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    SKAP2 src kinase associated phosphoprotein 2 [ Homo sapiens (human) ]

    Gene ID: 8935, updated on 3-Apr-2024

    Summary

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    Official Symbol
    SKAP2provided by HGNC
    Official Full Name
    src kinase associated phosphoprotein 2provided by HGNC
    Primary source
    HGNC:HGNC:15687
    See related
    Ensembl:ENSG00000005020 MIM:605215; AllianceGenome:HGNC:15687
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PRAP; RA70; SAPS; SCAP2; SKAP55R; SKAP-HOM
    Summary
    The protein encoded by this gene shares homology with Src kinase-associated phosphoprotein 1, and is a substrate of Src family kinases. It is an adaptor protein that is thought to play an essential role in the Src signaling pathway, and in regulating proper activation of the immune system. This protein contains an amino terminal coiled-coil domain for self-dimerization, a plecskstrin homology (PH) domain required for interactions with lipids at the membrane, and a Src homology (SH3) domain at the carboxy terminus. Some reports indicate that this protein inhibits actin polymerization through interactions with actin assembly factors, and might negatively regulate the invasiveness of tumors by modulating actin assembly. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2015]
    Expression
    Ubiquitous expression in spleen (RPKM 10.6), appendix (RPKM 9.8) and 24 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    Location:
    7p15.2
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (26654770..26864590, complement)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (26790493..27000391, complement)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (26706687..26904209, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC101928077 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:26653756-26654272 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr7:26657384-26658583 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:26669689-26670190 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:26670191-26670690 Neighboring gene long intergenic non-protein coding RNA 2860 Neighboring gene VISTA enhancer hs296 Neighboring gene ReSE screen-validated silencer GRCh37_chr7:26774177-26774499 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr7:26823633-26824297 Neighboring gene uncharacterized LOC124901606 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:26897041-26897642 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 25791 Neighboring gene ribosomal protein L7a pseudogene 38 Neighboring gene high mobility group box 3 pseudogene 20

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. SKAP2 is downregulated in the villous tissues of patients with missed abortion and regulates growth and migration in trophoblasts through the WAVE2-ARP2/3 signaling pathway. Jin X, et al. Placenta, 2022 Oct. PMID 36126383
    2. Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation. Rutsch N, et al. Diabetes Care, 2021 Aug. PMID 34172489, Free PMC Article
    3. SKAP2, a Candidate Gene for Type 1 Diabetes, Regulates β-Cell Apoptosis and Glycemic Control in Newly Diagnosed Patients. Fløyel T, et al. Diabetes, 2021 Feb. PMID 33203694, Free PMC Article
    4. Src kinase-associated phosphoprotein2 expression is associated with poor prognosis in non-small cell lung cancer. Kuranami S, et al. Anticancer Res, 2015 Apr. PMID 25862907
    5. Genome-wide DNA copy number analysis in pancreatic cancer using high-density single nucleotide polymorphism arrays. Harada T, et al. Oncogene, 2008 Mar 20. PMID 17952125, Free PMC Article

    See all (46) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. SKAP2 acts downstream of CD11b/CD18 and regulates neutrophil effector function.
      Title: SKAP2 acts downstream of CD11b/CD18 and regulates neutrophil effector function.
    2. SKAP2 is downregulated in the villous tissues of patients with missed abortion and regulates growth and migration in trophoblasts through the WAVE2-ARP2/3 signaling pathway.
      Title: SKAP2 is downregulated in the villous tissues of patients with missed abortion and regulates growth and migration in trophoblasts through the WAVE2-ARP2/3 signaling pathway.
    3. The Multiple Roles of the Cytosolic Adapter Proteins ADAP, SKAP1 and SKAP2 for TCR/CD3 -Mediated Signaling Events.
      Title: The Multiple Roles of the Cytosolic Adapter Proteins ADAP, SKAP1 and SKAP2 for TCR/CD3 -Mediated Signaling Events.
    4. Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation.
      Title: Diabetes With Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation.
    5. SKAP2, a Candidate Gene for Type 1 Diabetes, Regulates beta-Cell Apoptosis and Glycemic Control in Newly Diagnosed Patients.
      Title: SKAP2, a Candidate Gene for Type 1 Diabetes, Regulates β-Cell Apoptosis and Glycemic Control in Newly Diagnosed Patients.
    6. Macrophages assemble the appropriate motile machinery to infiltrate tumors and promote disease progression, and implicate SKAP2 as an attractive candidate for therapeutically targeting TAMs.
      Title: SKAP2 Promotes Podosome Formation to Facilitate Tumor-Associated Macrophage Infiltration and Metastatic Progression.
    7. Skap2 is necessary for macrophage migration, chemotaxis, global actin reorganization and local actin reorganization upon integrin engagement.
      Title: Macrophages require Skap2 and Sirpα for integrin-stimulated cytoskeletal rearrangement.
    8. SKAP2 expression levels in NSCLC tissues could be a powerful biomarker of poor prognosis. Therefore, SKAP2 is a promising candidate molecular target for Non-small cell lung cancer treatment.
      Title: Src kinase-associated phosphoprotein2 expression is associated with poor prognosis in non-small cell lung cancer.
    9. results suggest that SKAP2 negatively regulates cell migration and tumor invasion in fibroblasts and glioblastoma cells by suppressing actin assembly induced by the WAVE2-cortactin complex
      Title: The Src substrate SKAP2 regulates actin assembly by interacting with WAVE2 and cortactin proteins.
    10. analysis of substrate specificity of lymphoid-specific tyrosine phosphatase (Lyp) and identification of Src kinase-associated protein of 55 kDa homolog (SKAP-HOM) as a Lyp substrate
      Title: Substrate specificity of lymphoid-specific tyrosine phosphatase (Lyp) and identification of Src kinase-associated protein of 55 kDa homolog (SKAP-HOM) as a Lyp substrate.
    Submit: New GeneRIF Correction See all GeneRIFs (16)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC10411, MGC33304

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in B cell activation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of cell population proliferation IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in signal transduction TAS
    Traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in cytosol TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    is_active_in plasma membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    src kinase-associated phosphoprotein 2
    Names
    Fyn-associated phosphoprotein SKAP55 homologue
    Pyk2/RAFTK-associated protein
    SKAP-55HOM
    SKAP55 homolog
    retinoic acid-induced protein 70
    src family-associated phosphoprotein 2
    src kinase-associated phosphoprotein of 55-related protein
    src-associated adapter protein with PH and SH3 domains

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001303468.2 → NP_001290397.1  src kinase-associated phosphoprotein 2 isoform 2

      See identical proteins and their annotated locations for NP_001290397.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) contains an alternate 5' terminal exon and uses a downstream start codon compared to variant 1. It encodes isoform 2 which has a shorter N-terminus compared to isoform 1.
      Source sequence(s)
      AK299317, BC002893, BC036044, BQ433993, DA714447, DA738803
      UniProtKB/TrEMBL
      B7Z5R3
      Conserved Domains (3) summary
      pfam00169
      Location:7 → 46
      PH; PH domain
      cl17036
      Location:129 → 181
      SH3; Src Homology 3 domain superfamily
      cl17171
      Location:1 → 49
      PH-like; Pleckstrin homology-like domain

    2. NM_003930.5 → NP_003921.2  src kinase-associated phosphoprotein 2 isoform 1

      See identical proteins and their annotated locations for NP_003921.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longer transcript and encodes the longer isoform (1).
      Source sequence(s)
      AK313209, BC002893, BC036044, BQ433993, HY044523
      Consensus CDS
      CCDS5400.1
      UniProtKB/Swiss-Prot
      A4D173, O75563, Q53GP6, Q75MK6, Q75MZ4, Q9UBZ3, Q9UED8
      UniProtKB/TrEMBL
      B7Z5N4
      Related
      ENSP00000005587.2, ENST00000345317.7
      Conserved Domains (3) summary
      cd12045
      Location:301 → 353
      SH3_SKAP2; Src Homology 3 domain of Src Kinase-Associated Phosphoprotein 2
      cd13381
      Location:117 → 221
      PH_Skap-hom_Skap2; Src kinase-associated phosphoprotein homolog and Skap 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:117 → 218
      PH; PH domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      26654770..26864590 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017012771.3 → XP_016868260.1  src kinase-associated phosphoprotein 2 isoform X1

      UniProtKB/Swiss-Prot
      A4D173, O75563, Q53GP6, Q75MK6, Q75MZ4, Q9UBZ3, Q9UED8
      UniProtKB/TrEMBL
      B7Z5N4
      Conserved Domains (3) summary
      cd12045
      Location:301 → 353
      SH3_SKAP2; Src Homology 3 domain of Src Kinase-Associated Phosphoprotein 2
      cd13381
      Location:117 → 221
      PH_Skap-hom_Skap2; Src kinase-associated phosphoprotein homolog and Skap 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:117 → 218
      PH; PH domain

    2. XM_047421010.1 → XP_047276966.1  src kinase-associated phosphoprotein 2 isoform X2

      UniProtKB/TrEMBL
      B7Z5R3

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      26790493..27000391 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054359293.1 → XP_054215268.1  src kinase-associated phosphoprotein 2 isoform X1

      UniProtKB/Swiss-Prot
      A4D173, O75563, Q53GP6, Q75MK6, Q75MZ4, Q9UBZ3, Q9UED8

    2. XM_054359294.1 → XP_054215269.1  src kinase-associated phosphoprotein 2 isoform X2

      UniProtKB/TrEMBL
      B7Z5R3
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75563.1 GenPept UniProtKB/Swiss-Prot:O75563

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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