NC_000072.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

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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?

Pde6h deficiency mice suggests no defects in cone/rod-driven retinal signaling and therefore preserved visual functions.
Title: Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory.
The interdependency of phosphorylation of T22 and T35 suggests that light-induced, post-translational modification of PDE6gamma is essential for the regulation of G-protein signaling.
Title: Light-dependent phosphorylation of the gamma subunit of cGMP-phophodiesterase (PDE6gamma) at residue threonine 22 in intact photoreceptor neurons.
This experiments provide evidence for modulation of Pde6h dependent response turnoff in mouse rod photoreceptors.
Title: Modulation of phosphodiesterase6 turnoff during background illumination in mouse rod photoreceptors.
Our results show that the PDE6gamma binding sites of PDE6 alpha and beta are accessible to excess (presumably cytoplasmic) PDE6gamma in the light, once endogenous PDE6gamma has been displaced from its binding site by Talpha-GTP.
Title: GAP-independent termination of photoreceptor light response by excess gamma subunit of the cGMP-phosphodiesterase.

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Variation

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Alleles

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

Endonuclease-mediated (1)
Targeted (1) 1 citation

General gene information

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Markers

D10Mit157.2 (e-PCR), detects polymorphism
- UniSTS:126061

NoName (e-PCR)
- UniSTS:493027

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables cGMP binding	IEA Inferred from Electronic Annotation 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

Process	Evidence Code	Pubs
involved_in positive regulation of G protein-coupled receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of G protein-coupled receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within positive regulation of MAPK cascade	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of epidermal growth factor receptor signaling pathway	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within positive regulation of epidermal growth factor receptor signaling pathway	IDA Inferred from Direct Assay more info	PubMed
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
is_active_in photoreceptor outer segment membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

Names: GMP-PDE gamma; cone phosphodiesterase 6 gamma; cone-like cGMP-phosphodiesterase 6 gamma subunit type 2

NP_076387.2

EC 3.1.4.35

XP_006506836.1

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_023898.4 → NP_076387.2 retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma

See identical proteins and their annotated locations for NP_076387.2

Status: VALIDATED

Source sequence(s)

AK020922, BE983779

Consensus CDS

CCDS39686.1

UniProtKB/Swiss-Prot

P61249, Q14BP9, Q9D1Y6, Q9EP63

UniProtKB/TrEMBL

A0A0N4SVP6

Related

ENSMUSP00000119246.2, ENSMUST00000137768.2

Conserved Domains (1) summary

pfam04868
Location:14 → 83

PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J

Genomic

NC_000072.7 Reference GRCm39 C57BL/6J

Range

136929216..136940483

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_006506773.3 → XP_006506836.1 retinal cone rhodopsin-sensitive cGMP 3',5'-cyclic phosphodiesterase subunit gamma isoform X1

See identical proteins and their annotated locations for XP_006506836.1

UniProtKB/Swiss-Prot

P61249, Q14BP9, Q9D1Y6, Q9EP63

UniProtKB/TrEMBL

A0A0N4SVP6

Conserved Domains (1) summary

pfam04868
Location:14 → 83

PDE6_gamma; Retinal cGMP phosphodiesterase, gamma subunit