• Gene id: 5961

Gene Summary

• Gene Symbol: PRPH2   Gene   UCSC   Ensembl
• Aliases: AOFMD, AVMD, CACD2, DS, MDBS1, PRPH, RDS, RP7, TSPAN22, rd2
• Gene name: peripherin 2
• Alternate names: peripherin-2, peripherin 2 (retinal degeneration, slow), peripherin 2, homolog of mouse, peripherin, photoreceptor type, retinal degeneration slow protein, retinal peripherin, tetraspanin-22, tspan-22,
• Gene location: 6p21.1 (42723038: 42694508)     Exons: 5     NC_000006.12
• Gene summary(Entrez): 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

Protein Summary

• Protein general information: P23942  
  • Name: Peripherin 2 (Retinal degeneration slow protein) (Tetraspanin 22) (Tspan 22)
  • Length: 346  
  • Mass: 39186
  • Tissue specificity: Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.
• Sequence:

  MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFN
  SLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRC
  FMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQY
  QITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESE
  SESEGWLLEKSVPETWKAFLESVKKLGKGNQVEAEGAGAGQAPEAG

• Structural information:
  • Interpro: IPR000830  IPR018498  IPR042026  IPR018499  IPR008952  
  • Prosite: PS00930
  • CDD: cd03162
  • STRING: ENSP00000230381
• Other Databases: GeneCards:  PRPH2  Malacards:  PRPH2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0007601	visual perception	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0042995	cell projection	IEA	cellular component
GO:0050896	response to stimulus	IEA	biological process
GO:0007601	visual perception	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0007155	cell adhesion	IEA	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0007601	visual perception	TAS	biological process
GO:0001750	photoreceptor outer segment	IEA	cellular component
GO:0060041	retina development in camera-type eye	IEA	biological process
GO:0001917	photoreceptor inner segment	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0001750	photoreceptor outer segment	IEA	cellular component

Diseases

Associated diseases	References
Retinitis pigmentosa	KEGG:H00527
Vitelliform macular dystrophy	KEGG:H00814
Central areolar choroidal dystrophy	KEGG:H01768
Retinitis pigmentosa	KEGG:H00527
Pattern dystrophies of the retinal pigment epithelium	KEGG:H01890
Vitelliform macular dystrophy	KEGG:H00814
Central areolar choroidal dystrophy	KEGG:H01768
Vitelliform macular dystrophy	PMID:12566026
Vitelliform macular dystrophy	PMID:15370544
Vitelliform macular dystrophy	PMID:9338584
Patterned macular dystrophy	PMID:17031298
Retinitis pigmentosa	PMID:22842402
Fundus albipunctatus	PMID:8485575
Leber congenital amaurosis	PMID:23847139
macular degeneration	PMID:20335603
Retinal degeneration	PMID:9052636
Choroidal sclerosis	PMID:16832026
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R