Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

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

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
MIRT1265986	hsa-miR-642b	CLIP-seq
MIRT1265987	hsa-miR-661	CLIP-seq

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
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005882	Component	Intermediate filament	IEA
GO:0005882	Component	Intermediate filament	TAS	1378416
GO:0005886	Component	Plasma membrane	IBA
GO:0016020	Component	Membrane	HDA	19946888
GO:0030424	Component	Axon	IBA
GO:0030424	Component	Axon	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043204	Component	Perikaryon	IEA
GO:0045098	Component	Type III intermediate filament	IBA
GO:0045109	Process	Intermediate filament organization	IBA
GO:0070062	Component	Extracellular exosome	HDA	23533145

MIM	HGNC	e!Ensembl
170710	9461	ENSG00000135406

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

MSHHPSGLRAGFSSTSYRRTFGPPPSLSPGAFSYSSSSRFSSSRLLGSASPSSSVRLGSF
RSPRAGAGALLRLPSERLDFSMAEALNQEFLATRSNEKQELQELNDRFANFIEKVRFLEQ
QNAALRGELSQARGQEPARADQLCQQELRELRRELELLGRERDRVQVERDGLAEDLAALK
QRLEEETRKREDAEHNLVLFRKDVDDATLSRLELERKIESLMDEIEFLKKLHEEELRDLQ
VSVESQQVQQVEVEATVKPELTAALRDIRAQYESIAAKNLQEAEEWYKSKYADLSDAANR
NHEALRQAKQEMNESRRQIQSLTCEVDGLRGTNEALLRQLRELEEQFALEAGGYQAGAAR
LEEELRQLKEEMARHLREYQELLNVKMALDIEIATYRKLLEGEESRISVPVHSFASLNIK
TTVPEVEPPQDSHSRKTVLIKTIETRNGEVVTESQKEQRSELDKSSAHSY

Sequence length

470

Interactions

View interactions

	KEGG
	Amyotrophic lateral sclerosis Pathways of neurodegeneration - multiple diseases

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (1)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Amyotrophic lateral sclerosis type 1	Likely pathogenic	rs781660354, rs2498984328	RCV001808230 RCV004547323	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Amyotrophic lateral sclerosis	Uncertain significance	ClinVar ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet ClinGen, Disgenet, GWAS catalog, Orphanet	★★★★★ ★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
AMYOTROPHIC LATERAL SCLEROSIS 1	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AMYOTROPHIC LATERAL SCLEROSIS 10	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis type 10	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Amyotrophic lateral sclerosis, susceptibility to	Conflicting classifications of pathogenicity; risk factor	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR NEURON DISEASE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PRPH-related disorder	Conflicting classifications of pathogenicity; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

PRPH (peripherin)