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

Gene ID: 24055, updated on 19-Feb-2024

Summary

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, Apr 2022]
Expression
Ubiquitous expression in spleen adult (RPKM 19.5), CNS E14 (RPKM 11.0) and 25 other tissues See more
Orthologs
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Genomic context

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

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables SH3 domain binding IBA
Inferred from Biological aspect of Ancestor
more info
 
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

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_001145858.1NP_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:498598
    SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
    cd13308
    Location:63177
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:71173
    PH; PH domain
  2. NM_001145859.1NP_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:510610
    SH2_SH3BP2; Src homology 2 domain found in c-Abl SH3 domain-binding protein-2 (SH3BP2)
    cd13308
    Location:75189
    PH_3BP2; SH3 domain-binding protein 2 Pleckstrin homology (PH) domain
    pfam00169
    Location:83185
    PH; PH domain
  3. NM_011893.3NP_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:454554
    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

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_006503954.3XP_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:454554
    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
  2. XM_006503955.1XP_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:454554
    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

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.