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SSX2IP (synovial sarcoma, X breakpoint 2 interacting protein)

Written2012-03Ghazala Khan, Barbara Guinn
University of Bedfordshire, Division of Science, Park Square, Luton, Bedfordshire, UK (GK, BG); Cancer Sciences Unit, University of Southampton, Southampton, UK (BG); Department of Haematological Medicine, Kings College, London, UK (BG)

(Note : for Links provided by Atlas : click)

Identity

Alias_namessynovial sarcoma
Alias_symbol (synonym)hMsd1
Other aliasADIP
HGNC (Hugo) SSX2IP
LocusID (NCBI) 117178
Atlas_Id 42407
Location 1p22.3  [Link to chromosome band 1p22]
Location_base_pair Starts at 84643707 and ends at 84690557 bp from pter ( according to hg19-Feb_2009)  [Mapping SSX2IP.png]
Fusion genes
(updated 2016)
HS2ST1 (1p22.3) / SSX2IP (1p22.3)
Note SSX2IP gene encodes the protein SSX2IP which interacts with the cancer-testis antigen SSX2. It is thought that SSX2IP regulates the function of SSX2 in the testes and malignant cells. The rodent equivalent is known as afadin DIL domain-interacting protein (ADIP) and the chicken orthologue is called clock-controlled gene (LCG) (Breslin et al., 2007).

DNA/RNA

Note The SSX2IP gene is located on chromosome 1p22.3 (Entrez Gene).
 
  Location of SSX2IP gene on chromosome 1 and the surrounding region.
Description SSX2IP includes over 46 kb and consists of 14 exons however the first one is not translated (de Bruijn et al., 2002).
Transcription The gene contains 33 introns. 18 different mRNAs are produced; 17 spliced and 1 un-spliced form (Thierry-Mieg and Thierry-Mieg, 2006).
Pseudogene A pseudogene of this gene is found on chromosome 3 (provided by RefSeq, Oct 2009 from Entrez Gene).

Protein

Note SSX2IP was discovered due to its interaction with SSX2 in a yeast two-hybrid system and believed to regulate the function of SSX2 in the testes and malignant cells (de Bruijn et al., 2002).
 
  Structural representation of SSX2IP protein in human, mouse and chicken showing the binding regions (Breslin et al., 2007).
Description There are 3-4 coil coiled regions in each version of SSX2IP. Only human SSX2IP has a nuclear localisation signal (NLS).
Expression Expression observed in various normal tissues, the highest being in the brain (de Bruijn et al., 2002). It is expressed less but significantly in kidney, testes, spinal cord, liver, heart, lung, pancreas, skeletal muscle, ovary, placenta, foetal liver and foetal brain (Breslin et al., 2007).
Localisation SSX2IP co-localises with SSX2 to the nucleus and some fragments to the cytoplasm (de Bruijn et al., 2002). It has also been seen to localise on the surface of myeloid cell lines and primary AML (Denniss et al., 2007). ADIP co-localises with afadin at adherens junctions and in perinuclear regions (Asada et al., 2003).
Function It has been suggested that SSX2IP regulates the function of SSX2 (de Bruijn et al., 2002). Rodent ADIP binds with F-actin binding proteins afadin and α-actinin and could therefore be involved in forming actin structure at cell-cell adherens junction as well as construction of actin bundle at nectin-based cell adhesion sites (Asada et al., 2003). Through its interaction with the actin-binding protein β-spectrin, ADIP may have a role in actin-dependent organization of the Golgi complex. ADIP binds β'-cop, which is a subunit of the coatomer complex, proposing a role in vesicle trafficking (Asada et al., 2004).

Implicated in

Note
  
Entity Acute myeloid leukaemia
Note SSX2IP expression has been seen to be elevated in 33% of acute myeloid leukaemia patient samples at presentation (Guinn et al., 2005). Peak expression on the surface of myeloid leukaemia cells is during mitosis (Denniss et al., 2007). Patients with the t(15;17) translocation have increased levels of SSX2IP whereas expression is decreased in patients with the t(8;21) translocation (Guinn et al., 2008).
Prognosis Patients with no chromosomal abnormalities showed improved survival rates with elevated expression of SSX2IP. High level of SSX2IP expression is associated with other positive prognostic markers such as days in remission and age at diagnosis (Guinn et al., 2009).
Cytogenetics The t(15;17) translocation leads to PML-RARα product. Overexpression of PML during the cell cycle leads to G1 arrest in normal fibroblasts which cannot occur once PML attaches to RARα. Genes regulating cyclin dependent kinase activity are upregulated in correlation with overexpression of SSX2IP. The t(8;21) translocation generates the AML1-ETO fusion product. Cells with this gene product develop aneuploidy due to decreased regulation at the spindle checkpoint. Low levels of SSX2IP relate to reduced expression of CDC20, a substrate-targeting subunit of the anaphase-promoting complex (Guinn et al., 2008).
  

Bibliography

Afadin- and alpha-actinin-binding protein ADIP directly binds beta'-COP, a subunit of the coatomer complex.
Asada M, Irie K, Yamada A, Takai Y.
Biochem Biophys Res Commun. 2004 Aug 20;321(2):350-4.
PMID 15358183
 
SSX2IP: an emerging role in cancer.
Breslin A, Denniss FA, Guinn BA.
Biochem Biophys Res Commun. 2007 Nov 23;363(3):462-5. Epub 2007 Sep 24. (REVIEW)
PMID 17904521
 
The leukaemia-associated antigen, SSX2IP, is expressed during mitosis on the surface of myeloid leukaemia cells.
Denniss FA, Breslin A, Ingram W, Hardwick NR, Mufti GJ, Guinn BA.
Br J Haematol. 2007 Sep;138(5):668-9.
PMID 17686061
 
Elevated expression of the leukemia-associated antigen SSX2IP predicts survival in acute myeloid leukemia patients who lack detectable cytogenetic rearrangements.
Guinn B, Greiner J, Schmitt M, Mills KI.
Blood. 2009 Jan 29;113(5):1203-4.
PMID 19179477
 
Humoral detection of leukaemia-associated antigens in presentation acute myeloid leukaemia.
Guinn BA, Bland EA, Lodi U, Liggins AP, Tobal K, Petters S, Wells JW, Banham AH, Mufti GJ.
Biochem Biophys Res Commun. 2005 Oct 7;335(4):1293-304.
PMID 16112646
 
SSX2IP expression in acute myeloid leukaemia: an association with mitotic spindle failure in t(8;21), and cell cycle in t(15;17) patients.
Guinn BA, Bullinger L, Thomas NS, Mills KI, Greiner J.
Br J Haematol. 2008 Jan;140(2):250-1. Epub 2007 Nov 19.
PMID 18028484
 
AceView: a comprehensive cDNA-supported gene and transcripts annotation.
Thierry-Mieg D, Thierry-Mieg J.
Genome Biol. 2006;7 Suppl 1:S12.1-14. Epub 2006 Aug 7.
PMID 16925834
 
The cancer-related protein SSX2 interacts with the human homologue of a Ras-like GTPase interactor, RAB3IP, and a novel nuclear protein, SSX2IP.
de Bruijn DR, dos Santos NR, Kater-Baats E, Thijssen J, van den Berk L, Stap J, Balemans M, Schepens M, Merkx G, van Kessel AG.
Genes Chromosomes Cancer. 2002 Jul;34(3):285-98.
PMID 12007189
 

Citation

This paper should be referenced as such :
Khan, G ; Guinn, B
SSX2IP (synovial sarcoma, X breakpoint 2 interacting protein)
Atlas Genet Cytogenet Oncol Haematol. 2012;16(8):552-554.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/SSX2IPID42407ch1p22.html


External links

Nomenclature
HGNC (Hugo)SSX2IP   16509
Cards
AtlasSSX2IPID42407ch1p22
Entrez_Gene (NCBI)SSX2IP  117178  SSX family member 2 interacting protein
AliasesADIP; hMsd1
GeneCards (Weizmann)SSX2IP
Ensembl hg19 (Hinxton)ENSG00000117155 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000117155 [Gene_View]  chr1:84643707-84690557 [Contig_View]  SSX2IP [Vega]
ICGC DataPortalENSG00000117155
TCGA cBioPortalSSX2IP
AceView (NCBI)SSX2IP
Genatlas (Paris)SSX2IP
WikiGenes117178
SOURCE (Princeton)SSX2IP
Genetics Home Reference (NIH)SSX2IP
Genomic and cartography
GoldenPath hg38 (UCSC)SSX2IP  -     chr1:84643707-84690557 -  1p22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)SSX2IP  -     1p22.3   [Description]    (hg19-Feb_2009)
EnsemblSSX2IP - 1p22.3 [CytoView hg19]  SSX2IP - 1p22.3 [CytoView hg38]
Mapping of homologs : NCBISSX2IP [Mapview hg19]  SSX2IP [Mapview hg38]
OMIM608690   
Gene and transcription
Genbank (Entrez)AB023140 AK001710 AK021515 AK023097 AK093173
RefSeq transcript (Entrez)NM_001166293 NM_001166294 NM_001166295 NM_001166417 NM_014021
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)SSX2IP
Cluster EST : UnigeneHs.22587 [ NCBI ]
CGAP (NCI)Hs.22587
Alternative Splicing GalleryENSG00000117155
Gene ExpressionSSX2IP [ NCBI-GEO ]   SSX2IP [ EBI - ARRAY_EXPRESS ]   SSX2IP [ SEEK ]   SSX2IP [ MEM ]
Gene Expression Viewer (FireBrowse)SSX2IP [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)117178
GTEX Portal (Tissue expression)SSX2IP
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y2D8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y2D8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y2D8
Splice isoforms : SwissVarQ9Y2D8
PhosPhoSitePlusQ9Y2D8
Domains : Interpro (EBI)Afadin/alpha-actinin-bd   
Domain families : Pfam (Sanger)ADIP (PF11559)   
Domain families : Pfam (NCBI)pfam11559   
Conserved Domain (NCBI)SSX2IP
DMDM Disease mutations117178
Blocks (Seattle)SSX2IP
SuperfamilyQ9Y2D8
Human Protein AtlasENSG00000117155
Peptide AtlasQ9Y2D8
HPRD10566
IPIIPI00470669   IPI00654832   IPI01015239   IPI00953609   IPI01015092   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y2D8
IntAct (EBI)Q9Y2D8
FunCoupENSG00000117155
BioGRIDSSX2IP
STRING (EMBL)SSX2IP
ZODIACSSX2IP
Ontologies - Pathways
QuickGOQ9Y2D8
Ontology : AmiGOprotein binding  nucleus  cell-cell adherens junction  centrosome cycle  cell adhesion  protein domain specific binding  cell leading edge  centriolar satellite  regulation of Rac protein signal transduction  intraciliary transport involved in cilium assembly  ciliary basal body  protein complex  cilium assembly  regulation of cell motility  
Ontology : EGO-EBIprotein binding  nucleus  cell-cell adherens junction  centrosome cycle  cell adhesion  protein domain specific binding  cell leading edge  centriolar satellite  regulation of Rac protein signal transduction  intraciliary transport involved in cilium assembly  ciliary basal body  protein complex  cilium assembly  regulation of cell motility  
Pathways : KEGGAdherens junction   
NDEx NetworkSSX2IP
Atlas of Cancer Signalling NetworkSSX2IP
Wikipedia pathwaysSSX2IP
Orthology - Evolution
OrthoDB117178
GeneTree (enSembl)ENSG00000117155
Phylogenetic Trees/Animal Genes : TreeFamSSX2IP
HOVERGENQ9Y2D8
HOGENOMQ9Y2D8
Homologs : HomoloGeneSSX2IP
Homology/Alignments : Family Browser (UCSC)SSX2IP
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSSX2IP [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SSX2IP
dbVarSSX2IP
ClinVarSSX2IP
1000_GenomesSSX2IP 
Exome Variant ServerSSX2IP
ExAC (Exome Aggregation Consortium)SSX2IP (select the gene name)
Genetic variants : HAPMAP117178
Genomic Variants (DGV)SSX2IP [DGVbeta]
DECIPHERSSX2IP [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisSSX2IP 
Mutations
ICGC Data PortalSSX2IP 
TCGA Data PortalSSX2IP 
Broad Tumor PortalSSX2IP
OASIS PortalSSX2IP [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSSX2IP  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSSX2IP
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 SSX2IP
DgiDB (Drug Gene Interaction Database)SSX2IP
DoCM (Curated mutations)SSX2IP (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SSX2IP (select a term)
intoGenSSX2IP
NCG5 (London)SSX2IP
Cancer3DSSX2IP(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM608690   
Orphanet
MedgenSSX2IP
Genetic Testing Registry SSX2IP
NextProtQ9Y2D8 [Medical]
TSGene117178
GENETestsSSX2IP
Target ValidationSSX2IP
Huge Navigator SSX2IP [HugePedia]
snp3D : Map Gene to Disease117178
BioCentury BCIQSSX2IP
ClinGenSSX2IP
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD117178
Chemical/Pharm GKB GenePA38155
Clinical trialSSX2IP
Miscellaneous
canSAR (ICR)SSX2IP (select the gene name)
Probes
Litterature
PubMed46 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSSX2IP
EVEXSSX2IP
GoPubMedSSX2IP
iHOPSSX2IP
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon May 22 09:24:13 CEST 2017

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