PRPH2

Description		peripherin 2
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GO Annotations	Cellular Component	Photoreceptor Outer Segment Photoreceptor Inner Segment Plasma Membrane Membrane Cell Projection
	Molecular Function	Protein Binding Protein Homodimerization Activity
	Biological Process	Cell Adhesion Visual Perception Response To Low Light Intensity Stimulus Photoreceptor Cell Outer Segment Organization Detection Of Light Stimulus Involved In Visual Perception Protein Homooligomerization Protein Heterooligomerization Protein Maturation Retina Development In Camera-type Eye Protein Localization To Plasma Membrane
Pathways
Drugs
Diseases		Vitelliform macular dystrophy, including: Best disease / Juvenile vitelliform macular dystrophy (VMD2) ; Adult-onset vitelliform macular dystrophy (AVMD) Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA) Retinitis pigmentosa (RP)
GWAS		Pulse pressure ( 27841878)
Novel Interacting Genes		4 novel interacting genes: CNGB1 GRAP2 PRPH ROM1
Interacting Genes		4 interacting genes: CNGB1 GRAP2 PRPH ROM1
Entrez ID		5961
HPRD ID		01553
Ensembl ID		ENSG00000112619
Uniprot IDs		P23942
PDB IDs		7ZW1
Enriched GO Terms of Interacting Partners?		Photoreceptor Cell Outer Segment Organization Detection Of Light Stimulus Involved In Visual Perception Detection Of Light Stimulus Photoreceptor Outer Segment Cyclic Nucleotide-activated Monoatomic Ion Channel Activity Olfactory Nerve Maturation Detection Of Abiotic Stimulus Non-motile Cilium Membrane Detection Of Stimulus Involved In Sensory Perception Nerve Maturation Visual Perception Response To Odorant Sensory Perception Of Light Stimulus Type III Intermediate Filament Detection Of Stimulus Cell Projection Intracellularly CGMP-activated Cation Channel Activity Intracellular Cyclic Nucleotide Activated Cation Channel Complex Intracellularly Cyclic Nucleotide-activated Monoatomic Cation Channel Activity Protein Localization To Photoreceptor Outer Segment Intracellularly CAMP-activated Cation Channel Activity Response To Light Stimulus Rod Photoreceptor Outer Segment Protein Localization To Non-motile Cilium Photoreceptor Outer Segment Membrane Transmembrane Transporter Complex Retina Morphogenesis In Camera-type Eye CGMP Binding Golgi-associated Vesicle Membrane Camera-type Eye Photoreceptor Cell Differentiation Retina Vasculature Development In Camera-type Eye Response To Radiation Retina Homeostasis Eye Photoreceptor Cell Differentiation Sensory Perception CAMP Binding Plasma Membrane Photoreceptor Cell Differentiation Protein Heterooligomerization Ligand-gated Monoatomic Ion Channel Activity Protein Localization To Organelle Sodium Channel Activity Terminal Bouton Photoreceptor Cell Maintenance Phototransduction Phosphotyrosine Residue Binding Detection Of Chemical Stimulus Involved In Sensory Perception Of Smell Membrane Depolarization Ciliary Membrane Regulation Of Cytosolic Calcium Ion Concentration
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