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Aliases for TBL2 Gene

Aliases for TBL2 Gene

  • Transducin Beta Like 2 2 3 5
  • Williams-Beuren Syndrome Chromosome Region 13 2 3
  • WS Beta-Transducin Repeats Protein 3 4
  • WS-BetaTRP 3 4
  • WBSCR13 3 4
  • Williams-Beuren Syndrome Chromosomal Region 13 Protein 4
  • Transducin Beta-Like Protein 2 3
  • Transducin (Beta)-Like 2 2
  • Transducin -Like 2 3

External Ids for TBL2 Gene

Previous GeneCards Identifiers for TBL2 Gene

  • GC07M071624
  • GC07M072382
  • GC07M072396
  • GC07M072428
  • GC07M072621
  • GC07M072983
  • GC07M068865

Summaries for TBL2 Gene

Entrez Gene Summary for TBL2 Gene

  • 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]

GeneCards Summary for TBL2 Gene

TBL2 (Transducin Beta Like 2) is a Protein Coding gene. Diseases associated with TBL2 include Williams-Beuren Syndrome. GO annotations related to this gene include poly(A) RNA binding and phosphoprotein binding.

No data available for UniProtKB/Swiss-Prot , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TBL2 Gene

Genomics for TBL2 Gene

Regulatory Elements for TBL2 Gene

Enhancers for TBL2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH07F073524 1.4 FANTOM5 Ensembl ENCODE 24.2 +52.4 52391 3.6 BCOR TBP ZMYM3 ZNF121 ZNF316 POLR2A EED TRIM24 NR2F6 SMARCA5 TBL2 MLXIPL BCL7B NSUN5P2 BAZ1B GC07P073525 GC07P073532
GH07F073575 1 ENCODE 26.9 +1.0 957 4.0 HDGF CREB3L1 SIN3A ZNF48 ZNF121 GLIS2 ZNF207 SP3 SP5 GTF2B TBL2 MLXIPL BCL7B POM121B RFC2 ABHD11-AS1 POM121 MIR590 GC07M073571 PIR55446
GH07F073597 0.8 Ensembl 28.4 -21.1 -21145 4.6 YBX3 CBX3 MAX PLRG1 CDC5L ZNF121 ZFHX2 ZNF366 POLR2A SCRT2 TBL2 MLXIPL BAZ1B BCL7B VPS37D DNAJC30 WBSCR22 SBDSP1 GC07P073590 ENSG00000274080
GH07F073518 1.1 ENCODE 15.3 +57.8 57772 4.5 HDGF PKNOX1 CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 BAZ1B GTF2IRD2P1 TBL2 MLXIPL BCL7B POM121B POM121 MIR590 ENSG00000232415 GTF2IRD1
GH07F073612 1.4 Ensembl ENCODE 12 -34.7 -34696 2.6 PKNOX1 ARNT MLX ARID4B SIN3A FEZF1 DMAP1 YY1 PAF1 ZNF263 WBSCR22 MIR590 POM121 POM121B BCL7B STX1A GTF2IRD2P1 VPS37D DNAJC30 TBL2
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around TBL2 on UCSC Golden Path with GeneCards custom track

Promoters for TBL2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000067251 391 2001 HDGF CREB3L1 SIN3A ZNF48 ZNF121 GLIS2 ZNF207 SP3 SP5 GTF2B

Genomic Location for TBL2 Gene

Chromosome:
7
Start:
73,568,932 bp from pter
End:
73,578,791 bp from pter
Size:
9,860 bases
Orientation:
Minus strand

Genomic View for TBL2 Gene

Genes around TBL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TBL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TBL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBL2 Gene

Proteins for TBL2 Gene

  • Protein details for TBL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9Y4P3-TBL2_HUMAN
    Recommended name:
    Transducin beta-like protein 2
    Protein Accession:
    Q9Y4P3
    Secondary Accessions:
    • Q9UQE2

    Protein attributes for TBL2 Gene

    Size:
    447 amino acids
    Molecular mass:
    49798 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAD28083.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for TBL2 Gene

Post-translational modifications for TBL2 Gene

  • Ubiquitination at Lys 120
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for TBL2 Gene

Domains & Families for TBL2 Gene

Gene Families for TBL2 Gene

Suggested Antigen Peptide Sequences for TBL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9Y4P3

UniProtKB/Swiss-Prot:

TBL2_HUMAN :
  • Contains 7 WD repeats.
Similarity:
  • Contains 7 WD repeats.
genes like me logo Genes that share domains with TBL2: view

Function for TBL2 Gene

Molecular function for TBL2 Gene

GENATLAS Biochemistry:
transducin (beta)-like 2,expressed in heart,brain,placenta,testis,skeletal muscle and pancreas,located in the Williams commonly deleted region

Gene Ontology (GO) - Molecular Function for TBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0019901 protein kinase binding IPI 25393282
GO:0031369 translation initiation factor binding IPI 25393282
GO:0044822 poly(A) RNA binding IDA 22658674
GO:0051219 phosphoprotein binding IDA 25393282
genes like me logo Genes that share ontologies with TBL2: view

Phenotypes for TBL2 Gene

genes like me logo Genes that share phenotypes with TBL2: view

Human Phenotype Ontology for TBL2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TBL2

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TBL2 Gene

Localization for TBL2 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TBL2 gene
Compartment Confidence
endoplasmic reticulum 5
cytosol 3
extracellular 2
mitochondrion 2
plasma membrane 1
peroxisome 1

Gene Ontology (GO) - Cellular Components for TBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 25393282
GO:0030176 integral component of endoplasmic reticulum membrane NAS 25393282
genes like me logo Genes that share ontologies with TBL2: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for TBL2 Gene

Pathways & Interactions for TBL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0030968 endoplasmic reticulum unfolded protein response IMP 25393282
GO:0042149 cellular response to glucose starvation IMP 25393282
GO:0071456 cellular response to hypoxia IMP 25393282
genes like me logo Genes that share ontologies with TBL2: view

No data available for Pathways by source and SIGNOR curated interactions for TBL2 Gene

Transcripts for TBL2 Gene

Unigene Clusters for TBL2 Gene

Transducin (beta)-like 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for TBL2 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f · 1g · 1h · 1i · 1j ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b · 5c · 5d ^ 6a · 6b · 6c · 6d · 6e ^ 7 ^ 8 ^ 9 ^
SP1: - - - - - - - - - - -
SP2: - - - - - - - - - - - - -
SP3: - - - - - - - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - - - -
SP6: - - -
SP7: - - - - - - - - - -
SP8: - - - - - -
SP9: - - - - - - - - - - - - - - - - -
SP10: - - - - - - - - - - - - - - - - -
SP11: - - - - - - - - -
SP12: - - - - - -
SP13: - - - - -
SP14: - - - - - - - -
SP15: - - - -
SP16: - - -
SP17:
SP18:

ExUns: 10a · 10b · 10c ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13a · 13b
SP1: - - - -
SP2: - - - -
SP3: - - - -
SP4:
SP5: - - - - -
SP6:
SP7:
SP8:
SP9: - - - -
SP10: - - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16:
SP17:
SP18:

Relevant External Links for TBL2 Gene

GeneLoc Exon Structure for
TBL2
ECgene alternative splicing isoforms for
TBL2

Expression for TBL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TBL2 Gene

mRNA differential expression in normal tissues according to GTEx for TBL2 Gene

This gene is overexpressed in Testis (x9.0).

Protein differential expression in normal tissues from HIPED for TBL2 Gene

This gene is overexpressed in Nasal epithelium (20.7) and Islet of Langerhans (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for TBL2 Gene



Protein tissue co-expression partners for TBL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TBL2 Gene:

TBL2

SOURCE GeneReport for Unigene cluster for TBL2 Gene:

Hs.647044
genes like me logo Genes that share expression patterns with TBL2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for TBL2 Gene

Orthologs for TBL2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for TBL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TBL2 34 35
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia TBL2 34 35
  • 88.34 (n)
dog
(Canis familiaris)
Mammalia TBL2 34 35
  • 88.34 (n)
rat
(Rattus norvegicus)
Mammalia Tbl2 34
  • 85.37 (n)
mouse
(Mus musculus)
Mammalia Tbl2 34 16 35
  • 84.99 (n)
oppossum
(Monodelphis domestica)
Mammalia TBL2 35
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBL2 35
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBL2 34 35
  • 72.34 (n)
lizard
(Anolis carolinensis)
Reptilia TBL2 35
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbl2 34
  • 66.67 (n)
Str.437 34
African clawed frog
(Xenopus laevis)
Amphibia tbl2-prov 34
zebrafish
(Danio rerio)
Actinopterygii tbl2 34 35 35
  • 66.27 (n)
Dr.10417 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4643 34
worm
(Caenorhabditis elegans)
Secernentea F46C5.9 34 35
  • 43.08 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G00090 34
  • 42.68 (n)
rice
(Oryza sativa)
Liliopsida Os03g0858400 34
  • 43.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 46 (a)
OneToOne
Species where no ortholog for TBL2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for TBL2 Gene

ENSEMBL:
Gene Tree for TBL2 (if available)
TreeFam:
Gene Tree for TBL2 (if available)

Paralogs for TBL2 Gene

genes like me logo Genes that share paralogs with TBL2: view

No data available for Paralogs for TBL2 Gene

Variants for TBL2 Gene

Sequence variations from dbSNP and Humsavar for TBL2 Gene

SNP ID Clin Chr 07 pos Sequence Context AA Info Type
rs10225949 -- 73,578,424(+) CAGGC(G/T)GGCCG nc-transcript-variant, upstream-variant-2KB, reference, synonymous-codon, utr-variant-5-prime
rs111429190 -- 73,571,759(+) TGTCT(C/T)AGAAA intron-variant, nc-transcript-variant
rs111479470 -- 73,575,843(+) GTTCG(A/C)GACCA intron-variant
rs111605586 -- 73,579,954(+) TCAAG(A/C)GATTC upstream-variant-2KB
rs111680567 -- 73,573,238(+) TTTCA(A/G)GCAGC intron-variant

Structural Variations from Database of Genomic Variants (DGV) for TBL2 Gene

Variant ID Type Subtype PubMed ID
nsv831028 CNV loss 17160897
nsv1023520 CNV gain 25217958
dgv6467n100 CNV gain 25217958

Variation tolerance for TBL2 Gene

Residual Variation Intolerance Score: 21% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.05; 60.60% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for TBL2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
TBL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TBL2 Gene

Disorders for TBL2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for TBL2 Gene - From: Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
williams-beuren syndrome
  • fanconi schlesinger syndrome
- elite association - COSMIC cancer census association via MalaCards
Search TBL2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

TBL2_HUMAN
  • Note=TBL2 is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of TBL2 may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Relevant External Links for TBL2

Genetic Association Database (GAD)
TBL2
Human Genome Epidemiology (HuGE) Navigator
TBL2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TBL2
genes like me logo Genes that share disorders with TBL2: view

No data available for Genatlas for TBL2 Gene

Publications for TBL2 Gene

  1. TBL2, a novel transducin family member in the WBS deletion: characterization of the complete sequence, genomic structure, transcriptional variants and the mouse ortholog. (PMID: 10575226) Perez Jurado L.A. … Cruces J. (Cytogenet. Cell Genet. 1999) 2 3 4 22 64
  2. Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes. (PMID: 9860302) Meng X. … Keating M.T. (Hum. Genet. 1998) 2 3 4 64
  3. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (PMID: 21909109) Kim Y.J. … Cho Y.S. (Nat. Genet. 2011) 3 46 64
  4. Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart Study. (PMID: 20570916) Keebler M.E. … Kathiresan S. (Circ Cardiovasc Genet 2010) 3 46 64
  5. Evaluating the discriminative power of multi-trait genetic risk scores for type 2 diabetes in a northern Swedish population. (PMID: 20571754) Fontaine-Bisson B. … Franks P.W. (Diabetologia 2010) 3 46 64

Products for TBL2 Gene

Sources for TBL2 Gene

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