P23942

※ Protein Information

Tag	Content
UniProt Accession	PRPH2_HUMAN; P23942;
Entrez ID	5961
GenBank Protein ID
GenBank Nucleotide ID
Protein Name	Peripherin-2 (Retinal degeneration slow protein) (Tetraspanin-22) (Tspan-22)
Gene Name	PRPH2; PRPH; RDS; TSPAN22
Organism	Homo sapiens
NCBI Taxa ID	9606
Functional Description	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. It is essential for disk morphogenesis. Functional Description 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. It is essential for disk morphogenesis.
Sequence (Fasta)	MALLKVKFDQ KKRVKLAQGL WLMNWFSVLA GIIIFSLGLF LKIELRKRSD VMNNSESHFV 60 PNSLIGMGVL SCVFNSLAGK ICYDALDPAK YARWKPWLKP YLAICVLFNI ILFLVALCCF 120 LLRGSLENTL GQGLKNGMKY YRDTDTPGRC FMKKTIDMLQ IEFKCCGNNG FRDWFEIQWI 180 SNRYLDFSSK EVKDRIKSNV DGRYLVDGVP FSCCNPSSPR PCIQYQITNN SAHYSYDHQT 240 EELNLWVRGC RAALLSYYSS LMNSMGVVTL LIWLFEVTIT IGLRYLQTSL DGVSNPEESE 300 SESEGWLLEK SVPETWKAFL ESVKKLGKGN QVEAEGAGAG QAPEAG 347 Fasta Sequence >P23942\|PRPH2; PRPH; RDS; TSPAN22\|Homo sapiens (Human) MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGKICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQIEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQTEELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESEGWLLEKSVPETWKAFLESVKKLGKGNQVEAEGAGAGQAPEAG

※ PTM-Disease Association

Num	PTM	Disease	Cell Type	Type	PTM Site	PMID
1	N-linked glycosylation	Autosomal retinitis pigmentosa		C		14750599
1	[Reference]: The P216L mutant, however, induced progressive outer segment instability and photoreceptor degeneration possibly through the introduction of a new N-linked oligosaccharide chain.

※ Disease Cross-ref Annotation

Database	Annotation
CTD (Curated) (count: 5)	MESH:C567750 ; Choroidal Dystrophy, Central Areolar 2 MESH:C562733 ; Fundus Albipunctatus MESH:C536309 ; Patterned dystrophy of retinal pigment epithelium MESH:C564284 ; Retinitis Pigmentosa 7 MESH:D057826 ; Vitelliform Macular Dystrophy
HGMD (count: 113) (view all)	CD962662; Retinitis pigmentosa; Small deletions CD025517; Pattern dystrophy; Small deletions CD073688; Macular dystrophy; Small deletions CD941787; Pattern/cone-rod dystrophy; Small deletions CD972427; Retinitis pigmentosa; Small deletions CD941788; Pattern/cone-rod dystrophy; Small deletions CD972425; Macular dystrophy; Small deletions CD931052; Foveal dystrophy; Small deletions CD075520; Pattern dystrophy; Small deletions CD084195; Retinitis pigmentosa; Small deletions CD075521; Pattern dystrophy; Small deletions CD033226; Macular dystrophy; Small deletions CD951853; Retinitis pigmentosa; Small deletions CD941789; Retinitis pigmentosa; Small deletions CD075522; Pattern dystrophy; Small deletions CD931051; Retinitis pigmentosa; Small deletions CD931049; Retinitis punctata albescens; Small deletions CD931050; Retinitis pigmentosa; Small deletions CD075523; Pattern dystrophy; Small deletions CD910551; Retinitis pigmentosa; Small deletions CD984158; Cone-rod dystrophy; Small deletions CD972426; Macular dystrophy; Small deletions CD910550; Retinitis pigmentosa; Small deletions CD030391; Foveamacular dystrophy, adult onset; Small deletions CG962936; Butterfly dystrophy; Gross deletions CN984514; Macular dystrophy; Gross insertions CX093539; Retinitis pigmentosa; Small indels CX962665; Retinitis pigmentosa; Small indels CX067275; Retinal pattern dystrophy; Small indels CX073797; Macular dystrophy; Small indels CI941915; Retinal pattern dystrophy; Small insertions CI073775; Macular dystrophy; Small insertions CI972692; Pattern dystrophy; Small insertions CI075684; Pattern dystrophy; Small insertions CI962664; Retinitis pigmentosa; Small insertions CM971286; Macular dystrophy; Missense/nonsense CM951112; Retinitis pigmentosa; Missense/nonsense CM074985; Pattern dystrophy; Missense/nonsense CM973129; Cone dystrophy; Missense/nonsense CM951113; Macular dystrophy; Missense/nonsense CM951114; Retinitis pigmentosa; Missense/nonsense CM930635; Retinitis pigmentosa; Missense/nonsense CM951115; Pattern/cone-rod dystrophy; Missense/nonsense CM070249; Retinitis pigmentosa; Missense/nonsense CM090728; Central areolar choroidal dystrophy; Missense/nonsense CM034294; Central areolar choroidal dystrophy; Missense/nonsense CM090729; Retinitis pigmentosa; Missense/nonsense CM920605; Retinitis pigmentosa; Missense/nonsense CM083770; Retinitis pigmentosa; Missense/nonsense CM003949; Macular dystrophy; Missense/nonsense CM010125; Retinitis pigmentosa; Missense/nonsense CM951116; Central areolar choroidal dystrophy; Missense/nonsense CM083769; Retinitis pigmentosa; Missense/nonsense CM941208; Retinitis pigmentosa; Missense/nonsense CM951117; Pattern dystrophy; Missense/nonsense CM074464; Retinal dystrophy; Missense/nonsense CM951118; Retinitis pigmentosa; Missense/nonsense CM052911; Pattern dystrophy; Missense/nonsense CM930636; Foveal dystrophy; Missense/nonsense CM984091; Cone-rod dystrophy; Missense/nonsense CM930637; Macular dystrophy; Missense/nonsense CM930638; Butterfly dystrophy; Missense/nonsense CM930639; Macular dystrophy; Missense/nonsense CM941209; Retinitis pigmentosa; Missense/nonsense CM010126; Retinitis pigmentosa; Missense/nonsense CM003950; Retinitis pigmentosa; Missense/nonsense CM961239; Cone-rod degeneration; Missense/nonsense CM910323; Retinitis pigmentosa; Missense/nonsense CM032999; Central areolar choroidal dystrophy; Missense/nonsense CM971287; Cone-rod dystrophy; Missense/nonsense CM063092; Retinitis pigmentosa ?; Missense/nonsense CM961240; Cone-rod dystrophy; Missense/nonsense CM971288; Central areolar choroidal dystrophy; Missense/nonsense CM941211; Retinitis pigmentosa; Missense/nonsense CM941210; Foveamacular dystrophy; Missense/nonsense CM011806; Retinitis pigmentosa; Missense/nonsense CM951119; Retinitis pigmentosa; Missense/nonsense CM971289; Macular dystrophy; Missense/nonsense CM920606; Retinitis pigmentosa; Missense/nonsense CM984092; Pattern dystrophy; Missense/nonsense CM025888; Pattern dystrophy; Missense/nonsense HM070073; Macular dystrophy; Missense/nonsense CM003951; Pattern dystrophy; Missense/nonsense CM930640; Retinitis pigmentosa; Missense/nonsense CM063093; Retinitis pigmentosa ?; Missense/nonsense CM910324; Retinitis pigmentosa; Missense/nonsense CM090730; Retinitis pigmentosa; Missense/nonsense CM941212; Retinitis pigmentosa; Missense/nonsense CM984093; Macular dystrophy; Missense/nonsense CM984094; Pattern dystrophy; Missense/nonsense CM951120; Pattern dystrophy; Missense/nonsense CM090731; Central areolar choroidal dystrophy; Missense/nonsense CM071075; Retinal dystrophy ?; Missense/nonsense CM971290; Pattern dystrophy; Missense/nonsense CM941213; Retinitis pigmentosa; Missense/nonsense CM941214; Cone-rod degeneration; Missense/nonsense CM941215; Cone-rod degeneration; Missense/nonsense CM971291; Retinitis pigmentosa; Missense/nonsense CM090732; Retinitis pigmentosa; Missense/nonsense CM053390; Pattern dystrophy; Missense/nonsense CM930641; Macular dystrophy; Missense/nonsense CM920607; Retinitis pigmentosa; Missense/nonsense CM971292; Macular dystrophy; Missense/nonsense CM971293; Pattern dystrophy; Missense/nonsense CM971294; Cone dystrophy; Missense/nonsense CM971295; Macular dystrophy; Missense/nonsense CM083771; Retinitis pigmentosa; Missense/nonsense CM971296; Macular dystrophy; Missense/nonsense CM023440; Pattern dystrophy; Missense/nonsense CM971297; Retinitis punctata albescens; Missense/nonsense CS056772; Pattern dystrophy; Splicing CS010139; Retinitis pigmentosa; Splicing CS073522; Macular dystrophy; Splicing
GWASdb (count: 1)	rs422717; Common variable immunodeficiency; common variable immunodeficiency

※ PTM Sites

PTM	Modification Sites
Phosphorylation (count: 2)	184 IQWISNRYLDFSSKE dbPAF 189 NRYLDFSSKEVKDRI dbPAF
Glycation (count: 1)	47 FLKIELRKRSDVMNN PLMD

※ Protein-Protein Interaction

Network

Interaction

Source

F5H469	P23942	BioGRID
O75791	P23942	HPRD
P00749	P23942	BioGRID
P02458	P23942	BioGRID
P04054	P23942	BioGRID
P04211	P23942	BioGRID
P20226	P23942	BioGRID
P23942	P41219	HPRD
P23942	P50748	BioGRID
P23942	P54707	BioGRID
P23942	P63128	BioGRID
P23942	Q03395	HPRD
P23942	Q09470	BioGRID
P23942	Q14028	HPRD
P23942	Q49AN0	BioGRID
P23942	Q6EMB2	BioGRID
P23942	Q6ZWL3	BioGRID
P23942	Q7L1I2	BioGRID
P23942	Q8N159	BioGRID
P23942	Q96LZ7	BioGRID
P23942	Q9UQR1	BioGRID

PTMD Annotation Information

※ Protein Information

Functional Description

Fasta Sequence

※ PTM-Disease Association

※ Disease Cross-ref Annotation

※ PTM Sites

※ Protein-Protein Interaction