PRPH2 (peripherin 2)

2007-12-01  

Identity

HGNC
PRPH2
LOCATION
6p21.1
LOCUSID
5961
ALIAS
AOFMD,AVMD,CACD2,DS,MDBS1,PRPH,RDS,RP7,TSPAN22,rd2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 5961
MIM: 179605
HGNC: 9942
Ensembl: ENSG00000112619

Variants:

dbSNP: 5961
ClinVar: 5961
TCGA: ENSG00000112619
COSMIC: PRPH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000112619ENST00000230381P23942

Expression (GTEx)

0
1
2
3
4
5
6
7
8
9
10
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
retina
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
183287652008The spectrum of retinal dystrophies caused by mutations in the peripherin/RDS gene.51
120195632002Photoreceptor renewal: a role for peripherin/rds.29
210717392011Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.29
176987582007Clinical and genetic heterogeneity in multifocal vitelliform dystrophy.25
203356032010ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.24
267737592016PRPH2/RDS and ROM-1: Historical context, current views and future considerations.21
175048502007Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.18
190383742009Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations.15
119343232002Butterfly-shaped pattern dystrophy: a genetic, clinical, and histopathological report.14
160190732005Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.14

Citation

Dessen P

PRPH2 (peripherin 2)

Atlas Genet Cytogenet Oncol Haematol. 2007-12-01

Online version: http://atlasgeneticsoncology.org/gene/49883/prph2