PRPH (peripherin)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 5630
Gene name Peripherin
Gene symbol PRPH
Synonyms (NCBI Gene)
NEF4PRPH1
Chromosome 12
Chromosome location 12q13.12
Summary 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 pe
miRNA miRNA information provided by mirtarbase database.
7
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT022594 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT1265982 hsa-miR-1254 CLIP-seq
MIRT1265983 hsa-miR-1263 CLIP-seq
MIRT1265984 hsa-miR-3116 CLIP-seq
MIRT1265985 hsa-miR-4643 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0005198 Function Structural molecule activity IEA
GO:0005198 Function Structural molecule activity NAS 1378416
GO:0005200 Function Structural constituent of cytoskeleton IBA
GO:0005515 Function Protein binding IPI 21900206, 32296183, 32814053, 33961781, 36217029
GO:0005737 Component Cytoplasm IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
170710 9461 ENSG00000135406
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P41219
Protein name Peripherin (Neurofilament 4)
Protein 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 I
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04732 Filament_head 12 → 95 Intermediate filament head (DNA binding) region Family
PF00038 Filament 96 → 406 Intermediate filament protein Coiled-coil
Tissue specificity 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. {ECO:0000269|PubMed:21088854}.
Sequence
Sequence length 470
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG 
  Amyotrophic lateral sclerosis
Pathways of neurodegeneration - multiple diseases 		 
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic lateral sclerosis type 1 Likely pathogenic rs781660354, rs2498984328 RCV001808230
RCV004547323
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amyotrophic lateral sclerosis Uncertain significance rs1943161245 RCV001095524
Amyotrophic lateral sclerosis type 10 Uncertain significance rs760653849 RCV002463847
Amyotrophic lateral sclerosis, susceptibility to Conflicting classifications of pathogenicity; risk factor rs58599399, rs56843567 RCV000014706
RCV002295280
Melanoma Benign; Likely benign rs73112142 RCV005899687
Show/Hide Text Mining Associations (28)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Abnormalities Drug Induced Associate 21071739
Alzheimer Disease Associate 28003435
Amyotrophic Lateral Sclerosis Associate 15322088, 15446584, 18287500, 18408015
Best Vitelliform Macular Dystrophy Multifocal Associate 17504850
Carcinoma Renal Cell Associate 39298723
Choroidal sclerosis Associate 11801511, 8644804
Cone Rod Dystrophies Associate 21071739
Fundus Albipunctatus Associate 33801777
Genetic Diseases Inborn Associate 17504850
Giant Axonal Neuropathy Associate 25398950