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    TBL2 transducin beta like 2 [ Homo sapiens (human) ]

    Gene ID: 26608, updated on 4-Jul-2021

    Summary

    Official Symbol
    TBL2provided by HGNC
    Official Full Name
    transducin beta like 2provided by HGNC
    Primary source
    HGNC:HGNC:11586
    See related
    Ensembl:ENSG00000106638 MIM:605842
    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
    WBSCR13; WS-betaTRP
    Summary
    This gene encodes a member of the beta-transducin protein family. Most proteins of the beta-transducin family are involved in regulatory functions. This protein is possibly involved in some intracellular signaling pathway. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]
    Expression
    Broad expression in testis (RPKM 54.0), thyroid (RPKM 6.5) and 21 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TBL2 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    109.20210514 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (73567537..73578605, complement)
    105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72981867..72992909, complement)

    Chromosome 7 - NC_000007.14Genomic Context describing neighboring genes Neighboring gene bromodomain adjacent to zinc finger domain 1B Neighboring gene RNA, U6 small nuclear 1198, pseudogene Neighboring gene BAF chromatin remodeling complex subunit BCL7B Neighboring gene Sharpr-MPRA regulatory region 11638 Neighboring gene MLX interacting protein like Neighboring gene Sharpr-MPRA regulatory region 8994

    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?

    Phenotypes

    Associated conditions

    Description Tests
    Biological, clinical and population relevance of 95 loci for blood lipids.
    GeneReviews: Not available
    Discovery and refinement of loci associated with lipid levels.
    GeneReviews: Not available
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    GeneReviews: Not available
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
    GeneReviews: Not available
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    GeneReviews: Not available
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    GeneReviews: Not available
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    GeneReviews: Not available
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    GeneReviews: Not available
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    GeneReviews: Not available

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • MGC134739, DKFZp434N024

    General protein information

    Preferred Names
    transducin beta-like protein 2
    Names
    WS beta-transducin repeats protein
    Williams-Beuren syndrome chromosome region 13
    epididymis secretory sperm binding protein
    transducin -like 2

    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_023281.1 RefSeqGene

      Range
      5105..16147
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001362660.2NP_001349589.1  transducin beta-like protein 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC005089, BC006308, BQ025092, BX376493, BX401268, DB460708
      Conserved Domains (2) summary
      sd00039
      Location:61102
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:49366
      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_001362661.2NP_001349590.1  transducin beta-like protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005089, BC006308, BQ025092, BX401268
      Conserved Domains (2) summary
      sd00039
      Location:2862
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:20253
      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 ...
    3. NM_001362662.2NP_001349591.1  transducin beta-like protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005089, BC006308, BQ025092, BX401268, DB460708
      Conserved Domains (2) summary
      sd00039
      Location:2862
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:20253
      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 ...
    4. NM_001362663.2NP_001349592.1  transducin beta-like protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005089, AK302265, BC006308, BQ025092, BX401268, DB460708
      Conserved Domains (2) summary
      sd00039
      Location:2862
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:20253
      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 ...
    5. NM_012453.4NP_036585.1  transducin beta-like protein 2 isoform 1 precursor

      See identical proteins and their annotated locations for NP_036585.1

      Status: REVIEWED

      Source sequence(s)
      AC005089, AL080162, BQ025092
      Consensus CDS
      CCDS5551.1
      UniProtKB/Swiss-Prot
      Q9Y4P3
      Related
      ENSP00000307260.4, ENST00000305632.11
      Conserved Domains (2) summary
      sd00039
      Location:94136
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:82399
      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: Homo sapiens Updated Annotation Release 109.20210514

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

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000007.14 Reference GRCh38.p13 Primary Assembly

      Range
      73567537..73578605 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024446709.1XP_024302477.1  transducin beta-like protein 2 isoform X1

      Related
      ENSP00000413979.1, ENST00000432538.5
      Conserved Domains (2) summary
      sd00039
      Location:61102
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:49366
      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_024446712.1XP_024302480.1  transducin beta-like protein 2 isoform X2

      Conserved Domains (2) summary
      sd00039
      Location:2862
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:20253
      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 ...
    3. XM_006715923.4XP_006715986.1  transducin beta-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006715986.1

      Conserved Domains (2) summary
      sd00039
      Location:61102
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:49366
      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 ...

    RNA

    1. XR_001744627.2 RNA Sequence

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_032988.1: Suppressed sequence

      Description
      NM_032988.1: This RefSeq was permanently suppressed because it is a nonsense-mediated mRNA decay (NMD) candidate.
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