Atlas of Genetics and Cytogenetics in Oncology and Haematology


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RTN2 (reticulon 2)

Identity

Alias_namesSPG12
spastic paraplegia 12 (autosomal dominant)
Alias_symbol (synonym)NSP2
NSPL1
Other aliasNSPLI
HGNC (Hugo) RTN2
LocusID (NCBI) 6253
Atlas_Id 51254
Location 19q13.32  [Link to chromosome band 19q13]
Location_base_pair Starts at 45485288 and ends at 45497055 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
RTN2 (19q13.32) / SPTBN1 (2p16.2)

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)RTN2   10468
Cards
Entrez_Gene (NCBI)RTN2  6253  reticulon 2
AliasesNSP2; NSPL1; NSPLI; SPG12
GeneCards (Weizmann)RTN2
Ensembl hg19 (Hinxton)ENSG00000125744 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125744 [Gene_View]  chr19:45485288-45497055 [Contig_View]  RTN2 [Vega]
ICGC DataPortalENSG00000125744
TCGA cBioPortalRTN2
AceView (NCBI)RTN2
Genatlas (Paris)RTN2
WikiGenes6253
SOURCE (Princeton)RTN2
Genetics Home Reference (NIH)RTN2
Genomic and cartography
GoldenPath hg38 (UCSC)RTN2  -     chr19:45485288-45497055 -  19q13.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)RTN2  -     19q13.32   [Description]    (hg19-Feb_2009)
EnsemblRTN2 - 19q13.32 [CytoView hg19]  RTN2 - 19q13.32 [CytoView hg38]
Mapping of homologs : NCBIRTN2 [Mapview hg19]  RTN2 [Mapview hg38]
OMIM603183   604805   
Gene and transcription
Genbank (Entrez)AA845604 AF004222 AF004223 AF004224 AF038540
RefSeq transcript (Entrez)NM_005619 NM_206900 NM_206901 NM_206902
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)RTN2
Cluster EST : UnigeneHs.47517 [ NCBI ]
CGAP (NCI)Hs.47517
Alternative Splicing GalleryENSG00000125744
Gene ExpressionRTN2 [ NCBI-GEO ]   RTN2 [ EBI - ARRAY_EXPRESS ]   RTN2 [ SEEK ]   RTN2 [ MEM ]
Gene Expression Viewer (FireBrowse)RTN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)6253
GTEX Portal (Tissue expression)RTN2
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75298   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75298  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75298
Splice isoforms : SwissVarO75298
PhosPhoSitePlusO75298
Domaine pattern : Prosite (Expaxy)RETICULON (PS50845)   
Domains : Interpro (EBI)Reticulon   
Domain families : Pfam (Sanger)Reticulon (PF02453)   
Domain families : Pfam (NCBI)pfam02453   
Conserved Domain (NCBI)RTN2
DMDM Disease mutations6253
Blocks (Seattle)RTN2
SuperfamilyO75298
Human Protein AtlasENSG00000125744
Peptide AtlasO75298
HPRD04421
IPIIPI00024983   IPI00216112   IPI00410134   IPI00394894   
Protein Interaction databases
DIP (DOE-UCLA)O75298
IntAct (EBI)O75298
FunCoupENSG00000125744
BioGRIDRTN2
STRING (EMBL)RTN2
ZODIACRTN2
Ontologies - Pathways
QuickGOO75298
Ontology : AmiGOprotein binding  endoplasmic reticulum  terminal cisterna  integral component of endoplasmic reticulum membrane  T-tubule  regulation of glucose import  intracellular protein transmembrane transport  
Ontology : EGO-EBIprotein binding  endoplasmic reticulum  terminal cisterna  integral component of endoplasmic reticulum membrane  T-tubule  regulation of glucose import  intracellular protein transmembrane transport  
NDEx NetworkRTN2
Atlas of Cancer Signalling NetworkRTN2
Wikipedia pathwaysRTN2
Orthology - Evolution
OrthoDB6253
GeneTree (enSembl)ENSG00000125744
Phylogenetic Trees/Animal Genes : TreeFamRTN2
HOVERGENO75298
HOGENOMO75298
Homologs : HomoloGeneRTN2
Homology/Alignments : Family Browser (UCSC)RTN2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerRTN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)RTN2
dbVarRTN2
ClinVarRTN2
1000_GenomesRTN2 
Exome Variant ServerRTN2
ExAC (Exome Aggregation Consortium)RTN2 (select the gene name)
Genetic variants : HAPMAP6253
Genomic Variants (DGV)RTN2 [DGVbeta]
DECIPHERRTN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisRTN2 
Mutations
ICGC Data PortalRTN2 
TCGA Data PortalRTN2 
Broad Tumor PortalRTN2
OASIS PortalRTN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICRTN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDRTN2
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
BioMutasearch RTN2
DgiDB (Drug Gene Interaction Database)RTN2
DoCM (Curated mutations)RTN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)RTN2 (select a term)
intoGenRTN2
Cancer3DRTN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603183    604805   
Orphanet14704   
MedgenRTN2
Genetic Testing Registry RTN2
NextProtO75298 [Medical]
TSGene6253
GENETestsRTN2
Target ValidationRTN2
Huge Navigator RTN2 [HugePedia]
snp3D : Map Gene to Disease6253
BioCentury BCIQRTN2
ClinGenRTN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD6253
Chemical/Pharm GKB GenePA34881
Clinical trialRTN2
Miscellaneous
canSAR (ICR)RTN2 (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineRTN2
EVEXRTN2
GoPubMedRTN2
iHOPRTN2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 17:13:34 CEST 2017

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