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ITSN2 (intersectin 2)

Identity

Alias_namesSH3D1B
SH3 domain protein 1B
Alias_symbol (synonym)KIAA1256
SWAP
SH3P18
SWA
PRO2015
Other alias
HGNC (Hugo) ITSN2
LocusID (NCBI) 50618
Atlas_Id 43330
Location 2p23.3  [Link to chromosome band 2p23]
Location_base_pair Starts at 24220319 and ends at 24360528 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)
ATAD2B (2p24.1) / ITSN2 (2p23.3)ITSN2 (2p23.3) / ITSN2 (2p23.3)ITSN2 (2p23.3) / NMT1 (17q21.31)
ITSN2 (2p23.3) / RBM8A (1q21.1)ITSN2 (2p23.3) / SMIM14 (4p14)ATAD2B 2p24.1 / ITSN2 2p23.3
ITSN2 2p23.3 / NMT1 17q21.31

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(2;17)(p23;q21) ITSN2/NMT1

External links

Nomenclature
HGNC (Hugo)ITSN2   6184
Cards
Entrez_Gene (NCBI)ITSN2  50618  intersectin 2
AliasesPRO2015; SH3D1B; SH3P18; SWA; 
SWAP
GeneCards (Weizmann)ITSN2
Ensembl hg19 (Hinxton)ENSG00000198399 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000198399 [Gene_View]  chr2:24220319-24360528 [Contig_View]  ITSN2 [Vega]
ICGC DataPortalENSG00000198399
TCGA cBioPortalITSN2
AceView (NCBI)ITSN2
Genatlas (Paris)ITSN2
WikiGenes50618
SOURCE (Princeton)ITSN2
Genetics Home Reference (NIH)ITSN2
Genomic and cartography
GoldenPath hg38 (UCSC)ITSN2  -     chr2:24220319-24360528 -  2p23.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ITSN2  -     2p23.3   [Description]    (hg19-Feb_2009)
EnsemblITSN2 - 2p23.3 [CytoView hg19]  ITSN2 - 2p23.3 [CytoView hg38]
Mapping of homologs : NCBIITSN2 [Mapview hg19]  ITSN2 [Mapview hg38]
OMIM604464   
Gene and transcription
Genbank (Entrez)AB033082 AF001630 AF038189 AF182198 AF182199
RefSeq transcript (Entrez)NM_001348181 NM_001348182 NM_001348183 NM_001348184 NM_001348185 NM_001348186 NM_006277 NM_019595 NM_147152
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ITSN2
Cluster EST : UnigeneHs.432562 [ NCBI ]
CGAP (NCI)Hs.432562
Alternative Splicing GalleryENSG00000198399
Gene ExpressionITSN2 [ NCBI-GEO ]   ITSN2 [ EBI - ARRAY_EXPRESS ]   ITSN2 [ SEEK ]   ITSN2 [ MEM ]
Gene Expression Viewer (FireBrowse)ITSN2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50618
GTEX Portal (Tissue expression)ITSN2
Human Protein AtlasENSG00000198399-ITSN2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZM3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZM3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZM3
Splice isoforms : SwissVarQ9NZM3
PhosPhoSitePlusQ9NZM3
Domaine pattern : Prosite (Expaxy)C2 (PS50004)    DH_2 (PS50010)    EF_HAND_1 (PS00018)    EF_HAND_2 (PS50222)    EH (PS50031)    PH_DOMAIN (PS50003)    SH3 (PS50002)   
Domains : Interpro (EBI)C2_dom    DH-domain    EF-hand-dom_pair    EF_Hand_1_Ca_BS    EF_hand_dom    EH_dom    Intersectin-2    PH_dom-like    PH_domain    SH3_2    SH3_domain   
Domain families : Pfam (Sanger)C2 (PF00168)    EF-hand_4 (PF12763)    PH_13 (PF16652)    RhoGEF (PF00621)    SH3_1 (PF00018)    SH3_2 (PF07653)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00168    pfam12763    pfam16652    pfam00621    pfam00018    pfam07653    pfam14604   
Domain families : Smart (EMBL)C2 (SM00239)  EFh (SM00054)  EH (SM00027)  PH (SM00233)  RhoGEF (SM00325)  SH3 (SM00326)  
Conserved Domain (NCBI)ITSN2
DMDM Disease mutations50618
Blocks (Seattle)ITSN2
PDB (SRS)1J3T    1UDL    1UE9    1UFF    1UHF    3GF9    3JZY    4IIO   
PDB (PDBSum)1J3T    1UDL    1UE9    1UFF    1UHF    3GF9    3JZY    4IIO   
PDB (IMB)1J3T    1UDL    1UE9    1UFF    1UHF    3GF9    3JZY    4IIO   
PDB (RSDB)1J3T    1UDL    1UE9    1UFF    1UHF    3GF9    3JZY    4IIO   
Structural Biology KnowledgeBase1J3T    1UDL    1UE9    1UFF    1UHF    3GF9    3JZY    4IIO   
SCOP (Structural Classification of Proteins)1J3T    1UDL    1UE9    1UFF    1UHF    3GF9    3JZY    4IIO   
CATH (Classification of proteins structures)1J3T    1UDL    1UE9    1UFF    1UHF    3GF9    3JZY    4IIO   
SuperfamilyQ9NZM3
Human Protein Atlas [tissue]ENSG00000198399-ITSN2 [tissue]
Peptide AtlasQ9NZM3
HPRD09193
IPIIPI00937782   IPI00941398   IPI00892957   IPI00943185   IPI00236575   IPI00020579   IPI00892838   IPI00892624   IPI00892728   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZM3
IntAct (EBI)Q9NZM3
FunCoupENSG00000198399
BioGRIDITSN2
STRING (EMBL)ITSN2
ZODIACITSN2
Ontologies - Pathways
QuickGOQ9NZM3
Ontology : AmiGOSH3/SH2 adaptor activity  Rho guanyl-nucleotide exchange factor activity  calcium ion binding  protein binding  cytoplasm  centrosome  endocytosis  positive regulation of signal transduction  regulation of Rho protein signal transduction  regulation of molecular function  extracellular exosome  positive regulation of dendrite extension  
Ontology : EGO-EBISH3/SH2 adaptor activity  Rho guanyl-nucleotide exchange factor activity  calcium ion binding  protein binding  cytoplasm  centrosome  endocytosis  positive regulation of signal transduction  regulation of Rho protein signal transduction  regulation of molecular function  extracellular exosome  positive regulation of dendrite extension  
NDEx NetworkITSN2
Atlas of Cancer Signalling NetworkITSN2
Wikipedia pathwaysITSN2
Orthology - Evolution
OrthoDB50618
GeneTree (enSembl)ENSG00000198399
Phylogenetic Trees/Animal Genes : TreeFamITSN2
HOVERGENQ9NZM3
HOGENOMQ9NZM3
Homologs : HomoloGeneITSN2
Homology/Alignments : Family Browser (UCSC)ITSN2
Gene fusions - Rearrangements
Fusion : MitelmanATAD2B/ITSN2 [2p24.1/2p23.3]  [t(2;2)(p23;p23)]  
Fusion : MitelmanITSN2/NMT1 [2p23.3/17q21.31]  [t(2;17)(p23;q21)]  
Fusion: TCGA_MDACCATAD2B 2p24.1 ITSN2 2p23.3 BRCA
Fusion: TCGA_MDACCITSN2 2p23.3 NMT1 17q21.31 BRCA
Fusion PortalATAD2B 2p24.1 ITSN2 2p23.3 BRCA
Fusion PortalITSN2 2p23.3 NMT1 17q21.31 BRCA
Fusion : QuiverITSN2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerITSN2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ITSN2
dbVarITSN2
ClinVarITSN2
1000_GenomesITSN2 
Exome Variant ServerITSN2
ExAC (Exome Aggregation Consortium)ENSG00000198399
GNOMAD BrowserENSG00000198399
Genetic variants : HAPMAP50618
Genomic Variants (DGV)ITSN2 [DGVbeta]
DECIPHERITSN2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisITSN2 
Mutations
ICGC Data PortalITSN2 
TCGA Data PortalITSN2 
Broad Tumor PortalITSN2
OASIS PortalITSN2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICITSN2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDITSN2
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 ITSN2
DgiDB (Drug Gene Interaction Database)ITSN2
DoCM (Curated mutations)ITSN2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ITSN2 (select a term)
intoGenITSN2
Cancer3DITSN2(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604464   
Orphanet
DisGeNETITSN2
MedgenITSN2
Genetic Testing Registry ITSN2
NextProtQ9NZM3 [Medical]
TSGene50618
GENETestsITSN2
Target ValidationITSN2
Huge Navigator ITSN2 [HugePedia]
snp3D : Map Gene to Disease50618
BioCentury BCIQITSN2
ClinGenITSN2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50618
Chemical/Pharm GKB GenePA29982
Clinical trialITSN2
Miscellaneous
canSAR (ICR)ITSN2 (select the gene name)
Probes
Litterature
PubMed52 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineITSN2
EVEXITSN2
GoPubMedITSN2
iHOPITSN2
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 : Mon Jun 18 19:26:30 CEST 2018
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