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PRPH2 (peripherin 2 (retinal degeneration, slow))

Identity

Other namesAOFMD
AVMD
CACD2
DS
PRPH
RDS
RP7
TSPAN22
rd2
HGNC (Hugo) PRPH2
LocusID (NCBI) 5961
Location 6p21.1
Location_base_pair Starts at 42664333 and ends at 42690358 bp from pter ( according to hg19-Feb_2009)
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

 

External links

Nomenclature
HGNC (Hugo)PRPH2   9942
Cards
Entrez_Gene (NCBI)PRPH2  5961  peripherin 2 (retinal degeneration, slow)
GeneCards (Weizmann)PRPH2
Ensembl hg19 (Hinxton)ENSG00000112619 [Gene_View]  chr6:42664333-42690358 [Contig_View]  PRPH2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000112619 [Gene_View]  chr6:42664333-42690358 [Contig_View]  PRPH2 [Vega]
ICGC DataPortalENSG00000112619
cBioPortalPRPH2
AceView (NCBI)PRPH2
Genatlas (Paris)PRPH2
WikiGenes5961
SOURCE (Princeton)PRPH2
Genomic and cartography
GoldenPath hg19 (UCSC)PRPH2  -     chr6:42664333-42690358 -  6p21.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PRPH2  -     6p21.1   [Description]    (hg38-Dec_2013)
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 M62958 M73531
RefSeq transcript (Entrez)NM_000322
RefSeq genomic (Entrez)AC_000138 NC_000006 NC_018917 NG_009176 NT_007592 NW_001838981 NW_004929326
Consensus coding sequences : CCDS (NCBI)PRPH2
Cluster EST : UnigeneHs.654489 [ NCBI ]
CGAP (NCI)Hs.654489
Alternative Splicing : Fast-db (Paris)GSHG0026618
Alternative Splicing GalleryENSG00000112619
Gene ExpressionPRPH2 [ NCBI-GEO ]     PRPH2 [ SEEK ]   PRPH2 [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP23942 (Uniprot)
NextProtP23942  [Medical]
With graphics : InterProP23942
Splice isoforms : SwissVarP23942 (Swissvar)
Domaine pattern : Prosite (Expaxy)RDS_ROM1 (PS00930)   
Domains : Interpro (EBI)Peripherin/rom-1    Peripherin/rom-1_CS    Tetraspanin/Peripherin    Tetraspanin_EC2   
Related proteins : CluSTrP23942
Domain families : Pfam (Sanger)Tetraspannin (PF00335)   
Domain families : Pfam (NCBI)pfam00335   
DMDM Disease mutations5961
Blocks (Seattle)P23942
Human Protein AtlasENSG00000112619
Peptide AtlasP23942
HPRD01553
IPIIPI00013928   IPI00815694   
Protein Interaction databases
DIP (DOE-UCLA)P23942
IntAct (EBI)P23942
FunCoupENSG00000112619
BioGRIDPRPH2
IntegromeDBPRPH2
STRING (EMBL)PRPH2
Ontologies - Pathways
QuickGOP23942
Ontology : AmiGOcell adhesion  visual perception  integral component of membrane  retina development in camera-type eye  
Ontology : EGO-EBIcell adhesion  visual perception  integral component of membrane  retina development in camera-type eye  
Protein Interaction DatabasePRPH2
DoCM (Curated mutations)PRPH2
Wikipedia pathwaysPRPH2
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerPRPH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PRPH2
dbVarPRPH2
ClinVarPRPH2
1000_GenomesPRPH2 
Exome Variant ServerPRPH2
SNP (GeneSNP Utah)PRPH2
SNP : HGBasePRPH2
Genetic variants : HAPMAPPRPH2
Genomic VariantsPRPH2  PRPH2 [DGVbeta]
Mutations
ICGC Data PortalENSG00000112619 
Somatic Mutations in Cancer : COSMICPRPH2 
CONAN: Copy Number AnalysisPRPH2 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)6:42664333-42690358
Mutations and Diseases : HGMDPRPH2
OMIM136880    169150    179605    608133    608161    613105   
MedgenPRPH2
NextProtP23942 [Medical]
GENETestsPRPH2
Disease Genetic AssociationPRPH2
Huge Navigator PRPH2 [HugePedia]  PRPH2 [HugeCancerGEM]
snp3D : Map Gene to Disease5961
DGIdb (Drug Gene Interaction db)PRPH2
General knowledge
Homologs : HomoloGenePRPH2
Homology/Alignments : Family Browser (UCSC)PRPH2
Phylogenetic Trees/Animal Genes : TreeFamPRPH2
Chemical/Protein Interactions : CTD5961
Chemical/Pharm GKB GenePA34310
Clinical trialPRPH2
Cancer Resource (Charite)ENSG00000112619
Other databases
Probes
Litterature
PubMed71 Pubmed reference(s) in Entrez
CoreMinePRPH2
GoPubMedPRPH2
iHOPPRPH2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sun Dec 21 00:59:29 CET 2014

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