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PSD3 (pleckstrin and Sec7 domain containing 3)

Identity

Alias_symbol (synonym)KIAA0942
HCA67
EFA6R
DKFZp761K1423
EFA6D
Other alias
HGNC (Hugo) PSD3
LocusID (NCBI) 23362
Atlas_Id 43654
Location 8p22  [Link to chromosome band 8p22]
Location_base_pair Starts at 18527303 and ends at 18808895 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
C14orf37 (14q23.1) / PSD3 (8p22)PPP3CC (8p21.3) / PSD3 (8p22)PSD3 (8p22) / CSGALNACT1 (8p21.3)
PSD3 (8p22) / GNGT1 (7q21.3)PSD3 (8p22) / MYO1D (17q11.2)PSD3 (8p22) / PAGE4 (Xp11.23)
PSD3 (8p22) / SNRPN (15q11.2)PSMC5 (17q23.3) / PSD3 (8p22)WHSC1L1 (8p11.23) / PSD3 (8p22)
PSD3 8p22 / PAGE4 Xp11.23WHSC1L1 8p11.23 / PSD3 8p22

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 ]
  t(8;8)(p21;p22) ENTPD4/PSD3

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(8;8)(p21;p22) PSD3/CSGALNACT1
t(X;8)(p11;p22) PSD3/PAGE4

External links

Nomenclature
HGNC (Hugo)PSD3   19093
Cards
Entrez_Gene (NCBI)PSD3  23362  pleckstrin and Sec7 domain containing 3
AliasesEFA6D; EFA6R; HCA67
GeneCards (Weizmann)PSD3
Ensembl hg19 (Hinxton)ENSG00000156011 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000156011 [Gene_View]  ENSG00000156011 [Sequence]  chr8:18527303-18808895 [Contig_View]  PSD3 [Vega]
ICGC DataPortalENSG00000156011
TCGA cBioPortalPSD3
AceView (NCBI)PSD3
Genatlas (Paris)PSD3
WikiGenes23362
SOURCE (Princeton)PSD3
Genetics Home Reference (NIH)PSD3
Genomic and cartography
GoldenPath hg38 (UCSC)PSD3  -     chr8:18527303-18808895 -  8p22   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PSD3  -     8p22   [Description]    (hg19-Feb_2009)
GoldenPathPSD3 - 8p22 [CytoView hg19]  PSD3 - 8p22 [CytoView hg38]
ImmunoBaseENSG00000156011
Mapping of homologs : NCBIPSD3 [Mapview hg19]  PSD3 [Mapview hg38]
OMIM614440   
Gene and transcription
Genbank (Entrez)AB023159 AF243495 AF519767 AK091317 AK296546
RefSeq transcript (Entrez)NM_001362819 NM_015310 NM_206909
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PSD3
Cluster EST : UnigeneHs.434255 [ NCBI ]
CGAP (NCI)Hs.434255
Alternative Splicing GalleryENSG00000156011
Gene ExpressionPSD3 [ NCBI-GEO ]   PSD3 [ EBI - ARRAY_EXPRESS ]   PSD3 [ SEEK ]   PSD3 [ MEM ]
Gene Expression Viewer (FireBrowse)PSD3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23362
GTEX Portal (Tissue expression)PSD3
Human Protein AtlasENSG00000156011-PSD3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NYI0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NYI0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NYI0
Splice isoforms : SwissVarQ9NYI0
PhosPhoSitePlusQ9NYI0
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    SEC7 (PS50190)   
Domains : Interpro (EBI)PH-like_dom_sf    PH_domain    Sec7_C_sf    Sec7_dom    Sec7_dom_sf   
Domain families : Pfam (Sanger)Sec7 (PF01369)   
Domain families : Pfam (NCBI)pfam01369   
Domain families : Smart (EMBL)PH (SM00233)  Sec7 (SM00222)  
Conserved Domain (NCBI)PSD3
DMDM Disease mutations23362
Blocks (Seattle)PSD3
SuperfamilyQ9NYI0
Human Protein Atlas [tissue]ENSG00000156011-PSD3 [tissue]
Peptide AtlasQ9NYI0
HPRD11462
IPIIPI00410060   IPI00166002   IPI00552648   IPI00020122   IPI00178366   IPI00909720   IPI01013100   IPI00979778   IPI00977293   IPI00979065   IPI00974384   IPI01011357   IPI00974454   
Protein Interaction databases
DIP (DOE-UCLA)Q9NYI0
IntAct (EBI)Q9NYI0
FunCoupENSG00000156011
BioGRIDPSD3
STRING (EMBL)PSD3
ZODIACPSD3
Ontologies - Pathways
QuickGOQ9NYI0
Ontology : AmiGOARF guanyl-nucleotide exchange factor activity  postsynaptic density  cell junction  regulation of ARF protein signal transduction  ruffle membrane  ruffle membrane  postsynaptic membrane  
Ontology : EGO-EBIARF guanyl-nucleotide exchange factor activity  postsynaptic density  cell junction  regulation of ARF protein signal transduction  ruffle membrane  ruffle membrane  postsynaptic membrane  
Pathways : KEGGEndocytosis   
NDEx NetworkPSD3
Atlas of Cancer Signalling NetworkPSD3
Wikipedia pathwaysPSD3
Orthology - Evolution
OrthoDB23362
GeneTree (enSembl)ENSG00000156011
Phylogenetic Trees/Animal Genes : TreeFamPSD3
HOGENOMQ9NYI0
Homologs : HomoloGenePSD3
Homology/Alignments : Family Browser (UCSC)PSD3
Gene fusions - Rearrangements
Fusion : MitelmanPSD3/CSGALNACT1 [8p22/8p21.3]  
Fusion : MitelmanPSD3/PAGE4 [8p22/Xp11.23]  [t(X;8)(p11;p22)]  
Fusion PortalPSD3 8p22 PAGE4 Xp11.23 BRCA
Fusion PortalWHSC1L1 8p11.23 PSD3 8p22 BRCA
Fusion : QuiverPSD3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPSD3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSD3
dbVarPSD3
ClinVarPSD3
1000_GenomesPSD3 
Exome Variant ServerPSD3
ExAC (Exome Aggregation Consortium)ENSG00000156011
GNOMAD BrowserENSG00000156011
Varsome BrowserPSD3
Genetic variants : HAPMAP23362
Genomic Variants (DGV)PSD3 [DGVbeta]
DECIPHERPSD3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPSD3 
Mutations
ICGC Data PortalPSD3 
TCGA Data PortalPSD3 
Broad Tumor PortalPSD3
OASIS PortalPSD3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPSD3  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPSD3
Mutations and Diseases : HGMDPSD3
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 PSD3
DgiDB (Drug Gene Interaction Database)PSD3
DoCM (Curated mutations)PSD3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PSD3 (select a term)
intoGenPSD3
Cancer3DPSD3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614440   
Orphanet
DisGeNETPSD3
MedgenPSD3
Genetic Testing Registry PSD3
NextProtQ9NYI0 [Medical]
TSGene23362
GENETestsPSD3
Target ValidationPSD3
Huge Navigator PSD3 [HugePedia]
snp3D : Map Gene to Disease23362
BioCentury BCIQPSD3
ClinGenPSD3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD23362
Chemical/Pharm GKB GenePA128394629
Clinical trialPSD3
Miscellaneous
canSAR (ICR)PSD3 (select the gene name)
DataMed IndexPSD3
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePSD3
EVEXPSD3
GoPubMedPSD3
iHOPPSD3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 18:02:54 CET 2019
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