PRPH (peripherin)

2008-09-01  

Identity

HGNC
PRPH
LOCATION
12q13.12
LOCUSID
5630
ALIAS
NEF4,PRPH1

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000135406ENST00000257860P41219
ENSG00000135406ENST00000451891F8W835
ENSG00000135406ENST00000532332H7C5W5

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
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

PathwaySourceExternal ID
Amyotrophic lateral sclerosis (ALS)KEGGko05014
Amyotrophic lateral sclerosis (ALS)KEGGhsa05014

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
153220882004A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis.35
118353752002Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation.33
182875002008An aggregate-inducing peripherin isoform generated through intron retention is upregulated in amyotrophic lateral sclerosis and associated with disease pathology.18
223604202012Proteomic analysis identifies dysfunction in cellular transport, energy, and protein metabolism in different brain regions of atypical frontotemporal lobar degeneration.18
203630512011A novel peripherin gene (PRPH) mutation identified in one sporadic amyotrophic lateral sclerosis patient.15
231793712013Charcot-Marie-Tooth type 2B disease-causing RAB7A mutant proteins show altered interaction with the neuronal intermediate filament peripherin.15
167874132006Defective axonal transport of neurofilament proteins in neurons overexpressing peripherin.14
146756092004Expression of peripherin in ubiquinated inclusions of amyotrophic lateral sclerosis.12
210888542010Expression of peripherin in human cochlea.10
187094372008Transgenic mice expressing the Peripherin-EGFP genomic reporter display intrinsic peripheral nervous system fluorescence.8

Citation

Dessen P

PRPH (peripherin)

Atlas Genet Cytogenet Oncol Haematol. 2008-09-01

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