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 scle... See more...

Aliases for PRPH Gene

Aliases for PRPH Gene

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

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. Gene Ontology (GO) annotations related to this gene include structural molecule activity. An important paralog of this gene is VIM.

UniProtKB/Swiss-Prot Summary for PRPH Gene

  • Class-III neuronal intermediate filament protein (By similarity). May form an independent structural network without the involvement of other neurofilaments or may cooperate with the neuronal intermediate filament proteins NEFL, NEFH, NEFM and INA to form a filamentous network (PubMed:15446584, PubMed:15322088). Assembly of the neuronal intermediate filaments may be regulated by RAB7A (By similarity). Plays a role in the development of unmyelinated sensory neurons (By similarity). May be involved in axon elongation and axon regeneration after injury (By similarity). Inhibits neurite extension in type II spiral ganglion neurons in the cochlea (By similarity).

Gene Wiki entry for PRPH Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRPH Gene

Genomics for PRPH Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PRPH Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRPH on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRPH

Top Transcription factor binding sites by QIAGEN in the PRPH gene promoter:
  • AhR
  • AP-1
  • AREB6
  • c-Fos
  • c-Jun
  • CUTL1
  • E47
  • Egr-3
  • MyoD
  • Pax-5

Genomic Locations for PRPH Gene

Genomic Locations for PRPH Gene
chr12:49,293,252-49,298,698
(GRCh38/hg38)
Size:
5,447 bases
Orientation:
Plus strand
chr12:49,687,035-49,692,481
(GRCh37/hg19)
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:
    • Forms homodimers (in vitro) (By similarity). Homopolymerizes into a filamentous network (in vitro) (PubMed:15446584). Forms heterodimers with NEFL, NEFM or NEFH (in vitro) (By similarity). Interacts with DST (via C-terminus) (By similarity). Interacts with RAB7A; the interaction is direct (PubMed:23179371). Interacts with PRKCE (via phorbol-ester/DAG-type 2 domain) (PubMed:18408015).
    Miscellaneous:
    • [Isoform 2]: Gene prediction based on similarity to orthologs.

    Alternative splice isoforms for PRPH Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PRPH Gene

Post-translational modifications for PRPH Gene

  • Phosphorylated; phosphorylation increases after nerve injury in regenerating neurons.
  • 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

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for PRPH Gene

InterPro:
Blocks:
  • Intermediate filament protein
ProtoNet:

Suggested Antigen Peptide Sequences for PRPH Gene

GenScript: Design optimal peptide antigens:
  • Neurofilament 4 (PERI_HUMAN)

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

UniProtKB/Swiss-Prot Function:
Class-III neuronal intermediate filament protein (By similarity). May form an independent structural network without the involvement of other neurofilaments or may cooperate with the neuronal intermediate filament proteins NEFL, NEFH, NEFM and INA to form a filamentous network (PubMed:15446584, PubMed:15322088). Assembly of the neuronal intermediate filaments may be regulated by RAB7A (By similarity). Plays a role in the development of unmyelinated sensory neurons (By similarity). May be involved in axon elongation and axon regeneration after injury (By similarity). Inhibits neurite extension in type II spiral ganglion neurons in the cochlea (By similarity).
GENATLAS Biochemistry:
peripherin,neuronal,intermediate filament associated protein (IFAP,type III)

Phenotypes From GWAS Catalog for PRPH Gene

Gene Ontology (GO) - Molecular Function for PRPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005198 structural molecule activity NAS,IEA --
GO:0005515 protein binding IEA,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

CRISPR Products

miRNA for PRPH Gene

miRTarBase miRNAs that target PRPH

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPH

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

Localization for PRPH Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPH Gene

Cytoplasm, cytoskeleton. Cell projection, axon. Perikaryon.

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 4
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:0005737 cytoplasm IEA --
GO:0005882 intermediate filament IEA,TAS 1378416
GO:0016020 membrane HDA 19946888
GO:0030424 axon IEA --
GO:0043204 perikaryon IEA --
genes like me logo Genes that share ontologies with PRPH: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRPH Gene

Pathways & Interactions for PRPH Gene

PathCards logo

SuperPathways 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
  • Cytoskeleton remodeling Neurofilaments

Gene Ontology (GO) - Biological Process for PRPH Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045104 intermediate filament cytoskeleton organization IEA --
genes like me logo Genes that share ontologies with PRPH: view

No data available for SIGNOR curated interactions for PRPH Gene

Drugs & Compounds for PRPH Gene

No Compound Related Data Available

Transcripts for PRPH Gene

mRNA/cDNA for PRPH Gene

1 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPH

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

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, MaxQB, and MOPED for PRPH Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRPH

SOURCE GeneReport for Unigene cluster for PRPH Gene:

Hs.37044

mRNA Expression by UniProt/SwissProt for PRPH Gene:

P41219-PERI_HUMAN
Tissue specificity: Expressed in the neurons of the outer hair cells in the organ of Corti and to a lesser extent in type I spiral ganglion cells.

Evidence on tissue expression from TISSUES for PRPH Gene

  • Nervous system(4.4)
  • Liver(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRPH Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • epiglottis
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • pharynx
  • skull
  • tongue
  • vocal cord
Thorax:
  • bronchus
  • clavicle
  • esophagus
  • heart
  • lung
  • scapula
  • trachea
Abdomen:
  • biliary tract
  • liver
  • stomach
Limb:
  • arm
  • digit
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with PRPH: view

No data available for Protein tissue co-expression partners 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 30 31
  • 99.93 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PRPH 30 31
  • 93.43 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PRPH 30 31
  • 92.57 (n)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia PRPH 31
  • 91 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PRPH 31
  • 91 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Prph 30
  • 90.72 (n)
Mouse
(Mus musculus)
Mammalia Prph 30 17 31
  • 89.61 (n)
OneToOne
Chicken
(Gallus gallus)
Aves -- 31
  • 48 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia PRPH 31
  • 80 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia prph 30
  • 67.33 (n)
African clawed frog
(Xenopus laevis)
Amphibia plasticin-prov 30
Zebrafish
(Danio rerio)
Actinopterygii prph 30 31
  • 67.15 (n)
OneToOne
plasticin 30
Species where no ortholog for PRPH was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for PRPH: view image

Paralogs for PRPH Gene

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

Variants for PRPH Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRPH Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
734097 Likely Benign: not provided 49,297,464(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
736884 Likely Benign: not provided 49,295,269(+) A/G NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT
737329 Benign: not provided 49,295,552(+) C/A MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT
873306 Uncertain Significance: Amyotrophic lateral sclerosis 49,295,390(+) C/T NONSENSE,NON_CODING_TRANSCRIPT_VARIANT
rs112146976 Not Provided: not provided 49,297,620(+) C/A NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PRPH Gene

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)

Additional Variant Information for PRPH Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PRPH Gene

MalaCards: The human disease database

(17) MalaCards diseases for PRPH Gene - From: OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PRPH in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PERI_HUMAN
  • Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. {ECO:0000269 PubMed:15322088, ECO:0000269 PubMed:15446584, ECO:0000269 PubMed:20363051}. Note=Disease susceptibility may be associated with variations affecting the gene represented in this entry.

Additional Disease Information for PRPH

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

No data available for 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 JP (The Journal of biological chemistry 2004) 3 4 41
  2. Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin. (PMID: 23179371) Cogli L … Bucci C (Acta neuropathologica 2013) 3 4
  3. A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient. (PMID: 20363051) Corrado L … D'Alfonso S (Neurobiology of aging 2011) 3 4
  4. Expression of peripherin in human cochlea. (PMID: 21088854) Liu W … Rask-Andersen H (Cell and tissue research 2010) 3 4
  5. Protein kinase Cepsilon binds peripherin and induces its aggregation, which is accompanied by apoptosis of neuroblastoma cells. (PMID: 18408015) Sunesson L … Larsson C (The Journal of biological chemistry 2008) 3 4

Products for PRPH Gene

Sources for PRPH Gene