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SYNJ2BP (synaptojanin 2 binding protein)

Identity

Alias_symbol (synonym)Arip2
Other aliasARIP2
OMP25
HGNC (Hugo) SYNJ2BP
LocusID (NCBI) 55333
Atlas_Id 51002
Location 14q24.2  [Link to chromosome band 14q24]
Location_base_pair Starts at 70366496 and ends at 70417090 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)
CDC42BPB (14q32.32) / SYNJ2BP (14q24.2)SYNJ2BP (14q24.2) / COX16 (14q24.2)CDC42BPB 14q32.32 / SYNJ2BP 14q24.2

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(14;14)(q24;q32) CDC42BPB/SYNJ2BP


External links

Nomenclature
HGNC (Hugo)SYNJ2BP   18955
Cards
Entrez_Gene (NCBI)SYNJ2BP  55333  synaptojanin 2 binding protein
AliasesARIP2; OMP25
GeneCards (Weizmann)SYNJ2BP
Ensembl hg19 (Hinxton)ENSG00000213463 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000213463 [Gene_View]  ENSG00000213463 [Sequence]  chr14:70366496-70417090 [Contig_View]  SYNJ2BP [Vega]
ICGC DataPortalENSG00000213463
TCGA cBioPortalSYNJ2BP
AceView (NCBI)SYNJ2BP
Genatlas (Paris)SYNJ2BP
WikiGenes55333
SOURCE (Princeton)SYNJ2BP
Genetics Home Reference (NIH)SYNJ2BP
Genomic and cartography
GoldenPath hg38 (UCSC)SYNJ2BP  -     chr14:70366496-70417090 -  14q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SYNJ2BP  -     14q24.2   [Description]    (hg19-Feb_2009)
EnsemblSYNJ2BP - 14q24.2 [CytoView hg19]  SYNJ2BP - 14q24.2 [CytoView hg38]
Mapping of homologs : NCBISYNJ2BP [Mapview hg19]  SYNJ2BP [Mapview hg38]
OMIM609411   
Gene and transcription
Genbank (Entrez)AK002133 AK123967 AK311719 AY534623 BC007704
RefSeq transcript (Entrez)NM_018373
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SYNJ2BP
Cluster EST : UnigeneHs.704691 [ NCBI ]
CGAP (NCI)Hs.704691
Alternative Splicing GalleryENSG00000213463
Gene ExpressionSYNJ2BP [ NCBI-GEO ]   SYNJ2BP [ EBI - ARRAY_EXPRESS ]   SYNJ2BP [ SEEK ]   SYNJ2BP [ MEM ]
Gene Expression Viewer (FireBrowse)SYNJ2BP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)55333
GTEX Portal (Tissue expression)SYNJ2BP
Human Protein AtlasENSG00000213463-SYNJ2BP [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP57105   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP57105  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP57105
Splice isoforms : SwissVarP57105
PhosPhoSitePlusP57105
Domaine pattern : Prosite (Expaxy)PDZ (PS50106)   
Domains : Interpro (EBI)PDZ    PDZ_sf   
Domain families : Pfam (Sanger)PDZ (PF00595)   
Domain families : Pfam (NCBI)pfam00595   
Domain families : Smart (EMBL)PDZ (SM00228)  
Conserved Domain (NCBI)SYNJ2BP
DMDM Disease mutations55333
Blocks (Seattle)SYNJ2BP
PDB (SRS)2ENO    2JIK    2JIN   
PDB (PDBSum)2ENO    2JIK    2JIN   
PDB (IMB)2ENO    2JIK    2JIN   
PDB (RSDB)2ENO    2JIK    2JIN   
Structural Biology KnowledgeBase2ENO    2JIK    2JIN   
SCOP (Structural Classification of Proteins)2ENO    2JIK    2JIN   
CATH (Classification of proteins structures)2ENO    2JIK    2JIN   
SuperfamilyP57105
Human Protein Atlas [tissue]ENSG00000213463-SYNJ2BP [tissue]
Peptide AtlasP57105
HPRD15455
IPIIPI00299193   
Protein Interaction databases
DIP (DOE-UCLA)P57105
IntAct (EBI)P57105
FunCoupENSG00000213463
BioGRIDSYNJ2BP
STRING (EMBL)SYNJ2BP
ZODIACSYNJ2BP
Ontologies - Pathways
QuickGOP57105
Ontology : AmiGOnegative regulation of endothelial cell proliferation  protein binding  mitochondrion  protein targeting  Rho protein signal transduction  chemical synaptic transmission  protein C-terminus binding  ionotropic glutamate receptor complex  regulation of Notch signaling pathway  negative regulation of endothelial cell migration  basolateral plasma membrane  negative regulation of angiogenesis  cell junction  regulation of endocytosis  integral component of mitochondrial outer membrane  neuromuscular junction  ionotropic glutamate receptor binding  neuron projection  receptor clustering  establishment or maintenance of epithelial cell apical/basal polarity  intracellular distribution of mitochondria  negative regulation of ERK1 and ERK2 cascade  receptor localization to synapse  postsynaptic density membrane  negative regulation of sprouting angiogenesis  
Ontology : EGO-EBInegative regulation of endothelial cell proliferation  protein binding  mitochondrion  protein targeting  Rho protein signal transduction  chemical synaptic transmission  protein C-terminus binding  ionotropic glutamate receptor complex  regulation of Notch signaling pathway  negative regulation of endothelial cell migration  basolateral plasma membrane  negative regulation of angiogenesis  cell junction  regulation of endocytosis  integral component of mitochondrial outer membrane  neuromuscular junction  ionotropic glutamate receptor binding  neuron projection  receptor clustering  establishment or maintenance of epithelial cell apical/basal polarity  intracellular distribution of mitochondria  negative regulation of ERK1 and ERK2 cascade  receptor localization to synapse  postsynaptic density membrane  negative regulation of sprouting angiogenesis  
NDEx NetworkSYNJ2BP
Atlas of Cancer Signalling NetworkSYNJ2BP
Wikipedia pathwaysSYNJ2BP
Orthology - Evolution
OrthoDB55333
GeneTree (enSembl)ENSG00000213463
Phylogenetic Trees/Animal Genes : TreeFamSYNJ2BP
HOVERGENP57105
HOGENOMP57105
Homologs : HomoloGeneSYNJ2BP
Homology/Alignments : Family Browser (UCSC)SYNJ2BP
Gene fusions - Rearrangements
Fusion : MitelmanCDC42BPB/SYNJ2BP [14q32.32/14q24.2]  [t(14;14)(q24;q32)]  
Fusion PortalCDC42BPB 14q32.32 SYNJ2BP 14q24.2 OV
Fusion : QuiverSYNJ2BP
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSYNJ2BP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SYNJ2BP
dbVarSYNJ2BP
ClinVarSYNJ2BP
1000_GenomesSYNJ2BP 
Exome Variant ServerSYNJ2BP
ExAC (Exome Aggregation Consortium)ENSG00000213463
GNOMAD BrowserENSG00000213463
Varsome BrowserSYNJ2BP
Genetic variants : HAPMAP55333
Genomic Variants (DGV)SYNJ2BP [DGVbeta]
DECIPHERSYNJ2BP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSYNJ2BP 
Mutations
ICGC Data PortalSYNJ2BP 
TCGA Data PortalSYNJ2BP 
Broad Tumor PortalSYNJ2BP
OASIS PortalSYNJ2BP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSYNJ2BP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSYNJ2BP
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch SYNJ2BP
DgiDB (Drug Gene Interaction Database)SYNJ2BP
DoCM (Curated mutations)SYNJ2BP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SYNJ2BP (select a term)
intoGenSYNJ2BP
Cancer3DSYNJ2BP(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609411   
Orphanet
DisGeNETSYNJ2BP
MedgenSYNJ2BP
Genetic Testing Registry SYNJ2BP
NextProtP57105 [Medical]
TSGene55333
GENETestsSYNJ2BP
Target ValidationSYNJ2BP
Huge Navigator SYNJ2BP [HugePedia]
snp3D : Map Gene to Disease55333
BioCentury BCIQSYNJ2BP
ClinGenSYNJ2BP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD55333
Chemical/Pharm GKB GenePA38768
Clinical trialSYNJ2BP
Miscellaneous
canSAR (ICR)SYNJ2BP (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSYNJ2BP
EVEXSYNJ2BP
GoPubMedSYNJ2BP
iHOPSYNJ2BP
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:56:03 CEST 2018

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