PRPH (peripherin)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
5630
Gene name Gene Name - the full gene name approved by the HGNC.
Peripherin
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
PRPH
Synonyms (NCBI Gene) Gene synonyms aliases
NEF4, PRPH1
Chromosome Chromosome number
12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
12q13.12
Summary Summary of gene provided in NCBI Entrez 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 pe
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
170710 9461 ENSG00000135406
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID 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 		 
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (1)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis type 1, amyotrophic lateral sclerosis, amyotrophic lateral sclerosis type 1 N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (28)
Associations from Text Mining Disease 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