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    Tbl2 transducin (beta)-like 2 [ Mus musculus (house mouse) ]

    Gene ID: 27368, updated on 8-May-2024

    Summary

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    Official Symbol
    Tbl2provided by MGI
    Official Full Name
    transducin (beta)-like 2provided by MGI
    Primary source
    MGI:MGI:1351652
    See related
    Ensembl:ENSMUSG00000005374 AllianceGenome:MGI:1351652
    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
    WS-bTRP
    Summary
    Predicted to enable phosphoprotein binding activity; protein kinase binding activity; and translation initiation factor binding activity. Predicted to be involved in cellular response to glucose starvation; cellular response to hypoxia; and endoplasmic reticulum unfolded protein response. Predicted to be located in endoplasmic reticulum. Orthologous to human TBL2 (transducin beta like 2). [provided by Alliance of Genome Resources, Apr 2022]
    Expression
    Ubiquitous expression in testis adult (RPKM 13.5), limb E14.5 (RPKM 7.2) and 28 other tissues See more
    Orthologs
    human all
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    Genomic context

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    Location:
    5 G2; 5 75.02 cM
    Exon count:
    8
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 5 NC_000071.7 (135178288..135192727)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 5 NC_000071.6 (135149429..135163873)

    Chromosome 5 - NC_000071.7Genomic Context describing neighboring genes Neighboring gene vacuolar protein sorting 37D Neighboring gene STARR-seq mESC enhancer starr_14566 Neighboring gene MLX interacting protein-like Neighboring gene STARR-positive B cell enhancer ABC_E855 Neighboring gene STARR-positive B cell enhancer ABC_E280 Neighboring gene STARR-positive B cell enhancer ABC_E6386 Neighboring gene B cell CLL/lymphoma 7B Neighboring gene STARR-seq mESC enhancer starr_14571 Neighboring gene STARR-positive B cell enhancer ABC_E2767 Neighboring gene STARR-seq mESC enhancer starr_14572 Neighboring gene bromodomain adjacent to zinc finger domain, 1B

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. WBSCR14, a putative transcription factor gene deleted in Williams-Beuren syndrome: complete characterisation of the human gene and the mouse ortholog. de Luis O, et al. Eur J Hum Genet, 2000 Mar. PMID 10780788
    2. TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. Pérez Jurado LA, et al. Cytogenet Cell Genet, 1999. PMID 10575226
    3. Fine-scale comparative mapping of the human 7q11.23 region and the orthologous region on mouse chromosome 5G: the low-copy repeats that flank the Williams-Beuren syndrome deletion arose at breakpoint sites of an evolutionary inversion(s). Valero MC, et al. Genomics, 2000 Oct 1. PMID 11013070
    4. Generation and comparative analysis of approximately 3.3 Mb of mouse genomic sequence orthologous to the region of human chromosome 7q11.23 implicated in Williams syndrome. DeSilva U, et al. Genome Res, 2002 Jan. PMID 11779826, Free PMC Article
    5. Novel protein interactions with endoglin and activin receptor-like kinase 1: potential role in vascular networks. Xu G, et al. Mol Cell Proteomics, 2014 Feb. PMID 24319055, Free PMC Article

    See all (28) citations in PubMed

    GeneRIFs: Gene References Into Functions

    Variation

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    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Targeted (1)  1 citation
    • Endonuclease-mediated (3) 

    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 phosphoprotein binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables protein kinase binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    enables translation initiation factor binding ISO
    Inferred from Sequence Orthology
    more info
    		  
    Process Evidence Code Pubs
    involved_in cellular response to glucose starvation ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in cellular response to hypoxia ISO
    Inferred from Sequence Orthology
    more info
    		  
    involved_in endoplasmic reticulum unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum unfolded protein response ISO
    Inferred from Sequence Orthology
    more info
    		  
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum ISO
    Inferred from Sequence Orthology
    more info
    		  

    General protein information

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    Preferred Names
    transducin beta-like 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_001363307.1 → NP_001350236.1  transducin beta-like protein 2 isoform 2

      Status: VALIDATED

      Source sequence(s)
      AC024607
      Conserved Domains (2) summary
      sd00039
      Location:45 → 89
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:2 → 210
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. NM_013763.3 → NP_038791.2  transducin beta-like protein 2 isoform 1

      See identical proteins and their annotated locations for NP_038791.2

      Status: VALIDATED

      Source sequence(s)
      AC024607, AK047090, AK132366, BC048185, BE947541
      Consensus CDS
      CCDS19735.1
      UniProtKB/Swiss-Prot
      Q8CFY0, Q9R099
      UniProtKB/TrEMBL
      Q9CY49
      Related
      ENSMUSP00000115011.2, ENSMUST00000153183.8
      Conserved Domains (3) summary
      COG2319
      Location:82 → 394
      WD40; WD40 repeat [General function prediction only]
      sd00039
      Location:89 → 132
      7WD40; WD40 repeat [structural motif]
      cl02567
      Location:78 → 394
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    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
      135178288..135192727
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006504432.5 → XP_006504495.1  transducin beta-like protein 2 isoform X1

      UniProtKB/TrEMBL
      Q9CY49
      Conserved Domains (2) summary
      sd00039
      Location:60 → 103
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:49 → 365
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...

    2. XM_030254546.2 → XP_030110406.1  transducin beta-like protein 2 isoform X2

      Conserved Domains (2) summary
      sd00039
      Location:45 → 89
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:2 → 210
      WD40; WD40 domain, found in a number of eukaryotic proteins that cover a wide variety of functions including adaptor/regulatory modules in signal transduction, pre-mRNA processing and cytoskeleton assembly; typically contains a GH dipeptide 11-24 residues from ...
    Nucleotide Protein Strain
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9R099.2 GenPept UniProtKB/Swiss-Prot:Q9R099

    Gene LinkOut

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