About   Help   FAQ
Prph2
Gene Detail
Symbol

Name
ID
Prph2
peripherin 2
MGI:102791
Synonyms
Nmf193, Rd2, rds, Tspan22
Feature Type
protein coding gene
Genetic Map
Chromosome 17
22.91 cM
Detailed Genetic Map ± 1 cM


Mapping data(15)
Sequence Map
Chr17:46910459-46924933 bp, + strand
From VEGA annotation of GRCm38

  14475 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:273  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 2 zebrafish

Protein SuperFamily: retinal degeneration slow protein
Gene Tree: Prph2

Human
homologs
Human Homolog   PRPH2, peripherin 2 (retinal degeneration, slow)
NCBI Gene ID 5961
neXtProt AC  NX_P23942
Human Synonyms  AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, rd2, RDS, RP7, TSPAN22
Human Chr (Location)  6p21.1; chr6:42696595-42722989 (-)  GRCh38.p2
Disease Associations  (5) Diseases Associated with Human PRPH2
Mutations,
alleles, and
phenotypes
All mutations/alleles(7) : Chemically induced (ENU)(1) Gene trapped(1) Spontaneous(1) Targeted(4)
Incidental mutations (data from Mutagenetix , APF )
 
Mice homozygous for a spontaneous mutation display slow retinal degeneration with thinning and loss of the outer nuclear layer, loss of photoreceptor outer segments, and increased numbers of Muller cells. Heterozygous mice also display retinal degeneration and Muller cell gliosis.
 
Human Diseases Modeled in Mice Using Prph2 (1)    Mutations Annotated to Human Diseases (2)   
Interactions
Prph2 interacts with 170 markers (Mir15a, Mir18, Mir19a, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (8 annotations)
Process cell adhesion, retina development in camera-type eye, ...
Component integral component of membrane, membrane, ...
External Resources: FuncBase
Expression
Literature Summary: (6 records)
Data Summary: Results (37)    Tissues (17)    Images (21)    Tissue x Stage Matrix (view)
Assay TypeResults
RNA in situ 12
Northern blot 13
RT-PCR 7
RNase protection 5
cDNA source data(58)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(77) Genomic(17) cDNA(59) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000034269 (Evidence)
Ensembl Gene ModelENSMUSG00000023978 (Evidence)
Entrez Gene19133 (Evidence)
UniGene291370
DFCITC1605523, TC1592031, TC1578198
DoTSDT.101247424, DT.87047665, DT.94290817, DT.91335786
NIA Mouse Gene IndexU018051
Consensus CDS ProjectCCDS28844.1
International Mouse Knockout Project StatusPrph2
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000034269 VEGA Gene Model | MGI Sequence Detail 14475 C57BL/6J ±  kb
transcript OTTMUST00000087082 VEGA | MGI Sequence Detail 2665 Not Applicable 
polypeptide OTTMUSP00000047219 VEGA | MGI Sequence Detail 346 Not Applicable 

For the selected sequences
All sequences(29) RefSeq(2) UniProt(3)
Polymorphisms
RFLP(3) : SNPs within 2kb(60 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR000830 Peripherin/rom-1
InterPro IPR018498 Peripherin/rom-1, conserved site
InterPro IPR008952 Tetraspanin, EC2 domain
InterPro IPR018499 Tetraspanin/Peripherin
Protein Ontology PR:000013290 peripherin-2
References
(Earliest) J:6051 van Nie R, et al., A new H-2-linked mutation, rds, causing retinal degeneration in the mouse. Tissue Antigens. 1978 Aug;12(2):106-8
(Latest) J:216633 Conley SM, et al., Rim formation is not a prerequisite for distribution of cone photoreceptor outer segment proteins. FASEB J. 2014 Aug;28(8):3468-79
All references(152)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-13809, MGD-MRK-13812, MGD-MRK-13816, MGD-MRK-13817, MGD-MRK-19699, MGI:3038636

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/21/2015
MGI 5.21
The Jackson Laboratory