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FLASH GENE
Symbol TBL2 contributors: mct - updated : 30-06-2015
HGNC name transducin (beta)-like 2
HGNC id 11586
Location 7q11.23      Physical location : 72.983.278 - 72.993.013
Synonym name
  • beta transducin-like 2
  • Williams-Beuren syndrome chromosome region 13
  • Synonym symbol(s) BTRP, WBSCR13, WS-BETATRP, MGC134739
    DNA
    TYPE functioning gene
    STRUCTURE 9.74 kb     7 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Physical map
    LOC389514 7 hypothetical gene supported by BC042156; BC051888; NM_018264 LOC389515 7 similar to Shwachman-Bodian-Diamond syndrome protein (CGI-97) POM121 7q11.23 POM121 membrane glycoprotein (rat) WBSCR20C 7q11.23 POM121 membrane glycoprotein (rat) TRIM50C 7 tripartite motif-containing 50C LOC389516 7 hypothetical gene supported by BC002581; NM_012447 LOC389517 7 similar to Williams Beuren syndrome chromosome region 19 GTF2IP1 7q11.23 general transcription factor II, i, pseudogene 1 LOC389518 7 similar to Neutrophil cytosolic factor 1 LOC389519 7 similar to transcription factor GTF2IRD2 LOC389520 7 similar to Nuclear envelope pore membrane protein POM 121 (Pore membrane protein of 121 kDa) (P145) WBSCR20A 7q11.23 Williams Beuren syndrome chromosome region 20A TRIM50A 7q11.23 tripartite motif-containing 50A FKBP6 7q11.23 FK506 binding protein 6, 36kDa FZD9 7q11.23 frizzled homolog 9 (Drosophila) BAZ1B 7q11.23 bromodomain adjacent to zinc finger domain, 1B BCL7B 7q11.23 B-cell CLL/lymphoma 7B TBL2 7q11.23 transducin (beta)-like 2 WBSCR14 7q11.23 Williams Beuren syndrome chromosome region 14 WBSCR24 7q11.23 Williams Beuren syndrome chromosome region 24 STX1A 7q11.23 syntaxin 1A (brain) WBSCR18 7q11.23 Williams Beuren syndrome chromosome region 18 WBSCR22 7q11.23 Williams Beuren syndrome chromosome region 22 WBSCR21 7q11.23 Williams Beuren syndrome chromosome region 21 CLDN3 7q11.23 claudin 3 CLDN4 7q11.23 claudin 4 WBSCR27 7q11.23 claudin 4 WBSCR28 7q11.23 Williams-Beuren syndrome critical region 28 ELN 7q11.23 elastin (supravalvular aortic stenosis, Williams-Beuren syndrome) LIMK1 7q11.23 LIM domain kinase 1 WBSCR1 7q11.23 Williams-Beuren syndrome chromosome region 1 WBSCR5 7q11.23 Williams-Beuren syndrome chromosome region 5 RFC2 7q11.23 replication factor C (activator 1) 2, 40kDa CYLN2 7q11.23 cytoplasmic linker 2 GTF2IRD1 7q11.23 GTF2I repeat domain containing 1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    7 splicing 3041 49.8 447 - 1999 10575226
    - - - 5000 - - ubiquitous low 1999 10575226
    - splicing 1300 - 75 ubiquitous low 1999 10575226
    exon 2'
    EXPRESSION
    Type ubiquitous
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart    
    Digestiveintestinesmall intestine  highly
    Endocrinepancreas    
    Nervousbrain    
    Reproductivefemale systemuteruscervix highly
     male systemtestis  highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac  
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period pregnancy
    Text placenta
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • N-terminal transmembrane region
  • four putative WD40 repeats, bipartite nuclear localization signal (NLS) and a consensus leucine zipper domain
  • C-terminal WD40 domain
  • HOMOLOGY
    interspecies ortholog to murine Tbl2
    Homologene
    FAMILY beta-transductin protein family
    CATEGORY regulatory , signaling
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,organelle,membrane
    intracellular,cytoplasm,organelle,endoplasmic reticulum
    intracellular,nucleus
    text TBL2 was predominantly mitochondrial
    basic FUNCTION intracellular signaling pathway
    CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • UBIAD1-TBL2 complex likely functions in oxidative/nitrosative stress, lipid metabolism
  • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interaction between UBIAD1 and TBL2 proteins (UBIAD1 was localized to both mitochondrial and non-mitochondrial membranes whereas TBL2 was predominantly mitochondrial)
  • serves as a potential regulator of the EIF2AK3 pathway
  • TBL2 interacts with PKR-like ER-resident kinase (EIF2AK3), and under ER stress, it mediates protein expression of activating transcription factor 4 (ATF4)
  • under ER stress, TBL2 participates in ATF4 translation through its association with the mRNA
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional germinal mutation      
    in Williams-Beuren syndrome with other genes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS