Seroatlas · Human Serome Atlas

PRPH2

Peripherin-2

Also known as: CACD2, PRPH2_HUMAN, rd2, RDS, RP7, TSPAN22

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P23942
Gene
PRPH2
Ensembl
ENSG00000112619
Chromosome
6
Canonical length
346 aa
Protein class
Disease related genes, Human disease related genes, Plasma proteins, Potential drug targets, Predicted membrane proteins, Transporters
Quaternary structure
Homotetramer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

346 residues, UniProt reviewed canonical sequence.

>P23942|PRPH2
     1  MALLKVKFDQ KKRVKLAQGL WLMNWFSVLA GIIIFSLGLF LKIELRKRSD VMNNSESHFV
    61  PNSLIGMGVL SCVFNSLAGK ICYDALDPAK YARWKPWLKP YLAICVLFNI ILFLVALCCF
   121  LLRGSLENTL GQGLKNGMKY YRDTDTPGRC FMKKTIDMLQ IEFKCCGNNG FRDWFEIQWI
   181  SNRYLDFSSK EVKDRIKSNV DGRYLVDGVP FSCCNPSSPR PCIQYQITNN SAHYSYDHQT
   241  EELNLWVRGC RAALLSYYSS LMNSMGVVTL LIWLFEVTIT IGLRYLQTSL DGVSNPEESE
   301  SESQGWLLER SVPETWKAFL ESVKKLGKGN QVEAEGADAG QAPEAG

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against PRPH2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Intracellular
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
595 nTPM

Expression across tissuesHPA

Tissue

  • retina: 595 nTPM
  • skeletal muscle: 12 nTPM
  • parathyroid gland: 4 nTPM
  • thyroid gland: 3.8 nTPM
  • cerebral cortex: 3.6 nTPM
  • testis: 3.5 nTPM

Single-cell type

  • rod photoreceptor cells: 1,418 nCPM
  • cone photoreceptor cells: 518 nCPM
  • retinal ganglion cells: 73 nCPM
  • retinal horizontal cells: 34 nCPM
  • retinal bipolar cells: 26 nCPM
  • epicardial cells: 21 nCPM

Immune cell

  • basophil: 0.9 nTPM
  • neutrophil: 0.7 nTPM
  • MAIT T-cell: 0.2 nTPM
  • non-classical monocyte: 0.2 nTPM
  • gdT-cell: 0.1 nTPM
  • naive B-cell: 0.1 nTPM

Brain region

  • cerebral cortex: 8.2 nTPM
  • hypothalamus: 7.4 nTPM
  • basal ganglia: 6.3 nTPM
  • pons: 4.5 nTPM
  • white matter: 4.4 nTPM
  • midbrain: 4.1 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about PRPH2.

Disease | AllUniProt

Conditions PRPH2 is implicated in, by any mechanism.

Disease | GeneticClinVar

362 pathogenic / likely-pathogenic of 832 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.67
gnomAD pLI
0.12
gnomAD missense Z
0.1
DepMap mean gene effect
0.08
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of PRPH2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads PRPH2 as an antibody target. Whether an autoantibody or antibody against PRPH2 could matter depends on whether native PRPH2 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

PRPH2 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label PRPH2 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/PRPH2. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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