Human Gene SKAP2 (ENST00000345317.7_7) from GENCODE V47lift37
  Description: src kinase associated phosphoprotein 2, transcript variant 1 (from RefSeq NM_003930.5)
Gencode Transcript: ENST00000345317.7_7
Gencode Gene: ENSG00000005020.13_13
Transcript (Including UTRs)
   Position: hg19 chr7:26,706,687-26,904,209 Size: 197,523 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr7:26,709,719-26,904,048 Size: 194,330 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr7:26,706,687-26,904,209)mRNA (may differ from genome)Protein (359 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
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HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: SKAP2_HUMAN
DESCRIPTION: RecName: Full=Src kinase-associated phosphoprotein 2; AltName: Full=Pyk2/RAFTK-associated protein; AltName: Full=Retinoic acid-induced protein 70; AltName: Full=SKAP55 homolog; Short=SKAP-55HOM; Short=SKAP-HOM; AltName: Full=Src family-associated phosphoprotein 2; AltName: Full=Src kinase-associated phosphoprotein 55-related protein; AltName: Full=Src-associated adapter protein with PH and SH3 domains;
FUNCTION: May be involved in B-cell and macrophage adhesion processes. In B-cells, may act by coupling the B-cell receptor (BCR) to integrin activation. May play a role in src signaling pathway.
SUBUNIT: Homodimer (By similarity). Interacts with PTPNS1. Part of a complex consisting of SKAP2, FYB and PTPNS1. Part of a complex consisting of SKAP2, FYB and LILRB3. May interact with actin (By similarity). Interacts with FYB, which is required for SKAP2 protein stability. Interacts with LAT, GRB2, PTK2B and PRAM1. May interact with FYN, HCK and LYN. Interacts with FASLG.
SUBCELLULAR LOCATION: Cytoplasm.
TISSUE SPECIFICITY: Ubiquitously expressed. Present in platelets (at protein level).
INDUCTION: By retinoic acid.
DOMAIN: The SH3 domain interacts with FYB and PTK2B.
PTM: Phosphorylated in resting platelets. Phosphorylated by FYN on Tyr-261 upon T-cell activation (Probable). Dephosphorylated on Tyr-75 by PTPN22.
SIMILARITY: Belongs to the SKAP family.
SIMILARITY: Contains 1 PH domain.
SIMILARITY: Contains 1 SH3 domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: SKAP2
Diseases sorted by gene-association score: oral candidiasis (13), candidiasis (8), candida glabrata (2), sjogren-larsson syndrome (2), tibial neuropathy (2), tarsal tunnel syndrome (2), opportunistic mycosis (2)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene
  • D004997 Ethinyl Estradiol
  • D013749 Tetrachlorodibenzodioxin
  • D001564 Benzo(a)pyrene
  • D002994 Clofibrate
  • C059514 resveratrol
  • C111118 2',3,3',4',5-pentachloro-4-hydroxybiphenyl
  • C532162 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine
  • D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide
  • D000082 Acetaminophen
  • D000108 Acetylcarnitine
          more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 17.45 RPKM in Whole Blood
Total median expression: 312.51 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -48.60161-0.302 Picture PostScript Text
3' UTR -612.502598-0.236 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011993 - PH_like_dom
IPR001849 - Pleckstrin_homology
IPR001452 - SH3_domain

Pfam Domains:
PF00018 - SH3 domain
PF00169 - PH domain
PF07653 - Variant SH3 domain
PF14604 - Variant SH3 domain

SCOP Domains:
50044 - SH3-domain
50729 - PH domain-like

Protein Data Bank (PDB) 3-D Structure
MuPIT help
3OMH - X-ray MuPIT


ModBase Predicted Comparative 3D Structure on O75563
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The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005070 SH3/SH2 adaptor activity
GO:0005515 protein binding

Biological Process:
GO:0002757 immune response-activating signal transduction
GO:0007165 signal transduction
GO:0008285 negative regulation of cell proliferation
GO:0009967 positive regulation of signal transduction
GO:0042113 B cell activation
GO:0065003 macromolecular complex assembly

Cellular Component:
GO:0005654 nucleoplasm
GO:0005737 cytoplasm
GO:0005829 cytosol
GO:0005886 plasma membrane


-  Descriptions from all associated GenBank mRNAs
  BC036044 - Homo sapiens src kinase associated phosphoprotein 2, mRNA (cDNA clone MGC:33304 IMAGE:5272981), complete cds.
BC002893 - Homo sapiens src kinase associated phosphoprotein 2, mRNA (cDNA clone MGC:10411 IMAGE:3940826), complete cds.
AF051323 - Homo sapiens Src-associated adaptor protein (SAPS) mRNA, complete cds.
AK222885 - Homo sapiens mRNA for src family associated phosphoprotein 2 variant, clone: HEP20990.
AK299317 - Homo sapiens cDNA FLJ50630 complete cds, highly similar to Homo sapiens src family associated phosphoprotein 2 (SCAP2), mRNA.
AB014486 - Homo sapiens mRNA for RA70, complete cds.
AK299216 - Homo sapiens cDNA FLJ51950 complete cds, highly similar to Homo sapiens src family associated phosphoprotein 2 (SCAP2), mRNA.
AJ004886 - Homo sapiens mRNA for SKAP-HOM protein.
AF072166 - Homo sapiens src kinase-associated phosphoprotein 55-related protein mRNA, complete cds.
AK313209 - Homo sapiens cDNA, FLJ93710, Homo sapiens src family associated phosphoprotein 2 (SCAP2), mRNA.
DQ892896 - Synthetic construct clone IMAGE:100005526; FLH191790.01X; RZPDo839G1277D src family associated phosphoprotein 2 (SCAP2) gene, encodes complete protein.
DQ896144 - Synthetic construct Homo sapiens clone IMAGE:100010604; FLH191786.01L; RZPDo839G1267D src family associated phosphoprotein 2 (SCAP2) gene, encodes complete protein.
AB528968 - Synthetic construct DNA, clone: pF1KE0604, Homo sapiens SKAP2 gene for src kinase associated phosphoprotein 2, without stop codon, in Flexi system.
AK311454 - Homo sapiens cDNA, FLJ18496.
JD049774 - Sequence 30798 from Patent EP1572962.
JD039412 - Sequence 20436 from Patent EP1572962.
JD168617 - Sequence 149641 from Patent EP1572962.
JD528930 - Sequence 509954 from Patent EP1572962.
JD430067 - Sequence 411091 from Patent EP1572962.
JD168616 - Sequence 149640 from Patent EP1572962.
JD179310 - Sequence 160334 from Patent EP1572962.
JD283174 - Sequence 264198 from Patent EP1572962.
JD548153 - Sequence 529177 from Patent EP1572962.
JD104124 - Sequence 85148 from Patent EP1572962.
JD048155 - Sequence 29179 from Patent EP1572962.
JD171670 - Sequence 152694 from Patent EP1572962.
JD319166 - Sequence 300190 from Patent EP1572962.
JD324633 - Sequence 305657 from Patent EP1572962.
JD350878 - Sequence 331902 from Patent EP1572962.
JD552694 - Sequence 533718 from Patent EP1572962.
JD115887 - Sequence 96911 from Patent EP1572962.
JD394492 - Sequence 375516 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein O75563 (Reactome details) participates in the following event(s):

R-HSA-391157 p-4Y-SIRPA:CD47 binds SKAP2
R-HSA-391151 p-4Y-SIRPA:CD47:SKAP2 binds FYB
R-HSA-391160 Signal regulatory protein family interactions
R-HSA-1500931 Cell-Cell communication

-  Other Names for This Gene
  Alternate Gene Symbols: A4D173, ENST00000345317.1, ENST00000345317.2, ENST00000345317.3, ENST00000345317.4, ENST00000345317.5, ENST00000345317.6, NM_003930, O75563, PRAP, Q53GP6, Q75MK6, Q75MZ4, Q9UBZ3, Q9UED8, RA70, SAPS, SCAP2, SKAP2_HUMAN, SKAP55R, uc317xfa.1, uc317xfa.2
UCSC ID: ENST00000345317.7_7
RefSeq Accession: NM_003930.5
Protein: O75563 (aka SKAP2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.