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P23942

- PRPH2_HUMAN

UniProt

P23942 - PRPH2_HUMAN

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Protein

Peripherin-2

Gene

PRPH2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

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.

GO - Biological processi

  1. cell adhesion Source: UniProtKB-KW
  2. retina development in camera-type eye Source: Ensembl
  3. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Biological processi

Cell adhesion

Protein family/group databases

TCDBi8.A.40.1.3. the tetraspanin (tetraspanin) family.

Names & Taxonomyi

Protein namesi
Recommended name:
Peripherin-2
Alternative name(s):
Retinal degeneration slow protein
Tetraspanin-22
Short name:
Tspan-22
Gene namesi
Name:PRPH2
Synonyms:PRPH, RDS, TSPAN22
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:9942. PRPH2.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 2424CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei25 – 4319HelicalSequence AnalysisAdd
BLAST
Topological domaini44 – 6118LumenalSequence AnalysisAdd
BLAST
Transmembranei62 – 8019HelicalSequence AnalysisAdd
BLAST
Topological domaini81 – 9919CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei100 – 12324HelicalSequence AnalysisAdd
BLAST
Topological domaini124 – 264141LumenalSequence AnalysisAdd
BLAST
Transmembranei265 – 29026HelicalSequence AnalysisAdd
BLAST
Topological domaini291 – 34656CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: ProtInc
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 7 (RP7) [MIM:608133]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.7 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131R → W in RP7; in combination with a null mutation of ROM1.
VAR_006853
Natural varianti45 – 451L → F in RP7; in combination with a null mutation of ROM1.
Corresponds to variant rs61755770 [ dbSNP | Ensembl ].
VAR_006855
Natural varianti118 – 1181Missing in RP7. 1 Publication
VAR_006858
Natural varianti126 – 1261L → R in RP7.
VAR_006859
Natural varianti142 – 1421R → W in RP7; also found in a patient with central areolar choroidal dystrophy. 1 Publication
VAR_006860
Natural varianti153 – 1531K → R in RP7.
VAR_006861
Natural varianti153 – 1531Missing in RP7.
VAR_006862
Natural varianti165 – 1651C → Y in RP7.
VAR_006864
Natural varianti173 – 1731D → V in RP7.
VAR_006869
Natural varianti185 – 1851L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. 1 Publication
VAR_006871
Natural varianti208 – 2081G → D in RP7. 1 Publication
VAR_006873
Natural varianti210 – 2101P → R in PDREP and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 Publications
VAR_006874
Natural varianti210 – 2101P → S in RP7.
VAR_006875
Natural varianti211 – 2111F → L in RP7.
VAR_006876
Natural varianti212 – 2121S → G in RP7. 1 Publication
VAR_006877
Natural varianti214 – 2141C → S in RP7.
VAR_006880
Natural varianti216 – 2161P → L in RP7. 1 Publication
VAR_006881
Natural varianti216 – 2161P → S in RP7.
VAR_006882
Natural varianti219 – 2191Missing in RP7. 1 Publication
VAR_006884
Natural varianti244 – 2441N → K in RP7; with bulls-eye maculopathy. 1 Publication
VAR_006887
Natural varianti266 – 2661G → D in RP7.
VAR_006889
Retinitis punctata albescens (RPA) [MIM:136880]: Rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments.
Note: The disease is caused by mutations affecting the gene represented in this entry.
Adult-onset vitelliform macular dystrophy (AVMD) [MIM:608161]: A rare autosomal dominant disorder with incomplete penetrance and highly variable expression. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti212 – 2121S → T in AVMD. 1 Publication
VAR_006878
Natural varianti268 – 2681V → I in AVMD. 1 Publication
VAR_006890
Natural varianti305 – 3051G → D in AVMD. 1 Publication
VAR_006892
Patterned dystrophy of retinal pigment epithelium (PDREP) [MIM:169150]: A heterogeneous group of macular disorders. Three main types of PDREP have been described: reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy.3 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti67 – 671Missing in PDREP; also in cone-rod dystrophy.
VAR_006856
Natural varianti68 – 681G → R in PDREP; also in cone-rod dystrophy.
VAR_006857
Natural varianti157 – 1571D → N in PDREP.
VAR_006863
Natural varianti167 – 1671G → D in PDREP; butterfly-shaped. 1 Publication
VAR_006865
Natural varianti167 – 1671G → S in PDREP; butterfly-shaped. 1 Publication
VAR_032052
Natural varianti172 – 1721R → G in PDREP; butterfly-shaped.
VAR_006866
Natural varianti193 – 1931Missing in PDREP; also in cone-rod dystrophy.
VAR_006872
Natural varianti210 – 2101P → R in PDREP and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 Publications
VAR_006874
Natural varianti213 – 2131C → R in PDREP. 1 Publication
VAR_006879
Natural varianti220 – 2201R → Q in PDREP.
VAR_006885
Natural varianti220 – 2201R → W in PDREP. 1 Publication
VAR_006886
Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]: A disease of the macula leading to a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti195 – 1951R → L in CACD2. 1 Publication
Corresponds to variant rs121918567 [ dbSNP | Ensembl ].
VAR_032054
Defects in PRPH2 are found in different retinal diseases including cone-rod dystrophy, retinitis pigmentosa, macular degeneration. The mutations underlying autosomal dominant retinitis pigmentosa and severe macular degeneration are largely missense or small in-frame deletions in a large intradiscal loop between the third and fourth transmembrane domains. In contrast, those associated with the milder pattern phenotypes or with digenic RP are scattered more evenly through the gene and are often nonsense mutations. This observation correlates with the hypothesis that the large loop is an important site of interaction between PRPH2 molecules and other protein components in the disk.

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation, Retinitis pigmentosa

Organism-specific databases

MIMi136880. phenotype.
169150. phenotype.
268000. phenotype.
608133. phenotype.
608161. phenotype.
613105. phenotype.
Orphaneti99000. Adult-onset foveomacular vitelliform dystrophy.
99001. Butterfly-shaped pigment dystrophy.
75377. Central areolar choroidal dystrophy.
1872. Cone rod dystrophy.
227796. Fundus albipunctatus.
791. Retinitis pigmentosa.
52427. Retinitis punctata albescens.
PharmGKBiPA34310.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 346346Peripherin-2PRO_0000168105Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi53 – 531N-linked (GlcNAc...)Sequence Analysis
Glycosylationi229 – 2291N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

PaxDbiP23942.
PRIDEiP23942.

PTM databases

PhosphoSiteiP23942.

Expressioni

Tissue specificityi

Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.

Gene expression databases

BgeeiP23942.
CleanExiHS_PRPH.
HS_PRPH2.
GenevestigatoriP23942.

Organism-specific databases

HPAiHPA029458.

Interactioni

Subunit structurei

Homodimer; disulfide-linked. Probably forms a complex with a ROM1 homodimer. Other proteins could associate with this complex in rods. Interacts with MREG.

Protein-protein interaction databases

STRINGi9606.ENSP00000230381.

Structurei

3D structure databases

ProteinModelPortaliP23942.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni341 – 3466Interaction with MREGBy similarity

Sequence similaritiesi

Belongs to the PRPH2/ROM1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG237707.
HOGENOMiHOG000026780.
HOVERGENiHBG004964.
InParanoidiP23942.
KOiK17343.
OrthoDBiEOG7T1RBG.
PhylomeDBiP23942.
TreeFamiTF331684.

Family and domain databases

InterProiIPR000830. Peripherin/rom-1.
IPR018498. Peripherin/rom-1_CS.
IPR018499. Tetraspanin/Peripherin.
IPR008952. Tetraspanin_EC2.
[Graphical view]
PfamiPF00335. Tetraspannin. 1 hit.
[Graphical view]
PRINTSiPR00218. PERIPHERNRDS.
SUPFAMiSSF48652. SSF48652. 2 hits.
PROSITEiPS00930. RDS_ROM1. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

P23942-1 [UniParc]FASTAAdd to Basket

« Hide

        10         20         30         40         50
MALLKVKFDQ KKRVKLAQGL WLMNWFSVLA GIIIFSLGLF LKIELRKRSD
60 70 80 90 100
VMNNSESHFV PNSLIGMGVL SCVFNSLAGK ICYDALDPAK YARWKPWLKP
110 120 130 140 150
YLAICVLFNI ILFLVALCCF LLRGSLENTL GQGLKNGMKY YRDTDTPGRC
160 170 180 190 200
FMKKTIDMLQ IEFKCCGNNG FRDWFEIQWI SNRYLDFSSK EVKDRIKSNV
210 220 230 240 250
DGRYLVDGVP FSCCNPSSPR PCIQYQITNN SAHYSYDHQT EELNLWVRGC
260 270 280 290 300
RAALLSYYSS LMNSMGVVTL LIWLFEVTIT IGLRYLQTSL DGVSNPEESE
310 320 330 340
SESEGWLLEK SVPETWKAFL ESVKKLGKGN QVEAEGAGAG QAPEAG
Length:346
Mass (Da):39,186
Last modified:March 1, 1992 - v1
Checksum:i2BB3C5415E194D2A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti44 – 441E → G in AAH74720. (PubMed:15489334)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti13 – 131R → W in RP7; in combination with a null mutation of ROM1.
VAR_006853
Natural varianti32 – 321I → V in some patients with macular dystrophy.
VAR_006854
Natural varianti45 – 451L → F in RP7; in combination with a null mutation of ROM1.
Corresponds to variant rs61755770 [ dbSNP | Ensembl ].
VAR_006855
Natural varianti67 – 671Missing in PDREP; also in cone-rod dystrophy.
VAR_006856
Natural varianti68 – 681G → R in PDREP; also in cone-rod dystrophy.
VAR_006857
Natural varianti118 – 1181Missing in RP7. 1 Publication
VAR_006858
Natural varianti126 – 1261L → R in RP7.
VAR_006859
Natural varianti142 – 1421R → W in RP7; also found in a patient with central areolar choroidal dystrophy. 1 Publication
VAR_006860
Natural varianti153 – 1531K → R in RP7.
VAR_006861
Natural varianti153 – 1531Missing in RP7.
VAR_006862
Natural varianti157 – 1571D → N in PDREP.
VAR_006863
Natural varianti165 – 1651C → Y in RP7.
VAR_006864
Natural varianti167 – 1671G → D in PDREP; butterfly-shaped. 1 Publication
VAR_006865
Natural varianti167 – 1671G → S in PDREP; butterfly-shaped. 1 Publication
VAR_032052
Natural varianti169 – 1691Missing in some patients with macular dystrophy. 1 Publication
VAR_032053
Natural varianti172 – 1721R → G in PDREP; butterfly-shaped.
VAR_006866
Natural varianti172 – 1721R → Q in some patients with macular dystrophy. 1 Publication
VAR_006867
Natural varianti172 – 1721R → W in some patients with macular dystrophy; also in a family affected by central areolar choroidal dystrophy. 3 Publications
VAR_006868
Natural varianti173 – 1731D → V in RP7.
VAR_006869
Natural varianti184 – 1841Y → S in cone-rod dystrophy.
VAR_006870
Natural varianti185 – 1851L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. 1 Publication
VAR_006871
Natural varianti193 – 1931Missing in PDREP; also in cone-rod dystrophy.
VAR_006872
Natural varianti195 – 1951R → L in CACD2. 1 Publication
Corresponds to variant rs121918567 [ dbSNP | Ensembl ].
VAR_032054
Natural varianti208 – 2081G → D in RP7. 1 Publication
VAR_006873
Natural varianti210 – 2101P → R in PDREP and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 Publications
VAR_006874
Natural varianti210 – 2101P → S in RP7.
VAR_006875
Natural varianti211 – 2111F → L in RP7.
VAR_006876
Natural varianti212 – 2121S → G in RP7. 1 Publication
VAR_006877
Natural varianti212 – 2121S → T in AVMD. 1 Publication
VAR_006878
Natural varianti213 – 2131C → R in PDREP. 1 Publication
VAR_006879
Natural varianti214 – 2141C → S in RP7.
VAR_006880
Natural varianti216 – 2161P → L in RP7. 1 Publication
VAR_006881
Natural varianti216 – 2161P → S in RP7.
VAR_006882
Natural varianti219 – 2191P → R in some patients with macular dystrophy. 1 Publication
VAR_006883
Natural varianti219 – 2191Missing in RP7. 1 Publication
VAR_006884
Natural varianti220 – 2201R → Q in PDREP.
VAR_006885
Natural varianti220 – 2201R → W in PDREP. 1 Publication
VAR_006886
Natural varianti244 – 2441N → H in cone-rod dystrophy.
VAR_006888
Natural varianti244 – 2441N → K in RP7; with bulls-eye maculopathy. 1 Publication
VAR_006887
Natural varianti266 – 2661G → D in RP7.
VAR_006889
Natural varianti268 – 2681V → I in AVMD. 1 Publication
VAR_006890
Natural varianti304 – 3041E → Q Associated with D-338 on the same haplotype. 1 Publication
Corresponds to variant rs390659 [ dbSNP | Ensembl ].
VAR_006891
Natural varianti305 – 3051G → D in AVMD. 1 Publication
VAR_006892
Natural varianti310 – 3101K → R.1 Publication
Corresponds to variant rs425876 [ dbSNP | Ensembl ].
VAR_006893
Natural varianti313 – 3131P → L.1 Publication
Corresponds to variant rs61748434 [ dbSNP | Ensembl ].
VAR_006894
Natural varianti338 – 3381G → D Associated with Q-304 on the same haplotype. 1 Publication
Corresponds to variant rs434102 [ dbSNP | Ensembl ].
VAR_006895

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M73531 mRNA. Translation: AAA60260.1.
U07149, U07147, U07148 Genomic DNA. Translation: AAA16958.1.
AL049843 Genomic DNA. Translation: CAB75420.1.
BC074720 mRNA. Translation: AAH74720.1.
CCDSiCCDS4871.1.
PIRiA40308.
RefSeqiNP_000313.2. NM_000322.4.
UniGeneiHs.654489.

Genome annotation databases

EnsembliENST00000230381; ENSP00000230381; ENSG00000112619.
GeneIDi5961.
KEGGihsa:5961.
UCSCiuc003osk.3. human.

Polymorphism databases

DMDMi132212.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

Mutations of the RDS gene

Retina International's Scientific Newsletter

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M73531 mRNA. Translation: AAA60260.1 .
U07149 , U07147 , U07148 Genomic DNA. Translation: AAA16958.1 .
AL049843 Genomic DNA. Translation: CAB75420.1 .
BC074720 mRNA. Translation: AAH74720.1 .
CCDSi CCDS4871.1.
PIRi A40308.
RefSeqi NP_000313.2. NM_000322.4.
UniGenei Hs.654489.

3D structure databases

ProteinModelPortali P23942.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000230381.

Protein family/group databases

TCDBi 8.A.40.1.3. the tetraspanin (tetraspanin) family.

PTM databases

PhosphoSitei P23942.

Polymorphism databases

DMDMi 132212.

Proteomic databases

PaxDbi P23942.
PRIDEi P23942.

Protocols and materials databases

DNASUi 5961.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000230381 ; ENSP00000230381 ; ENSG00000112619 .
GeneIDi 5961.
KEGGi hsa:5961.
UCSCi uc003osk.3. human.

Organism-specific databases

CTDi 5961.
GeneCardsi GC06M042664.
GeneReviewsi PRPH2.
H-InvDB HIX0025091.
HGNCi HGNC:9942. PRPH2.
HPAi HPA029458.
MIMi 136880. phenotype.
169150. phenotype.
179605. gene.
268000. phenotype.
608133. phenotype.
608161. phenotype.
613105. phenotype.
neXtProti NX_P23942.
Orphaneti 99000. Adult-onset foveomacular vitelliform dystrophy.
99001. Butterfly-shaped pigment dystrophy.
75377. Central areolar choroidal dystrophy.
1872. Cone rod dystrophy.
227796. Fundus albipunctatus.
791. Retinitis pigmentosa.
52427. Retinitis punctata albescens.
PharmGKBi PA34310.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG237707.
HOGENOMi HOG000026780.
HOVERGENi HBG004964.
InParanoidi P23942.
KOi K17343.
OrthoDBi EOG7T1RBG.
PhylomeDBi P23942.
TreeFami TF331684.

Miscellaneous databases

ChiTaRSi PRPH2. human.
GeneWikii Peripherin_2.
GenomeRNAii 5961.
NextBioi 23208.
PROi P23942.
SOURCEi Search...

Gene expression databases

Bgeei P23942.
CleanExi HS_PRPH.
HS_PRPH2.
Genevestigatori P23942.

Family and domain databases

InterProi IPR000830. Peripherin/rom-1.
IPR018498. Peripherin/rom-1_CS.
IPR018499. Tetraspanin/Peripherin.
IPR008952. Tetraspanin_EC2.
[Graphical view ]
Pfami PF00335. Tetraspannin. 1 hit.
[Graphical view ]
PRINTSi PR00218. PERIPHERNRDS.
SUPFAMi SSF48652. SSF48652. 2 hits.
PROSITEi PS00930. RDS_ROM1. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA."
    Travis G.H., Christerson L., Danielson P.E., Klisak I., Sparkes R.S., Hahn L.B., Dryja T.P., Sutcliffe G.J.
    Genomics 10:733-739(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
  2. Kajiwara K.
    Submitted (FEB-1994) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
  3. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], VARIANTS GLN-304; ARG-310 AND ASP-338.
  4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Brain.
  5. "Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration."
    Keen T.J., Inglehearn C.F.
    Hum. Mutat. 8:297-303(1996) [PubMed] [Europe PMC] [Abstract]
    Cited for: REVIEW ON VARIANTS.
  6. "A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa."
    Farrar G.J., Kenna P., Jordan S.A., Kumar-Singh R., Humphries M.M., Sharp E.M., Sheils D.M., Humphries P.
    Nature 354:478-480(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP7 CYS-118 DEL.
  7. "Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa."
    Kajiwara K., Hahn L.B., Mukai S., Travis G.H., Berson E.L., Dryja T.P.
    Nature 354:480-483(1991) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS RP7 PRO-185; LEU-216 AND PRO-219 DEL.
  8. "Autosomal dominant retinitis pigmentosa: a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree."
    Farrar G.J., Kenna P., Jordan S.A., Kumar-Singh R., Humphries M.M., Sharp E.M., Sheils D.M., Humphries P.
    Genomics 14:805-807(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP7 GLY-212.
  9. "Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene."
    Nichols B.E., Sheffield V.C., Vandenburgh K., Drack A.V., Kimura A.E., Stone E.M.
    Nat. Genet. 3:202-207(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PDREP ASP-167.
  10. "Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy."
    Wells J., Wroblewski J., Keen J., Inglehearn C., Jubb C., Eckstein A., Jay M., Arden G., Bhattacharya S., Fitzke F.
    Nat. Genet. 3:213-218(1993) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS GLN-172 AND TRP-172.
  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., White M.F. Jr., Skalka H., Stone E.M.
    Am. J. Ophthalmol. 118:259-260(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT FOVEOMACULAR DYSTROPHY ARG-210.
  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., Nakazawa M., Chida Y., Shiono T., Tamai M.
    Genomics 20:137-139(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP7 LYS-244.
  13. "A point mutation in the RDS-peripherin gene in a Spanish family with central areolar choroidal dystrophy."
    Reig C., Serra A., Gean E., Vidal M., Arumi J., De la Calzada M.D., Antich J., Carballo M.
    Ophthalmic Genet. 16:39-44(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT TRP-172.
  14. Erratum
    Reig C., Serra A., Gean E., Vidal M., Arumi J., De la Calzada M.D., Antich J., Carballo M.
    Ophthalmic Genet. 16:179-179(1995)
  15. "A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration."
    Gorin M.B., Jackson K.E., Ferrell R.E., Sheffield V.C., Jacobson S.G., Gass J.D., Mitchell E., Stone E.M.
    Ophthalmology 102:246-255(1995) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP7 ARG-210.
  16. "Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene."
    Felbor U., Schilling H., Weber B.H.F.
    Hum. Mutat. 10:301-309(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS AVMD THR-212; ILE-268 AND ASP-305.
  17. "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., Downes S.M., Bessant D.A.R., Bird A.C., Bhattacharya S.S.
    Am. J. Hum. Genet. 62:192-195(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PDREP ARG-210; ARG-213 AND TRP-220, VARIANTS MACULAR DYSTROPHY TRP-172 AND ARG-219.
  18. "P313L: a novel amino acid substitution within the C-terminal domain of the human RDS/peripherin gene."
    Ruiz A., Borrego S., Sanchez J., Antinolo G.
    Hum. Mutat. 11:415-416(1998)
    Cited for: VARIANT LEU-313.
  19. "Three novel RDS-peripherin mutations (689delT, 857del17, G208D) in Spanish families affected with autosomal dominant retinal degenerations."
    Trujillo M.J., Bueno J., Osorio A., Sanz R., Garcia-Sandoval B., Ramos C., Ayuso C.
    Hum. Mutat. 12:70-70(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT RP7 ASP-208.
  20. "A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene."
    van Lith-Verhoeven J.J., van den Helm B., Deutman A.F., Bergen A.A., Cremers F.P., Hoyng C.B., de Jong P.T.
    Arch. Ophthalmol. 121:1452-1457(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MACULAR DYSTROPHY ASN-169 DEL.
  21. "A novel mutation in the RDS gene in an Italian family with pattern dystrophy."
    Testa F., Marini V., Rossi S., Interlandi E., Nesti A., Rinaldi M., Varano M., Garre C., Simonelli F.
    Br. J. Ophthalmol. 89:1066-1068(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PDREP SER-167.
  22. "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., Meigen T., Weber B.H.
    Arch. Ophthalmol. 124:1020-1027(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT CACD2 LEU-195.
  23. Cited for: VARIANT RP7 TRP-142.

Entry informationi

Entry nameiPRPH2_HUMAN
AccessioniPrimary (citable) accession number: P23942
Secondary accession number(s): Q5TFH5, Q6DK65
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: November 26, 2014
This is version 147 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3