Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

SYNJ2 (synaptojanin 2)

Identity

Alias_symbol (synonym)INPP5H
Other alias
HGNC (Hugo) SYNJ2
LocusID (NCBI) 8871
Atlas_Id 43522
Location 6q25.3  [Link to chromosome band 6q25]
Location_base_pair Starts at 157981856 and ends at 158099175 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)
ATG5 (6q21) / SYNJ2 (6q25.3)SYNJ2 (6q25.3) / CDK19 (6q21)SYNJ2 (6q25.3) / ZDHHC14 (6q25.3)
TULP4 (6q25.3) / SYNJ2 (6q25.3)ATG5 6q21 / SYNJ2 6q25.3SYNJ2 6q25.3 / CDK19 6q21
SYNJ2 6q25.3 / ZDHHC14 6q25.3TULP4 6q25.3 / SYNJ2 6q25.3

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) [ 4 ]
  t(6;6)(q21;q25) ATG5/SYNJ2
t(6;6)(q21;q25) SYNJ2/CDK19
SYNJ2/ZDHHC14 (6q25)
TULP4/SYNJ2 (6q25)


External links

Nomenclature
HGNC (Hugo)SYNJ2   11504
Cards
Entrez_Gene (NCBI)SYNJ2  8871  synaptojanin 2
AliasesINPP5H
GeneCards (Weizmann)SYNJ2
Ensembl hg19 (Hinxton)ENSG00000078269 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078269 [Gene_View]  ENSG00000078269 [Sequence]  chr6:157981856-158099175 [Contig_View]  SYNJ2 [Vega]
ICGC DataPortalENSG00000078269
TCGA cBioPortalSYNJ2
AceView (NCBI)SYNJ2
Genatlas (Paris)SYNJ2
WikiGenes8871
SOURCE (Princeton)SYNJ2
Genetics Home Reference (NIH)SYNJ2
Genomic and cartography
GoldenPath hg38 (UCSC)SYNJ2  -     chr6:157981856-158099175 +  6q25.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SYNJ2  -     6q25.3   [Description]    (hg19-Feb_2009)
EnsemblSYNJ2 - 6q25.3 [CytoView hg19]  SYNJ2 - 6q25.3 [CytoView hg38]
Mapping of homologs : NCBISYNJ2 [Mapview hg19]  SYNJ2 [Mapview hg38]
OMIM609410   
Gene and transcription
Genbank (Entrez)AB002346 AF039945 AF086449 AF318616 AK074294
RefSeq transcript (Entrez)NM_001178088 NM_003898
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SYNJ2
Cluster EST : UnigeneHs.434494 [ NCBI ]
CGAP (NCI)Hs.434494
Alternative Splicing GalleryENSG00000078269
Gene ExpressionSYNJ2 [ NCBI-GEO ]   SYNJ2 [ EBI - ARRAY_EXPRESS ]   SYNJ2 [ SEEK ]   SYNJ2 [ MEM ]
Gene Expression Viewer (FireBrowse)SYNJ2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8871
GTEX Portal (Tissue expression)SYNJ2
Human Protein AtlasENSG00000078269-SYNJ2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO15056   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO15056  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO15056
Splice isoforms : SwissVarO15056
PhosPhoSitePlusO15056
Domaine pattern : Prosite (Expaxy)RRM (PS50102)    SAC (PS50275)   
Domains : Interpro (EBI)DUF1866    Endo/exonu/phosph_ase_sf    Endo/exonuclease/phosphatase    IPPc    Nucleotide-bd_a/b_plait_sf    RBD_domain_sf    RRM_dom    SAC_dom    SYNJ2    SYNJ2_RRM   
Domain families : Pfam (Sanger)DUF1866 (PF08952)    Exo_endo_phos (PF03372)    Syja_N (PF02383)   
Domain families : Pfam (NCBI)pfam08952    pfam03372    pfam02383   
Domain families : Smart (EMBL)DUF1866 (SM01165)  IPPc (SM00128)  
Conserved Domain (NCBI)SYNJ2
DMDM Disease mutations8871
Blocks (Seattle)SYNJ2
PDB (SRS)1UFW   
PDB (PDBSum)1UFW   
PDB (IMB)1UFW   
PDB (RSDB)1UFW   
Structural Biology KnowledgeBase1UFW   
SCOP (Structural Classification of Proteins)1UFW   
CATH (Classification of proteins structures)1UFW   
SuperfamilyO15056
Human Protein Atlas [tissue]ENSG00000078269-SYNJ2 [tissue]
Peptide AtlasO15056
HPRD10259
IPIIPI00300621   IPI00477078   IPI00515001   IPI00640409   IPI00844344   IPI00643184   IPI00980500   
Protein Interaction databases
DIP (DOE-UCLA)O15056
IntAct (EBI)O15056
FunCoupENSG00000078269
BioGRIDSYNJ2
STRING (EMBL)SYNJ2
ZODIACSYNJ2
Ontologies - Pathways
QuickGOO15056
Ontology : AmiGORNA binding  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  inositol-polyphosphate 5-phosphatase activity  protein binding  cytosol  cytoplasmic microtubule  phosphatidylinositol biosynthetic process  brain development  SH3 domain binding  PDZ domain binding  extrinsic component of mitochondrial outer membrane  ruffle membrane  phosphatidylinositol phosphate 4-phosphatase activity  phosphatidylinositol-3-phosphate biosynthetic process  axon terminus  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity  membrane raft  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  perinuclear region of cytoplasm  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  membrane organization  
Ontology : EGO-EBIRNA binding  phosphatidylinositol-3-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity  inositol-polyphosphate 5-phosphatase activity  protein binding  cytosol  cytoplasmic microtubule  phosphatidylinositol biosynthetic process  brain development  SH3 domain binding  PDZ domain binding  extrinsic component of mitochondrial outer membrane  ruffle membrane  phosphatidylinositol phosphate 4-phosphatase activity  phosphatidylinositol-3-phosphate biosynthetic process  axon terminus  phosphatidylinositol-4-phosphate phosphatase activity  phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity  membrane raft  inositol phosphate dephosphorylation  phosphatidylinositol dephosphorylation  perinuclear region of cytoplasm  phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity  membrane organization  
Pathways : KEGGInositol phosphate metabolism    Phosphatidylinositol signaling system   
NDEx NetworkSYNJ2
Atlas of Cancer Signalling NetworkSYNJ2
Wikipedia pathwaysSYNJ2
Orthology - Evolution
OrthoDB8871
GeneTree (enSembl)ENSG00000078269
Phylogenetic Trees/Animal Genes : TreeFamSYNJ2
HOVERGENO15056
HOGENOMO15056
Homologs : HomoloGeneSYNJ2
Homology/Alignments : Family Browser (UCSC)SYNJ2
Gene fusions - Rearrangements
Fusion : MitelmanATG5/SYNJ2 [6q21/6q25.3]  [t(6;6)(q21;q25)]  
Fusion : MitelmanSYNJ2/CDK19 [6q25.3/6q21]  [t(6;6)(q21;q25)]  
Fusion : MitelmanSYNJ2/ZDHHC14 [6q25.3/6q25.3]  [t(6;6)(q25;q25)]  
Fusion : MitelmanTULP4/SYNJ2 [6q25.3/6q25.3]  [t(6;6)(q25;q25)]  
Fusion PortalATG5 6q21 SYNJ2 6q25.3 LUSC
Fusion PortalSYNJ2 6q25.3 CDK19 6q21 BRCA
Fusion PortalSYNJ2 6q25.3 ZDHHC14 6q25.3 BRCA
Fusion PortalTULP4 6q25.3 SYNJ2 6q25.3 BRCA
Fusion : QuiverSYNJ2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSYNJ2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SYNJ2
dbVarSYNJ2
ClinVarSYNJ2
1000_GenomesSYNJ2 
Exome Variant ServerSYNJ2
ExAC (Exome Aggregation Consortium)ENSG00000078269
GNOMAD BrowserENSG00000078269
Varsome BrowserSYNJ2
Genetic variants : HAPMAP8871
Genomic Variants (DGV)SYNJ2 [DGVbeta]
DECIPHERSYNJ2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSYNJ2 
Mutations
ICGC Data PortalSYNJ2 
TCGA Data PortalSYNJ2 
Broad Tumor PortalSYNJ2
OASIS PortalSYNJ2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSYNJ2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSYNJ2
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 SYNJ2
DgiDB (Drug Gene Interaction Database)SYNJ2
DoCM (Curated mutations)SYNJ2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SYNJ2 (select a term)
intoGenSYNJ2
Cancer3DSYNJ2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609410   
Orphanet
DisGeNETSYNJ2
MedgenSYNJ2
Genetic Testing Registry SYNJ2
NextProtO15056 [Medical]
TSGene8871
GENETestsSYNJ2
Target ValidationSYNJ2
Huge Navigator SYNJ2 [HugePedia]
snp3D : Map Gene to Disease8871
BioCentury BCIQSYNJ2
ClinGenSYNJ2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8871
Chemical/Pharm GKB GenePA36286
Clinical trialSYNJ2
Miscellaneous
canSAR (ICR)SYNJ2 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSYNJ2
EVEXSYNJ2
GoPubMedSYNJ2
iHOPSYNJ2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:43:15 CET 2018

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.