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Prph2 peripherin 2 [ Mus musculus (house mouse) ]

Gene ID: 19133, updated on 7-Feb-2023

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
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Genomic context

See Prph2 in Genome Data Viewer
Location:
17 C; 17 22.91 cM
Exon count:
3
Annotation release Status Assembly Chr Location
109 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_000083.7Genomic Context describing neighboring genes Neighboring gene BRD4 interacting chromatin remodeling complex associated protein like Neighboring gene tubulin-specific chaperone C Neighboring gene ubiquitin protein ligase E3 component n-recognin 2 Neighboring gene non-histone chromosomal protein HMG-17 pseudogene

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Spontaneous (1) 
  • Targeted (7)  1 citation
  • Chemically induced (ENU) (1) 
  • Endonuclease-mediated (2) 

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

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
PubMed 
involved_in protein maturation IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
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
PubMed 

General protein information

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)

  1. NM_008938.2NP_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
    Related
    ENSMUSP00000024773.6, ENSMUST00000024773.6
    Conserved Domains (3) summary
    cd03162
    Location:120262
    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:20277
    Tetraspannin; Tetraspanin family
    cl04176
    Location:58123
    TDT; The Tellurite-resistance/Dicarboxylate Transporter (TDT) family

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000083.7 Reference GRCm39 C57BL/6J

    Range
    47221404..47235859
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)