This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009] See more...

Aliases for SSX2IP Gene

Aliases for SSX2IP Gene

  • SSX Family Member 2 Interacting Protein 2 3 5
  • Synovial Sarcoma, X Breakpoint 2 Interacting Protein 2 3
  • Afadin- And Alpha-Actinin-Binding Protein 3 4
  • Afadin DIL Domain-Interacting Protein 3 4
  • SSX2-Interacting Protein 3 4
  • HMsd1 2 3
  • ADIP 3 4
  • KIAA0923 4
  • SSX2IP 5

External Ids for SSX2IP Gene

Previous GeneCards Identifiers for SSX2IP Gene

  • GC00U991126
  • GC01M084247
  • GC01M084397
  • GC01M084531
  • GC01M084532
  • GC01M084821
  • GC01M084881
  • GC01M085109
  • GC01M083219

Summaries for SSX2IP Gene

Entrez Gene Summary for SSX2IP Gene

  • This gene encodes a protein that binds the cancer-testis antigen Synovial Sarcoma X breakpoint 2 protein. The encoded protein may regulate the activity of Synovial Sarcoma X breakpoint 2 protein in malignant cells. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 3. [provided by RefSeq, Oct 2009]

GeneCards Summary for SSX2IP Gene

SSX2IP (SSX Family Member 2 Interacting Protein) is a Protein Coding gene. Among its related pathways are Adherens junction and PAK Pathway. Gene Ontology (GO) annotations related to this gene include protein domain specific binding.

UniProtKB/Swiss-Prot Summary for SSX2IP Gene

  • Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). May connect the nectin-afadin and E-cadherin-catenin system through alpha-actinin and may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha-actinin (By similarity). Involved in cell movement: localizes at the leading edge of moving cells in response to PDGF and is required for the formation of the leading edge and the promotion of cell movement, possibly via activation of Rac signaling (By similarity). Acts as a centrosome maturation factor, probably by maintaining the integrity of the pericentriolar material and proper microtubule nucleation at mitotic spindle poles. The function seems to implicate at least in part WRAP73; the SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome (PubMed:23816619, PubMed:26545777). Involved in ciliogenesis (PubMed:24356449). It is required for targeted recruitment of the BBSome, CEP290, RAB8, and SSTR3 to the cilia (PubMed:24356449).

Gene Wiki entry for SSX2IP Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for SSX2IP Gene

Genomics for SSX2IP Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for SSX2IP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around SSX2IP on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for SSX2IP

Top Transcription factor binding sites by QIAGEN in the SSX2IP gene promoter:
  • ATF-2
  • Bach2
  • CBF(2)
  • Evi-1
  • GATA-2
  • GATA-3
  • NF-Y
  • POU3F2
  • POU3F2 (N-Oct-5a)
  • S8

Genomic Locations for SSX2IP Gene

Latest Assembly
chr1:84,643,706-84,690,803
(GRCh38/hg38)
Size:
47,098 bases
Orientation:
Minus strand

Previous Assembly
chr1:85,109,389-85,156,144
(GRCh37/hg19 by Entrez Gene)
Size:
46,756 bases
Orientation:
Minus strand

chr1:85,109,390-85,156,486
(GRCh37/hg19 by Ensembl)
Size:
47,097 bases
Orientation:
Minus strand

Genomic View for SSX2IP Gene

Genes around SSX2IP on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
SSX2IP Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for SSX2IP Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for SSX2IP Gene

Proteins for SSX2IP Gene

  • Protein details for SSX2IP Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y2D8-ADIP_HUMAN
    Recommended name:
    Afadin- and alpha-actinin-binding protein
    Protein Accession:
    Q9Y2D8
    Secondary Accessions:
    • A8K8W0
    • B4DFE3
    • D3DT13
    • J3KR02
    • Q6P2P8
    • Q6ULS1
    • Q7L168
    • Q9UIX0

    Protein attributes for SSX2IP Gene

    Size:
    614 amino acids
    Molecular mass:
    71236 Da
    Quaternary structure:
    • Interacts with afadin and alpha-actinin (By similarity). Interacts with VAV2 (By similarity). Interacts with SSX2 and SSX3. Does not interact with SSX1 and SSX4 (PubMed:12007189). Interacts with PCM1 (By similarity). Interacts with WRAP73 (PubMed:26545777).
    SequenceCaution:
    • Sequence=BAA76767.2; Type=Erroneous initiation; Evidence={ECO:0000305};
    Miscellaneous:
    • Acts as an acute myeloid leukemia-associated antigen and may be used as a potential immunotherapy target for leukemia (PubMed:17686061, PubMed:19179477).

    Alternative splice isoforms for SSX2IP Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for SSX2IP Gene

Post-translational modifications for SSX2IP Gene

  • Ubiquitination at Lys112, Lys476, and Lys535
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for SSX2IP Gene

Domains & Families for SSX2IP Gene

Gene Families for SSX2IP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for SSX2IP Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for SSX2IP Gene

GenScript: Design optimal peptide antigens:
  • SSX2-interacting protein (ADIP_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9Y2D8

UniProtKB/Swiss-Prot:

ADIP_HUMAN :
  • Both the N-terminal (up to position 79) and the C-terminal (from position 304) sequences are required for interaction with SSX2.
  • Belongs to the ADIP family.
Domain:
  • Both the N-terminal (up to position 79) and the C-terminal (from position 304) sequences are required for interaction with SSX2.
Family:
  • Belongs to the ADIP family.
genes like me logo Genes that share domains with SSX2IP: view

Function for SSX2IP Gene

Molecular function for SSX2IP Gene

UniProtKB/Swiss-Prot Function:
Belongs to an adhesion system, which plays a role in the organization of homotypic, interneuronal and heterotypic cell-cell adherens junctions (AJs). May connect the nectin-afadin and E-cadherin-catenin system through alpha-actinin and may be involved in organization of the actin cytoskeleton at AJs through afadin and alpha-actinin (By similarity). Involved in cell movement: localizes at the leading edge of moving cells in response to PDGF and is required for the formation of the leading edge and the promotion of cell movement, possibly via activation of Rac signaling (By similarity). Acts as a centrosome maturation factor, probably by maintaining the integrity of the pericentriolar material and proper microtubule nucleation at mitotic spindle poles. The function seems to implicate at least in part WRAP73; the SSX2IP:WRAP73 complex is proposed to act as regulator of spindle anchoring at the mitotic centrosome (PubMed:23816619, PubMed:26545777). Involved in ciliogenesis (PubMed:24356449). It is required for targeted recruitment of the BBSome, CEP290, RAB8, and SSTR3 to the cilia (PubMed:24356449).

Phenotypes From GWAS Catalog for SSX2IP Gene

Gene Ontology (GO) - Molecular Function for SSX2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 12007189
GO:0019904 protein domain specific binding IEA --
genes like me logo Genes that share ontologies with SSX2IP: view

Phenotypes for SSX2IP Gene

MGI mutant phenotypes for SSX2IP:
inferred from 1 alleles
GenomeRNAi human phenotypes for SSX2IP:
genes like me logo Genes that share phenotypes with SSX2IP: view

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SSX2IP

Clone products for research

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for SSX2IP Gene

Localization for SSX2IP Gene

Subcellular locations from UniProtKB/Swiss-Prot for SSX2IP Gene

Cell junction, adherens junction. Nucleus. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cytoplasm, cytoskeleton, cilium basal body. Note=Not found at cell-matrix AJs. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for SSX2IP gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 2
plasma membrane 1
extracellular 1
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for SSX2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IEA --
GO:0005815 microtubule organizing center IEA --
GO:0005856 cytoskeleton IEA --
GO:0005912 adherens junction IEA --
genes like me logo Genes that share ontologies with SSX2IP: view

Pathways & Interactions for SSX2IP Gene

PathCards logo

SuperPathways for SSX2IP Gene

SuperPathway Contained pathways
1 Adherens junction
2 PAK Pathway
.36
genes like me logo Genes that share pathways with SSX2IP: view

Pathways by source for SSX2IP Gene

1 KEGG pathway for SSX2IP Gene
1 Qiagen pathway for SSX2IP Gene
  • Epithelial Adherens Junctions

Gene Ontology (GO) - Biological Process for SSX2IP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007098 centrosome cycle IMP 23816619
GO:0007155 cell adhesion IEA --
GO:0030030 cell projection organization IEA --
GO:0035020 regulation of Rac protein signal transduction IEA --
GO:0035735 intraciliary transport involved in cilium assembly IMP 24356449
genes like me logo Genes that share ontologies with SSX2IP: view

No data available for SIGNOR curated interactions for SSX2IP Gene

Drugs & Compounds for SSX2IP Gene

No Compound Related Data Available

Transcripts for SSX2IP Gene

mRNA/cDNA for SSX2IP Gene

5 REFSEQ mRNAs :
15 NCBI additional mRNA sequence :
10 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for SSX2IP

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for SSX2IP Gene

ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b
SP1: - - -
SP2: - -
SP3: - - -
SP4: - - -
SP5:
SP6: -
SP7:

Relevant External Links for SSX2IP Gene

GeneLoc Exon Structure for
SSX2IP

Expression for SSX2IP Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for SSX2IP Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for SSX2IP Gene

This gene is overexpressed in Testis (x5.3) and Brain - Frontal Cortex (BA9) (x4.2).

Protein differential expression in normal tissues from HIPED for SSX2IP Gene

This gene is overexpressed in Liver (41.9) and Testis (20.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for SSX2IP Gene



Protein tissue co-expression partners for SSX2IP Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for SSX2IP

SOURCE GeneReport for Unigene cluster for SSX2IP Gene:

Hs.22587

mRNA Expression by UniProt/SwissProt for SSX2IP Gene:

Q9Y2D8-ADIP_HUMAN
Tissue specificity: Widely expressed, with the highest expression in brain, intermediate expression in kidney, testis, spinal cord, liver, heart, lung, skeletal muscle, ovary, fetal liver and fetal brain, and little to no expression in pancreas and spleen. All specific brain regions showed intermediate to high expression, with highest expression in amygdala. Also expressed in fetal tissues, mainly in liver and brain.

Evidence on tissue expression from TISSUES for SSX2IP Gene

  • Nervous system(4.9)
  • Eye(4.2)
  • Kidney(2.1)
genes like me logo Genes that share expression patterns with SSX2IP: view

Primer products for research

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for SSX2IP Gene

Orthologs for SSX2IP Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for SSX2IP Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia SSX2IP 30 31
  • 99.62 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia SSX2IP 30 31
  • 92.89 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia SSX2IP 30 31
  • 92.78 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Ssx2ip 30 17 31
  • 84.15 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ssx2ip 30
  • 83.88 (n)
Oppossum
(Monodelphis domestica)
Mammalia SSX2IP 31
  • 83 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia SSX2IP 31
  • 70 (a)
OneToOne
Chicken
(Gallus gallus)
Aves SSX2IP 30 31
  • 75.76 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia SSX2IP 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ssx2ip 30
  • 62.96 (n)
Str.8904 30
Zebrafish
(Danio rerio)
Actinopterygii LOC100534665 30
  • 59.68 (n)
SSX2IP (2 of 3) 31
  • 51 (a)
OneToMany
ssx2ip 31
  • 50 (a)
OneToMany
SSX2IP (3 of 3) 31
  • 27 (a)
OneToMany
zgc73314 30
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT2G18876 30
  • 46.96 (n)
Rice
(Oryza sativa)
Liliopsida Os08g0242900 30
  • 44.68 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 30 (a)
OneToOne
Species where no ortholog for SSX2IP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for SSX2IP Gene

ENSEMBL:
Gene Tree for SSX2IP (if available)
TreeFam:
Gene Tree for SSX2IP (if available)
Aminode:
Evolutionary constrained regions (ECRs) for SSX2IP: view image

Paralogs for SSX2IP Gene

Pseudogenes.org Pseudogenes for SSX2IP Gene

genes like me logo Genes that share paralogs with SSX2IP: view

No data available for Paralogs for SSX2IP Gene

Variants for SSX2IP Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for SSX2IP Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
rs1057746 - p.Cys578Arg

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for SSX2IP Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for SSX2IP Gene

Variant ID Type Subtype PubMed ID
esv3893779 CNV gain 25118596

Variation tolerance for SSX2IP Gene

Residual Variation Intolerance Score: 32.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.84; 17.61% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for SSX2IP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
SSX2IP

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for SSX2IP Gene

Disorders for SSX2IP Gene

Additional Disease Information for SSX2IP

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform

No disorders were found for SSX2IP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for SSX2IP Gene

Publications for SSX2IP Gene

  1. The cancer-related protein SSX2 interacts with the human homologue of a Ras-like GTPase interactor, RAB3IP, and a novel nuclear protein, SSX2IP. (PMID: 12007189) de Bruijn DR … van Kessel AG (Genes, chromosomes & cancer 2002) 3 4 23
  2. The conserved Wdr8-hMsd1/SSX2IP complex localises to the centrosome and ensures proper spindle length and orientation. (PMID: 26545777) Hori A … Toda T (Biochemical and biophysical research communications 2015) 3 4
  3. The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone. (PMID: 24356449) Klinger M … Gruss OJ (Molecular biology of the cell 2014) 3 4
  4. The centriolar satellite protein SSX2IP promotes centrosome maturation. (PMID: 23816619) Bärenz F … Gruss OJ (The Journal of cell biology 2013) 3 4
  5. Elevated expression of the leukemia-associated antigen SSX2IP predicts survival in acute myeloid leukemia patients who lack detectable cytogenetic rearrangements. (PMID: 19179477) Guinn B … Mills KI (Blood 2009) 3 4

Products for SSX2IP Gene

Sources for SSX2IP Gene