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

PTPN12 (protein tyrosine phosphatase, non-receptor type 12)

Identity

Alias_symbol (synonym)PTPG1
PTP-PEST
Other alias
HGNC (Hugo) PTPN12
LocusID (NCBI) 5782
Atlas_Id 41911
Location 7q11.23  [Link to chromosome band 7q11]
Location_base_pair Starts at 77538035 and ends at 77640071 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
FBLN1 (22q13.31) / PTPN12 (7q11.23)PFN2 (3q25.1) / PTPN12 (7q11.23)PTPN12 (7q11.23) / AC007000.1 ()
PTPN12 (7q11.23) / ATXN1 (6p22.3)PTPN12 (7q11.23) / CKAP5 (11p11.2)PTPN12 (7q11.23) / DYNC1I1 (7q21.3)
PTPN12 (7q11.23) / HSP90AA1 (14q32.31)PTPN12 (7q11.23) / PTPN12 (7q11.23)PTPN12 7q11.23 AC007000.1
PTPN12 7q11.23 / DYNC1I1 7q21.3

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  i(7)(q10)


External links

Nomenclature
HGNC (Hugo)PTPN12   9645
Cards
Entrez_Gene (NCBI)PTPN12  5782  protein tyrosine phosphatase, non-receptor type 12
AliasesPTP-PEST; PTPG1
GeneCards (Weizmann)PTPN12
Ensembl hg19 (Hinxton)ENSG00000127947 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000127947 [Gene_View]  chr7:77538035-77640071 [Contig_View]  PTPN12 [Vega]
ICGC DataPortalENSG00000127947
TCGA cBioPortalPTPN12
AceView (NCBI)PTPN12
Genatlas (Paris)PTPN12
WikiGenes5782
SOURCE (Princeton)PTPN12
Genetics Home Reference (NIH)PTPN12
Genomic and cartography
GoldenPath hg38 (UCSC)PTPN12  -     chr7:77538035-77640071 +  7q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PTPN12  -     7q11.23   [Description]    (hg19-Feb_2009)
EnsemblPTPN12 - 7q11.23 [CytoView hg19]  PTPN12 - 7q11.23 [CytoView hg38]
Mapping of homologs : NCBIPTPN12 [Mapview hg19]  PTPN12 [Mapview hg38]
OMIM600079   
Gene and transcription
Genbank (Entrez)AB209524 AK289573 AK296764 AK303602 AK314236
RefSeq transcript (Entrez)NM_001131008 NM_001131009 NM_002835
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PTPN12
Cluster EST : UnigeneHs.61812 [ NCBI ]
CGAP (NCI)Hs.61812
Alternative Splicing GalleryENSG00000127947
Gene ExpressionPTPN12 [ NCBI-GEO ]   PTPN12 [ EBI - ARRAY_EXPRESS ]   PTPN12 [ SEEK ]   PTPN12 [ MEM ]
Gene Expression Viewer (FireBrowse)PTPN12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5782
GTEX Portal (Tissue expression)PTPN12
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ05209   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ05209  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ05209
Splice isoforms : SwissVarQ05209
PhosPhoSitePlusQ05209
Domaine pattern : Prosite (Expaxy)TYR_PHOSPHATASE_1 (PS00383)    TYR_PHOSPHATASE_2 (PS50056)    TYR_PHOSPHATASE_PTP (PS50055)   
Domains : Interpro (EBI)Prot-tyrosine_phosphatase-like    PTPase_domain    Ptpn_12    Tyr_Pase_AS    Tyr_Pase_cat    TYR_PHOSPHATASE_dom   
Domain families : Pfam (Sanger)Y_phosphatase (PF00102)   
Domain families : Pfam (NCBI)pfam00102   
Domain families : Smart (EMBL)PTPc (SM00194)  PTPc_motif (SM00404)  
Conserved Domain (NCBI)PTPN12
DMDM Disease mutations5782
Blocks (Seattle)PTPN12
PDB (SRS)5HDE    5J8R   
PDB (PDBSum)5HDE    5J8R   
PDB (IMB)5HDE    5J8R   
PDB (RSDB)5HDE    5J8R   
Structural Biology KnowledgeBase5HDE    5J8R   
SCOP (Structural Classification of Proteins)5HDE    5J8R   
CATH (Classification of proteins structures)5HDE    5J8R   
SuperfamilyQ05209
Human Protein AtlasENSG00000127947
Peptide AtlasQ05209
HPRD02513
IPIIPI00289082   IPI00925973   IPI00816374   IPI00816298   IPI00973179   IPI00908446   IPI00926813   IPI00926563   IPI00926188   IPI00985478   IPI00981014   IPI00911100   
Protein Interaction databases
DIP (DOE-UCLA)Q05209
IntAct (EBI)Q05209
FunCoupENSG00000127947
BioGRIDPTPN12
STRING (EMBL)PTPN12
ZODIACPTPN12
Ontologies - Pathways
QuickGOQ05209
Ontology : AmiGOpodosome  phosphoprotein phosphatase activity  protein tyrosine phosphatase activity  non-membrane spanning protein tyrosine phosphatase activity  protein binding  cytoplasm  cytosol  focal adhesion  protein dephosphorylation  SH3 domain binding  peptidyl-tyrosine dephosphorylation  ERBB2 signaling pathway  regulation of epidermal growth factor receptor signaling pathway  tissue regeneration  cell projection  cellular response to epidermal growth factor stimulus  negative regulation of ERBB signaling pathway  negative regulation of platelet-derived growth factor receptor-beta signaling pathway  
Ontology : EGO-EBIpodosome  phosphoprotein phosphatase activity  protein tyrosine phosphatase activity  non-membrane spanning protein tyrosine phosphatase activity  protein binding  cytoplasm  cytosol  focal adhesion  protein dephosphorylation  SH3 domain binding  peptidyl-tyrosine dephosphorylation  ERBB2 signaling pathway  regulation of epidermal growth factor receptor signaling pathway  tissue regeneration  cell projection  cellular response to epidermal growth factor stimulus  negative regulation of ERBB signaling pathway  negative regulation of platelet-derived growth factor receptor-beta signaling pathway  
NDEx NetworkPTPN12
Atlas of Cancer Signalling NetworkPTPN12
Wikipedia pathwaysPTPN12
Orthology - Evolution
OrthoDB5782
GeneTree (enSembl)ENSG00000127947
Phylogenetic Trees/Animal Genes : TreeFamPTPN12
HOVERGENQ05209
HOGENOMQ05209
Homologs : HomoloGenePTPN12
Homology/Alignments : Family Browser (UCSC)PTPN12
Gene fusions - Rearrangements
Fusion : MitelmanPTPN12/DYNC1I1 [7q11.23/7q21.3]  
Fusion : MitelmanPTPN12/HSP90AA1 [7q11.23/14q32.31]  [t(7;14)(q11;q32)]  
Fusion: TCGAPTPN12 7q11.23 AC007000.1 BRCA SKCM
Fusion: TCGAPTPN12 7q11.23 DYNC1I1 7q21.3 LGG
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPTPN12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PTPN12
dbVarPTPN12
ClinVarPTPN12
1000_GenomesPTPN12 
Exome Variant ServerPTPN12
ExAC (Exome Aggregation Consortium)PTPN12 (select the gene name)
Genetic variants : HAPMAP5782
Genomic Variants (DGV)PTPN12 [DGVbeta]
DECIPHERPTPN12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPTPN12 
Mutations
ICGC Data PortalPTPN12 
TCGA Data PortalPTPN12 
Broad Tumor PortalPTPN12
OASIS PortalPTPN12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPTPN12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPTPN12
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 PTPN12
DgiDB (Drug Gene Interaction Database)PTPN12
DoCM (Curated mutations)PTPN12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PTPN12 (select a term)
intoGenPTPN12
Cancer3DPTPN12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600079   
Orphanet
MedgenPTPN12
Genetic Testing Registry PTPN12
NextProtQ05209 [Medical]
TSGene5782
GENETestsPTPN12
Huge Navigator PTPN12 [HugePedia]
snp3D : Map Gene to Disease5782
BioCentury BCIQPTPN12
ClinGenPTPN12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5782
Chemical/Pharm GKB GenePA33987
Clinical trialPTPN12
Miscellaneous
canSAR (ICR)PTPN12 (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePTPN12
EVEXPTPN12
GoPubMedPTPN12
iHOPPTPN12
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 : Fri May 19 12:33:28 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.