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    Sh3bp2 SH3-domain binding protein 2 [ Mus musculus (house mouse) ]

    Gene ID: 24055, updated on 27-Nov-2024

    Summary

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    Official Symbol
    Sh3bp2provided by MGI
    Official Full Name
    SH3-domain binding protein 2provided by MGI
    Primary source
    MGI:MGI:1346349
    See related
    Ensembl:ENSMUSG00000054520 AllianceGenome:MGI:1346349
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    3BP2
    Summary
    Enables SH3 domain binding activity. Predicted to be involved in signal transduction. Is expressed in brain and spinal cord. Used to study cherubism. Human ortholog(s) of this gene implicated in cherubism. Orthologous to human SH3BP2 (SH3 domain binding protein 2). [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in spleen adult (RPKM 19.5), CNS E14 (RPKM 11.0) and 25 other tissues See more
    Orthologs
    human all
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    Genomic context

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    See Sh3bp2 in Genome Data Viewer
    Location:
    5 B2; 5 17.89 cM
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (34683128..34720983)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (34525784..34563639)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene family with sequence homology 193, member A Neighboring gene predicted gene, 57744 Neighboring gene STARR-seq mESC enhancer starr_12839 Neighboring gene STARR-seq mESC enhancer starr_12841 Neighboring gene STARR-positive B cell enhancer ABC_E10314 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:34863580-34863766 Neighboring gene TNFAIP3 interacting protein 2 Neighboring gene STARR-positive B cell enhancer ABC_E10315 Neighboring gene STARR-positive B cell enhancer ABC_E6321 Neighboring gene predicted gene, 22847 Neighboring gene STARR-positive B cell enhancer ABC_E3568 Neighboring gene microRNA 7036b Neighboring gene STARR-seq mESC enhancer starr_12845 Neighboring gene adducin 1 Neighboring gene CapStarr-seq enhancer MGSCv37_chr5:34979450-34979637 Neighboring gene major facilitator superfamily domain containing 10

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: Mouse ENCODE transcriptome data
    • Description: RNA profiling data sets generated by the Mouse ENCODE project.
    • BioProject: PRJNA66167
    • Publication: PMID 25409824
    • Analysis date: n/a

    Bibliography

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    Related articles in PubMed

    1. Timed Regulation of 3BP2 Induction Is Critical for Sustaining CD8(+) T Cell Expansion and Differentiation. Dimitriou ID, et al. Cell Rep, 2018 Jul 31. PMID 30067970, Free PMC Article
    2. Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice. Yoshitaka T, et al. Bone, 2015 Feb. PMID 25445458, Free PMC Article
    3. SH3BP2 gain-of-function mutation exacerbates inflammation and bone loss in a murine collagen-induced arthritis model. Mukai T, et al. PLoS One, 2014. PMID 25144740, Free PMC Article
    4. The adaptor 3BP2 is required for early and late events in FcεRI signaling in human mast cells. Ainsua-Enrich E, et al. J Immunol, 2012 Sep 15. PMID 22896635, Free PMC Article
    5. The 3BP2 adapter protein is required for chemoattractant-mediated neutrophil activation. Chen G, et al. J Immunol, 2012 Sep 1. PMID 22815290

    See all (52) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome.
      Title: Scaffold protein SH3BP2 signalosome is pivotal for immune activation in nephrotic syndrome.
    2. Adaptor protein 3BP2 regulates dectin-1-mediated cellular signalling to induce cytokine expression and NF-kappaB activation.
      Title: Adaptor protein 3BP2 regulates dectin-1-mediated cellular signalling to induce cytokine expression and NF-κB activation.
    3. SH3BP2 Deficiency Ameliorates Murine Systemic Lupus Erythematosus.
      Title: SH3BP2 Deficiency Ameliorates Murine Systemic Lupus Erythematosus.
    4. Sh3bp2 gain-of-function mutation ameliorated clinical and immunological phenotypes in lupus-prone mice.
      Title: Sh3bp2 Gain-Of-Function Mutation Ameliorates Lupus Phenotypes in B6.MRL-Fas(lpr) Mice.
    5. Timed regulation of 3bp2 induction is essential for sustaining CD8(+) T cell expansion and differentiation.
      Title: Timed Regulation of 3BP2 Induction Is Critical for Sustaining CD8(+) T Cell Expansion and Differentiation.
    6. Bone marrow transplantation also ameliorated the inflammation and bone loss in 10-week-old Sh3bp2(knock in) mice.
      Title: Bone marrow transplantation improves autoinflammation and inflammatory bone loss in SH3BP2 knock-in cherubism mice.
    7. These findings suggest that the SH3BP2 cherubism mutation can cause jawbone destruction by promoting osteoclast formation in response to TNF-alpha expressed in cherubism lesions and that SH3BP2 is a key regulator for TNF-alpha-induced osteoclastogenesis
      Title: SH3BP2 cherubism mutation potentiates TNF-α-induced osteoclastogenesis via NFATc1 and TNF-α-mediated inflammatory bone loss.
    8. 3BP2 was needed for LPS-induced activation of macrophage signaling pathways. Having a single Sh3bp2 Gly418Arg allele and PAMP stimulation had a cooperative effect on macrophage activation and inflammatory responses.
      Title: Cherubism allele heterozygosity amplifies microbe-induced inflammatory responses in murine macrophages.
    9. Phosphorylation of SH3BP2 at Y183 is critical for the TNF-alpha production.
      Title: Enhanced TLR-MYD88 signaling stimulates autoinflammation in SH3BP2 cherubism mice and defines the etiology of cherubism.
    10. Gain-of-function of SH3BP2 augments inflammation and bone loss in the CIA model through increased macrophage activation and osteoclast formation.
      Title: SH3BP2 gain-of-function mutation exacerbates inflammation and bone loss in a murine collagen-induced arthritis model.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (1) 
    • Targeted (7)  1 citation

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables SH3 domain binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables phosphotyrosine residue binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in signal transduction IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    SH3 domain-binding protein 2

    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_001145858.1 → NP_001139330.1  SH3 domain-binding protein 2 isoform c

      See identical proteins and their annotated locations for NP_001139330.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (3) represents use of an alternative promoter and 5' UTR and uses an alternate translation start site, compared to variant 2. The resulting isoform (c) has a shorter and distinct N-terminus, compared to isoform b.
      Source sequence(s)
      AK150265, BC085497
      Consensus CDS
      CCDS51469.1
      UniProtKB/TrEMBL
      Q3U1H0, Q3UD40
      Related
      ENSMUSP00000098874.4, ENSMUST00000101316.10
      Conserved Domains (3) summary
      cd10359
      Location:498 → 598
      SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
      cd13308
      Location:63 → 177
      PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:71 → 173
      PH; PH domain

    2. NM_001145859.1 → NP_001139331.1  SH3 domain-binding protein 2 isoform b

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) represents the longest transcript and encodes the longest isoform (b).
      Source sequence(s)
      AK143548, BC085497
      Consensus CDS
      CCDS51470.1
      UniProtKB/TrEMBL
      E9QJU7, Q8C220
      Related
      ENSMUSP00000112554.2, ENSMUST00000118545.8
      Conserved Domains (3) summary
      cd10359
      Location:510 → 610
      SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
      cd13308
      Location:75 → 189
      PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:83 → 185
      PH; PH domain

    3. NM_011893.3 → NP_036023.3  SH3 domain-binding protein 2 isoform a

      See identical proteins and their annotated locations for NP_036023.3

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents use of an alternative promoter and 5' UTR and uses a downstream translation start site, compared to variant 2. The resulting isoform (a) has a shorter N-terminus, compared to isoform b.
      Source sequence(s)
      AK155898, BC085497
      Consensus CDS
      CCDS19215.1
      UniProtKB/TrEMBL
      Q5U3L0, Q8C220
      Related
      ENSMUSP00000070890.8, ENSMUST00000067638.14
      Conserved Domains (2) summary
      cd10359
      Location:454 → 554
      SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
      cd13308
      Location:19 → 133
      PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000071.7 Reference GRCm39 C57BL/6J

      Range
      34683128..34720983
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006503954.3 → XP_006504017.1  SH3 domain-binding protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006504017.1

      UniProtKB/TrEMBL
      Q5U3L0, Q8C220
      Conserved Domains (2) summary
      cd10359
      Location:454 → 554
      SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
      cd13308
      Location:19 → 133
      PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain

    2. XM_006503955.1 → XP_006504018.1  SH3 domain-binding protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006504018.1

      UniProtKB/TrEMBL
      Q5U3L0, Q8C220
      Related
      ENSMUSP00000136671.2, ENSMUST00000179943.3
      Conserved Domains (2) summary
      cd10359
      Location:454 → 554
      SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
      cd13308
      Location:19 → 133
      PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_001136088.1: Suppressed sequence

      Description
      NM_001136088.1: This RefSeq was permanently suppressed because it is redundant with NM_001145859.1.
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q06649.1 GenPept UniProtKB/Swiss-Prot:Q06649

    Gene LinkOut

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