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    SH3BP2 SH3 domain binding protein 2 [ Homo sapiens (human) ]

    Gene ID: 6452, updated on 10-Dec-2024

    Summary

    Official Symbol
    SH3BP2provided by HGNC
    Official Full Name
    SH3 domain binding protein 2provided by HGNC
    Primary source
    HGNC:HGNC:10825
    See related
    Ensembl:ENSG00000087266 MIM:602104; AllianceGenome:HGNC:10825
    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
    3BP2; CRBM; CRPM; 3BP-2; RES4-23
    Summary
    The protein encoded by this gene has an N-terminal pleckstrin homology (PH) domain, an SH3-binding proline-rich region, and a C-terminal SH2 domain. The protein binds to the SH3 domains of several proteins including the ABL1 and SYK protein tyrosine kinases , and functions as a cytoplasmic adaptor protein to positively regulate transcriptional activity in T, natural killer (NK), and basophilic cells. Mutations in this gene result in cherubism. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
    Expression
    Ubiquitous expression in spleen (RPKM 16.5), skin (RPKM 14.5) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See SH3BP2 in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    16
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (2793085..2841096)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (2791852..2839552)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (2794812..2842823)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2746569-2747069 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21182 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15178 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15179 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15180 Neighboring gene TNFAIP3 interacting protein 2 Neighboring gene uncharacterized LOC102723763 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2763311-2764135 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2764939-2765507 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15181 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21183 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21184 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21185 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2788339-2788973 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21186 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2789609-2790243 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15182 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21188 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21189 Neighboring gene nonconserved acetylation island sequence 125 enhancer Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21191 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15183 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15184 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15185 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15186 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2821815-2822316 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2827676-2828562 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2828563-2829448 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21192 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21193 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2838931-2839928 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21194 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr4:2844343-2844854 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15187 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15188 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15189 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15190 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21195 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21196 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15191 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21197 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2863877-2864589 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr4:2864590-2865301 Neighboring gene adducin 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2876343-2876870 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2876871-2877396 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21198 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2923771-2924668 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2924669-2925564 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2925565-2926460 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:2927877-2928392 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21199 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21200 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21201 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21202 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr4:2935265-2936132 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15193 Neighboring gene major facilitator superfamily domain containing 10

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ42079, FLJ54978

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables SH3 domain binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables phosphotyrosine residue binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    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

    Preferred Names
    SH3 domain-binding protein 2
    Names
    Abl-SH3 binding protein 2
    TNFAIP3 interacting protein 2
    epididymis secretory sperm binding protein

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    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.

    Genomic

    1. NG_011609.1 RefSeqGene

      Range
      5063..53074
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1334

    mRNA and Protein(s)

    1. NM_001122681.2NP_001116153.1  SH3 domain-binding protein 2 isoform a

      See identical proteins and their annotated locations for NP_001116153.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) represents use of an alternative promoter and 5' UTR and uses a downstream translation start site, compared to variant 3. The resulting isoform (a) has a shorter N-terminus, compared to isoform b. Variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AK225497, AK312286, AL121750
      Consensus CDS
      CCDS33944.1
      UniProtKB/Swiss-Prot
      A6NNC2, B2R5R6, B4DT04, D3DVR0, D6R919, O00500, O15373, P78314, P78315
      UniProtKB/TrEMBL
      A0A384N6E5
      Related
      ENSP00000422168.3, ENST00000503393.8
      Conserved Domains (3) summary
      cd10359
      Location:456556
      SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
      cd13308
      Location:19133
      PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
      cl25751
      Location:254482
      DUF4045; Domain of unknown function (DUF4045)
    2. NM_001145855.2NP_001139327.1  SH3 domain-binding protein 2 isoform c

      See identical proteins and their annotated locations for NP_001139327.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) represents use of an alternative promoter and 5' UTR and uses an alternate translation start site, compared to variant 3. The resulting isoform (c) has a shorter and distinct N-terminus, compared to isoform b.
      Source sequence(s)
      AK299996, AK312286, AL121750, DC391267
      Consensus CDS
      CCDS54715.1
      UniProtKB/Swiss-Prot
      P78314
      Related
      ENSP00000403231.3, ENST00000435136.8
      Conserved Domains (3) summary
      cd10359
      Location:484584
      SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
      cd13308
      Location:47161
      PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
      pfam00169
      Location:55157
      PH; PH domain
    3. NM_001145856.2NP_001139328.1  SH3 domain-binding protein 2 isoform b

      See identical proteins and their annotated locations for NP_001139328.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) encodes the longest isoform (b).
      Source sequence(s)
      AK225497, AL121750, U56386
      Consensus CDS
      CCDS54716.1
      UniProtKB/Swiss-Prot
      P78314
      Related
      ENSP00000424846.2, ENST00000511747.6
      Conserved Domains (3) summary
      PTZ00449
      Location:311539
      PTZ00449; 104 kDa microneme/rhoptry antigen; Provisional
      cd10359
      Location:513613
      SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
      cd13308
      Location:76190
      PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
    4. NM_003023.4NP_003014.3  SH3 domain-binding protein 2 isoform a

      See identical proteins and their annotated locations for NP_003014.3

      Status: REVIEWED

      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 3. The resulting isoform (a) has a shorter N-terminus, compared to isoform b. Both variants 1 and 2 encode the same isoform.
      Source sequence(s)
      AB000462, AK312286, AL121750
      Consensus CDS
      CCDS33944.1
      UniProtKB/Swiss-Prot
      A6NNC2, B2R5R6, B4DT04, D3DVR0, D6R919, O00500, O15373, P78314, P78315
      UniProtKB/TrEMBL
      A0A384N6E5
      Related
      ENST00000356331.10
      Conserved Domains (3) summary
      cd10359
      Location:456556
      SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
      cd13308
      Location:19133
      PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
      cl25751
      Location:254482
      DUF4045; Domain of unknown function (DUF4045)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      2793085..2841096
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      2791852..2839552
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)