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PSD4 (pleckstrin and Sec7 domain containing 4)

Identity

Alias (NCBI)EFA6B
TIC
HGNC (Hugo) PSD4
HGNC Alias symbTIC
EFA6B
LocusID (NCBI) 23550
Atlas_Id 42559
Location 2q14.1  [Link to chromosome band 2q14]
Location_base_pair Starts at 113173971 and ends at 113209391 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)
HLA-DQB1 (6p21.32)::PSD4 (2q13)LOC100129148 (7q34)::PSD4 (2q13)PSD4 (2q13)::ARHGAP6 (Xp22.2)
PSD4 (2q13)::PSD4 (2q13)

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)PSD4   19096
Cards
Entrez_Gene (NCBI)PSD4    pleckstrin and Sec7 domain containing 4
AliasesEFA6B; TIC
GeneCards (Weizmann)PSD4
Ensembl hg19 (Hinxton)ENSG00000125637 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000125637 [Gene_View]  ENSG00000125637 [Sequence]  chr2:113173971-113209391 [Contig_View]  PSD4 [Vega]
ICGC DataPortalENSG00000125637
TCGA cBioPortalPSD4
AceView (NCBI)PSD4
Genatlas (Paris)PSD4
SOURCE (Princeton)PSD4
Genetics Home Reference (NIH)PSD4
Genomic and cartography
GoldenPath hg38 (UCSC)PSD4  -     chr2:113173971-113209391 +  2q14.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PSD4  -     2q14.1   [Description]    (hg19-Feb_2009)
GoldenPathPSD4 - 2q14.1 [CytoView hg19]  PSD4 - 2q14.1 [CytoView hg38]
ImmunoBaseENSG00000125637
Genome Data Viewer NCBIPSD4 [Mapview hg19]  
OMIM614442   
Gene and transcription
Genbank (Entrez)AA429250 AB208798 AJ459781 AK023421 AK093556
RefSeq transcript (Entrez)NM_012455
Consensus coding sequences : CCDS (NCBI)PSD4
Gene ExpressionPSD4 [ NCBI-GEO ]   PSD4 [ EBI - ARRAY_EXPRESS ]   PSD4 [ SEEK ]   PSD4 [ MEM ]
Gene Expression Viewer (FireBrowse)PSD4 [ Firebrowse - Broad ]
GenevisibleExpression of PSD4 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)23550
GTEX Portal (Tissue expression)PSD4
Human Protein AtlasENSG00000125637-PSD4 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NDX1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NDX1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NDX1
PhosPhoSitePlusQ8NDX1
Domaine pattern : Prosite (Expaxy)PH_DOMAIN (PS50003)    SEC7 (PS50190)   
Domains : Interpro (EBI)PH-like_dom_sf    PH_9    PH_dom-spectrin-type    PH_domain    Sec7_C_sf    Sec7_dom    Sec7_dom_sf   
Domain families : Pfam (Sanger)PH_9 (PF15410)    Sec7 (PF01369)   
Domain families : Pfam (NCBI)pfam15410    pfam01369   
Domain families : Smart (EMBL)PH (SM00233)  Sec7 (SM00222)  
Conserved Domain (NCBI)PSD4
SuperfamilyQ8NDX1
AlphaFold pdb e-kbQ8NDX1   
Human Protein Atlas [tissue]ENSG00000125637-PSD4 [tissue]
HPRD15191
Protein Interaction databases
DIP (DOE-UCLA)Q8NDX1
IntAct (EBI)Q8NDX1
BioGRIDPSD4
STRING (EMBL)PSD4
ZODIACPSD4
Ontologies - Pathways
QuickGOQ8NDX1
Ontology : AmiGOguanyl-nucleotide exchange factor activity  phospholipid binding  membrane  regulation of ARF protein signal transduction  cleavage furrow  ruffle membrane  ruffle membrane  regulation of catalytic activity  
Ontology : EGO-EBIguanyl-nucleotide exchange factor activity  phospholipid binding  membrane  regulation of ARF protein signal transduction  cleavage furrow  ruffle membrane  ruffle membrane  regulation of catalytic activity  
Pathways : KEGGKEGG_ENDOCYTOSIS   
NDEx NetworkPSD4
Atlas of Cancer Signalling NetworkPSD4
Wikipedia pathwaysPSD4
Orthology - Evolution
OrthoDB23550
GeneTree (enSembl)ENSG00000125637
Phylogenetic Trees/Animal Genes : TreeFamPSD4
Homologs : HomoloGenePSD4
Homology/Alignments : Family Browser (UCSC)PSD4
Gene fusions - Rearrangements
Fusion : QuiverPSD4
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPSD4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PSD4
dbVarPSD4
ClinVarPSD4
MonarchPSD4
1000_GenomesPSD4 
Exome Variant ServerPSD4
GNOMAD BrowserENSG00000125637
Varsome BrowserPSD4
ACMGPSD4 variants
VarityQ8NDX1
Genomic Variants (DGV)PSD4 [DGVbeta]
DECIPHERPSD4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPSD4 
Mutations
ICGC Data PortalPSD4 
TCGA Data PortalPSD4 
Broad Tumor PortalPSD4
OASIS PortalPSD4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPSD4  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPSD4
Mutations and Diseases : HGMDPSD4
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPSD4
DgiDB (Drug Gene Interaction Database)PSD4
DoCM (Curated mutations)PSD4
CIViC (Clinical Interpretations of Variants in Cancer)PSD4
Cancer3DPSD4
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614442   
Orphanet
DisGeNETPSD4
MedgenPSD4
Genetic Testing Registry PSD4
NextProtQ8NDX1 [Medical]
GENETestsPSD4
Target ValidationPSD4
Huge Navigator PSD4 [HugePedia]
ClinGenPSD4
Clinical trials, drugs, therapy
MyCancerGenomePSD4
Protein Interactions : CTDPSD4
Pharm GKB GenePA134875981
PharosQ8NDX1
Clinical trialPSD4
Miscellaneous
canSAR (ICR)PSD4
HarmonizomePSD4
ARCHS4PSD4
DataMed IndexPSD4
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPSD4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:54:11 CET 2022

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