The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This enc... See more...

Aliases for PRPH2 Gene

Aliases for PRPH2 Gene

  • Peripherin 2 2 3 5
  • Peripherin 2 (Retinal Degeneration, Slow) 2 3
  • Retinal Degeneration Slow Protein 3 4
  • Tetraspanin-22 3 4
  • Peripherin-2 3 4
  • Tspan-22 3 4
  • TSPAN22 3 4
  • PRPH 3 4
  • RDS 3 4
  • Retinal Degeneration, Slow (Retinitis Pigmentosa 7) 2
  • Peripherin 2, Homolog Of Mouse 3
  • Peripherin, Photoreceptor Type 3
  • Retinal Degeneration, Slow 2
  • Retinal Peripherin 3
  • AOFMD 3
  • CACD2 3
  • MDBS1 3
  • AVMD 3
  • Rd2 3
  • RP7 3
  • DS 3

External Ids for PRPH2 Gene

Previous HGNC Symbols for PRPH2 Gene

  • RP7
  • RDS

Previous GeneCards Identifiers for PRPH2 Gene

  • GC06M042773
  • GC06M042664
  • GC06M042382
  • GC06M042922

Summaries for PRPH2 Gene

Entrez Gene Summary for PRPH2 Gene

  • The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein found in the outer segment of both rod and cone photoreceptor cells. It 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. This protein is essential for disk morphogenesis. Defects in this gene are associated with both central and peripheral retinal degenerations. Some of the various phenotypically different disorders are autosomal dominant retinitis pigmentosa, progressive macular degeneration, macular dystrophy and retinitis pigmentosa digenic. [provided by RefSeq, Jul 2008]

GeneCards Summary for PRPH2 Gene

PRPH2 (Peripherin 2) is a Protein Coding gene. Diseases associated with PRPH2 include Macular Dystrophy, Vitelliform, 3 and Retinitis Pigmentosa 7. An important paralog of this gene is ROM1.

UniProtKB/Swiss-Prot Summary for PRPH2 Gene

  • 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).

Gene Wiki entry for PRPH2 Gene

Additional gene information for PRPH2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PRPH2 Gene

Genomics for PRPH2 Gene

GeneHancer (GH) Regulatory Elements for PRPH2 Gene

Promoters and enhancers for PRPH2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH06J042725 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 509 -4.1 -4121 2.6 ZBTB40 CTCF ZNF639 ZNF10 AFF1 REST MEF2C MYC TOE1 CTBP1 PRPH2 ATP6V0CP3 lnc-BICRAL-2-001 lnc-BICRAL-2-002 piR-31415 piR-31667 piR-32169 piR-34983 piR-30519 piR-30685
GH06J042721 Enhancer 0.7 Ensembl 500.7 +1.8 1789 0.4 JUND ZKSCAN8 ZNF341 OSR2 KLF9 FOXA2 FOSL2 KLF8 ZFHX2 FOS PRPH2 piR-49550 RF00017-5547
GH06J042722 Promoter 0.3 EPDnew 500.7 +0.4 372 0.1 PRPH2 piR-49550 RF00017-5547
GH06J042563 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 57.3 +158.0 157957 3.5 FOXK2 ZBTB40 ZNF217 EP300 CTCF TCF12 NRF1 POLR2G NCOR1 PHF8 UBR2 PRPH2 ENSG00000219470 ZNF318 POLR1C CUL7 RRP36 BICRAL ENSG00000271754 TAF8
GH06J042710 Enhancer 0.9 FANTOM5 Ensembl ENCODE 79.7 +12.5 12488 1.4 RFX1 FOXA2 EGR1 VEZF1 SMARCE1 TAF1 SP1 MAZ IKZF1 LEF1 PRPH2 RNU6-890P RPL7L1 KLC4 RN7SL403P CUL7 piR-47828 piR-49550 RF00017-5547
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PRPH2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PRPH2

Top Transcription factor binding sites by QIAGEN in the PRPH2 gene promoter:
  • FOXO1
  • FOXO1a
  • LyF-1
  • Meis-1
  • Meis-1a
  • NRSF form 1
  • NRSF form 2
  • Pax-2
  • Pax-2a
  • RFX1

Genomic Locations for PRPH2 Gene

Genomic Locations for PRPH2 Gene
chr6:42,696,595-42,722,989
(GRCh38/hg38)
Size:
26,395 bases
Orientation:
Minus strand
chr6:42,664,333-42,690,358
(GRCh37/hg19)
Size:
26,026 bases
Orientation:
Minus strand

Genomic View for PRPH2 Gene

Genes around PRPH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PRPH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PRPH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PRPH2 Gene

Proteins for PRPH2 Gene

  • Protein details for PRPH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P23942-PRPH2_HUMAN
    Recommended name:
    Peripherin-2
    Protein Accession:
    P23942
    Secondary Accessions:
    • Q5TFH5
    • Q6DK65

    Protein attributes for PRPH2 Gene

    Size:
    346 amino acids
    Molecular mass:
    39186 Da
    Quaternary structure:
    • 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).

neXtProt entry for PRPH2 Gene

Post-translational modifications for PRPH2 Gene

  • Glycosylation at Asn53 and Asn229
  • Modification sites at PhosphoSitePlus

Other Protein References for PRPH2 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PRPH2 Gene

Domains & Families for PRPH2 Gene

Gene Families for PRPH2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Potential drug targets
  • Predicted membrane proteins
  • Transporters

Protein Domains for PRPH2 Gene

Blocks:
  • Transmembrane four family signature
  • Peripherin/rom-1 family
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PRPH2 Gene

GenScript: Design optimal peptide antigens:
  • Tetraspanin-22 (PRPH2_HUMAN)
  • Peripherin (Q16228_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P23942

UniProtKB/Swiss-Prot:

PRPH2_HUMAN :
  • Belongs to the PRPH2/ROM1 family.
Family:
  • Belongs to the PRPH2/ROM1 family.
genes like me logo Genes that share domains with PRPH2: view

Function for PRPH2 Gene

Molecular function for PRPH2 Gene

UniProtKB/Swiss-Prot Function:
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).

Phenotypes From GWAS Catalog for PRPH2 Gene

genes like me logo Genes that share phenotypes with PRPH2: view

Human Phenotype Ontology for PRPH2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for PRPH2 Gene

miRTarBase miRNAs that target PRPH2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPH2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Animal Models , Transcription Factor Targets and HOMER Transcription for PRPH2 Gene

Localization for PRPH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PRPH2 Gene

Membrane; Multi-pass membrane protein. Cell projection, cilium, photoreceptor outer segment. Photoreceptor inner segment.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PRPH2 gene
Compartment Confidence
plasma membrane 4
cytoskeleton 2
nucleus 2
extracellular 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PRPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IEA --
GO:0005887 integral component of plasma membrane IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane TAS 1749427
genes like me logo Genes that share ontologies with PRPH2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PRPH2 Gene

Pathways & Interactions for PRPH2 Gene

PathCards logo

SuperPathways for PRPH2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PRPH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007601 visual perception IEA,TAS --
GO:0060041 retina development in camera-type eye IEA --
genes like me logo Genes that share ontologies with PRPH2: view

No data available for Pathways by source and SIGNOR curated interactions for PRPH2 Gene

Drugs & Compounds for PRPH2 Gene

(2) Drugs for PRPH2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for PRPH2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with PRPH2: view

Transcripts for PRPH2 Gene

mRNA/cDNA for PRPH2 Gene

1 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PRPH2

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PRPH2 Gene

No ASD Table

Relevant External Links for PRPH2 Gene

GeneLoc Exon Structure for
PRPH2

Expression for PRPH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PRPH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for PRPH2 Gene

This gene is overexpressed in Muscle - Skeletal (x4.5).

Protein differential expression in normal tissues from HIPED for PRPH2 Gene

This gene is overexpressed in Retina (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PRPH2 Gene



Protein tissue co-expression partners for PRPH2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PRPH2

SOURCE GeneReport for Unigene cluster for PRPH2 Gene:

Hs.654489

mRNA Expression by UniProt/SwissProt for PRPH2 Gene:

P23942-PRPH2_HUMAN
Tissue specificity: Retina (photoreceptor). In rim region of ROS (rod outer segment) disks.

Evidence on tissue expression from TISSUES for PRPH2 Gene

  • Nervous system(4.4)
  • Eye(3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PRPH2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • head
  • lacrimal apparatus
  • middle ear
  • nose
  • outer ear
  • pituitary gland
  • skull
Thorax:
  • breast
Pelvis:
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vulva
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • red blood cell
  • skin
genes like me logo Genes that share expression patterns with PRPH2: view

Orthologs for PRPH2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for PRPH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PRPH2 31 30
  • 99.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PRPH2 31 30
  • 89.79 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PRPH2 31 30
  • 89.4 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Prph2 17 31 30
  • 87.38 (n)
rat
(Rattus norvegicus)
Mammalia Prph2 30
  • 86.9 (n)
oppossum
(Monodelphis domestica)
Mammalia PRPH2 31
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PRPH2 31
  • 77 (a)
OneToOne
chicken
(Gallus gallus)
Aves PRPH2 31 30
  • 77.2 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PRPH2 31
  • 74 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia prph2 30
  • 71.9 (n)
African clawed frog
(Xenopus laevis)
Amphibia rds38 30
zebrafish
(Danio rerio)
Actinopterygii prph2a 31 30
  • 66.57 (n)
OneToMany
prph2b 31
  • 62 (a)
OneToMany
rds4 30
Species where no ortholog for PRPH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for PRPH2 Gene

ENSEMBL:
Gene Tree for PRPH2 (if available)
TreeFam:
Gene Tree for PRPH2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PRPH2: view image

Paralogs for PRPH2 Gene

(1) SIMAP similar genes for PRPH2 Gene using alignment to 1 proteins:

  • PRPH2_HUMAN
genes like me logo Genes that share paralogs with PRPH2: view

Variants for PRPH2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PRPH2 Gene

SNP ID Clinical significance and condition Chr 06 pos Variation AA Info Type
478304 Likely Benign: PRPH2-Related Disorders 42,698,322(-) GT/AC MISSENSE_VARIANT
636073 Likely Pathogenic: Macular dystrophy 42,722,058(-) T/TG FRAMESHIFT_VARIANT
636074 Likely Pathogenic: Retinal dystrophy 42,721,857(-) G/A NONSENSE
636075 Likely Pathogenic: Retinitis pigmentosa 42,704,517(-) G/A NONSENSE
636076 Likely Pathogenic: Macular dystrophy 42,704,374(-) CCAAATGAGGAG/C FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for PRPH2 Gene

Structural Variations from Database of Genomic Variants (DGV) for PRPH2 Gene

Variant ID Type Subtype PubMed ID
nsv1017398 CNV gain 25217958
nsv507327 OTHER sequence alteration 20534489
nsv519124 CNV loss 19592680
nsv830650 CNV loss 17160897

Variation tolerance for PRPH2 Gene

Residual Variation Intolerance Score: 82.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.11; 38.45% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PRPH2 Gene

Human Gene Mutation Database (HGMD)
PRPH2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PRPH2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PRPH2 Gene

Disorders for PRPH2 Gene

MalaCards: The human disease database

(54) MalaCards diseases for PRPH2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PRPH2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PRPH2_HUMAN
  • 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. {ECO:0000269 PubMed:10627133, ECO:0000269 PubMed:11485765, ECO:0000269 PubMed:1427912, ECO:0000269 PubMed:16799052, ECO:0000269 PubMed:1684223, ECO:0000269 PubMed:1749427, ECO:0000269 PubMed:19038374, ECO:0000269 PubMed:22334370, ECO:0000269 PubMed:26796962, ECO:0000269 PubMed:7862413, ECO:0000269 PubMed:8020945}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Retinitis punctata albescens (RPA) [MIM:136880]: A 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular dystrophy, vitelliform, 3 (VMD3) [MIM:608161]: A 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. {ECO:0000269 PubMed:15370544, ECO:0000269 PubMed:17653047, ECO:0000269 PubMed:20213611, ECO:0000269 PubMed:26796962, ECO:0000269 PubMed:9338584}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Macular dystrophy, patterned, 1 (MDPT1) [MIM:169150]: A 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. {ECO:0000269 PubMed:16024869, ECO:0000269 PubMed:26796962, ECO:0000269 PubMed:8485574, ECO:0000269 PubMed:9443872}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Choroidal dystrophy, central areolar 2 (CACD2) [MIM:613105]: A 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. {ECO:0000269 PubMed:16832026, ECO:0000269 PubMed:19038374, ECO:0000269 PubMed:20213611, ECO:0000269 PubMed:26796962}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Note=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. {ECO:0000269 PubMed:20335603}.

Additional Disease Information for PRPH2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with PRPH2: view

No data available for Genatlas for PRPH2 Gene

Publications for PRPH2 Gene

  1. Phenotypic variability and long-term follow-up of patients with known and novel PRPH2/RDS gene mutations. (PMID: 19038374) Renner AB … Kellner U (American journal of ophthalmology 2009) 3 4 23 54
  2. High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. (PMID: 17653047) Gamundi MJ … Carballo M (Molecular vision 2007) 3 4 41 54
  3. Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration. (PMID: 8956033) Keen TJ … Inglehearn CF (Human mutation 1996) 3 4 23 54
  4. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. (PMID: 8485574) Nichols BE … Stone EM (Nature genetics 1993) 3 4 23 54
  5. Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. (PMID: 1684223) Kajiwara K … Dryja TP (Nature 1991) 3 4 23 54

Products for PRPH2 Gene

Sources for PRPH2 Gene