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PSD2 (pleckstrin and Sec7 domain containing 2)

Identity

Alias_symbol (synonym)DKFZp761B0514
EFA6C
Other alias
HGNC (Hugo) PSD2
LocusID (NCBI) 84249
Atlas_Id 50395
Location 5q31.2  [Link to chromosome band 5q31]
Location_base_pair Starts at 139795821 and ends at 139844466 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NCOA1 (2p23.3) / PSD2 (5q31.2)NCOA1 2p23.3 / PSD2 5q31.2

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)PSD2   19092
Cards
Entrez_Gene (NCBI)PSD2  84249  pleckstrin and Sec7 domain containing 2
AliasesEFA6C
GeneCards (Weizmann)PSD2
Ensembl hg19 (Hinxton)ENSG00000146005 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146005 [Gene_View]  chr5:139795821-139844466 [Contig_View]  PSD2 [Vega]
ICGC DataPortalENSG00000146005
TCGA cBioPortalPSD2
AceView (NCBI)PSD2
Genatlas (Paris)PSD2
WikiGenes84249
SOURCE (Princeton)PSD2
Genetics Home Reference (NIH)PSD2
Genomic and cartography
GoldenPath hg38 (UCSC)PSD2  -     chr5:139795821-139844466 +  5q31.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PSD2  -     5q31.2   [Description]    (hg19-Feb_2009)
EnsemblPSD2 - 5q31.2 [CytoView hg19]  PSD2 - 5q31.2 [CytoView hg38]
Mapping of homologs : NCBIPSD2 [Mapview hg19]  PSD2 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AL136559 AL834268 AM393868 BC038233 BM663376
RefSeq transcript (Entrez)NM_032289
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PSD2
Cluster EST : UnigeneHs.21963 [ NCBI ]
CGAP (NCI)Hs.21963
Alternative Splicing GalleryENSG00000146005
Gene ExpressionPSD2 [ NCBI-GEO ]   PSD2 [ EBI - ARRAY_EXPRESS ]   PSD2 [ SEEK ]   PSD2 [ MEM ]
Gene Expression Viewer (FireBrowse)PSD2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84249
GTEX Portal (Tissue expression)PSD2
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BQI7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BQI7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BQI7
Splice isoforms : SwissVarQ9BQI7
PhosPhoSitePlusQ9BQI7
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    SEC7 (PS50190)   
Domains : Interpro (EBI)PH_dom-like    PH_dom-spectrin-type    PH_domain    Sec7_alpha_orthog    Sec7_dom   
Domain families : Pfam (Sanger)Sec7 (PF01369)   
Domain families : Pfam (NCBI)pfam01369   
Domain families : Smart (EMBL)PH (SM00233)  Sec7 (SM00222)  
Conserved Domain (NCBI)PSD2
DMDM Disease mutations84249
Blocks (Seattle)PSD2
SuperfamilyQ9BQI7
Human Protein AtlasENSG00000146005
Peptide AtlasQ9BQI7
HPRD15190
IPIIPI00031084   
Protein Interaction databases
DIP (DOE-UCLA)Q9BQI7
IntAct (EBI)Q9BQI7
FunCoupENSG00000146005
BioGRIDPSD2
STRING (EMBL)PSD2
ZODIACPSD2
Ontologies - Pathways
QuickGOQ9BQI7
Ontology : AmiGOARF guanyl-nucleotide exchange factor activity  phospholipid binding  integral component of membrane  dendrite  regulation of ARF protein signal transduction  neuronal cell body  positive regulation of GTPase activity  
Ontology : EGO-EBIARF guanyl-nucleotide exchange factor activity  phospholipid binding  integral component of membrane  dendrite  regulation of ARF protein signal transduction  neuronal cell body  positive regulation of GTPase activity  
Pathways : KEGGEndocytosis   
NDEx NetworkPSD2
Atlas of Cancer Signalling NetworkPSD2
Wikipedia pathwaysPSD2
Orthology - Evolution
OrthoDB84249
GeneTree (enSembl)ENSG00000146005
Phylogenetic Trees/Animal Genes : TreeFamPSD2
HOVERGENQ9BQI7
HOGENOMQ9BQI7
Homologs : HomoloGenePSD2
Homology/Alignments : Family Browser (UCSC)PSD2
Gene fusions - Rearrangements
Fusion : Mitelman-/5q31.2 [PSD2/t(5;5)(q31;q31)]  
Fusion : MitelmanNCOA1/PSD2 [2p23.3/5q31.2]  [t(2;5)(p23;q31)]  
Fusion: TCGANCOA1 2p23.3 PSD2 5q31.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPSD2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSD2
dbVarPSD2
ClinVarPSD2
1000_GenomesPSD2 
Exome Variant ServerPSD2
ExAC (Exome Aggregation Consortium)PSD2 (select the gene name)
Genetic variants : HAPMAP84249
Genomic Variants (DGV)PSD2 [DGVbeta]
DECIPHERPSD2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPSD2 
Mutations
ICGC Data PortalPSD2 
TCGA Data PortalPSD2 
Broad Tumor PortalPSD2
OASIS PortalPSD2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPSD2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPSD2
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 PSD2
DgiDB (Drug Gene Interaction Database)PSD2
DoCM (Curated mutations)PSD2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PSD2 (select a term)
intoGenPSD2
Cancer3DPSD2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenPSD2
Genetic Testing Registry PSD2
NextProtQ9BQI7 [Medical]
TSGene84249
GENETestsPSD2
Target ValidationPSD2
Huge Navigator PSD2 [HugePedia]
snp3D : Map Gene to Disease84249
BioCentury BCIQPSD2
ClinGenPSD2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84249
Chemical/Pharm GKB GenePA134885177
Clinical trialPSD2
Miscellaneous
canSAR (ICR)PSD2 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePSD2
EVEXPSD2
GoPubMedPSD2
iHOPPSD2
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 17:11:51 CEST 2017

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