Prph2 peripherin 2 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Prph2provided by MGI
Official Full Name: peripherin 2provided by MGI
Primary source: MGI:MGI:102791
See related: Ensembl:ENSMUSG00000023978 AllianceGenome:MGI:102791
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: RP7; Rd2; Rds; rds; AVMD; PRPH; Rd-2; AOFMD; Nmf193; Tspan22
Summary: Enables protein homodimerization activity. Acts upstream of or within several processes, including detection of light stimulus involved in visual perception; photoreceptor cell outer segment organization; and protein complex oligomerization. Located in photoreceptor outer segment. Is expressed in eye; head; retina; and retina outer nuclear layer. Used to study patterned macular dystrophy 1 and retinitis pigmentosa 7. Human ortholog(s) of this gene implicated in Leber congenital amaurosis; eye degenerative disease (multiple); and fundus albipunctatus. Orthologous to human PRPH2 (peripherin 2). [provided by Alliance of Genome Resources, Apr 2022]
Expression: Restricted expression toward testis adult (RPKM 1.3) See more
Orthologs: human all
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Genomic context

Location:: 17 C; 17 22.91 cM

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	17	NC_000083.7 (47221404..47235859)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	17	NC_000083.6 (46910478..46924933)

Chromosome 17 - NC_000083.7 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?

ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.
Title: ROM1 is redundant to PRPH2 as a molecular building block of photoreceptor disc rims.
Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.
Title: Prph2 knock-in mice recapitulate human central areolar choroidal dystrophy retinal degeneration and exhibit aberrant synaptic remodeling and microglial activation.
PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
Title: PRPF31 interacts with PRPH2 confirmed by co-immunoprecipitation and co-localization.
Photoreceptor Disc Enclosure Is Tightly Controlled by Peripherin-2 Oligomerization.
Title: Photoreceptor Disc Enclosure Is Tightly Controlled by Peripherin-2 Oligomerization.
ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Title: ROM1 contributes to phenotypic heterogeneity in PRPH2-associated retinal disease.
Syntaxin 3 is essential for photoreceptor outer segment protein trafficking and survival.
Title: Syntaxin 3 is essential for photoreceptor outer segment protein trafficking and survival.
Novel molecular mechanisms for Prph2-associated pattern dystrophy.
Title: Novel molecular mechanisms for Prph2-associated pattern dystrophy.
The Late Endosomal Pathway Regulates the Ciliary Targeting of Tetraspanin Protein Peripherin 2.
Title: The Late Endosomal Pathway Regulates the Ciliary Targeting of Tetraspanin Protein Peripherin 2.
PRPH2_c.668T > A provided a molecular explanation of retinitis pigmentosa symptomatology, highlighting the clinical utility of NGS panels to facilitate genotype-phenotype correlations.
Title: NGS Analysis for Molecular Diagnosis of Retinitis Pigmentosa (RP): Detection of a Novel Variant in PRPH2 Gene.
Experiments evaluating Prph2 trafficking show that Rom1 is a key determinant of whether Prph2 complexes utilize conventional versus unconventional (Golgi bypass) secretory pathways to reach the OS.
Title: Prph2 initiates outer segment morphogenesis but maturation requires Prph2/Rom1 oligomerization.

Submit: New GeneRIF Correction See all GeneRIFs (42)

Variation

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Alleles

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

Spontaneous (1)
Targeted (7) 1 citation
Chemically induced (ENU) (1)
Endonuclease-mediated (4) 1 citation

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

X14770 (e-PCR)
- UniSTS:163589

NoName (e-PCR)
- UniSTS:225036

Gene Ontology Provided by MGI

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

Process	Evidence Code	Pubs
acts_upstream_of_or_within cell adhesion	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within detection of light stimulus involved in visual perception	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within detection of light stimulus involved in visual perception	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within photoreceptor cell outer segment organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within protein heterooligomerization	IPI Inferred from Physical Interaction more info	PubMed
acts_upstream_of_or_within protein homooligomerization	IPI Inferred from Physical Interaction more info	PubMed
involved_in protein localization to plasma membrane	IBA Inferred from Biological aspect of Ancestor more info
involved_in protein maturation	IBA Inferred from Biological aspect of Ancestor more info
acts_upstream_of_or_within response to stimulus	IEA Inferred from Electronic Annotation more info
acts_upstream_of_or_within retina development in camera-type eye	IGI Inferred from Genetic Interaction more info	PubMed
acts_upstream_of_or_within retina development in camera-type eye	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within visual perception	IEA Inferred from Electronic Annotation more info
involved_in visual perception	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in cell projection	IEA Inferred from Electronic Annotation more info
located_in membrane	IEA Inferred from Electronic Annotation more info
located_in photoreceptor outer segment	IDA Inferred from Direct Assay more info	PubMed
is_active_in plasma membrane	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: peripherin-2

Names: retinal degeneration 2; retinal degeneration slow protein; retinal degeneration, slow (retinitis pigmentosa 7)

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_008938.2 → NP_032964.1 peripherin-2

See identical proteins and their annotated locations for NP_032964.1

Status: VALIDATED

Source sequence(s)

AK044549, BE950297, X14770

Consensus CDS

CCDS28844.1

UniProtKB/Swiss-Prot

P15499

UniProtKB/TrEMBL

Q3UWK3, Q8C8S8

Related

ENSMUSP00000024773.6, ENSMUST00000024773.6

Conserved Domains (3) summary

cd03162
Location:120 → 262

peripherin_like_LEL; Tetraspanin, extracellular domain or large extracellular loop (LEL), peripherin_like family. Tetraspanins are trans-membrane proteins with 4 trans-membrane segments. Both the N- and C-termini lie on the intracellular side of the membrane. This alignment ...

pfam00335
Location:20 → 277

Tetraspannin; Tetraspanin family

cl04176
Location:58 → 123

TDT; The Tellurite-resistance/Dicarboxylate Transporter (TDT) family