Rd3 retinal degeneration 3 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Rd3provided by MGI
Official Full Name: retinal degeneration 3provided by MGI
Primary source: MGI:MGI:1921273
See related: Ensembl:ENSMUSG00000049353 AllianceGenome:MGI:1921273
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: rd3; rd-3; 3322402L07Rik
Summary: Involved in negative regulation of guanylate cyclase activity and visual perception. Acts upstream of or within retina development in camera-type eye. Located in nucleus; photoreceptor inner segment; and photoreceptor outer segment. Is expressed in brain and sensory organ. Used to study Leber congenital amaurosis 12. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; Leber congenital amaurosis 12; and retinal degeneration. Orthologous to human RD3 (RD3 regulator of GUCY2D). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in testis adult (RPKM 8.7) and lung adult (RPKM 1.0) See more
Orthologs: human all
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Genomic context

Location:: 1 H6; 1 97.09 cM

Exon count:: 6

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (191688574..191725497)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (191956490..191988282)

Chromosome 1 - NC_000067.7 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?

Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
Title: Retinal degeneration-3 protein attenuates photoreceptor degeneration in transgenic mice expressing dominant mutation of human retinal guanylyl cyclase.
Retinal degeneration-3 protein promotes photoreceptor survival by suppressing activation of guanylyl cyclase rather than accelerating GMP recycling.
Title: Retinal degeneration-3 protein promotes photoreceptor survival by suppressing activation of guanylyl cyclase rather than accelerating GMP recycling.
Study describes a mouse model of Leber's Congenital Amaurosis type 1 and 12 with autosomal recessive mutation in rd3 gene. The substitution mutation in the Rd3 gene is predicted to cause a stop codon after residue 106.
Title: Mouse Models as Tools to Identify Genetic Pathways for Retinal Degeneration, as Exemplified by Leber's Congenital Amaurosis.
the main RetGC-binding interface on RD3 required for the negative regulation of the cyclase localizes to the Lys(87)-Leu(122) region.
Title: Functional Study and Mapping Sites for Interaction with the Target Enzyme in Retinal Degeneration 3 (RD3) Protein.
Direct association between RD3 and GCAP1 is important for GC1 targeting.
Title: Impaired association of retinal degeneration-3 with guanylate cyclase-1 and guanylate cyclase-activating protein-1 leads to leber congenital amaurosis-1.
Studies indicate that RD3 plays an essential role in the exit of guanylate cyclase from the endoplasmic reticulum and its trafficking to photoreceptor outer segments.
Title: RD3 gene delivery restores guanylate cyclase localization and rescues photoreceptors in the Rd3 mouse model of Leber congenital amaurosis 12.
Changes in gene expression associated with photoreceptor degeneration in the rd3 mouse model of Leber congenital amaurosis (LCA) type 12, are characterized.
Title: Changes in gene expression associated with retinal degeneration in the rd3 mouse.
photoreceptor degeneration in the rd3 mouse, rcd2 dog, and LCA12 patients is caused by impaired RD3-mediated guanylate cyclase expression and trafficking
Title: RD3, the protein associated with Leber congenital amaurosis type 12, is required for guanylate cyclase trafficking in photoreceptor cells.
Rd3 is preferentially expressed in the retina and exhibits increasing expression through early postnatal development.
Title: Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

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Phenotypes

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Associated conditions

Description	Tests
retinal degeneration 3 GeneReviews: Not available

Variation

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Alleles

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

Endonuclease-mediated (3)
Spontaneous (1) 1 citation

General gene information

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Markers

RH131777 (e-PCR)
- UniSTS:215060

BB278993 (e-PCR)
- UniSTS:207272

NoName (e-PCR)
- UniSTS:492273

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in negative regulation of guanylate cyclase activity	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of guanylate cyclase activity	ISO Inferred from Sequence Orthology more info
involved_in protein transport	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
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 retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in cone photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in cytoplasm	ISO Inferred from Sequence Orthology more info
located_in endosome	IEA Inferred from Electronic Annotation more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	ISO Inferred from Sequence Orthology more info
located_in perinuclear region of cytoplasm	ISO Inferred from Sequence Orthology more info
located_in photoreceptor inner segment	IDA Inferred from Direct Assay more info	PubMed
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
located_in rod photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: protein RD3

Names: retinal degeneration protein 3

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.