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Aliases for PRPH Gene

Aliases for PRPH Gene

  • Peripherin 2 3 3 5
  • PRPH1 3 4
  • NEF4 3 4
  • Neurofilament 4 (57kD) 3
  • Neurofilament 4 4

External Ids for PRPH Gene

Previous HGNC Symbols for PRPH Gene

  • NEF4

Previous GeneCards Identifiers for PRPH Gene

  • GC12M049560
  • GC12P049720
  • GC12P049405
  • GC12P047975
  • GC12P047973
  • GC12P049687
  • GC12P046719

Summaries for PRPH Gene

Entrez Gene Summary for PRPH Gene

  • This gene encodes a cytoskeletal protein found in neurons of the peripheral nervous system. The encoded protein is a type III intermediate filament protein with homology to other cytoskeletal proteins such as desmin, and is a different protein that the peripherin found in photoreceptors. Mutations in this gene have been associated with susceptibility to amyotrophic lateral sclerosis. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRPH Gene

PRPH (Peripherin) is a Protein Coding gene. Diseases associated with PRPH include Amyotrophic Lateral Sclerosis 1 and Lateral Sclerosis. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Cytoskeleton remodeling Neurofilaments. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is DES.

UniProtKB/Swiss-Prot for PRPH Gene

  • Class-III neuronal intermediate filament protein.

Gene Wiki entry for PRPH Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PRPH Gene

Genomics for PRPH Gene

Regulatory Elements for PRPH Gene

Enhancers for PRPH Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH12F049200 1.6 FANTOM5 Ensembl ENCODE 10.7 -91.8 -91766 3.0 PKNOX1 FEZF1 FOS JUNB TBX21 SMARCB1 SMARCA4 GLIS1 MYNN STAT3 PRPH LMBR1L ENSG00000274017 ENSG00000258101
GH12F048865 1.4 Ensembl ENCODE 10.9 -426.9 -426923 2.4 PKNOX1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 ZNF2 YY1 SLC30A9 FOS DDX23 LOC390314 KANSL2 CCNT1 BCDIN3D SENP1 ENSG00000257964 PRPF40B LOC100422296 LOC101927267
GH12F050246 1.4 Ensembl ENCODE 10.8 +958.2 958199 10.5 HDGF PKNOX1 ARNT SIN3A FEZF1 ZNF2 ZNF143 FOS SP3 SP5 BCDIN3D ATF1 ENSG00000257298 LIMA1 LOC101927267 PRPF40B ENSG00000257964 CERS5 FAM186B LOC100422296
GH12F049263 1.2 ENCODE 12 -26.7 -26724 6.6 CREB3L1 DMAP1 YY1 ZNF143 ZNF263 SP3 NFYC TBX21 ZFP41 MEF2D CCNT1 DDX23 KANSL2 LOC390314 PRKAG1 C1QL4 BCDIN3D CACNB3 CERS5 PRPH
GH12F049243 1 Ensembl ENCODE 10.8 -48.0 -47976 3.4 BCOR HDGF LEF1 TAL1 ZMYM3 ZNF664 ZNF366 NCOR1 POLR2A PATZ1 TUBA1C TUBA1A PRPH KMT2D C1QL4 LOC105369760 ENSG00000258101 ENSG00000274017
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PRPH on UCSC Golden Path with GeneCards custom track

Genomic Location for PRPH Gene

Chromosome:
12
Start:
49,293,252 bp from pter
End:
49,298,698 bp from pter
Size:
5,447 bases
Orientation:
Plus strand

Genomic View for PRPH Gene

Genes around PRPH on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPH Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPH Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPH Gene

Proteins for PRPH Gene

  • Protein details for PRPH Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P41219-PERI_HUMAN
    Recommended name:
    Peripherin
    Protein Accession:
    P41219
    Secondary Accessions:
    • Q8N577

    Protein attributes for PRPH Gene

    Size:
    470 amino acids
    Molecular mass:
    53651 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for PRPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPH Gene

Post-translational modifications for PRPH Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for PRPH Gene

No data available for DME Specific Peptides for PRPH Gene

Domains & Families for PRPH Gene

Gene Families for PRPH Gene

Suggested Antigen Peptide Sequences for PRPH Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P41219

UniProtKB/Swiss-Prot:

PERI_HUMAN :
  • Belongs to the intermediate filament family.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with PRPH: view

Function for PRPH Gene

Molecular function for PRPH Gene

GENATLAS Biochemistry:
peripherin,neuronal,intermediate filament associated protein (IFAP,type III)
UniProtKB/Swiss-Prot Function:
Class-III neuronal intermediate filament protein.

Gene Ontology (GO) - Molecular Function for PRPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity IEA --
GO:0005515 protein binding IPI 21900206
genes like me logo Genes that share ontologies with PRPH: view
genes like me logo Genes that share phenotypes with PRPH: view

Human Phenotype Ontology for PRPH Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PRPH Gene

MGI Knock Outs for PRPH:

Animal Model Products

miRNA for PRPH Gene

miRTarBase miRNAs that target PRPH

Inhibitory RNA Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for PRPH Gene

Localization for PRPH Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRPH gene
Compartment Confidence
extracellular 5
cytoskeleton 4
nucleus 2
cytosol 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for PRPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament IEA,TAS 1378416
GO:0016020 membrane IDA 19946888
GO:0045098 type III intermediate filament IEA --
GO:0070062 extracellular exosome IDA 23533145
genes like me logo Genes that share ontologies with PRPH: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for PRPH Gene

Pathways & Interactions for PRPH Gene

genes like me logo Genes that share pathways with PRPH: view

Pathways by source for PRPH Gene

1 BioSystems pathway for PRPH Gene
1 KEGG pathway for PRPH Gene
1 GeneGo (Thomson Reuters) pathway for PRPH Gene

Gene Ontology (GO) - Biological Process for PRPH Gene

None

No data available for SIGNOR curated interactions for PRPH Gene

Transcripts for PRPH Gene

Unigene Clusters for PRPH Gene

Peripherin:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRPH Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b · 7c ^ 8 ^ 9 ^ 10
SP1: - -
SP2: - -
SP3: -
SP4:

Relevant External Links for PRPH Gene

GeneLoc Exon Structure for
PRPH
ECgene alternative splicing isoforms for
PRPH

Expression for PRPH Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRPH Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRPH Gene

This gene is overexpressed in Testis (x8.9) and Colon - Sigmoid (x8.0).

Protein differential expression in normal tissues from HIPED for PRPH Gene

This gene is overexpressed in Spinal cord (33.6) and Colon muscle (7.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PRPH Gene



NURSA nuclear receptor signaling pathways regulating expression of PRPH Gene:

PRPH

SOURCE GeneReport for Unigene cluster for PRPH Gene:

Hs.37044
genes like me logo Genes that share expression patterns with PRPH: view

Primer Products

No data available for Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PRPH Gene

Orthologs for PRPH Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRPH Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRPH 34 35
  • 99.93 (n)
dog
(Canis familiaris)
Mammalia PRPH 34 35
  • 93.43 (n)
cow
(Bos Taurus)
Mammalia PRPH 34 35
  • 92.57 (n)
oppossum
(Monodelphis domestica)
Mammalia PRPH 35
  • 91 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPH 35
  • 91 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Prph 34
  • 90.72 (n)
mouse
(Mus musculus)
Mammalia Prph 34 16 35
  • 89.61 (n)
chicken
(Gallus gallus)
Aves -- 35
  • 48 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia PRPH 35
  • 80 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prph 34
  • 67.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia plasticin-prov 34
zebrafish
(Danio rerio)
Actinopterygii prph 34 35
  • 67.15 (n)
plasticin 34
Species where no ortholog for PRPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRPH Gene

ENSEMBL:
Gene Tree for PRPH (if available)
TreeFam:
Gene Tree for PRPH (if available)

Paralogs for PRPH Gene

Variants for PRPH Gene

Sequence variations from dbSNP and Humsavar for PRPH Gene

SNP ID Clin Chr 12 pos Sequence Context AA Info Type
rs58599399 other 49,295,621(+) GCGCC(G/T)ACCAG nc-transcript-variant, reference, missense
rs112146976 untested 49,297,620(+) CGGGA(A/C)TGGGC intron-variant, nc-transcript-variant
rs200141011 untested 49,297,604(+) CGGGG(A/C)AGGGC intron-variant, nc-transcript-variant
rs2070760 untested 49,296,554(+) GGCGG(C/T)TTCTG intron-variant, nc-transcript-variant
rs2236746 untested 49,297,784(+) GGCTC(C/T)TGCTC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PRPH Gene

Variant ID Type Subtype PubMed ID
dgv1497n100 CNV gain 25217958
dgv274e214 CNV gain 21293372
esv25113 CNV gain 19812545
esv3581571 CNV gain 25503493
nsv558834 CNV gain 21841781
nsv826367 CNV gain 20364138

Variation tolerance for PRPH Gene

Residual Variation Intolerance Score: 15.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.81; 58.43% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PRPH Gene

Human Gene Mutation Database (HGMD)
PRPH
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRPH

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPH Gene

Disorders for PRPH Gene

MalaCards: The human disease database

(2) MalaCards diseases for PRPH Gene - From: OMIM, Orphanet, and GeneCards

Disorder Aliases PubMed IDs
amyotrophic lateral sclerosis 1
  • amyotrophic lateral sclerosis
lateral sclerosis
  • motor neuron disease
- elite association - COSMIC cancer census association via MalaCards
Search PRPH in MalaCards View complete list of genes associated with diseases

Relevant External Links for PRPH

Genetic Association Database (GAD)
PRPH
Human Genome Epidemiology (HuGE) Navigator
PRPH
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PRPH
genes like me logo Genes that share disorders with PRPH: view

No data available for UniProtKB/Swiss-Prot and Genatlas for PRPH Gene

Publications for PRPH Gene

  1. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. (PMID: 15322088) Gros-Louis F. … Julien J.P. (J. Biol. Chem. 2004) 3 46 64
  2. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64
  3. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. (PMID: 11835375) Boerkoel C.F. … Lupski J.R. (Ann. Neurol. 2002) 3 46 64
  4. The structure of the human peripherin gene (PRPH) and identification of potential regulatory elements. (PMID: 7806235) Foley J. … Parysek L.M. (Genomics 1994) 3 4 64
  5. Chromosomal localisation of the mouse and human peripherin genes. (PMID: 1378416) Moncla A. … Portier M.M. (Genet. Res. 1992) 2 3 64

Products for PRPH Gene

Sources for PRPH Gene

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