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PSD (pleckstrin and Sec7 domain containing)

Identity

Alias_namespleckstrin and Sec7 domain protein
Alias_symbol (synonym)KIAA2011
TYL
PSD1
EFA6A
EFA6
Other alias
HGNC (Hugo) PSD
LocusID (NCBI) 5662
Atlas_Id 41882
Location 10q24.32  [Link to chromosome band 10q24]
Location_base_pair Starts at 102402617 and ends at 102419934 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
LAMP1 (13q34) / PSD (10q24.32)LOC389765 (9q21.33) / PSD (10q24.32)

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)PSD   9507
Cards
Entrez_Gene (NCBI)PSD  5662  pleckstrin and Sec7 domain containing
AliasesEFA6; EFA6A; PSD1; TYL
GeneCards (Weizmann)PSD
Ensembl hg19 (Hinxton)ENSG00000059915 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000059915 [Gene_View]  chr10:102402617-102419934 [Contig_View]  PSD [Vega]
ICGC DataPortalENSG00000059915
TCGA cBioPortalPSD
AceView (NCBI)PSD
Genatlas (Paris)PSD
WikiGenes5662
SOURCE (Princeton)PSD
Genetics Home Reference (NIH)PSD
Genomic and cartography
GoldenPath hg38 (UCSC)PSD  -     chr10:102402617-102419934 -  10q24.32   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PSD  -     10q24.32   [Description]    (hg19-Feb_2009)
EnsemblPSD - 10q24.32 [CytoView hg19]  PSD - 10q24.32 [CytoView hg38]
Mapping of homologs : NCBIPSD [Mapview hg19]  PSD [Mapview hg38]
OMIM602327   
Gene and transcription
Genbank (Entrez)AB095931 AF452641 AI936992 BC037332 BC039259
RefSeq transcript (Entrez)NM_001270965 NM_001270966 NM_002779
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PSD
Cluster EST : UnigeneHs.743732 [ NCBI ]
CGAP (NCI)Hs.743732
Alternative Splicing GalleryENSG00000059915
Gene ExpressionPSD [ NCBI-GEO ]   PSD [ EBI - ARRAY_EXPRESS ]   PSD [ SEEK ]   PSD [ MEM ]
Gene Expression Viewer (FireBrowse)PSD [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)5662
GTEX Portal (Tissue expression)PSD
Protein : pattern, domain, 3D structure
UniProt/SwissProtA5PKW4   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA5PKW4  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA5PKW4
Splice isoforms : SwissVarA5PKW4
PhosPhoSitePlusA5PKW4
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)PSD
DMDM Disease mutations5662
Blocks (Seattle)PSD
SuperfamilyA5PKW4
Human Protein AtlasENSG00000059915
Peptide AtlasA5PKW4
HPRD09085
IPIIPI00217012   IPI00884984   IPI00385148   
Protein Interaction databases
DIP (DOE-UCLA)A5PKW4
IntAct (EBI)A5PKW4
FunCoupENSG00000059915
BioGRIDPSD
STRING (EMBL)PSD
ZODIACPSD
Ontologies - Pathways
QuickGOA5PKW4
Ontology : AmiGOruffle  signal transducer activity  ARF guanyl-nucleotide exchange factor activity  protein binding  phospholipid binding  plasma membrane  signal transduction  postsynaptic density  neuron projection development  regulation of ARF protein signal transduction  dendritic spine  positive regulation of GTPase activity  extrinsic component of postsynaptic endosome membrane  
Ontology : EGO-EBIruffle  signal transducer activity  ARF guanyl-nucleotide exchange factor activity  protein binding  phospholipid binding  plasma membrane  signal transduction  postsynaptic density  neuron projection development  regulation of ARF protein signal transduction  dendritic spine  positive regulation of GTPase activity  extrinsic component of postsynaptic endosome membrane  
Pathways : KEGGEndocytosis   
NDEx NetworkPSD
Atlas of Cancer Signalling NetworkPSD
Wikipedia pathwaysPSD
Orthology - Evolution
OrthoDB5662
GeneTree (enSembl)ENSG00000059915
Phylogenetic Trees/Animal Genes : TreeFamPSD
HOVERGENA5PKW4
HOGENOMA5PKW4
Homologs : HomoloGenePSD
Homology/Alignments : Family Browser (UCSC)PSD
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPSD [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSD
dbVarPSD
ClinVarPSD
1000_GenomesPSD 
Exome Variant ServerPSD
ExAC (Exome Aggregation Consortium)PSD (select the gene name)
Genetic variants : HAPMAP5662
Genomic Variants (DGV)PSD [DGVbeta]
DECIPHERPSD [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPSD 
Mutations
ICGC Data PortalPSD 
TCGA Data PortalPSD 
Broad Tumor PortalPSD
OASIS PortalPSD [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPSD  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPSD
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 PSD
DgiDB (Drug Gene Interaction Database)PSD
DoCM (Curated mutations)PSD (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PSD (select a term)
intoGenPSD
Cancer3DPSD(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602327   
Orphanet
MedgenPSD
Genetic Testing Registry PSD
NextProtA5PKW4 [Medical]
TSGene5662
GENETestsPSD
Target ValidationPSD
Huge Navigator PSD [HugePedia]
snp3D : Map Gene to Disease5662
BioCentury BCIQPSD
ClinGenPSD
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD5662
Chemical/Pharm GKB GenePA33854
Clinical trialPSD
Miscellaneous
canSAR (ICR)PSD (select the gene name)
Probes
Litterature
PubMed28 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePSD
EVEXPSD
GoPubMedPSD
iHOPPSD
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 12:51:23 CEST 2017

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