Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PTBP2 (polypyrimidine tract binding protein 2)

Identity

Alias_symbol (synonym)brPTB
nPTB
PTB
PTBLP
Other alias
HGNC (Hugo) PTBP2
LocusID (NCBI) 58155
Atlas_Id 53551
Location 1p21.3  [Link to chromosome band 1p21]
Location_base_pair Starts at 96721605 and ends at 96815049 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
HDHD3 (9q32) / PTBP2 (1p21.3)MRPL19 (2p12) / PTBP2 (1p21.3)PTBP2 (1p21.3) / AUTS2 (7q11.22)
PTBP2 (1p21.3) / KAZN (1p36.21)PTBP2 (1p21.3) / ZNF609 (15q22.31)U2AF1 (21q22.3) / PTBP2 (1p21.3)
PTBP2 1p21.3 / KAZN 1p36.21

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)PTBP2   17662
Cards
Entrez_Gene (NCBI)PTBP2  58155  polypyrimidine tract binding protein 2
AliasesPTBLP; brPTB; nPTB
GeneCards (Weizmann)PTBP2
Ensembl hg19 (Hinxton)ENSG00000117569 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117569 [Gene_View]  chr1:96721605-96815049 [Contig_View]  PTBP2 [Vega]
ICGC DataPortalENSG00000117569
TCGA cBioPortalPTBP2
AceView (NCBI)PTBP2
Genatlas (Paris)PTBP2
WikiGenes58155
SOURCE (Princeton)PTBP2
Genetics Home Reference (NIH)PTBP2
Genomic and cartography
GoldenPath hg38 (UCSC)PTBP2  -     chr1:96721605-96815049 +  1p21.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTBP2  -     1p21.3   [Description]    (hg19-Feb_2009)
EnsemblPTBP2 - 1p21.3 [CytoView hg19]  PTBP2 - 1p21.3 [CytoView hg38]
Mapping of homologs : NCBIPTBP2 [Mapview hg19]  PTBP2 [Mapview hg38]
OMIM608449   
Gene and transcription
Genbank (Entrez)AB051232 AB051233 AB209266 AF176085 AF530580
RefSeq transcript (Entrez)NM_001300985 NM_001300986 NM_001300987 NM_001300988 NM_001300989 NM_001300990 NM_021190
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PTBP2
Cluster EST : UnigeneHs.743449 [ NCBI ]
CGAP (NCI)Hs.743449
Alternative Splicing GalleryENSG00000117569
Gene ExpressionPTBP2 [ NCBI-GEO ]   PTBP2 [ EBI - ARRAY_EXPRESS ]   PTBP2 [ SEEK ]   PTBP2 [ MEM ]
Gene Expression Viewer (FireBrowse)PTBP2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)58155
GTEX Portal (Tissue expression)PTBP2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UKA9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UKA9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UKA9
Splice isoforms : SwissVarQ9UKA9
PhosPhoSitePlusQ9UKA9
Domaine pattern : Prosite (Expaxy)RRM (PS50102)   
Domains : Interpro (EBI)HnRNP-L/PTB    Nucleotide-bd_a/b_plait    RRM_dom   
Domain families : Pfam (Sanger)RRM_1 (PF00076)   
Domain families : Pfam (NCBI)pfam00076   
Domain families : Smart (EMBL)RRM (SM00360)  
Conserved Domain (NCBI)PTBP2
DMDM Disease mutations58155
Blocks (Seattle)PTBP2
PDB (SRS)2CQ1    2MJU    4CQ1   
PDB (PDBSum)2CQ1    2MJU    4CQ1   
PDB (IMB)2CQ1    2MJU    4CQ1   
PDB (RSDB)2CQ1    2MJU    4CQ1   
Structural Biology KnowledgeBase2CQ1    2MJU    4CQ1   
SCOP (Structural Classification of Proteins)2CQ1    2MJU    4CQ1   
CATH (Classification of proteins structures)2CQ1    2MJU    4CQ1   
SuperfamilyQ9UKA9
Human Protein AtlasENSG00000117569
Peptide AtlasQ9UKA9
HPRD12233
IPIIPI00514064   IPI00647067   IPI00641664   IPI00748295   IPI00743676   IPI01013351   IPI00254162   IPI00556141   
Protein Interaction databases
DIP (DOE-UCLA)Q9UKA9
IntAct (EBI)Q9UKA9
FunCoupENSG00000117569
BioGRIDPTBP2
STRING (EMBL)PTBP2
ZODIACPTBP2
Ontologies - Pathways
QuickGOQ9UKA9
Ontology : AmiGORNA binding  mRNA binding  spliceosomal complex  mRNA splice site selection  spinal cord development  cerebellum development  growth cone  negative regulation of RNA splicing  pre-mRNA binding  neuronal cell body  regulation of neural precursor cell proliferation  
Ontology : EGO-EBIRNA binding  mRNA binding  spliceosomal complex  mRNA splice site selection  spinal cord development  cerebellum development  growth cone  negative regulation of RNA splicing  pre-mRNA binding  neuronal cell body  regulation of neural precursor cell proliferation  
NDEx NetworkPTBP2
Atlas of Cancer Signalling NetworkPTBP2
Wikipedia pathwaysPTBP2
Orthology - Evolution
OrthoDB58155
GeneTree (enSembl)ENSG00000117569
Phylogenetic Trees/Animal Genes : TreeFamPTBP2
HOVERGENQ9UKA9
HOGENOMQ9UKA9
Homologs : HomoloGenePTBP2
Homology/Alignments : Family Browser (UCSC)PTBP2
Gene fusions - Rearrangements
Fusion : MitelmanPTBP2/KAZN [1p21.3/1p36.21]  
Fusion: TCGAPTBP2 1p21.3 KAZN 1p36.21 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTBP2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTBP2
dbVarPTBP2
ClinVarPTBP2
1000_GenomesPTBP2 
Exome Variant ServerPTBP2
ExAC (Exome Aggregation Consortium)PTBP2 (select the gene name)
Genetic variants : HAPMAP58155
Genomic Variants (DGV)PTBP2 [DGVbeta]
DECIPHERPTBP2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTBP2 
Mutations
ICGC Data PortalPTBP2 
TCGA Data PortalPTBP2 
Broad Tumor PortalPTBP2
OASIS PortalPTBP2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTBP2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTBP2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PTBP2
DgiDB (Drug Gene Interaction Database)PTBP2
DoCM (Curated mutations)PTBP2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTBP2 (select a term)
intoGenPTBP2
Cancer3DPTBP2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608449   
Orphanet
MedgenPTBP2
Genetic Testing Registry PTBP2
NextProtQ9UKA9 [Medical]
TSGene58155
GENETestsPTBP2
Target ValidationPTBP2
Huge Navigator PTBP2 [HugePedia]
snp3D : Map Gene to Disease58155
BioCentury BCIQPTBP2
ClinGenPTBP2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD58155
Chemical/Pharm GKB GenePA33935
Clinical trialPTBP2
Miscellaneous
canSAR (ICR)PTBP2 (select the gene name)
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTBP2
EVEXPTBP2
GoPubMedPTBP2
iHOPPTBP2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:51:38 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.