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

Gene ID: 26608, updated on 3-May-2020

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

Genomic context

See TBL2 in Genome Data Viewer
Location:
7q11.23
Exon count:
9
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 7 NC_000007.14 (73567537..73578605, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 7 NC_000007.13 (72983274..72993013, 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 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

NHGRI GWAS Catalog

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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC134739, DKFZp434N024

Gene Ontology Provided by GOA

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

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)

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]
    cl25539
    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]
    cl25539
    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]
    cl25539
    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]
    cl25539
    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.

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]
    cl25539
    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]
    cl25539
    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]
    cl25539
    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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