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PRPH2 (peripherin 2)

Identity

Alias_namesRP7
RDS
retinal degeneration, slow (retinitis pigmentosa 7)
retinal degeneration, slow
peripherin 2 (retinal degeneration, slow)
Alias_symbol (synonym)TSPAN22
rd2
CACD2
Other aliasAOFMD
AVMD
DS
MDBS1
PRPH
HGNC (Hugo) PRPH2
LocusID (NCBI) 5961
Atlas_Id 49883
Location 6p21.1  [Link to chromosome band 6p21]
Location_base_pair Starts at 42696595 and ends at 42722620 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
DDX39B (6p21.33) / PRPH2 (6p21.1)PRPH2 (6p21.1) / PRPH2 (6p21.1)DDX39B 6p21.33 / PRPH2 6p21.1

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;6)(p21;p21) DDX39B/PRPH2

External links

Nomenclature
HGNC (Hugo)PRPH2   9942
Cards
Entrez_Gene (NCBI)PRPH2  5961  peripherin 2
AliasesAOFMD; AVMD; CACD2; DS; 
MDBS1; PRPH; RDS; RP7; TSPAN22; rd2
GeneCards (Weizmann)PRPH2
Ensembl hg19 (Hinxton)ENSG00000112619 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112619 [Gene_View]  chr6:42696595-42722620 [Contig_View]  PRPH2 [Vega]
ICGC DataPortalENSG00000112619
TCGA cBioPortalPRPH2
AceView (NCBI)PRPH2
Genatlas (Paris)PRPH2
WikiGenes5961
SOURCE (Princeton)PRPH2
Genetics Home Reference (NIH)PRPH2
Genomic and cartography
GoldenPath hg38 (UCSC)PRPH2  -     chr6:42696595-42722620 -  6p21.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PRPH2  -     6p21.1   [Description]    (hg19-Feb_2009)
EnsemblPRPH2 - 6p21.1 [CytoView hg19]  PRPH2 - 6p21.1 [CytoView hg38]
Mapping of homologs : NCBIPRPH2 [Mapview hg19]  PRPH2 [Mapview hg38]
OMIM136880   169150   179605   608133   608161   613105   
Gene and transcription
Genbank (Entrez)BC074720 DQ426889 DQ579716 M62958 M73531
RefSeq transcript (Entrez)NM_000322
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PRPH2
Cluster EST : UnigeneHs.654489 [ NCBI ]
CGAP (NCI)Hs.654489
Alternative Splicing GalleryENSG00000112619
Gene ExpressionPRPH2 [ NCBI-GEO ]   PRPH2 [ EBI - ARRAY_EXPRESS ]   PRPH2 [ SEEK ]   PRPH2 [ MEM ]
Gene Expression Viewer (FireBrowse)PRPH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5961
GTEX Portal (Tissue expression)PRPH2
Human Protein AtlasENSG00000112619-PRPH2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23942   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP23942  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP23942
Splice isoforms : SwissVarP23942
PhosPhoSitePlusP23942
Domaine pattern : Prosite (Expaxy)RDS_ROM1 (PS00930)   
Domains : Interpro (EBI)Peripherin/rom-1    Peripherin/rom-1_CS    Tetraspanin/Peripherin    Tetraspanin_EC2   
Domain families : Pfam (Sanger)Tetraspannin (PF00335)   
Domain families : Pfam (NCBI)pfam00335   
Conserved Domain (NCBI)PRPH2
DMDM Disease mutations5961
Blocks (Seattle)PRPH2
SuperfamilyP23942
Human Protein Atlas [tissue]ENSG00000112619-PRPH2 [tissue]
Peptide AtlasP23942
HPRD01553
IPIIPI00013928   IPI00815694   
Protein Interaction databases
DIP (DOE-UCLA)P23942
IntAct (EBI)P23942
FunCoupENSG00000112619
BioGRIDPRPH2
STRING (EMBL)PRPH2
ZODIACPRPH2
Ontologies - Pathways
QuickGOP23942
Ontology : AmiGOphotoreceptor outer segment  integral component of plasma membrane  cell adhesion  cell surface receptor signaling pathway  visual perception  integral component of membrane  retina development in camera-type eye  
Ontology : EGO-EBIphotoreceptor outer segment  integral component of plasma membrane  cell adhesion  cell surface receptor signaling pathway  visual perception  integral component of membrane  retina development in camera-type eye  
NDEx NetworkPRPH2
Atlas of Cancer Signalling NetworkPRPH2
Wikipedia pathwaysPRPH2
Orthology - Evolution
OrthoDB5961
GeneTree (enSembl)ENSG00000112619
Phylogenetic Trees/Animal Genes : TreeFamPRPH2
HOVERGENP23942
HOGENOMP23942
Homologs : HomoloGenePRPH2
Homology/Alignments : Family Browser (UCSC)PRPH2
Gene fusions - Rearrangements
Fusion : MitelmanDDX39B/PRPH2 [6p21.33/6p21.1]  [t(6;6)(p21;p21)]  
Fusion: TCGA_MDACCDDX39B 6p21.33 PRPH2 6p21.1 BRCA
Fusion PortalDDX39B 6p21.33 PRPH2 6p21.1 BRCA
Fusion : QuiverPRPH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPRPH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPH2
dbVarPRPH2
ClinVarPRPH2
1000_GenomesPRPH2 
Exome Variant ServerPRPH2
ExAC (Exome Aggregation Consortium)ENSG00000112619
GNOMAD BrowserENSG00000112619
Genetic variants : HAPMAP5961
Genomic Variants (DGV)PRPH2 [DGVbeta]
DECIPHERPRPH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPRPH2 
Mutations
ICGC Data PortalPRPH2 
TCGA Data PortalPRPH2 
Broad Tumor PortalPRPH2
OASIS PortalPRPH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPRPH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPRPH2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch PRPH2
DgiDB (Drug Gene Interaction Database)PRPH2
DoCM (Curated mutations)PRPH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PRPH2 (select a term)
intoGenPRPH2
Cancer3DPRPH2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM136880    169150    179605    608133    608161    613105   
Orphanet158    659    1843    19056    11076    10695    14018    14017    14020   
DisGeNETPRPH2
MedgenPRPH2
Genetic Testing Registry PRPH2
NextProtP23942 [Medical]
TSGene5961
GENETestsPRPH2
Target ValidationPRPH2
Huge Navigator PRPH2 [HugePedia]
snp3D : Map Gene to Disease5961
BioCentury BCIQPRPH2
ClinGenPRPH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5961
Chemical/Pharm GKB GenePA34310
Clinical trialPRPH2
Miscellaneous
canSAR (ICR)PRPH2 (select the gene name)
Probes
Litterature
PubMed87 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePRPH2
EVEXPRPH2
GoPubMedPRPH2
iHOPPRPH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Feb 28 13:32:39 CET 2018
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