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8.A.40.1.3
Peripherin-2 of 346 aas and 4 TMSs; Rod outer segment membrane protein; RDS; PRDH2. Causes retenal degeneration.  Links rhodopsin (TC# 9.A.14.1.2) to a cyclic nucleotide-dependent channel (TC# 1.A.1.5.3) in the outer segments of rod photoreceptors.  The G266D retinitis pigmentosa mutation in TMS4 of rhodopsin abolishes binding of peripherin-2 and prevents association with the CNGA1/CNGB1a subunits present in the complex (Becirovic et al. 2014).

Accession Number:P23942
Protein Name:Peripherin-2
Length:346
Molecular Weight:39186.00
Species:Homo sapiens (Human) [9606]
Number of TMSs:4
Location1 / Topology2 / Orientation3: Membrane1 / Multi-pass membrane protein2
Substrate NONE

Cross database links:

Genevestigator: P23942
eggNOG: NOG237707
HEGENOM: HBG444669
Entrez Gene ID: 5961   
Pfam: PF00335   
KEGG: hsa:5961   

Gene Ontology

GO:0016021 C:integral to membrane
GO:0007155 P:cell adhesion
GO:0007601 P:visual perception

References (20)

[1] “The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.”  Travis G.H.et.al.   1679750
[2] “The DNA sequence and analysis of human chromosome 6.”  Mungall A.J.et.al.   14574404
[3] “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).”  The MGC Project Teamet.al.   15489334
[4] “Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.”  Keen T.J.et.al.   8956033
[5] “A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.”  Farrar G.J.et.al.   1749427
[6] “Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.”  Kajiwara K.et.al.   1684223
[7] “Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.”  Farrar G.J.et.al.   1427912
[8] “”  Farrar G.J.et.al.   8449524
[9] “Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.”  Nichols B.E.et.al.   8485574
[10] “Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.”  Wells J.et.al.   8485576
[11] “Choroidal neovascularization in a patient with adult foveomacular dystrophy and a mutation in the retinal degeneration slow gene (Pro 210 Arg).”  Feist R.M.et.al.   7519821
[12] “A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.”  Kikawa E.et.al.   8020945
[13] “A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy.”  Reig C.et.al.   7493155
[14] “A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.”  Gorin M.B.et.al.   7862413
[15] “Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.”  Felbor U.et.al.   9338584
[16] “Founder effect, seen in the British population, of the 172 peripherin/RDS mutation- and further refinement of genetic positioning of the peripherin/RDS gene.”  Payne A.M.et.al.   9443872
[17] “Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations.”  Trujillo M.J.et.al.   10627133
[18] “A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.”  van Lith-Verhoeven J.J.et.al.   14557182
[19] “A novel mutation in the RDS gene in an Italian family with pattern dystrophy.”  Testa F.et.al.   16024869
[20] “Clinical findings in a multigeneration family with autosomal dominant central areolar choroidal dystrophy associated with an Arg195Leu mutation in the peripherin/RDS gene.”  Keilhauer C.N.et.al.   16832026

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FASTA formatted sequence
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:	SESEGWLLEK SVPETWKAFL ESVKKLGKGN QVEAEGAGAG QAPEAG