PRPH (peripherin)

2008-09-01 Affiliation

Identity

HGNC

PRPH

LOCATION

12q13.12

LOCUSID

5630

ALIAS

NEF4,PRPH1

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 5630
MIM: 170710
HGNC: 9461
Ensembl: ENSG00000135406

Variants:

dbSNP: 5630
ClinVar: 5630
TCGA: ENSG00000135406
COSMIC: PRPH

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000135406	ENST00000257860	P41219
ENSG00000135406	ENST00000451891	F8W835
ENSG00000135406	ENST00000532332	H7C5W5

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Amyotrophic lateral sclerosis (ALS)	KEGG	ko05014
Amyotrophic lateral sclerosis (ALS)	KEGG	hsa05014

Protein levels (Protein atlas)

Not detected

Low

Medium

High

References

Pubmed ID	Year	Title	Citations
30822235	2019	Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.	2
30992453	2019	A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.	7
30822235	2019	Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.	2
30992453	2019	A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.	7
29196434	2017	Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin.	48
29196434	2017	Type III Intermediate Filaments Desmin, Glial Fibrillary Acidic Protein (GFAP), Vimentin, and Peripherin.	48
26469323	2016	Utility of Peripherin Versus MAP-2 and Calretinin in the Evaluation of Hirschsprung Disease.	5
27185639	2016	Discovery of Phosphorylated Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus.	12
26469323	2016	Utility of Peripherin Versus MAP-2 and Calretinin in the Evaluation of Hirschsprung Disease.	5
27185639	2016	Discovery of Phosphorylated Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus.	12
23179371	2013	Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.	24
23179371	2013	Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.	24
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	24
22360420	2012	Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.	24
20363051	2011	A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.	24

Citation

Dessen P

PRPH (peripherin)

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

Online version: http://atlasgeneticsoncology.org/gene/50325