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; 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, PRPH, rd2, RDS, RP7, TSPAN22
Human Chr (Location)		6p21.2-p12.3; chr6:42664333-42690358 (-)  GRCh37.p10
Disease Associations		(5) Diseases Associated with Human PRPH2

Alleles and phenotypes

All alleles(7) : Targeted(4) Gene trapped(1) Spontaneous(1) Chemically induced(1)
 

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 Using Mouse Prph2 (2)    Alleles Annotated to Human Diseases(2)   

Gene Ontology (GO) classifications

All GO classifications: (7 annotations)

Process	cell adhesion, retina development in camera-type eye, ...
Component	integral to membrane, membrane

External Resources: FuncBase

Expression

Literature Summary: (5 records)
Data Summary: Results (37)    Tissues (15)    Images (21)
Theiler Stages: 16, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
RNA in situ	12
Northern blot	13
RT-PCR	7
RNase protection	5

cDNA source data(62)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(81) Genomic(17) cDNA(63) Primer pair(1)
Microarray probesets(3)

Other database links

VEGA Gene Model	OTTMUSG00000034269 (Evidence)
Ensembl Gene Model	ENSMUSG00000023978 (Evidence)
Entrez Gene	19133 (Evidence)
UniGene	291370
DFCI	TC1578198, TC1592031, TC1605523
DoTS	DT.101247424, DT.87047665, DT.91335786, DT.94290817
NIA Mouse Gene Index	U018051
Consensus CDS Project	CCDS28844.1
International Mouse Knockout Project Status	Prph2

Sequences

Length	Strain/Species
genomic	OTTMUSG00000034269	VEGA Gene Model | MGI Sequence Detail	14475	C57BL/6J
transcript	OTTMUST00000087082	VEGA | MGI Sequence Detail	2665	Not Applicable
polypeptide	OTTMUSP00000047219	VEGA | MGI Sequence Detail	346	Not Applicable

All sequences(29) RefSeq(2) UniProt(3)

Polymorphisms

RFLP(3) : SNPs(34 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:192521 Barber AC, et al., Repair of the degenerate retina by photoreceptor transplantation. Proc Natl Acad Sci U S A. 2013 Jan 2;110(1):354-9
All references(145)

Other accession IDs

MGD-MRK-13809, MGD-MRK-13812, MGD-MRK-13816, MGD-MRK-13817, MGD-MRK-19699, MGI:3038636