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UniProtKB - P23942 (PRPH2_HUMAN)

Entry version 188 (17 Jun 2020)
Sequence version 1 (01 Mar 1992)
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Protein

Peripherin-2

Gene

PRPH2

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

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the 'correct annotation' for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the 'protein existence' evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity).By similarity

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Complete GO annotation on QuickGO ...

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

Biological processCell adhesion, Sensory transduction, Vision

Protein family/group databases

Transport Classification Database

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

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Peripherin-2
Alternative name(s):
Retinal degeneration slow protein
Tetraspanin-22
Short name:
Tspan-22
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: 'Name', 'Synonyms', 'Ordered locus names' and 'ORF names'.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:PRPH2
Synonyms:PRPH, RDS, TSPAN22
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the 'taxonomic identifier' or 'taxid'.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes%5Fmanual">proteome</a> can consist of several components.<br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 6

Organism-specific databases

Eukaryotic Pathogen Database Resources

More...EuPathDBi		HostDB:ENSG00000112619.7

Human Gene Nomenclature Database

More...HGNCi		HGNC:9942 PRPH2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		179605 gene

neXtProt; the human protein knowledge platform

More...neXtProti		NX_P23942

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte & Seán O’Donoghue; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini1 – 24CytoplasmicSequence analysisAdd BLAST24
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular%5Flocation%5Fsection">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei25 – 43HelicalSequence analysisAdd BLAST19
Topological domaini44 – 61LumenalSequence analysisAdd BLAST18
Transmembranei62 – 80HelicalSequence analysisAdd BLAST19
Topological domaini81 – 99CytoplasmicSequence analysisAdd BLAST19
Transmembranei100 – 123HelicalSequence analysisAdd BLAST24
Topological domaini124 – 264LumenalSequence analysisAdd BLAST141
Transmembranei265 – 290HelicalSequence analysisAdd BLAST26
Topological domaini291 – 346CytoplasmicSequence analysisAdd BLAST56

Keywords - Cellular componenti

Cell projection, Membrane

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the 'Pathology and Biotech' section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Retinitis pigmentosa 7 (RP7)11 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00685313R → W in RP7; in combination with a null mutation of ROM1. Corresponds to variant dbSNP:rs61754402EnsemblClinVar.1
Natural variantiVAR_00685545L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs61755770EnsemblClinVar.1
Natural variantiVAR_006858118Missing in RP7. 1 Publication1
Natural variantiVAR_075759126L → P in RP7. 1 Publication1
Natural variantiVAR_006859126L → R in RP7. 1
Natural variantiVAR_075761141Y → C in RP7 and VMD3. 2 PublicationsCorresponds to variant dbSNP:rs61755781EnsemblClinVar.1
Natural variantiVAR_006860142R → W in RP7; also found in a patient with central areolar choroidal dystrophy. 1 PublicationCorresponds to variant dbSNP:rs61755783EnsemblClinVar.1
Natural variantiVAR_006861153K → R in RP7. Corresponds to variant dbSNP:rs61755785EnsemblClinVar.1
Natural variantiVAR_006862153Missing in RP7. 1
Natural variantiVAR_006864165C → Y in RP7. Corresponds to variant dbSNP:rs61755788EnsemblClinVar.1
Natural variantiVAR_006869173D → V in RP7. Corresponds to variant dbSNP:rs61755794EnsemblClinVar.1
Natural variantiVAR_006871185L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs121918563EnsemblClinVar.1
Natural variantiVAR_075762198S → R in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006873208G → D in RP7. 1 PublicationCorresponds to variant dbSNP:rs139185976EnsemblClinVar.1
Natural variantiVAR_075764210P → L in RP7; decreased protein expression. 2 PublicationsCorresponds to variant dbSNP:rs61755798EnsemblClinVar.1
Natural variantiVAR_006874210P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 PublicationsCorresponds to variant dbSNP:rs61755798EnsemblClinVar.1
Natural variantiVAR_006875210P → S in RP7. Corresponds to variant dbSNP:rs61755797EnsemblClinVar.1
Natural variantiVAR_006876211F → L in RP7. Corresponds to variant dbSNP:rs61755799EnsemblClinVar.1
Natural variantiVAR_006877212S → G in RP7. 1 PublicationCorresponds to variant dbSNP:rs61755800EnsemblClinVar.1
Natural variantiVAR_006880214C → S in RP7; decreased protein expression. 1 PublicationCorresponds to variant dbSNP:rs61755804EnsemblClinVar.1
Natural variantiVAR_075765216P → A in RP7. 1 Publication1
Natural variantiVAR_006881216P → L in RP7. 1 PublicationCorresponds to variant dbSNP:rs61755806EnsemblClinVar.1
Natural variantiVAR_075766216P → R in RP7. 1 Publication1
Natural variantiVAR_006882216P → S in RP7. Corresponds to variant dbSNP:rs61755805EnsemblClinVar.1
Natural variantiVAR_006884219Missing in RP7. 1 Publication1
Natural variantiVAR_006887244N → K in RP7; with bulls-eye maculopathy. 1 PublicationCorresponds to variant dbSNP:rs61755816EnsemblClinVar.1
Natural variantiVAR_075768249G → S in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006889266G → D in RP7. Corresponds to variant dbSNP:rs62645935EnsemblClinVar.1
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.
Related information in OMIM
Macular dystrophy, vitelliform, 3 (VMD3)5 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00685545L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs61755770EnsemblClinVar.1
Natural variantiVAR_075761141Y → C in RP7 and VMD3. 2 PublicationsCorresponds to variant dbSNP:rs61755781EnsemblClinVar.1
Natural variantiVAR_075763209V → I in VMD3; increased protein expression. 2 PublicationsCorresponds to variant dbSNP:rs753657349Ensembl.1
Natural variantiVAR_006878212S → T in VMD3. 1 PublicationCorresponds to variant dbSNP:rs61755801EnsemblClinVar.1
Natural variantiVAR_071974213C → F in VMD3. 1 Publication1
Natural variantiVAR_071975237 – 240Missing in VMD3. 1 Publication4
Natural variantiVAR_006890268V → I in VMD3. 1 PublicationCorresponds to variant dbSNP:rs62645936EnsemblClinVar.1
Natural variantiVAR_006892305G → D in VMD3. 1 PublicationCorresponds to variant dbSNP:rs61748432EnsemblClinVar.1
Macular dystrophy, patterned, 1 (MDPT1)4 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.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00685667Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_00685768G → R in MDPT1; also in cone-rod dystrophy. Corresponds to variant dbSNP:rs61755774EnsemblClinVar.1
Natural variantiVAR_006863157D → N in MDPT1. Corresponds to variant dbSNP:rs61755787EnsemblClinVar.1
Natural variantiVAR_006865167G → D in MDPT1; butterfly-shaped. 1 PublicationCorresponds to variant dbSNP:rs61755789EnsemblClinVar.1
Natural variantiVAR_032052167G → S in MDPT1; butterfly-shaped. 1 PublicationCorresponds to variant dbSNP:rs527236098EnsemblClinVar.1
Natural variantiVAR_006866172R → G in MDPT1; butterfly-shaped. Corresponds to variant dbSNP:rs61755792EnsemblClinVar.1
Natural variantiVAR_006872193Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_006874210P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 PublicationsCorresponds to variant dbSNP:rs61755798EnsemblClinVar.1
Natural variantiVAR_006879213C → R in MDPT1. 1 PublicationCorresponds to variant dbSNP:rs61755802EnsemblClinVar.1
Natural variantiVAR_006885220R → Q in MDPT1; increased protein expression. 1 PublicationCorresponds to variant dbSNP:rs61755810EnsemblClinVar.1
Natural variantiVAR_006886220R → W in MDPT1. 1 PublicationCorresponds to variant dbSNP:rs61755809EnsemblClinVar.1
Choroidal dystrophy, central areolar 2 (CACD2)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of central areolar choroidal dystrophy, a retinal disease that affects the macula and results in a well-demarcated circumscribed area of atrophy of the pigment epithelium and choriocapillaris.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_075758123R → W in CACD2. 1 PublicationCorresponds to variant dbSNP:rs563581127EnsemblClinVar.1
Natural variantiVAR_032054195R → L in CACD2; increased protein expression. 3 PublicationsCorresponds to variant dbSNP:rs121918567EnsemblClinVar.1
Natural variantiVAR_075767221P → L in CACD2. 1 Publication1
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.1 Publication

Keywords - Diseasei

Cone-rod dystrophy, Disease mutation, Retinitis pigmentosa

Organism-specific databases

DisGeNET

More...DisGeNETi		5961

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

More...GeneReviewsi		PRPH2

MalaCards human disease database

More...MalaCardsi		PRPH2
MIMi136880 phenotype
169150 phenotype
268000 phenotype
608133 phenotype
608161 phenotype
613105 phenotype

Orphanet; a database dedicated to information on rare diseases and orphan drugs

More...Orphaneti		99000 Adult-onset foveomacular vitelliform dystrophy
99001 Butterfly-shaped pigment dystrophy
75377 Central areolar choroidal dystrophy
1872 Cone rod dystrophy
227796 Fundus albipunctatus
99003 Multifocal pattern dystrophy simulating fundus flavimaculatus
791 Retinitis pigmentosa
52427 Retinitis punctata albescens
827 Stargardt disease

The Pharmacogenetics and Pharmacogenomics Knowledge Base

More...PharmGKBi		PA34310

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P23942 Tbio

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		PRPH2

Domain mapping of disease mutations (DMDM)

More...DMDMi		132212

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'PTM / Processing' section describes the extent of a polypeptide chain in the mature protein following processing or proteolytic cleavage.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001681051 – 346Peripherin-2Add BLAST346

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi53N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi150Interchain (with ROM1)By similarity
Glycosylationi229N-linked (GlcNAc...) asparagineSequence analysis1

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		P23942

PaxDb, a database of protein abundance averages across all three domains of life

More...PaxDbi		P23942

PeptideAtlas

More...PeptideAtlasi		P23942

PRoteomics IDEntifications database

More...PRIDEi		P23942

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		54167

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P23942

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

More...PhosphoSitePlusi		P23942

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

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

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...Bgeei		ENSG00000112619 Expressed in biceps brachii and 119 other tissues

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P23942 HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000112619 Tissue enriched (retina)

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Homodimer; disulfide-linked (By similarity).

Forms a homotetramer (By similarity).

Forms a heterotetramer with ROM1 (By similarity). Homotetramer and heterotetramer core complexes go on to form higher order complexes by formation of intermolecular disulfide bonds (By similarity).

Interacts with MREG (By similarity).

Interacts with STX3 (By similarity).

Interacts with SNAP25 (By similarity).

By similarity

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		111893, 2 interactors

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000230381

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P23942 protein

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Family and Domains' section describes a region of interest that cannot be described in other subsections.<p><a href='/help/region' target='_top'>More...</a></p>Regioni341 – 346Interaction with MREGBy similarity6

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the PRPH2/ROM1 family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...eggNOGi		KOG3882 Eukaryota
ENOG4111IRY LUCA

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...HOGENOMi		CLU_068903_0_0_1

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P23942

KEGG Orthology (KO)

More...KOi		K17343

Database of Orthologous Groups

More...OrthoDBi		1470436at2759

Database for complete collections of gene phylogenies

More...PhylomeDBi		P23942

TreeFam database of animal gene trees

More...TreeFami		TF331684

Family and domain databases

Conserved Domains Database

More...CDDi		cd03162 peripherin_like_LEL, 1 hit

Gene3D Structural and Functional Annotation of Protein Families

More...Gene3Di		1.10.1450.10, 1 hit

Integrated resource of protein families, domains and functional sites

More...InterProi		View protein in InterPro
IPR000830 Peripherin/rom-1
IPR018498 Peripherin/rom-1_CS
IPR042026 Peripherin_LEL
IPR018499 Tetraspanin/Peripherin
IPR008952 Tetraspanin_EC2_sf

Pfam protein domain database

More...Pfami		View protein in Pfam
PF00335 Tetraspanin, 1 hit

Protein Motif fingerprint database; a protein domain database

More...PRINTSi		PR00218 PERIPHERNRDS

Superfamily database of structural and functional annotation

More...SUPFAMi		SSF48652 SSF48652, 1 hit

PROSITE; a protein domain and family database

More...PROSITEi		View protein in PROSITE
PS00930 RDS_ROM1, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequencei

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>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
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i2BB3C5415E194D2A
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the 'Sequence' section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti44E → G in AAH74720 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00685313R → W in RP7; in combination with a null mutation of ROM1. Corresponds to variant dbSNP:rs61754402EnsemblClinVar.1
Natural variantiVAR_00685432I → V in some patients with macular dystrophy. Corresponds to variant dbSNP:rs61755767EnsemblClinVar.1
Natural variantiVAR_00685545L → F in RP7 and VMD3; results in retinitis pigmentosa in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs61755770EnsemblClinVar.1
Natural variantiVAR_00685667Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_00685768G → R in MDPT1; also in cone-rod dystrophy. Corresponds to variant dbSNP:rs61755774EnsemblClinVar.1
Natural variantiVAR_006858118Missing in RP7. 1 Publication1
Natural variantiVAR_075758123R → W in CACD2. 1 PublicationCorresponds to variant dbSNP:rs563581127EnsemblClinVar.1
Natural variantiVAR_075759126L → P in RP7. 1 Publication1
Natural variantiVAR_006859126L → R in RP7. 1
Natural variantiVAR_075760137G → S1 PublicationCorresponds to variant dbSNP:rs781256236Ensembl.1
Natural variantiVAR_075761141Y → C in RP7 and VMD3. 2 PublicationsCorresponds to variant dbSNP:rs61755781EnsemblClinVar.1
Natural variantiVAR_006860142R → W in RP7; also found in a patient with central areolar choroidal dystrophy. 1 PublicationCorresponds to variant dbSNP:rs61755783EnsemblClinVar.1
Natural variantiVAR_006861153K → R in RP7. Corresponds to variant dbSNP:rs61755785EnsemblClinVar.1
Natural variantiVAR_006862153Missing in RP7. 1
Natural variantiVAR_006863157D → N in MDPT1. Corresponds to variant dbSNP:rs61755787EnsemblClinVar.1
Natural variantiVAR_006864165C → Y in RP7. Corresponds to variant dbSNP:rs61755788EnsemblClinVar.1
Natural variantiVAR_006865167G → D in MDPT1; butterfly-shaped. 1 PublicationCorresponds to variant dbSNP:rs61755789EnsemblClinVar.1
Natural variantiVAR_032052167G → S in MDPT1; butterfly-shaped. 1 PublicationCorresponds to variant dbSNP:rs527236098EnsemblClinVar.1
Natural variantiVAR_032053169Missing in some patients with macular dystrophy. 1 Publication1
Natural variantiVAR_006866172R → G in MDPT1; butterfly-shaped. Corresponds to variant dbSNP:rs61755792EnsemblClinVar.1
Natural variantiVAR_006867172R → Q in some patients with macular dystrophy. 1 PublicationCorresponds to variant dbSNP:rs61755793EnsemblClinVar.1
Natural variantiVAR_006868172R → W in some patients with macular dystrophy; also in a family affected by central areolar choroidal dystrophy. 3 PublicationsCorresponds to variant dbSNP:rs61755792EnsemblClinVar.1
Natural variantiVAR_006869173D → V in RP7. Corresponds to variant dbSNP:rs61755794EnsemblClinVar.1
Natural variantiVAR_006870184Y → S in cone-rod dystrophy. Corresponds to variant dbSNP:rs62645926EnsemblClinVar.1
Natural variantiVAR_006871185L → P in RP7; digenic inheritance; results in disease in combination with a null mutation of ROM1. 1 PublicationCorresponds to variant dbSNP:rs121918563EnsemblClinVar.1
Natural variantiVAR_006872193Missing in MDPT1; also in cone-rod dystrophy. 1
Natural variantiVAR_032054195R → L in CACD2; increased protein expression. 3 PublicationsCorresponds to variant dbSNP:rs121918567EnsemblClinVar.1
Natural variantiVAR_075762198S → R in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006873208G → D in RP7. 1 PublicationCorresponds to variant dbSNP:rs139185976EnsemblClinVar.1
Natural variantiVAR_075763209V → I in VMD3; increased protein expression. 2 PublicationsCorresponds to variant dbSNP:rs753657349Ensembl.1
Natural variantiVAR_075764210P → L in RP7; decreased protein expression. 2 PublicationsCorresponds to variant dbSNP:rs61755798EnsemblClinVar.1
Natural variantiVAR_006874210P → R in MDPT1 and RP7; also in adult-onset foveomacular dystrophy with choroidal neovascularization. 3 PublicationsCorresponds to variant dbSNP:rs61755798EnsemblClinVar.1
Natural variantiVAR_006875210P → S in RP7. Corresponds to variant dbSNP:rs61755797EnsemblClinVar.1
Natural variantiVAR_006876211F → L in RP7. Corresponds to variant dbSNP:rs61755799EnsemblClinVar.1
Natural variantiVAR_006877212S → G in RP7. 1 PublicationCorresponds to variant dbSNP:rs61755800EnsemblClinVar.1
Natural variantiVAR_006878212S → T in VMD3. 1 PublicationCorresponds to variant dbSNP:rs61755801EnsemblClinVar.1
Natural variantiVAR_071974213C → F in VMD3. 1 Publication1
Natural variantiVAR_006879213C → R in MDPT1. 1 PublicationCorresponds to variant dbSNP:rs61755802EnsemblClinVar.1
Natural variantiVAR_006880214C → S in RP7; decreased protein expression. 1 PublicationCorresponds to variant dbSNP:rs61755804EnsemblClinVar.1
Natural variantiVAR_075765216P → A in RP7. 1 Publication1
Natural variantiVAR_006881216P → L in RP7. 1 PublicationCorresponds to variant dbSNP:rs61755806EnsemblClinVar.1
Natural variantiVAR_075766216P → R in RP7. 1 Publication1
Natural variantiVAR_006882216P → S in RP7. Corresponds to variant dbSNP:rs61755805EnsemblClinVar.1
Natural variantiVAR_006883219P → R in some patients with macular dystrophy. 1 PublicationCorresponds to variant dbSNP:rs61755808EnsemblClinVar.1
Natural variantiVAR_006884219Missing in RP7. 1 Publication1
Natural variantiVAR_006885220R → Q in MDPT1; increased protein expression. 1 PublicationCorresponds to variant dbSNP:rs61755810EnsemblClinVar.1
Natural variantiVAR_006886220R → W in MDPT1. 1 PublicationCorresponds to variant dbSNP:rs61755809EnsemblClinVar.1
Natural variantiVAR_075767221P → L in CACD2. 1 Publication1
Natural variantiVAR_071975237 – 240Missing in VMD3. 1 Publication4
Natural variantiVAR_006888244N → H in cone-rod dystrophy. Corresponds to variant dbSNP:rs61755815EnsemblClinVar.1
Natural variantiVAR_006887244N → K in RP7; with bulls-eye maculopathy. 1 PublicationCorresponds to variant dbSNP:rs61755816EnsemblClinVar.1
Natural variantiVAR_075768249G → S in RP7; decreased protein expression. 2 Publications1
Natural variantiVAR_006889266G → D in RP7. Corresponds to variant dbSNP:rs62645935EnsemblClinVar.1
Natural variantiVAR_006890268V → I in VMD3. 1 PublicationCorresponds to variant dbSNP:rs62645936EnsemblClinVar.1
Natural variantiVAR_006891304E → Q Polymorphism; associated with D-338 on the same haplotype. 2 PublicationsCorresponds to variant dbSNP:rs390659Ensembl.1
Natural variantiVAR_006892305G → D in VMD3. 1 PublicationCorresponds to variant dbSNP:rs61748432EnsemblClinVar.1
Natural variantiVAR_006893310K → R1 PublicationCorresponds to variant dbSNP:rs425876Ensembl.1
Natural variantiVAR_006894313P → L1 PublicationCorresponds to variant dbSNP:rs61748434EnsemblClinVar.1
Natural variantiVAR_006895338G → D Polymorphism; associated with Q-304 on the same haplotype. 2 PublicationsCorresponds to variant dbSNP:rs434102Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...EMBLi

GenBank nucleotide sequence database

More...GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...DDBJi
Links Updated
M73531 mRNA Translation: AAA60260.1
U07149, U07147, U07148 Genomic DNA Translation: AAA16958.1
AL049843 Genomic DNA No translation available.
BC074720 mRNA Translation: AAH74720.1

The Consensus CDS (CCDS) project

More...CCDSi		CCDS4871.1

Protein sequence database of the Protein Information Resource

More...PIRi		A40308

NCBI Reference Sequences

More...RefSeqi		NP_000313.2, NM_000322.4

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000230381; ENSP00000230381; ENSG00000112619

Database of genes from NCBI RefSeq genomes

More...GeneIDi		5961

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...KEGGi		hsa:5961

UCSC genome browser

More...UCSCi		uc003osk.4 human

Keywords - Coding sequence diversityi

Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross%5Freferences%5Fsection">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>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 No translation available.
BC074720 mRNA Translation: AAH74720.1
CCDSiCCDS4871.1
PIRiA40308
RefSeqiNP_000313.2, NM_000322.4

3D structure databases

Database of comparative protein structure models

More...ModBasei		Search...

SWISS-MODEL Interactive Workspace

More...SWISS-MODEL-Workspacei		Submit a new modelling project...

Protein-protein interaction databases

BioGRIDi111893, 2 interactors
STRINGi9606.ENSP00000230381

Protein family/group databases

TCDBi8.A.40.1.3 the tetraspanin (tetraspanin) family

PTM databases

iPTMnetiP23942
PhosphoSitePlusiP23942

Polymorphism and mutation databases

BioMutaiPRPH2
DMDMi132212

Proteomic databases

MassIVEiP23942
PaxDbiP23942
PeptideAtlasiP23942
PRIDEiP23942
ProteomicsDBi54167

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		30169 65 antibodies

The DNASU plasmid repository

More...DNASUi		5961

Genome annotation databases

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

Organism-specific databases

Comparative Toxicogenomics Database

More...CTDi		5961
DisGeNETi5961
EuPathDBiHostDB:ENSG00000112619.7

GeneCards: human genes, protein and diseases

More...GeneCardsi		PRPH2
GeneReviewsiPRPH2
HGNCiHGNC:9942 PRPH2
HPAiENSG00000112619 Tissue enriched (retina)
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
99003 Multifocal pattern dystrophy simulating fundus flavimaculatus
791 Retinitis pigmentosa
52427 Retinitis punctata albescens
827 Stargardt disease
PharmGKBiPA34310

GenAtlas: human gene database

More...GenAtlasi		Search...

Phylogenomic databases

eggNOGiKOG3882 Eukaryota
ENOG4111IRY LUCA
HOGENOMiCLU_068903_0_0_1
InParanoidiP23942
KOiK17343
OrthoDBi1470436at2759
PhylomeDBiP23942
TreeFamiTF331684

Miscellaneous databases

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		5961 16 hits in 779 CRISPR screens

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...ChiTaRSi		PRPH2 human

The Gene Wiki collection of pages on human genes and proteins

More...GeneWikii		Peripherin_2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...GenomeRNAii		5961
PharosiP23942 Tbio

Protein Ontology

More...PROi		PR:P23942
RNActiP23942 protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000112619 Expressed in biceps brachii and 119 other tissues
GenevisibleiP23942 HS

Family and domain databases

CDDicd03162 peripherin_like_LEL, 1 hit
Gene3Di1.10.1450.10, 1 hit
InterProiView protein in InterPro
IPR000830 Peripherin/rom-1
IPR018498 Peripherin/rom-1_CS
IPR042026 Peripherin_LEL
IPR018499 Tetraspanin/Peripherin
IPR008952 Tetraspanin_EC2_sf
PfamiView protein in Pfam
PF00335 Tetraspanin, 1 hit
PRINTSiPR00218 PERIPHERNRDS
SUPFAMiSSF48652 SSF48652, 1 hit
PROSITEiView protein in PROSITE
PS00930 RDS_ROM1, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...ProtoNeti		Search...

MobiDB: a database of protein disorder and mobility annotations

More...MobiDBi		Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the 'Entry information' section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiPRPH2_HUMAN
<p>This subsection of the 'Entry information' section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called 'Primary (citable) accession number'.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P23942
Secondary accession number(s): Q5TFH5, Q6DK65
<p>This subsection of the 'Entry information' section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification ('Last modified'). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: March 1, 1992
Last sequence update: March 1, 1992
Last modified: June 17, 2020
This is version 188 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the 'Entry information' section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>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.

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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