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

Gene ID: 26608, updated on 7-Apr-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_2023_10 current GRCh38.p14 (GCF_000001405.40) 7 NC_000007.14 (73567537..73578579, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 7 NC_060931.1 (74768023..74779401, complement)
105.20220307 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
  • 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. 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
  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. 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
  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. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. Meng X, et al. Hum Genet, 1998 Nov. PMID 9860302

See all (114) 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 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_2023_10

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

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