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    Sh3pxd2b SH3 and PX domains 2B [ Mus musculus (house mouse) ]

    Gene ID: 268396, updated on 9-Dec-2024

    Summary

    Official Symbol
    Sh3pxd2bprovided by MGI
    Official Full Name
    SH3 and PX domains 2Bprovided by MGI
    Primary source
    MGI:MGI:2442062
    See related
    Ensembl:ENSMUSG00000040711 AllianceGenome:MGI:2442062
    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
    TSK4; Tks4; fad49; G431001E03Rik
    Summary
    Enables SH2 domain binding activity and phosphatidylinositol phosphate binding activity. Involved in several processes, including osteoblast fate commitment; podosome assembly; and skeletal system development. Located in cytoplasm and podosome. Is expressed in several structures, including branchial arch; central nervous system; heart; jaw; and skeleton. Used to study glaucoma and otitis media. Human ortholog(s) of this gene implicated in Frank-Ter Haar syndrome. Orthologous to human SH3PXD2B (SH3 and PX domains 2B). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Broad expression in limb E14.5 (RPKM 16.7), subcutaneous fat pad adult (RPKM 14.8) and 22 other tissues See more
    Orthologs
    NEW
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    Try the new Transcript table

    Genomic context

    See Sh3pxd2b in Genome Data Viewer
    Location:
    11 A4; 11 18.89 cM
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 11 NC_000077.7 (32297777..32378189)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 11 NC_000077.6 (32347773..32428189)

    Chromosome 11 - NC_000077.7Genomic Context describing neighboring genes Neighboring gene predicted gene, 46275 Neighboring gene hemoglobin, theta 1A Neighboring gene STARR-seq mESC enhancer starr_29106 Neighboring gene predicted gene, 51948 Neighboring gene ubiquitin domain containing 2 Neighboring gene STARR-positive B cell enhancer ABC_E11474

    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)

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by MGI

    Process Evidence Code Pubs
    involved_in adipose tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in bone development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in cranial skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in extracellular matrix disassembly ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in eye development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in eye development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in heart development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in heart development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in osteoblast fate commitment IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in podosome assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of adipose tissue development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of fat cell differentiation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of gene expression IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of multicellular organism growth IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of stress fiber assembly IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in protein localization to membrane ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in protein localization to membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    involved_in regulation of brood size IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in skeletal system development ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in skeletal system morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in superoxide anion generation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    involved_in superoxide metabolic process ISO
    Inferred from Sequence Orthology
    more info
     
    involved_in superoxide metabolic process ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Component Evidence Code Pubs
    located_in anchoring junction IEA
    Inferred from Electronic Annotation
    more info
     
    located_in cell projection IEA
    Inferred from Electronic Annotation
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in podosome IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    SH3 and PX domain-containing protein 2B
    Names
    factor for adipocyte differentiation 49
    tyrosine kinase substrate with four SH3 domains

    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.

    mRNA and Protein(s)

    1. NM_177364.4NP_796338.2  SH3 and PX domain-containing protein 2B

      See identical proteins and their annotated locations for NP_796338.2

      Status: VALIDATED

      Source sequence(s)
      AK089330, AL662780, BY197208
      Consensus CDS
      CCDS24526.1
      UniProtKB/Swiss-Prot
      A2AAY5, B6F0V1, Q1LZL8, Q1LZM5, Q3TB89, Q8BIC6
      UniProtKB/TrEMBL
      B9EJ37
      Related
      ENSMUSP00000044276.6, ENSMUST00000038753.6
      Conserved Domains (5) summary
      cd06888
      Location:7125
      PX_FISH; The phosphoinositide binding Phox Homology domain of Five SH protein
      cd12018
      Location:851906
      SH3_Tks4_4; Fourth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
      cd12075
      Location:155209
      SH3_Tks4_1; First Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
      cd12076
      Location:224277
      SH3_Tks4_2; Second Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
      cd12078
      Location:372424
      SH3_Tks4_3; Third Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains

    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_000077.7 Reference GRCm39 C57BL/6J

      Range
      32297777..32378189
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006514712.3XP_006514775.1  SH3 and PX domain-containing protein 2B isoform X1

      UniProtKB/TrEMBL
      A0A5F8MPP7, B9EJ37
      Related
      ENSMUSP00000158896.2, ENSMUST00000239041.2
      Conserved Domains (5) summary
      cd06888
      Location:7125
      PX_FISH; The phosphoinositide binding Phox Homology domain of Five SH protein
      cd12018
      Location:879934
      SH3_Tks4_4; Fourth (C-terminal) Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
      cd12075
      Location:155209
      SH3_Tks4_1; First Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
      cd12076
      Location:252305
      SH3_Tks4_2; Second Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains
      cd12078
      Location:400452
      SH3_Tks4_3; Third Src homology 3 domain of Tyrosine kinase substrate with four SH3 domains