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Prph2 Gene Detail
Summary
  • Symbol
    Prph2
  • Name
    peripherin 2
  • Synonyms
    Nmf193, Rd2, rds, Tspan22
  • Feature Type
    protein coding gene
  • IDs
    MGI:102791
    NCBI Gene: 19133
  • Alliance
    gene page
  • Transcription Start Sites
    5 TSS
Location &
Maps
more
  • Sequence Map
    Chr17:47221404-47235859 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 17, 22.91 cM
  • Mapping Data
    15 experiments
Strain
Comparison
more
  • SNPs within 2kb
    677 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_102791
 protein coding gene Chr17:47221385-47235859 (+)
129S1/SvImJ MGP_129S1SvImJ_G0023838
 protein coding gene Chr17:48020707-48035191 (+)
A/J MGP_AJ_G0023796
 protein coding gene Chr17:46854853-46869112 (+)
AKR/J MGP_AKRJ_G0023767
 protein coding gene Chr17:47210881-47226892 (+)
BALB/cJ MGP_BALBcJ_G0023800
 protein coding gene Chr17:46751764-46769760 (+)
C3H/HeJ MGP_C3HHeJ_G0023563
 protein coding gene Chr17:47954850-47970983 (+)
C57BL/6NJ MGP_C57BL6NJ_G0024243
 protein coding gene Chr17:50072564-50086954 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0021693
 protein coding gene Chr17:43617894-43634671 (+)
CAST/EiJ MGP_CASTEiJ_G0023045
 protein coding gene Chr17:48052444-48079278 (+)
CBA/J MGP_CBAJ_G0023540
 protein coding gene Chr17:51893725-51910925 (+)
DBA/2J MGP_DBA2J_G0023666
 protein coding gene Chr17:45615262-45631700 (+)
FVB/NJ MGP_FVBNJ_G0023633
 protein coding gene Chr17:45248571-45263650 (+)
LP/J MGP_LPJ_G0023747
 protein coding gene Chr17:48690394-48709493 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0023662
 protein coding gene Chr17:51414584-51430830 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0024288
 protein coding gene Chr17:47574554-47591968 (+)
PWK/PhJ MGP_PWKPhJ_G0022789
 protein coding gene Chr17:44963378-44984142 (+)
SPRET/EiJ MGP_SPRETEiJ_G0022605
 protein coding gene Chr17:44462496-44479290 (+)
WSB/EiJ MGP_WSBEiJ_G0023110
 protein coding gene Chr17:48141490-48156089 (+)



Homology
more
  • Human Ortholog
    PRPH2, peripherin 2
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    PRPH2, peripherin 2
  • Synonyms
    AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, rd2, RDS, RP7, TSPAN22
  • Links
    NCBI Gene ID: 5961
    neXtProt AC: NX_P23942
    UniProt: P23942

  • Chr Location
    6p21.1; chr6:42696598-42722597 (-)  GRCh38
Human Diseases
more
  • Diseases
    3 with Prph2 mouse models; 10 with human PRPH2 associations

Human Disease Mouse Models
      
IDs
 View 4 models
IDs
 View 3 models
      
IDs
 View 2 models
      
IDs
IDs
IDs
IDs
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    5 with disease annotations
  • References
    5 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    53 phenotypes from 6 alleles in 12 genetic backgrounds
    4 phenotypes from multigenic genotypes
    132 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
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.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    23
  • GO References
    10
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    749
  • Tissues
    17
  • cDNA Data
    59
  • Literature Summary
    13
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 19133 NCBI Gene Model | MGI Sequence Detail 14456 C57BL/6J ±  kb
    transcript NM_008938 RefSeq | MGI Sequence Detail 2662 ZRU/MplStud  
    polypeptide P15499 UniProt | EBI | MGI Sequence Detail 346 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 80
      Genomic 17
      cDNA 60
      Primer pair 3

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-13809, MGD-MRK-13812, MGD-MRK-13816, MGD-MRK-13817, MGD-MRK-19699, MGI:3038636
    References
    more
    • Summaries
      All 205
      Developmental Gene Expression 13
      Diseases 5
      Gene Ontology 10
      Phenotypes 132
    • 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:352330 Vasudevan S, et al., Aggregation of rhodopsin mutants in mouse models of autosomal dominant retinitis pigmentosa. Nat Commun. 2024 Feb 16;15(1):1451
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    12/17/2024
    MGI 6.24     		The Jackson Laboratory