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P23942 (PRPH2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 143. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Peripherin-2
Alternative name(s):
Retinal degeneration slow protein
Tetraspanin-22
Short name=Tspan-22
Gene names
Name:PRPH2
Synonyms:PRPH, RDS, TSPAN22
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length346 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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.

Subunit structure

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

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

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

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7 Ref.8 Ref.13 Ref.16 Ref.20 Ref.24

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.18 Ref.22

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.23

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.

Sequence similarities

Belongs to the PRPH2/ROM1 family.

Ontologies

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 346346Peripherin-2
PRO_0000168105

Regions

Topological domain1 – 2424Cytoplasmic Potential
Transmembrane25 – 4319Helical; Potential
Topological domain44 – 6118Lumenal Potential
Transmembrane62 – 8019Helical; Potential
Topological domain81 – 9919Cytoplasmic Potential
Transmembrane100 – 12324Helical; Potential
Topological domain124 – 264141Lumenal Potential
Transmembrane265 – 29026Helical; Potential
Topological domain291 – 34656Cytoplasmic Potential
Region341 – 3466Interaction with MREG By similarity

Amino acid modifications

Glycosylation531N-linked (GlcNAc...) Potential
Glycosylation2291N-linked (GlcNAc...) Potential

Natural variations

Natural variant131R → W in RP7; in combination with a null mutation of ROM1.
VAR_006853
Natural variant321I → V in some patients with macular dystrophy.
VAR_006854
Natural variant451L → F in RP7; in combination with a null mutation of ROM1.
Corresponds to variant rs61755770 [ dbSNP | Ensembl ].
VAR_006855
Natural variant671Missing in PDREP; also in cone-rod dystrophy.
VAR_006856
Natural variant681G → R in PDREP; also in cone-rod dystrophy.
VAR_006857
Natural variant1181Missing in RP7. Ref.6
VAR_006858
Natural variant1261L → R in RP7.
VAR_006859
Natural variant1421R → W in RP7; also found in a patient with central areolar choroidal dystrophy. Ref.24
VAR_006860
Natural variant1531K → R in RP7.
VAR_006861
Natural variant1531Missing in RP7.
VAR_006862
Natural variant1571D → N in PDREP.
VAR_006863
Natural variant1651C → Y in RP7.
VAR_006864
Natural variant1671G → D in PDREP; butterfly-shaped. Ref.10
VAR_006865
Natural variant1671G → S in PDREP; butterfly-shaped. Ref.22
VAR_032052
Natural variant1691Missing in some patients with macular dystrophy. Ref.21
VAR_032053
Natural variant1721R → G in PDREP; butterfly-shaped.
VAR_006866
Natural variant1721R → Q in some patients with macular dystrophy. Ref.11
VAR_006867
Natural variant1721R → W in some patients with macular dystrophy; also in a family affected by central areolar choroidal dystrophy. Ref.11 Ref.14 Ref.18
VAR_006868
Natural variant1731D → V in RP7.
VAR_006869
Natural variant1841Y → S in cone-rod dystrophy.
VAR_006870
Natural variant1851L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. Ref.7
VAR_006871
Natural variant1931Missing in PDREP; also in cone-rod dystrophy.
VAR_006872
Natural variant1951R → L in CACD2. Ref.23
Corresponds to variant rs121918567 [ dbSNP | Ensembl ].
VAR_032054
Natural variant2081G → D in RP7. Ref.20
VAR_006873
Natural variant2101P → R in PDREP and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. Ref.12 Ref.16 Ref.18
VAR_006874
Natural variant2101P → S in RP7.
VAR_006875
Natural variant2111F → L in RP7.
VAR_006876
Natural variant2121S → G in RP7. Ref.8
VAR_006877
Natural variant2121S → T in AVMD. Ref.17
VAR_006878
Natural variant2131C → R in PDREP. Ref.18
VAR_006879
Natural variant2141C → S in RP7.
VAR_006880
Natural variant2161P → L in RP7. Ref.7
VAR_006881
Natural variant2161P → S in RP7.
VAR_006882
Natural variant2191P → R in some patients with macular dystrophy. Ref.18
VAR_006883
Natural variant2191Missing in RP7. Ref.7
VAR_006884
Natural variant2201R → Q in PDREP.
VAR_006885
Natural variant2201R → W in PDREP. Ref.18
VAR_006886
Natural variant2441N → H in cone-rod dystrophy.
VAR_006888
Natural variant2441N → K in RP7; with bulls-eye maculopathy. Ref.13
VAR_006887
Natural variant2661G → D in RP7.
VAR_006889
Natural variant2681V → I in AVMD. Ref.17
VAR_006890
Natural variant3041E → Q Associated with D-338 on the same haplotype. Ref.3
Corresponds to variant rs390659 [ dbSNP | Ensembl ].
VAR_006891
Natural variant3051G → D in AVMD. Ref.17
VAR_006892
Natural variant3101K → R. Ref.3
Corresponds to variant rs425876 [ dbSNP | Ensembl ].
VAR_006893
Natural variant3131P → L. Ref.19
Corresponds to variant rs61748434 [ dbSNP | Ensembl ].
VAR_006894
Natural variant3381G → D Associated with Q-304 on the same haplotype. Ref.3
Corresponds to variant rs434102 [ dbSNP | Ensembl ].
VAR_006895

Experimental info

Sequence conflict441E → G in AAH74720. Ref.4

Sequences

Sequence LengthMass (Da)Tools
P23942 [UniParc].

Last modified March 1, 1992. Version 1.
Checksum: 2BB3C5415E194D2A

FASTA34639,186
        10         20         30         40         50         60 
MALLKVKFDQ KKRVKLAQGL WLMNWFSVLA GIIIFSLGLF LKIELRKRSD VMNNSESHFV 

        70         80         90        100        110        120 
PNSLIGMGVL SCVFNSLAGK ICYDALDPAK YARWKPWLKP YLAICVLFNI ILFLVALCCF 

       130        140        150        160        170        180 
LLRGSLENTL GQGLKNGMKY YRDTDTPGRC FMKKTIDMLQ IEFKCCGNNG FRDWFEIQWI 

       190        200        210        220        230        240 
SNRYLDFSSK EVKDRIKSNV DGRYLVDGVP FSCCNPSSPR PCIQYQITNN SAHYSYDHQT 

       250        260        270        280        290        300 
EELNLWVRGC RAALLSYYSS LMNSMGVVTL LIWLFEVTIT IGLRYLQTSL DGVSNPEESE 

       310        320        330        340 
SESEGWLLEK SVPETWKAFL ESVKKLGKGN QVEAEGAGAG QAPEAG 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Erratum
Farrar G.J., Kenna P., Jordan S.A., Kumar-Singh R., Humphries M.M., Sharp E.M., Sheils D.M., Humphries P.
Genomics 15:466-466(1993) [PubMed] [Europe PMC] [Abstract]
[10]"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.
[11]"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.
[12]"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.
[13]"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.
[14]"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.
[15]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)
[16]"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.
[17]"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.
[18]"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.
[19]"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.
[20]"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.
[21]"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.
[22]"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.
[23]"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.
[24]"Next-generation genetic testing for retinitis pigmentosa."
Neveling K., Collin R.W., Gilissen C., van Huet R.A., Visser L., Kwint M.P., Gijsen S.J., Zonneveld M.N., Wieskamp N., de Ligt J., Siemiatkowska A.M., Hoefsloot L.H., Buckley M.F., Kellner U., Branham K.E., den Hollander A.I., Hoischen A., Hoyng C. expand/collapse author list , Klevering B.J., van den Born L.I., Veltman J.A., Cremers F.P., Scheffer H.
Hum. Mutat. 33:963-972(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT RP7 TRP-142.
+Additional computationally mapped references.

Web resources

Mutations of the RDS gene

Retina International's Scientific Newsletter

GeneReviews

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
M73531 mRNA. Translation: AAA60260.1.
U07149, U07147, U07148 Genomic DNA. Translation: AAA16958.1.
AL049843 Genomic DNA. Translation: CAB75420.1.
BC074720 mRNA. Translation: AAH74720.1.
PIRA40308.
RefSeqNP_000313.2. NM_000322.4.
UniGeneHs.654489.

3D structure databases

ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

STRING9606.ENSP00000230381.

Protein family/group databases

TCDB8.A.40.1.3. the tetraspanin (tetraspanin) family.

PTM databases

PhosphoSiteP23942.

Polymorphism databases

DMDM132212.

Proteomic databases

PaxDbP23942.
PRIDEP23942.

Protocols and materials databases

DNASU5961.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000230381; ENSP00000230381; ENSG00000112619.
GeneID5961.
KEGGhsa:5961.
UCSCuc003osk.3. human.

Organism-specific databases

CTD5961.
GeneCardsGC06M042664.
H-InvDBHIX0025091.
HGNCHGNC:9942. PRPH2.
HPAHPA029458.
MIM136880. phenotype.
169150. phenotype.
179605. gene.
268000. phenotype.
608133. phenotype.
608161. phenotype.
613105. phenotype.
neXtProtNX_P23942.
Orphanet99000. 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.
PharmGKBPA34310.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG237707.
HOGENOMHOG000026780.
HOVERGENHBG004964.
InParanoidP23942.
KOK17343.
OrthoDBEOG7T1RBG.
PhylomeDBP23942.
TreeFamTF331684.

Gene expression databases

BgeeP23942.
CleanExHS_PRPH.
HS_PRPH2.
GenevestigatorP23942.

Family and domain databases

InterProIPR000830. Peripherin/rom-1.
IPR018498. Peripherin/rom-1_CS.
IPR018499. Tetraspanin/Peripherin.
IPR008952. Tetraspanin_EC2.
[Graphical view]
PfamPF00335. Tetraspannin. 1 hit.
[Graphical view]
PRINTSPR00218. PERIPHERNRDS.
SUPFAMSSF48652. SSF48652. 2 hits.
PROSITEPS00930. RDS_ROM1. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPeripherin_2.
GenomeRNAi5961.
NextBio23208.
PROP23942.
SOURCESearch...

Entry information

Entry namePRPH2_HUMAN
AccessionPrimary (citable) accession number: P23942
Secondary accession number(s): Q5TFH5, Q6DK65
Entry history
Integrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: April 16, 2014
This is version 143 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM