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Prph Gene Detail
Summary
  • Symbol
    Prph
  • Name
    peripherin
  • Synonyms
    Prph1
  • Feature Type
    protein coding gene
  • IDs
    MGI:97774
    NCBI Gene: 19132
  • Gene Overview
    MyGene.info: PRPH
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr15:99055174-99058978 bp, + strand
  • From Ensembl annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      3805 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 15, 55.72 cM, cytoband E-F
  • Mapping Data
    5 experiments
  • Sequence Tag
Homology
more
  • Human Ortholog
    PRPH, peripherin
  • Vertebrate Orthologs
    9
  • Human Ortholog
    PRPH, peripherin
    Orthology source: HomoloGene, HGNC
  • Synonyms
    NEF4, PRPH1
  • Links
    NCBI Gene ID: 5630
    neXtProt AC: NX_P41219
    UniProt: P41219

  • Chr Location
    12q13.12; chr12:49295013-49298698 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 4559
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: PRPH
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with human PRPH associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    3 phenotypes from 1 allele in 1 genetic background
    28 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous null mice showed no overt phenotype up to 14 months of age. While overall structure, number, and caliber of large myelinated axons was normal, mice had reduced numbers of a small subset of unmelinated sensory axons.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
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 death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000023484 Ensembl Gene Model | MGI Sequence Detail 3805 C57BL/6J ±  kb
transcript ENSMUST00000047104 Ensembl | MGI Sequence Detail 1863 Not Applicable  
polypeptide ENSMUSP00000049303 Ensembl | MGI Sequence Detail 507 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    42 from dbSNP Build 142
  • RFLP
Protein
Information
less
  • UniProt
    5 Sequences
  • InterPro Domains
    IPR006821 Intermediate filament head, DNA-binding domain
    IPR001664 Intermediate filament protein
    IPR018039 Intermediate filament protein, conserved site
    IPR039008 Intermediate filament, rod domain
    IPR002957 Keratin, type I
    IPR027700 Peripherin/Plasticin
Molecular
Reagents
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  • All nucleic 23
    Genomic 1
    cDNA 18
    Primer pair 3
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-13628
References
more
  • Summaries
    All 219
    Developmental Gene Expression 150
    Diseases 1
    Gene Ontology 12
    Phenotypes 28
  • Earliest
    J:7688 Lane PW, et al., Association of megacolon with a new dominant spotting gene (Dom) in the mouse. J Hered. 1984 Nov-Dec;75(6):435-9
  • Latest
    J:260151 Ito K, et al., Lack of Fgf18 causes abnormal clustering of motor nerve terminals at the neuromuscular junction with reduced acetylcholine receptor clusters. Sci Rep. 2018 Jan 11;8(1):434

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
10/09/2018
MGI 6.12
The Jackson Laboratory