Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   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

PITPNM2 (phosphatidylinositol transfer protein membrane associated 2)

Identity

Alias_namesphosphatidylinositol transfer protein
Alias_symbol (synonym)RDGBA2
RDGB2
NIR3
Other aliasNIR-3
HGNC (Hugo) PITPNM2
LocusID (NCBI) 57605
Atlas_Id 47269
Location 12q24.31  [Link to chromosome band 12q24]
Location_base_pair Starts at 123468027 and ends at 123595036 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
NEAT1 (11q13.1) / PITPNM2 (12q24.31)PITPNM2 (12q24.31) / KPNB1 (17q21.32)PITPNM2 (12q24.31) / MRPS5 (2q11.1)
PITPNM2 (12q24.31) / TGM2 (20q11.23)

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)PITPNM2   21044
Cards
Entrez_Gene (NCBI)PITPNM2  57605  phosphatidylinositol transfer protein membrane associated 2
AliasesNIR-3; NIR3; RDGB2; RDGBA2
GeneCards (Weizmann)PITPNM2
Ensembl hg19 (Hinxton)ENSG00000090975 [Gene_View]  chr12:123468027-123595036 [Contig_View]  PITPNM2 [Vega]
Ensembl hg38 (Hinxton)ENSG00000090975 [Gene_View]  chr12:123468027-123595036 [Contig_View]  PITPNM2 [Vega]
ICGC DataPortalENSG00000090975
TCGA cBioPortalPITPNM2
AceView (NCBI)PITPNM2
Genatlas (Paris)PITPNM2
WikiGenes57605
SOURCE (Princeton)PITPNM2
Genetics Home Reference (NIH)PITPNM2
Genomic and cartography
GoldenPath hg19 (UCSC)PITPNM2  -     chr12:123468027-123595036 -  12q24.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)PITPNM2  -     12q24.31   [Description]    (hg38-Dec_2013)
EnsemblPITPNM2 - 12q24.31 [CytoView hg19]  PITPNM2 - 12q24.31 [CytoView hg38]
Mapping of homologs : NCBIPITPNM2 [Mapview hg19]  PITPNM2 [Mapview hg38]
OMIM608920   
Gene and transcription
Genbank (Entrez)AB040890 AF334585 AK026156 AL133612 BC025360
RefSeq transcript (Entrez)NM_001300801 NM_020845
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929386
Consensus coding sequences : CCDS (NCBI)PITPNM2
Cluster EST : UnigeneHs.272759 [ NCBI ]
CGAP (NCI)Hs.272759
Alternative Splicing GalleryENSG00000090975
Gene ExpressionPITPNM2 [ NCBI-GEO ]   PITPNM2 [ EBI - ARRAY_EXPRESS ]   PITPNM2 [ SEEK ]   PITPNM2 [ MEM ]
Gene Expression Viewer (FireBrowse)PITPNM2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57605
GTEX Portal (Tissue expression)PITPNM2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BZ72   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BZ72  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BZ72
Splice isoforms : SwissVarQ9BZ72
PhosPhoSitePlusQ9BZ72
Domaine pattern : Prosite (Expaxy)DDHD (PS51043)   
Domains : Interpro (EBI)DDHD_dom    HAD-like_dom    LNS2/PITP    PI_transfer    START-like_dom   
Domain families : Pfam (Sanger)DDHD (PF02862)    IP_trans (PF02121)   
Domain families : Pfam (NCBI)pfam02862    pfam02121   
Domain families : Smart (EMBL)LNS2 (SM00775)  
Conserved Domain (NCBI)PITPNM2
DMDM Disease mutations57605
Blocks (Seattle)PITPNM2
SuperfamilyQ9BZ72
Human Protein AtlasENSG00000090975
Peptide AtlasQ9BZ72
HPRD08335
IPIIPI00097494   IPI00155134   IPI00747418   IPI00975597   IPI01009147   
Protein Interaction databases
DIP (DOE-UCLA)Q9BZ72
IntAct (EBI)Q9BZ72
FunCoupENSG00000090975
BioGRIDPITPNM2
STRING (EMBL)PITPNM2
ZODIACPITPNM2
Ontologies - Pathways
QuickGOQ9BZ72
Ontology : AmiGOcalcium ion binding  transport  metabolic process  lipid binding  endomembrane system  integral component of membrane  intracellular membrane-bounded organelle  
Ontology : EGO-EBIcalcium ion binding  transport  metabolic process  lipid binding  endomembrane system  integral component of membrane  intracellular membrane-bounded organelle  
NDEx NetworkPITPNM2
Atlas of Cancer Signalling NetworkPITPNM2
Wikipedia pathwaysPITPNM2
Orthology - Evolution
OrthoDB57605
GeneTree (enSembl)ENSG00000090975
Phylogenetic Trees/Animal Genes : TreeFamPITPNM2
HOVERGENQ9BZ72
HOGENOMQ9BZ72
Homologs : HomoloGenePITPNM2
Homology/Alignments : Family Browser (UCSC)PITPNM2
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPITPNM2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PITPNM2
dbVarPITPNM2
ClinVarPITPNM2
1000_GenomesPITPNM2 
Exome Variant ServerPITPNM2
ExAC (Exome Aggregation Consortium)PITPNM2 (select the gene name)
Genetic variants : HAPMAP57605
Genomic Variants (DGV)PITPNM2 [DGVbeta]
DECIPHER (Syndromes)12:123468027-123595036  ENSG00000090975
CONAN: Copy Number AnalysisPITPNM2 
Mutations
ICGC Data PortalPITPNM2 
TCGA Data PortalPITPNM2 
Broad Tumor PortalPITPNM2
OASIS PortalPITPNM2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPITPNM2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPITPNM2
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 PITPNM2
DgiDB (Drug Gene Interaction Database)PITPNM2
DoCM (Curated mutations)PITPNM2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PITPNM2 (select a term)
intoGenPITPNM2
Cancer3DPITPNM2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608920   
Orphanet
MedgenPITPNM2
Genetic Testing Registry PITPNM2
NextProtQ9BZ72 [Medical]
TSGene57605
GENETestsPITPNM2
Huge Navigator PITPNM2 [HugePedia]
snp3D : Map Gene to Disease57605
BioCentury BCIQPITPNM2
ClinGenPITPNM2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57605
Chemical/Pharm GKB GenePA134963002
Clinical trialPITPNM2
Miscellaneous
canSAR (ICR)PITPNM2 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePITPNM2
EVEXPITPNM2
GoPubMedPITPNM2
iHOPPITPNM2
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 : Thu Mar 30 15:14:28 CEST 2017

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.