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Protein

Peripherin-2

Gene

PRPH2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: 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

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
Proteomesi
  • UP000005640 Componenti: 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

  • integral component of membrane Source: ProtInc
  • integral component of plasma membrane Source: GO_Central
  • photoreceptor outer segment Source: Ensembl
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Retinitis pigmentosa 7 (RP7)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:608133
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 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 Publication
Corresponds to variant rs61755770 [ dbSNP | Ensembl ].
VAR_006855
Natural varianti118 – 1181Missing in RP7. 1 Publication
VAR_006858
Natural varianti126 – 1261L → P in RP7. 1 Publication
VAR_075759
Natural varianti126 – 1261L → R in RP7.
VAR_006859
Natural varianti141 – 1411Y → C in RP7 and VMD3. 2 Publications
VAR_075761
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 varianti198 – 1981S → R in RP7; decreased protein expression. 2 Publications
VAR_075762
Natural varianti208 – 2081G → D in RP7. 1 Publication
VAR_006873
Natural varianti210 – 2101P → L in RP7; decreased protein expression. 2 Publications
VAR_075764
Natural varianti210 – 2101P → R in MDPT1 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; decreased protein expression. 1 Publication
VAR_006880
Natural varianti216 – 2161P → A in RP7. 1 Publication
VAR_075765
Natural varianti216 – 2161P → L in RP7. 1 Publication
VAR_006881
Natural varianti216 – 2161P → R in RP7. 1 Publication
VAR_075766
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 varianti249 – 2491G → S in RP7; decreased protein expression. 2 Publications
VAR_075768
Natural varianti266 – 2661G → D in RP7.
VAR_006889
Retinitis punctata albescens (RPA)
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of fleck retina disease characterized by aggregation of white flecks posteriorly in the retina, causing night blindness and delayed dark adaptation. It differs from fundus albipunctatus in being progressive and evolving to generalized atrophy of the retina.
See also OMIM:136880
Macular dystrophy, vitelliform, 3 (VMD3)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of vitelliform macular dystrophy, a retinal disease characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. Patients usually become symptomatic in the fourth or fifth decade of life with a protracted disease of decreased visual acuity.
See also OMIM:608161
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti45 – 451L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 Publication
Corresponds to variant rs61755770 [ dbSNP | Ensembl ].
VAR_006855
Natural varianti141 – 1411Y → C in RP7 and VMD3. 2 Publications
VAR_075761
Natural varianti209 – 2091V → I in VMD3; increased protein expression. 2 Publications
VAR_075763
Natural varianti212 – 2121S → T in VMD3. 1 Publication
VAR_006878
Natural varianti213 – 2131C → F in VMD3. 1 Publication
VAR_071974
Natural varianti237 – 2404Missing in VMD3. 1 Publication
VAR_071975
Natural varianti268 – 2681V → I in VMD3. 1 Publication
VAR_006890
Natural varianti305 – 3051G → D in VMD3. 1 Publication
VAR_006892
Macular dystrophy, patterned, 1 (MDPT1)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of retinal patterned dystrophy, a heterogeneous group of macular disorders that includes reticular (fishnet-like) dystrophy, macroreticular (spider-shaped) dystrophy and butterfly-shaped pigment dystrophy.
See also OMIM:169150
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti67 – 671Missing in MDPT1; also in cone-rod dystrophy.
VAR_006856
Natural varianti68 – 681G → R in MDPT1; also in cone-rod dystrophy.
VAR_006857
Natural varianti157 – 1571D → N in MDPT1.
VAR_006863
Natural varianti167 – 1671G → D in MDPT1; butterfly-shaped. 1 Publication
VAR_006865
Natural varianti167 – 1671G → S in MDPT1; butterfly-shaped. 1 Publication
VAR_032052
Natural varianti172 – 1721R → G in MDPT1; butterfly-shaped.
VAR_006866
Natural varianti193 – 1931Missing in MDPT1; also in cone-rod dystrophy.
VAR_006872
Natural varianti210 – 2101P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 Publications
VAR_006874
Natural varianti213 – 2131C → R in MDPT1. 1 Publication
VAR_006879
Natural varianti220 – 2201R → Q in MDPT1; increased protein expression. 1 Publication
VAR_006885
Natural varianti220 – 2201R → W in MDPT1. 1 Publication
VAR_006886
Choroidal dystrophy, central areolar 2 (CACD2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disease of the macula leading to a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris.
See also OMIM:613105
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti123 – 1231R → W in CACD2. 1 Publication
VAR_075758
Natural varianti195 – 1951R → L in CACD2; increased protein expression. 3 Publications
Corresponds to variant rs121918567 [ dbSNP | Ensembl ].
VAR_032054
Natural varianti221 – 2211P → L in CACD2. 1 Publication
VAR_075767

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

MalaCardsiPRPH2.
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.

Polymorphism and mutation databases

BioMutaiPRPH2.
DMDMi132212.

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.
PeptideAtlasiP23942.
PRIDEiP23942.

PTM databases

iPTMnetiP23942.
PhosphoSiteiP23942.

Expressioni

Tissue specificityi

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

Gene expression databases

BgeeiENSG00000112619.
CleanExiHS_PRPH.
HS_PRPH2.
GenevisibleiP23942. HS.

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

eggNOGiKOG3882. Eukaryota.
ENOG4111IRY. LUCA.
HOGENOMiHOG000026780.
HOVERGENiHBG004964.
InParanoidiP23942.
KOiK17343.
OrthoDBiEOG091G0956.
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 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 Publication
Corresponds to variant rs61755770 [ dbSNP | Ensembl ].
VAR_006855
Natural varianti67 – 671Missing in MDPT1; also in cone-rod dystrophy.
VAR_006856
Natural varianti68 – 681G → R in MDPT1; also in cone-rod dystrophy.
VAR_006857
Natural varianti118 – 1181Missing in RP7. 1 Publication
VAR_006858
Natural varianti123 – 1231R → W in CACD2. 1 Publication
VAR_075758
Natural varianti126 – 1261L → P in RP7. 1 Publication
VAR_075759
Natural varianti126 – 1261L → R in RP7.
VAR_006859
Natural varianti137 – 1371G → S.1 Publication
VAR_075760
Natural varianti141 – 1411Y → C in RP7 and VMD3. 2 Publications
VAR_075761
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 MDPT1.
VAR_006863
Natural varianti165 – 1651C → Y in RP7.
VAR_006864
Natural varianti167 – 1671G → D in MDPT1; butterfly-shaped. 1 Publication
VAR_006865
Natural varianti167 – 1671G → S in MDPT1; butterfly-shaped. 1 Publication
VAR_032052
Natural varianti169 – 1691Missing in some patients with macular dystrophy. 1 Publication
VAR_032053
Natural varianti172 – 1721R → G in MDPT1; 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 MDPT1; also in cone-rod dystrophy.
VAR_006872
Natural varianti195 – 1951R → L in CACD2; increased protein expression. 3 Publications
Corresponds to variant rs121918567 [ dbSNP | Ensembl ].
VAR_032054
Natural varianti198 – 1981S → R in RP7; decreased protein expression. 2 Publications
VAR_075762
Natural varianti208 – 2081G → D in RP7. 1 Publication
VAR_006873
Natural varianti209 – 2091V → I in VMD3; increased protein expression. 2 Publications
VAR_075763
Natural varianti210 – 2101P → L in RP7; decreased protein expression. 2 Publications
VAR_075764
Natural varianti210 – 2101P → R in MDPT1 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 VMD3. 1 Publication
VAR_006878
Natural varianti213 – 2131C → F in VMD3. 1 Publication
VAR_071974
Natural varianti213 – 2131C → R in MDPT1. 1 Publication
VAR_006879
Natural varianti214 – 2141C → S in RP7; decreased protein expression. 1 Publication
VAR_006880
Natural varianti216 – 2161P → A in RP7. 1 Publication
VAR_075765
Natural varianti216 – 2161P → L in RP7. 1 Publication
VAR_006881
Natural varianti216 – 2161P → R in RP7. 1 Publication
VAR_075766
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 MDPT1; increased protein expression. 1 Publication
VAR_006885
Natural varianti220 – 2201R → W in MDPT1. 1 Publication
VAR_006886
Natural varianti221 – 2211P → L in CACD2. 1 Publication
VAR_075767
Natural varianti237 – 2404Missing in VMD3. 1 Publication
VAR_071975
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 varianti249 – 2491G → S in RP7; decreased protein expression. 2 Publications
VAR_075768
Natural varianti266 – 2661G → D in RP7.
VAR_006889
Natural varianti268 – 2681V → I in VMD3. 1 Publication
VAR_006890
Natural varianti304 – 3041E → Q Polymorphism; associated with D-338 on the same haplotype. 2 Publications
Corresponds to variant rs390659 [ dbSNP | Ensembl ].
VAR_006891
Natural varianti305 – 3051G → D in VMD3. 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 Polymorphism; associated with Q-304 on the same haplotype. 2 Publications
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.4. human.

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.
CCDSiCCDS4871.1.
PIRiA40308.
RefSeqiNP_000313.2. NM_000322.4.
UniGeneiHs.654489.

3D structure databases

ProteinModelPortaliP23942.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000230381.

Protein family/group databases

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

PTM databases

iPTMnetiP23942.
PhosphoSiteiP23942.

Polymorphism and mutation databases

BioMutaiPRPH2.
DMDMi132212.

Proteomic databases

PaxDbiP23942.
PeptideAtlasiP23942.
PRIDEiP23942.

Protocols and materials databases

DNASUi5961.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000230381; ENSP00000230381; ENSG00000112619.
GeneIDi5961.
KEGGihsa:5961.
UCSCiuc003osk.4. human.

Organism-specific databases

CTDi5961.
GeneCardsiPRPH2.
GeneReviewsiPRPH2.
H-InvDBHIX0025091.
HGNCiHGNC:9942. PRPH2.
HPAiHPA029458.
MalaCardsiPRPH2.
MIMi136880. phenotype.
169150. phenotype.
179605. gene.
268000. phenotype.
608133. phenotype.
608161. phenotype.
613105. phenotype.
neXtProtiNX_P23942.
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.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3882. Eukaryota.
ENOG4111IRY. LUCA.
HOGENOMiHOG000026780.
HOVERGENiHBG004964.
InParanoidiP23942.
KOiK17343.
OrthoDBiEOG091G0956.
PhylomeDBiP23942.
TreeFamiTF331684.

Miscellaneous databases

ChiTaRSiPRPH2. human.
GeneWikiiPeripherin_2.
GenomeRNAii5961.
PROiP23942.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000112619.
CleanExiHS_PRPH.
HS_PRPH2.
GenevisibleiP23942. HS.

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]
ProtoNetiSearch...

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: September 7, 2016
This is version 162 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

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.