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

    Gene ID: 26608, updated on 3-Nov-2024

    Summary

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    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; AllianceGenome:HGNC:11586
    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
    mouse all
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    Genomic context

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    See TBL2 in Genome Data Viewer
    Location:
    7q11.23
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73567537..73578579, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74768023..74779401, complement)
    RS_2024_09 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 H3K27ac hESC enhancer GRCh37_chr7:72930153-72930652 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18248 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26123 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18249 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26124 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18250 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18251 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18252 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18253 Neighboring gene BAF chromatin remodeling complex subunit BCL7B Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18254 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 26125 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73001900-73002400 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73002401-73002901 Neighboring gene Sharpr-MPRA regulatory region 5103 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73017160-73017696 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73021869-73022452 Neighboring gene MLX interacting protein like Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr7:73049903-73050752 Neighboring gene Sharpr-MPRA regulatory region 8994 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18255 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18256 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18257 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 18259 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr7:73082323-73083318 Neighboring gene VPS37D subunit of ESCRT-I

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues 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

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    Related articles in PubMed

    1. Transducin Beta-Like 2 is a Potential Driver Gene that Adapts to Endoplasmic Reticulum Stress to Promote Tumor Growth of Lung Adenocarcinoma. Kosai K, et al. Ann Surg Oncol, 2023 Nov. PMID 37477745
    2. Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11.23. Antonell A, et al. Genome Res, 2005 Sep. PMID 16140988, Free PMC Article
    3. TBL2 methylation is associated with hyper-low-density lipoprotein cholesterolemia: a case-control study. Li Y, et al. Lipids Health Dis, 2020 Aug 18. PMID 32811528, Free PMC Article
    4. The TERE1 protein interacts with mitochondrial TBL2: regulation of trans-membrane potential, ROS/RNS and SXR target genes. Fredericks WJ, et al. J Cell Biochem, 2013 Sep. PMID 23564352
    5. The endoplasmic reticulum-localized protein TBL2 interacts with the 60S ribosomal subunit. Tsukumo Y, et al. Biochem Biophys Res Commun, 2015 Jul 10. PMID 25976671

    See all (130) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transducin Beta-Like 2 is a Potential Driver Gene that Adapts to Endoplasmic Reticulum Stress to Promote Tumor Growth of Lung Adenocarcinoma.
      Title: Transducin Beta-Like 2 is a Potential Driver Gene that Adapts to Endoplasmic Reticulum Stress to Promote Tumor Growth of Lung Adenocarcinoma.
    2. TBL2 methylation is associated with hyper-low-density lipoprotein cholesterolemia: a case-control study.
      Title: TBL2 methylation is associated with hyper-low-density lipoprotein cholesterolemia: a case-control study.
    3. TBL2 participates in ATF4 translation through its association with the mRNA.
      Title: TBL2 Associates With ATF4 mRNA Via Its WD40 Domain and Regulates Its Translation During ER Stress.
    4. association of TBL2 with the 60S subunit was ER stress independent while the TBL2-PERK interaction occurred upon ER stress
      Title: The endoplasmic reticulum-localized protein TBL2 interacts with the 60S ribosomal subunit.
    5. TBL2 interacts with PERK via the N-terminus proximal region and also associates with eIF2a via the WD40 domain thus modulating stress-signaling and cell survival during endoplasmic reticulum stress.
      Title: TBL2 is a novel PERK-binding protein that modulates stress-signaling and cell survival during endoplasmic reticulum stress.
    6. A TERE1-TBL2 complex likely functions in oxidative/nitrosative stress, lipid metabolism, and SXR signaling pathways in its role as a tumor suppressor.
      Title: The TERE1 protein interacts with mitochondrial TBL2: regulation of trans-membrane potential, ROS/RNS and SXR target genes.
    7. Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
      Title: Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population.
    8. Data show that SNPs associated with TG in normolipidemic samples, including APOA5, TRIB1, TBL2, GCKR, GALNT2 and ANGPTL3 were significantly associated with HLP types 2B, 3, 4 and 5.
      Title: A polygenic basis for four classical Fredrickson hyperlipoproteinemia phenotypes that are characterized by hypertriglyceridemia.
    9. Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
      Title: Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
    10. Observational study of gene-disease association. (HuGE Navigator)
      Title: Genetic loci associated with lipid concentrations and cardiovascular risk factors in the Korean population.
    Submit: New GeneRIF Correction See all GeneRIFs (11)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Biological, clinical and population relevance of 95 loci for blood lipids.
    EBI GWAS Catalog
    Discovery and refinement of loci associated with lipid levels.
    EBI GWAS Catalog
    Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
    EBI GWAS Catalog
    Genome-wide meta-analysis identifies six novel loci associated with habitual coffee consumption.
    EBI GWAS Catalog
    Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.
    EBI GWAS Catalog
    Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
    EBI GWAS Catalog
    Newly identified loci that influence lipid concentrations and risk of coronary artery disease.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog
    Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC134739, DKFZp434N024

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables RNA binding HDA PubMed 
    enables phosphoprotein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein kinase binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables translation initiation factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in cellular response to glucose starvation IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in cellular response to hypoxia IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in endoplasmic reticulum unfolded protein response IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in endoplasmic reticulum unfolded protein response IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Component Evidence Code Pubs
    is_active_in endoplasmic reticulum IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in endoplasmic reticulum membrane NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    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)

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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.

    Genomic

    1. NG_023281.1 RefSeqGene

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

    mRNA and Protein(s)

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

      Status: REVIEWED

      Source sequence(s)
      AC005089, BC006308, BQ025092, BX376493, BX401268, DB460708
      UniProtKB/TrEMBL
      B4DY50
      Conserved Domains (2) summary
      sd00039
      Location:61 → 102
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:49 → 366
      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_001362661.2 → NP_001349590.1  transducin beta-like protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005089, BC006308, BQ025092, BX401268
      UniProtKB/TrEMBL
      B4DY59
      Conserved Domains (2) summary
      sd00039
      Location:28 → 62
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:20 → 253
      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_001362662.2 → NP_001349591.1  transducin beta-like protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005089, BC006308, BQ025092, BX401268, DB460708
      UniProtKB/TrEMBL
      B4DY59
      Conserved Domains (2) summary
      sd00039
      Location:28 → 62
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:20 → 253
      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_001362663.2 → NP_001349592.1  transducin beta-like protein 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC005089, AK302265, BC006308, BQ025092, BX401268, DB460708
      UniProtKB/TrEMBL
      B4DY59
      Conserved Domains (2) summary
      sd00039
      Location:28 → 62
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:20 → 253
      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_012453.4 → NP_036585.1  transducin beta-like protein 2 isoform 1

      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
      Q9UQE2, Q9Y4P3
      UniProtKB/TrEMBL
      A0A0S2Z5F3, A0A384MDS4, B2RB52, Q8N2L6
      Related
      ENSP00000307260.4, ENST00000305632.11
      Conserved Domains (2) summary
      sd00039
      Location:94 → 136
      7WD40; WD40 repeat [structural motif]
      cl25539
      Location:82 → 399
      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_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_000007.14 Reference GRCh38.p14 Primary Assembly

      Range
      73567537..73578579 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006715923.5 → XP_006715986.1  transducin beta-like protein 2 isoform X1

      See identical proteins and their annotated locations for XP_006715986.1

      UniProtKB/TrEMBL
      B4DY50
      Conserved Domains (2) summary
      sd00039
      Location:61 → 102
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:49 → 366
      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_047420186.1 → XP_047276142.1  transducin beta-like protein 2 isoform X2

      UniProtKB/TrEMBL
      E9PF19
      Related
      ENSP00000413979.1, ENST00000432538.5

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

      UniProtKB/TrEMBL
      B4DY50
      Conserved Domains (2) summary
      sd00039
      Location:61 → 102
      7WD40; WD40 repeat [structural motif]
      cl29593
      Location:49 → 366
      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. XM_047420188.1 → XP_047276144.1  transducin beta-like protein 2 isoform X3

    5. XM_047420185.1 → XP_047276141.1  transducin beta-like protein 2 isoform X1

    6. XM_047420187.1 → XP_047276143.1  transducin beta-like protein 2 isoform X3

    7. XM_047420189.1 → XP_047276145.1  transducin beta-like protein 2 isoform X4

      Related
      ENST00000452475.5

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060931.1 Alternate T2T-CHM13v2.0

      Range
      74768023..74779401 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054357867.1 → XP_054213842.1  transducin beta-like protein 2 isoform X1

    2. XM_054357866.1 → XP_054213841.1  transducin beta-like protein 2 isoform X1

    3. XM_054357869.1 → XP_054213844.1  transducin beta-like protein 2 isoform X2

      UniProtKB/TrEMBL
      E9PF19

    4. XM_054357868.1 → XP_054213843.1  transducin beta-like protein 2 isoform X1

    5. XM_054357870.1 → XP_054213845.1  transducin beta-like protein 2 isoform X3

    6. XM_054357871.1 → XP_054213846.1  transducin beta-like protein 2 isoform X4

    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.
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9Y4P3.1 GenPept UniProtKB/Swiss-Prot:Q9Y4P3

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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