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STAP2 Gene

protein-coding   GIFtS: 53
GCID: GC19M004324

Signal Transducing Adaptor Family Member 2

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Signal Transducing Adaptor Family Member 21 2     Brk Kinase Substrate2
Breast Tumor Kinase Substrate2 3     Signal-Transducing Adaptor Protein 22
BKS2 3     Signal-Transducing Adaptor Protein-22
BRK Substrate2 3     STAP-23

External Ids:    HGNC: 304301   Entrez Gene: 556202   Ensembl: ENSG000001780787   OMIM: 6078815   UniProtKB: Q9UGK33   

Export aliases for STAP2 gene to outside databases

Previous GC identifers: GC19M004264 GC19M004275 GC19M004086


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 lynch syndrome, and narcolepsy. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is STAP1.

UniProtKB/Swiss-Prot: STAP2_HUMAN, Q9UGK3
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000019.10  NT_011295.12  NC_018930.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the STAP2 gene promoter:
         USF2   STAT3   STAT5A   NF-kappaB   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidSTAP2 promoter sequence
   Search Chromatin IP Primers for STAP2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat STAP2


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19p13.3   HGNC cytogenetic band: 19p13.3

STAP2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
STAP2 gene location

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M004324:  view genomic region     (about GC identifiers)

Start:
4,324,040 bp from pter      End:
4,342,783 bp from pter
Size:
18,744 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: STAP2_HUMAN, Q9UGK3 (See protein sequence)
Recommended Name: Signal-transducing adaptor protein 2  
Size: 403 amino acids; 44894 Da
Subunit: Interacts with PTK6 and CSF1R
1 PDB 3D structure from and Proteopedia for STAP2:
2EL8 (3D)    
Secondary accessions: A6NKK3 Q9NXI2
Alternative splicing: 2 isoforms:  Q9UGK3-1   Q9UGK3-2   (Alu insert from position 358 to 403)

Explore the universe of human proteins at neXtProt for STAP2: NX_Q9UGK3

Explore proteomics data for STAP2 at MOPED

Post-translational modifications: 

  • 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 SRC1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See STAP2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001013863.1  NP_060190.2  

    ENSEMBL proteins: 
     ENSP00000469657   ENSP00000471281   ENSP00000468927   ENSP00000471052   ENSP00000470321  
     ENSP00000472851  

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    Cloud-Clone Corp. CLIAs for STAP2


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR001849 Pleckstrin_homology
     IPR000980 SH2

    Graphical View of Domain Structure for InterPro Entry Q9UGK3

    ProtoNet protein and cluster: Q9UGK3

    2 Blocks protein domains:
    IPB000980 SH2 domain signature
    IPB001849 Pleckstrin-like


    UniProtKB/Swiss-Prot: STAP2_HUMAN, Q9UGK3
    Similarity: Contains 1 PH domain
    Similarity: Contains 1 SH2 domain


    STAP2 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: STAP2_HUMAN, Q9UGK3
    Function: Substrate of protein kinase PTK6. May play a regulatory role in the acute-phase response in systemic
    inflammation and may modulate STAT3 activity

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16365431
         
    STAP2 for ontologies           About GeneDecksing


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Stap2):
     normal 

    STAP2 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Stap2tm1Ayos for STAP2

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for STAP2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for STAP2
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for STAP2

    miRNA
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    miRTarBase miRNAs that target STAP2:
    hsa-mir-375 (MIRT019827)

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    STAP2_HUMAN, Q9UGK3: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus4
    mitochondrion2
    plasma membrane2
    cytosol1
    extracellular1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus ----
    GO:0005737cytoplasm IEA--
    GO:0005886plasma membrane IEA--
    GO:0043231intracellular membrane-bounded organelle ----

    STAP2 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for STAP2
    Interactions:

        GeneGlobe Interaction Network for STAP2

    Selected Interacting proteins for STAP2 (Q9UGK31, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 13)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    STAT5AP422292, 3MINT-58264 MINT-58265 MINT-58273 MINT-58274 MINT-58254 MINT-58266 MINT-58261 MINT-58267 MINT-58258 MINT-58272 MINT-58257 I2D: score=2 
    STAT5BP516922, 3MINT-58271 MINT-58270 MINT-58259 MINT-58275 MINT-58256 MINT-58255 MINT-58269 MINT-58268 MINT-58276 MINT-58260 I2D: score=2 
    IKBKBO149201, 3EBI-1553984,EBI-81266 I2D: score=3 
    MYD88Q998361, 3EBI-1553984,EBI-447677 I2D: score=3 
    CHUKO151113I2D: score=2 
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for STAP2



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for STAP2 gene (2 alternative transcripts): 
    NM_001013841.1  NM_017720.2  

    Unigene Cluster for STAP2:

    Signal transducing adaptor family member 2
    Hs.194385  [show with all ESTs]
    Unigene Representative Sequence: AK125774
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000601956 ENST00000598443 ENST00000600324 ENST00000594605 ENST00000599736
    ENST00000597593 ENST00000596242 ENST00000602007 ENST00000601179 ENST00000601482

    miRNA
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      QuantiTect SYBR Green Assays in human, mouse, rat STAP2
      QuantiFast Probe-based Assays in human, mouse, rat STAP2

    Additional mRNA sequence: 

    AJ245719.1 AK000241.1 AK125774.1 BC000795.1 

    8 DOTS entries:

    DT.210774  DT.100812875  DT.95169797  DT.91663291  DT.100803756  DT.40111859  DT.95169798  DT.100812877 

    Selected AceView cDNA sequences (see all 123):

    AK125774 AW152661 BG740811 AJ245719 CR596893 BU956623 BM552002 BM820456 
    BF515055 BX107197 BM980638 BC000795 BM695192 CB161171 CB116885 CB850669 
    BG752660 AI190504 BM666369 AI832281 AI813678 BG248487 BG386239 BF437542 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for STAP2    About this scheme

    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:                                                                                                                        


    ECgene alternative splicing isoforms for STAP2

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    STAP2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GCCCAGCGGC
    STAP2 Expression
    About this image


    STAP2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Fibroblasts
             Dermal Fibroblasts Dorsal Dermis
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Epiblast (Early Embryonic Tissues)
             Epiblast Cells Epiblast
     
     Brain (Nervous System)
             Cerebellum
     
     Dermis (Integumentary System)
             Dermal Fibroblasts Dorsal Dermis
    STAP2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    STAP2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.194385

    UniProtKB/Swiss-Prot: STAP2_HUMAN, Q9UGK3
    Tissue specificity: Widely expressed

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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for STAP2 gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Stap21 , 5 signal transducing adaptor family member 21, 5 74.86(n)1
    69.98(a)1
      17 (29.10 cM)5
    1067661  NM_145934.21  NP_666046.11 
     559970815 
    lizard
    (Anolis carolinensis)
    Reptilia STAP26
    signal transducing adaptor family member 2
    43(a)
    1 ↔ 1
    GL343531.1(6289-27369)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia stap21 signal transducing adaptor family member 2 50.07(n)
    42.17(a)
      100485111  XM_002934003.2  XP_002934049.1 
    zebrafish
    (Danio rerio)
    Actinopterygii stap2a1 signal transducing adaptor family member 2a 55.51(n)
    50(a)
      327172  NM_198808.1  NP_942103.1 


    ENSEMBL Gene Tree for STAP2 (if available)
    TreeFam Gene Tree for STAP2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for STAP2 gene
    STAP12  
    1 SIMAP similar gene for STAP2 using alignment to 5 protein entries:     STAP2_HUMAN (see all proteins):
    STAP1

    STAP2 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for STAP2 (see all 473)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs735348811,2
    C,F--4324363(+) AAAAGA/TCAGGG 2 -- int14Minor allele frequency- T:0.05WA CSA NA 244
    rs1862451921,2
    --4324369(+) CAGGGC/TGCTTC 2 -- int10--------
    rs1125942461,2
    F--4324390(+) GACTTA/C/GTGTGA 2 -- int12CSA WA 120
    rs2003931731,2
    C--4324407(+) GGTCAC/TACACC 2 -- int10--------
    rs1388783901,2
    C,F--4324452(+) CTTACC/TGGCTG 4 R G mis11Minor allele frequency- T:0.00NA 2840
    rs1493980601,2
    C--4324524(+) TTTGGG/ACTCTG 4 /P /S mis11Minor allele frequency- A:0.00NA 3036
    rs574557841,2
    C,F--4324564(+) TGGCTC/TACGCC 3 V syn1 int13Minor allele frequency- T:0.50WA NA CSA 6
    rs601810221,2
    C,F--4324690(+) TGGACA/GTGGTG 2 -- int11Minor allele frequency- G:0.00CSA 1
    rs755638741,2
    C--4324744(+) GAATCA/GCTTGA 2 -- int10--------
    rs1495240481,2
    C--4324814(+) AGACTA/CCATCT 2 -- int10--------

    HapMap Linkage Disequilibrium report for STAP2 (4324040 - 4342783 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for STAP2 (see all 16):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2718011CNV Deletion23290073
    esv2718005CNV Deletion23290073
    esv2718008CNV Deletion23290073
    dgv537e201CNV Deletion23290073
    esv2718010CNV Deletion23290073
    esv4291CNV Deletion18987735
    dgv3675n71CNV Loss21882294
    dgv3674n71CNV Loss21882294
    nsv833717CNV Loss17160897
    nsv833718CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 607881    OMIM disorders: --

    6 diseases for STAP2:    
    About MalaCards
    lynch syndrome    narcolepsy    sepsis    diabetes mellitus
    breast cancer    leukemia

    1 disease from the University of Copenhagen DISEASES database for STAP2:
    Diabetes mellitus

    STAP2 for disorders           About GeneDecksing

    Genetic Association Database (GAD): STAP2
    Human Genome Epidemiology (HuGE) Navigator: STAP2 (1 document)

    Export disorders for STAP2 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for STAP2 gene, integrated from 10 sources (see all 26):
    (articles sorted by number of sources associating them with STAP2)
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    1. A novel adaptor-like protein which is a substrate for the non- receptor tyrosine kinase, BRK. (PubMed id 10980601)1, 2, 3, 9 Mitchell P.J.... Crompton M.R. (Oncogene 2000)
    2. STAP-2 is phosphorylated at tyrosine-250 by Brk and modulates Brk- mediated STAT3 activation. (PubMed id 19393627)1, 2, 9 Ikeda O.... Matsuda T. (Biochem. Biophys. Res. Commun. 2009)
    3. An approach based on a genome-wide association study reveals candidate loci for narcolepsy. (PubMed id 20677014)1, 4 Shimada M....Tokunaga K. (Hum. Genet. 2010)
    4. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    6. STAP-2/BKS, an adaptor/docking protein, modulates STAT3 activation in acute-phase response through its YXXQ motif. (PubMed id 12540842)1, 2 Minoguchi M.... Yoshimura A. (J. Biol. Chem. 2003)
    7. Human chromosome 19 and related regions in mouse: conservative and lineage-specific evolution. (PubMed id 11441184)1, 3 Dehal P....Stubbs L. (Science 2001)
    8. The protein content of an adaptor protein, STAP-2 is controlled by E3 ubiquitin ligase Cbl. (PubMed id 19401194)1, 9 Sekine Y....Matsuda T. (Biochem. Biophys. Res. Commun. 2009)
    9. Signal-transducing adaptor protein-2 regulates integrin-mediated T cell adhesion through protein degradation of focal adhesion kinase. (PubMed id 17675501)1, 9 Sekine Y....Matsuda T. (J. Immunol. 2007)
    10. Signal-transducing adaptor protein-2 regulates stromal cell-derived factor-1 alpha-induced chemotaxis in T cells. (PubMed id 19933863)1, 9 Sekine Y....Matsuda T. (J. Immunol. 2009)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 55620 HGNC: 30430 AceView: STAP2 Ensembl:ENSG00000178078 euGenes: HUgn55620
    ECgene: STAP2 H-InvDB: STAP2

    (According to HUGE)
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    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for STAP2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
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    Patent Information for STAP2 gene:
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    GeneCards and IP:
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