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Aliases for TBL2 Gene

Aliases for TBL2 Gene

  • Transducin (Beta)-Like 2 2 3
  • 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

External Ids for TBL2 Gene

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.

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

Genomic Location for TBL2 Gene

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for TBL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TBL2 Gene

Regulatory Elements for TBL2 Gene

Transcription factor binding sites by QIAGEN in the TBL2 gene promoter:

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

Proteomics data for TBL2 Gene at MOPED

Post-translational modifications for TBL2 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys120

No data available for DME Specific Peptides for TBL2 Gene

Domains for TBL2 Gene

Gene Families for TBL2 Gene

HGNC:
  • WDR :WD repeat domain containing

UniProtKB/Swiss-Prot:

TBL2_HUMAN
Similarity:
  • Contains 7 WD repeats.:
    • Q9Y4P3
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:0003674 molecular_function --
GO:0005515 protein binding --
GO:0019901 protein kinase binding IPI 25393282
GO:0031369 translation initiation factor binding IPI 25393282
GO:0044822 poly(A) RNA binding IDA 22658674
genes like me logo Genes that share ontologies with TBL2: view

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

Localization for TBL2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for TBL2 Gene COMPARTMENTS Subcellular localization image for TBL2 gene
Compartment Confidence
extracellular 2
cytosol 1
endoplasmic reticulum 1
mitochondrion 1
peroxisome 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for TBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component --
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

Pathways for TBL2 Gene

SuperPathways for TBL2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008150 biological_process --
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 for TBL2 Gene

Transcripts for TBL2 Gene

Unigene Clusters for TBL2 Gene

Transducin (beta)-like 2:
Representative Sequences:

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 for TBL2 Gene

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

This gene is overexpressed in Testis (9.0).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for TBL2 Gene

SOURCE GeneReport for Unigene cluster for TBL2 Gene Hs.647044

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

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 36
  • 99.48 (n)
  • 99.78 (a)
TBL2 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia TBL2 36
  • 88.34 (n)
  • 89.24 (a)
TBL2 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia TBL2 36
  • 88.34 (n)
  • 90.58 (a)
TBL2 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Tbl2 36
  • 84.99 (n)
  • 88.24 (a)
Tbl2 16
Tbl2 37
  • 88 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia TBL2 37
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBL2 37
  • 57 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tbl2 36
  • 85.37 (n)
  • 88.91 (a)
chicken
(Gallus gallus)
Aves TBL2 36
  • 72.34 (n)
  • 70.33 (a)
TBL2 37
  • 70 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia TBL2 37
  • 72 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia tbl2-prov 36
tropical clawed frog
(Silurana tropicalis)
Amphibia Str.437 36
tbl2 36
  • 66.67 (n)
  • 71.39 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4643 36
zebrafish
(Danio rerio)
Actinopterygii Dr.10417 36
tbl2 36
  • 66.27 (n)
  • 63.86 (a)
tbl2 37
  • 62 (a)
OneToMany
tbl2 37
  • 62 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea F46C5.9 36
  • 43.08 (n)
  • 31.07 (a)
F46C5.9 37
  • 27 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G00090 36
  • 42.68 (n)
  • 33.23 (a)
rice
(Oryza sativa)
Liliopsida Os03g0858400 36
  • 43.22 (n)
  • 29.34 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 46 (a)
OneToOne
Species with no ortholog for TBL2:
  • 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 MAF
rs2573 -- 73,569,890(+) CACTT(C/T)CATGA utr-variant-3-prime
rs14415 -- 73,570,450(-) ATGGC(A/G)CTGCT utr-variant-3-prime
rs886795 -- 73,569,326(-) CCCCT(C/G)ACCTC utr-variant-3-prime
rs2079480 -- 73,569,757(-) ATCTT(G/T)TTTAA utr-variant-3-prime
rs2079481 -- 73,569,562(-) ATATG(G/T)CAAGG utr-variant-3-prime

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

Variant ID Type Subtype PubMed ID
dgv7325n71 CNV Loss 21882294
nsv888369 CNV Loss 21882294
nsv831028 CNV Loss 17160897

Relevant External Links for TBL2 Gene

HapMap Linkage Disequilibrium report
TBL2

Disorders for TBL2 Gene

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.

(1) MalaCards Diseases for TBL2 Gene

Search for TBL2 Gene in MalaCards »

(1) University of Copenhagen DISEASES for TBL2 Gene

Relevant External Links for TBL2

Genetic Association Database (GAD)
TBL2
Human Genome Epidemiology (HuGE) Navigator
TBL2
genes like me logo Genes that share disorders with TBL2: view

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 23
  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
  3. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 3 4
  4. Newly identified loci that influence lipid concentrations and risk of coronary artery disease. (PMID: 18193043) Willer C.J. … Abecasis G.R. (Nat. Genet. 2008) 3 49
  5. Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. (PMID: 18193044) Kathiresan S. … Orho-Melander M. (Nat. Genet. 2008) 3 49

Products for TBL2 Gene

Sources for TBL2 Gene

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