This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by Re... See more...

Aliases for STAP2 Gene

Aliases for STAP2 Gene

  • Signal Transducing Adaptor Family Member 2 2 3 5
  • Signal-Transducing Adaptor Protein 2 3 4
  • Breast Tumor Kinase Substrate 3 4
  • BRK Substrate 3 4
  • BKS 3 4
  • Brk Kinase Substrate 3
  • STAP-2 4

External Ids for STAP2 Gene

Previous GeneCards Identifiers for STAP2 Gene

  • GC19M004264
  • GC19M004275
  • GC19M004086

Summaries for STAP2 Gene

Entrez Gene Summary for STAP2 Gene

  • This gene encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for STAP2 Gene

STAP2 (Signal Transducing Adaptor Family Member 2) is a Protein Coding gene. Diseases associated with STAP2 include Bone Angioendothelial Sarcoma and Diabetes Mellitus, Noninsulin-Dependent. Among its related pathways are Signaling by PTK6 and Signaling by GPCR. An important paralog of this gene is STAP1.

UniProtKB/Swiss-Prot Summary for STAP2 Gene

  • Substrate of protein kinase PTK6. May play a regulatory role in the acute-phase response in systemic inflammation and may modulate STAT3 activity.

Gene Wiki entry for STAP2 Gene

Additional gene information for STAP2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for STAP2 Gene

Genomics for STAP2 Gene

GeneHancer (GH) Regulatory Elements for STAP2 Gene

Promoters and enhancers for STAP2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J004340 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 533.7 -0.1 -57 4.3 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 USF1 POLR2G SP1 NCOR1 STAP2 MPND ENSG00000267030 CACTIN-AS1 DPP9-AS1 APBA3 DAPK3 FSD1 TMIGD2 SHD
GH19J004337 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas 534.8 +4.1 4089 2.2 EP300 ZNF217 POLR2G POLR2A TARDBP RFX1 TGIF2 CTBP1 SKI TEAD1 STAP2 ENSG00000269425 piR-57133-291
GH19J004300 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 12.1 +39.7 39678 5 ZNF217 NRF1 SIX5 ZNF623 ZBTB26 CTBP1 HDAC2 KDM4B ZNF341 RBM25 FSD1 TMIGD2 ENSG00000267205 STAP2
GH19J004326 Promoter/Enhancer 1.6 Ensembl ENCODE CraniofacialAtlas 13.5 +14.7 14685 3.4 HNRNPK MYC NRF1 USF1 SP1 TEAD4 AFF1 GABPA SAP30 REST HSALNG0123362 APBA3 ENSG00000267030 CACTIN-AS1 CACTIN ENSG00000267769 STAP2 YJU2 DPP9-AS1 HDGFL2
GH19J004347 Enhancer 0.6 Ensembl ENCODE 26.1 -4.7 -4715 2.2 ZNF10 RBM25 ZNF189 FOXM1 EIF1P6 lnc-STAP2-1 STAP2 SH3GL1 TMIGD2 FSD1 SHD CHAF1A MPND ENSG00000269807
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around STAP2 on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for STAP2

Top Transcription factor binding sites by QIAGEN in the STAP2 gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • STAT3
  • STAT5A
  • USF2

Genomic Locations for STAP2 Gene

Genomic Locations for STAP2 Gene
chr19:4,324,043-4,342,786
(GRCh38/hg38)
Size:
18,744 bases
Orientation:
Minus strand
chr19:4,324,040-4,342,783
(GRCh37/hg19)
Size:
18,744 bases
Orientation:
Minus strand

Genomic View for STAP2 Gene

Genes around STAP2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
STAP2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for STAP2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for STAP2 Gene

Proteins for STAP2 Gene

  • Protein details for STAP2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UGK3-STAP2_HUMAN
    Recommended name:
    Signal-transducing adaptor protein 2
    Protein Accession:
    Q9UGK3
    Secondary Accessions:
    • A6NKK3
    • Q9NXI2

    Protein attributes for STAP2 Gene

    Size:
    403 amino acids
    Molecular mass:
    44894 Da
    Quaternary structure:
    • Interacts with PTK6 and CSF1R.
    Miscellaneous:
    • [Isoform 2]: Alu insert from position 358 to 403.

    Three dimensional structures from OCA and Proteopedia for STAP2 Gene

    Alternative splice isoforms for STAP2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for STAP2 Gene

Post-translational modifications for STAP2 Gene

  • Phosphorylated on tyrosine. Tyr-250 may be important for interaction with kinases. Phosphorylated by PTK6 at Tyr-250 modulates PTK6-mediated STAT3 activation. Tyr-22 and Tyr-322 appears to be phosphorylated by SRC.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for STAP2 Gene

Domains & Families for STAP2 Gene

Gene Families for STAP2 Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for STAP2 Gene

Blocks:
  • Pleckstrin-like
  • SH2 domain signature
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for STAP2 Gene

GenScript: Design optimal peptide antigens:
  • Breast tumor kinase substrate (STAP2_HUMAN)
genes like me logo Genes that share domains with STAP2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for STAP2 Gene

Function for STAP2 Gene

Molecular function for STAP2 Gene

UniProtKB/Swiss-Prot Function:
Substrate of protein kinase PTK6. May play a regulatory role in the acute-phase response in systemic inflammation and may modulate STAT3 activity.

Phenotypes From GWAS Catalog for STAP2 Gene

Gene Ontology (GO) - Molecular Function for STAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16365431
GO:0035591 signaling adaptor activity IEA --
genes like me logo Genes that share ontologies with STAP2: view
genes like me logo Genes that share phenotypes with STAP2: view

Animal Models for STAP2 Gene

MGI Knock Outs for STAP2:

Animal Model Products

CRISPR Products

miRNA for STAP2 Gene

miRTarBase miRNAs that target STAP2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAP2

Clone Products

  • Addgene plasmids for STAP2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for STAP2 Gene

Localization for STAP2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for STAP2 Gene

Cytoplasm.

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 STAP2 gene
Compartment Confidence
plasma membrane 4
cytosol 4
nucleus 3
extracellular 2
mitochondrion 2
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
endosome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for STAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol TAS --
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with STAP2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for STAP2 Gene

Pathways & Interactions for STAP2 Gene

genes like me logo Genes that share pathways with STAP2: view

Pathways by source for STAP2 Gene

3 Reactome pathways for STAP2 Gene
1 Cell Signaling Technology pathway for STAP2 Gene

SIGNOR curated interactions for STAP2 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for STAP2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0009967 positive regulation of signal transduction IEA --
GO:0042531 positive regulation of tyrosine phosphorylation of STAT protein TAS --
genes like me logo Genes that share ontologies with STAP2: view

Drugs & Compounds for STAP2 Gene

No Compound Related Data Available

Transcripts for STAP2 Gene

mRNA/cDNA for STAP2 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for STAP2

Clone Products

  • Addgene plasmids for STAP2

Alternative Splicing Database (ASD) splice patterns (SP) for STAP2 Gene

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

Relevant External Links for STAP2 Gene

GeneLoc Exon Structure for
STAP2

Expression for STAP2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for STAP2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for STAP2 Gene

This gene is overexpressed in Colon - Transverse (x6.5), Esophagus - Mucosa (x5.6), Skin - Sun Exposed (Lower leg) (x4.5), and Skin - Not Sun Exposed (Suprapubic) (x4.5).

Protein differential expression in normal tissues from HIPED for STAP2 Gene

This gene is overexpressed in Breast (49.4), Colon (9.4), and Pancreas (8.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for STAP2 Gene



Protein tissue co-expression partners for STAP2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for STAP2

SOURCE GeneReport for Unigene cluster for STAP2 Gene:

Hs.194385

mRNA Expression by UniProt/SwissProt for STAP2 Gene:

Q9UGK3-STAP2_HUMAN
Tissue specificity: Widely expressed.

Evidence on tissue expression from TISSUES for STAP2 Gene

  • Intestine(4.4)
  • Liver(2.4)
  • Skin(2.3)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with STAP2: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for STAP2 Gene

Orthologs for STAP2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for STAP2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia STAP2 31 30
  • 80.64 (n)
OneToOne
dog
(Canis familiaris)
Mammalia STAP2 31 30
  • 79.21 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Stap2 30
  • 75.18 (n)
mouse
(Mus musculus)
Mammalia Stap2 17 31 30
  • 74.86 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia STAP2 31
  • 63 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia STAP2 31
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia STAP2 31
  • 43 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia stap2 30
  • 50.07 (n)
zebrafish
(Danio rerio)
Actinopterygii stap2a 31 30
  • 55.51 (n)
OneToMany
stap2b 31
  • 31 (a)
OneToMany
Species where no ortholog for STAP2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • chimpanzee (Pan troglodytes)
  • 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 (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for STAP2 Gene

ENSEMBL:
Gene Tree for STAP2 (if available)
TreeFam:
Gene Tree for STAP2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for STAP2: view image

Paralogs for STAP2 Gene

Paralogs for STAP2 Gene

(1) SIMAP similar genes for STAP2 Gene using alignment to 5 proteins:

  • STAP2_HUMAN
  • M0QY82_HUMAN
  • M0QZ60_HUMAN
  • M0R0J5_HUMAN
  • M0R2W4_HUMAN
genes like me logo Genes that share paralogs with STAP2: view

Variants for STAP2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for STAP2 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs7247504 - p.Asp93Asn

Additional dbSNP identifiers (rs#s) for STAP2 Gene

Structural Variations from Database of Genomic Variants (DGV) for STAP2 Gene

Variant ID Type Subtype PubMed ID
dgv496e201 CNV deletion 23290073
esv2718005 CNV deletion 23290073
esv2718008 CNV deletion 23290073
esv2718010 CNV deletion 23290073
esv2718011 CNV deletion 23290073
esv3361218 CNV duplication 20981092
esv3643498 CNV loss 21293372
esv3643499 CNV loss 21293372
esv4291 CNV loss 18987735
esv9292 CNV gain 19470904
nsv1071895 CNV deletion 25765185
nsv458328 CNV gain 19166990
nsv578443 CNV gain 21841781
nsv833717 CNV loss 17160897
nsv833718 CNV loss 17160897
nsv833719 CNV loss 17160897

Variation tolerance for STAP2 Gene

Residual Variation Intolerance Score: 67.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.80; 33.90% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for STAP2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
STAP2

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for STAP2 Gene

Disorders for STAP2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for STAP2 Gene - From: DISEASES

Disorder Aliases PubMed IDs
bone angioendothelial sarcoma
  • osseous hemangiosarcoma
diabetes mellitus, noninsulin-dependent
  • niddm
- elite association - COSMIC cancer census association via MalaCards
Search STAP2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for STAP2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with STAP2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for STAP2 Gene

Publications for STAP2 Gene

  1. A novel adaptor-like protein which is a substrate for the non-receptor tyrosine kinase, BRK. (PMID: 10980601) Mitchell PJ … Crompton MR (Oncogene 2000) 2 3 4 23 54
  2. STAP-2 is phosphorylated at tyrosine-250 by Brk and modulates Brk-mediated STAT3 activation. (PMID: 19393627) Ikeda O … Matsuda T (Biochemical and biophysical research communications 2009) 3 4 23 54
  3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PMID: 20677014) Shimada M … Tokunaga K (Human genetics 2010) 3 41 54
  4. The protein content of an adaptor protein, STAP-2 is controlled by E3 ubiquitin ligase Cbl. (PMID: 19401194) Sekine Y … Matsuda T (Biochemical and biophysical research communications 2009) 3 23 54
  5. Signal-transducing adaptor protein-2 regulates stromal cell-derived factor-1 alpha-induced chemotaxis in T cells. (PMID: 19933863) Sekine Y … Matsuda T (Journal of immunology (Baltimore, Md. : 1950) 2009) 3 23 54

Products for STAP2 Gene

Sources for STAP2 Gene