PRPH2

GENERAL INFORMATION

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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
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HUMAN PROTEIN ATLAS INFORMATION

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RNA tissue category

HPA:Mixed
GTEx:Mixed

Protein evidence

Evidence at protein level

Protein localization

All normal tissues were negative except moderate nuclear/nucleolar positivity in a fraction of cells in urothelium and Purkinje cells.

ANTIBODY RELIABILITY

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Data reliability
description

Pending RNA-based expert annotation.

Data reliability

Uncertain based on 1 antibody.
HPA029458
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RNA AND PROTEIN EXPRESSION SUMMARY

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RNA expression (FPKM) Protein expression (score)
Brain
Endocrine tissues
Bone marrow & immune system
Muscle tissues
Lung
Liver & gallbladder
Pancreas
Gastrointestinal tract
Kidney & urinary bladder
Male tissues
Female tissues
Adipose & soft tissue
Skin
Cerebral cortex

Lymph node

Liver

Colon

Kidney

Urinary bladder

Testis



PROTEIN EXPRESSION OVERVIEW

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Organ

Expression



RNA EXPRESSION OVERVIEW

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HPA dataset
RNA tissue category:  Mixed

Organ

Expression

GTEx dataset
RNA tissue category:  Mixed

Organ

Expression



GENE INFORMATION

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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 78.38)

Entrez gene

5961

UniProt

P23942 (UniProt - Evidence at protein level)

neXtProt

NX_P23942

Antibodypedia

PRPH2 antibodies


PROTEIN BROWSER

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ENST00000230381
 
 
 
 


PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

PRPH2-001 ENSP00000230381
ENST00000230381
P23942
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