Fields »
ABOUT
HELP
BLOG
PRPH2

GENERAL INFORMATION

Gene name

 PRPH2

Gene description

 Peripherin 2 (retinal degeneration, slow)

Protein class

 Disease related genes
Plasma proteins
Potential drug targets
Predicted membrane proteins
Transporters

Predicted localization

 Membrane

Number of transcripts

 1
SHOW MORE

HUMAN PROTEIN ATLAS INFORMATION

RNA category
TCGA (cancer tissue):Mixed
HPA (cell line):Cell line enhanced (ASC TERT1, LHCN-M2)
HPA (normal tissue):Mixed

Protein evidence

 Evidence at protein level

Protein expression
normal tissue

 Cytoplasmic expression in photoreceptor outer segments.

ANTIBODY IHC RELIABILITY

Data reliability
description

 External characterization data supports antibody staining but no internal RNA data available for correlation.

Reliability score

 Supported based on 1 antibody.
HPA029458
SHOW MORE

PROGNOSTIC SUMMARY
Gene product is not prognostic.
Show all

RNA EXPRESSION OVERVIEW
TCGA dataset
RNA cancer category: Mixed

PROTEIN EXPRESSION
Colorectal cancer
Breast cancer
Prostate cancer
Lung cancer
Liver cancer

STAINING SUMMARY
HPA029458

GENE INFORMATION

Gene name

 PRPH2 (HGNC Symbol)

Synonyms

 CACD2, rd2, RDS, RP7, TSPAN22

Description

 Peripherin 2 (retinal degeneration, slow) (HGNC Symbol)

Entrez gene summary

 The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It may function as an adhesion molecule involved in stabilization and compaction of outer segment disks or in the maintenance of the curvature of the rim. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]

Chromosome

 6

Cytoband

 p21.1

Chromosome location (bp)

 42696600 - 42722574

Protein evidence

 Evidence at protein level (all genes)

Ensembl

 ENSG00000112619 (version 83.38)

Entrez gene

 5961

UniProt

 P23942 (UniProt - Evidence at protein level)

neXtProt

 NX_P23942

Antibodypedia

 PRPH2 antibodies

PROTEIN BROWSER
PRPH2-001

PROTEIN INFORMATION

Splice variant

UniProt

Protein class

Gene ontology

Length & mass

Signal peptide
(predicted)

Transmembrane regions
(predicted)
PRPH2-001
ENSP00000230381
ENST00000230381
P23942 [Direct mapping]
Peripherin-2
Show all
Transporters
   Accessory Factors Involved in Transport
Predicted membrane proteins
   Prediction method-based
   Membrane proteins predicted by MDM
   MEMSAT3 predicted membrane proteins
   MEMSAT-SVM predicted membrane proteins
   Phobius predicted membrane proteins
   SCAMPI predicted membrane proteins
   SPOCTOPUS predicted membrane proteins
   THUMBUP predicted membrane proteins
   TMHMM predicted membrane proteins
   # TM segments-based
   4TM proteins predicted by MDM
Plasma proteins
Disease related genes
Potential drug targets
Protein evidence (Kim et al 2014)
Show all
GO:0001750 [photoreceptor outer segment]
GO:0005887 [integral component of plasma membrane]
GO:0007155 [cell adhesion]
GO:0007166 [cell surface receptor signaling pathway]
GO:0007601 [visual perception]
GO:0016021 [integral component of membrane]
GO:0060041 [retina development in camera-type eye]
Show all
 346 aa
39.3 kDa 		No 4

Contact

The Project

The Human Protein Atlas

The Human Protein Atlas project is funded
by the Knut & Alice Wallenberg foundation.