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RP2 (retinitis pigmentosa 2 (X-linked recessive))

Identity

Alias_symbol (synonym)TBCCD2
NME10
NM23-H10
Other aliasDELXp11.3
XRP2
HGNC (Hugo) RP2
LocusID (NCBI) 6102
Atlas_Id 72771
Location Xp11.23  [Link to chromosome band Xp11]
Location_base_pair Starts at 46696347 and ends at 46741791 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
RP2 (Xp11.23) / C1orf43 (1q21.3)

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)RP2   10274
Cards
Entrez_Gene (NCBI)RP2  6102  retinitis pigmentosa 2 (X-linked recessive)
AliasesDELXp11.3; NM23-H10; NME10; TBCCD2; 
XRP2
GeneCards (Weizmann)RP2
Ensembl hg19 (Hinxton)ENSG00000102218 [Gene_View]  chrX:46696347-46741791 [Contig_View]  RP2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000102218 [Gene_View]  chrX:46696347-46741791 [Contig_View]  RP2 [Vega]
ICGC DataPortalENSG00000102218
TCGA cBioPortalRP2
AceView (NCBI)RP2
Genatlas (Paris)RP2
WikiGenes6102
SOURCE (Princeton)RP2
Genetics Home Reference (NIH)RP2
Genomic and cartography
GoldenPath hg19 (UCSC)RP2  -     chrX:46696347-46741791 +  Xp11.23   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)RP2  -     Xp11.23   [Description]    (hg38-Dec_2013)
EnsemblRP2 - Xp11.23 [CytoView hg19]  RP2 - Xp11.23 [CytoView hg38]
Mapping of homologs : NCBIRP2 [Mapview hg19]  RP2 [Mapview hg38]
OMIM300757   312600   
Gene and transcription
Genbank (Entrez)AJ007590 AK312555 AL049366 BC027851 BC043348
RefSeq transcript (Entrez)NM_006915
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_009107 NT_079573 NW_004929439
Consensus coding sequences : CCDS (NCBI)RP2
Cluster EST : UnigeneHs.44766 [ NCBI ]
CGAP (NCI)Hs.44766
Alternative Splicing GalleryENSG00000102218
Gene ExpressionRP2 [ NCBI-GEO ]   RP2 [ EBI - ARRAY_EXPRESS ]   RP2 [ SEEK ]   RP2 [ MEM ]
Gene Expression Viewer (FireBrowse)RP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6102
GTEX Portal (Tissue expression)RP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75695   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75695  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75695
Splice isoforms : SwissVarO75695
PhosPhoSitePlusO75695
Domaine pattern : Prosite (Expaxy)C_CAP_COFACTOR_C (PS51329)   
Domains : Interpro (EBI)Adenylate_cyclase-assoc_CAP_C    C-CAP_CF_C-like    CAP/MinC_C    CARP_motif    Nucleoside_diP_kinase    Protein_XRP2    Tubulin-bd_cofactor_C_dom   
Domain families : Pfam (Sanger)TBCC (PF07986)   
Domain families : Pfam (NCBI)pfam07986   
Domain families : Smart (EMBL)CARP (SM00673)  
Conserved Domain (NCBI)RP2
DMDM Disease mutations6102
Blocks (Seattle)RP2
PDB (SRS)2BX6    3BH6    3BH7   
PDB (PDBSum)2BX6    3BH6    3BH7   
PDB (IMB)2BX6    3BH6    3BH7   
PDB (RSDB)2BX6    3BH6    3BH7   
Structural Biology KnowledgeBase2BX6    3BH6    3BH7   
SCOP (Structural Classification of Proteins)2BX6    3BH6    3BH7   
CATH (Classification of proteins structures)2BX6    3BH6    3BH7   
SuperfamilyO75695
Human Protein AtlasENSG00000102218
Peptide AtlasO75695
HPRD02424
IPIIPI00026627   
Protein Interaction databases
DIP (DOE-UCLA)O75695
IntAct (EBI)O75695
FunCoupENSG00000102218
BioGRIDRP2
STRING (EMBL)RP2
ZODIACRP2
Ontologies - Pathways
QuickGOO75695
Ontology : AmiGOcell morphogenesis  actin binding  nucleoside diphosphate kinase activity  GTPase activator activity  protein binding  ATP binding  GTP binding  cytoplasm  Golgi apparatus  centriole  plasma membrane  nucleoside diphosphate phosphorylation  GTP biosynthetic process  UTP biosynthetic process  CTP biosynthetic process  protein folding  post-Golgi vesicle-mediated transport  post-Golgi vesicle-mediated transport  organelle organization  cytoskeleton organization  post-chaperonin tubulin folding pathway  visual perception  protein transport  cytoplasmic vesicle  ciliary basal body  positive regulation of GTPase activity  positive regulation of GTPase activity  unfolded protein binding  extracellular exosome  primary cilium  periciliary membrane compartment  
Ontology : EGO-EBIcell morphogenesis  actin binding  nucleoside diphosphate kinase activity  GTPase activator activity  protein binding  ATP binding  GTP binding  cytoplasm  Golgi apparatus  centriole  plasma membrane  nucleoside diphosphate phosphorylation  GTP biosynthetic process  UTP biosynthetic process  CTP biosynthetic process  protein folding  post-Golgi vesicle-mediated transport  post-Golgi vesicle-mediated transport  organelle organization  cytoskeleton organization  post-chaperonin tubulin folding pathway  visual perception  protein transport  cytoplasmic vesicle  ciliary basal body  positive regulation of GTPase activity  positive regulation of GTPase activity  unfolded protein binding  extracellular exosome  primary cilium  periciliary membrane compartment  
NDEx NetworkRP2
Atlas of Cancer Signalling NetworkRP2
Wikipedia pathwaysRP2
Orthology - Evolution
OrthoDB6102
GeneTree (enSembl)ENSG00000102218
Phylogenetic Trees/Animal Genes : TreeFamRP2
HOVERGENO75695
HOGENOMO75695
Homologs : HomoloGeneRP2
Homology/Alignments : Family Browser (UCSC)RP2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RP2
dbVarRP2
ClinVarRP2
1000_GenomesRP2 
Exome Variant ServerRP2
ExAC (Exome Aggregation Consortium)RP2 (select the gene name)
Genetic variants : HAPMAP6102
Genomic Variants (DGV)RP2 [DGVbeta]
DECIPHER (Syndromes)X:46696347-46741791  ENSG00000102218
CONAN: Copy Number AnalysisRP2 
Mutations
ICGC Data PortalRP2 
TCGA Data PortalRP2 
Broad Tumor PortalRP2
OASIS PortalRP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch RP2
DgiDB (Drug Gene Interaction Database)RP2
DoCM (Curated mutations)RP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RP2 (select a term)
intoGenRP2
Cancer3DRP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300757    312600   
Orphanet659   
MedgenRP2
Genetic Testing Registry RP2
NextProtO75695 [Medical]
TSGene6102
GENETestsRP2
Huge Navigator RP2 [HugePedia]
snp3D : Map Gene to Disease6102
BioCentury BCIQRP2
ClinGenRP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6102
Chemical/Pharm GKB GenePA34641
Clinical trialRP2
Miscellaneous
canSAR (ICR)RP2 (select the gene name)
Probes
Litterature
PubMed56 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRP2
EVEXRP2
GoPubMedRP2
iHOPRP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:41:33 CET 2017

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