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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. Gene Ontology (GO) annotations related to this gene include phosphoprotein binding.

Additional gene information for TBL2 Gene

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

Genomics for TBL2 Gene

GeneHancer (GH) Regulatory Elements for TBL2 Gene

Promoters and enhancers for TBL2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH07I073575 Promoter/Enhancer 2 EPDnew Ensembl ENCODE 576.9 +1.0 957 4 HDGF SMAD1 ATF1 SIN3A ZNF48 YY1 ZNF280A ZNF121 POLR2B ZNF766 TBL2 MLXIPL BCL7B POM121B RFC2 NSUN5P2 POM121 ABHD11-AS1 PIR55446 GC07M073571
GH07I072827 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 38.4 +749.4 749385 4.4 HDGF PKNOX1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF766 TYW1B SBDSP1 PIR36920 STAG3L3 POM121B TBL2 POM121 FKBP6 NSUN5P2 BUD23
GH07I073518 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 29.4 +57.8 57771 4.5 HDGF PKNOX1 CLOCK SMAD1 ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 BAZ1B TBL2 POM121B STAG3L3 POM121 FKBP6 MIR590 BUD23 MLXIPL NSUN5P2
GH07I073715 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 17.4 -138.8 -138763 4.9 CLOCK SMAD1 FOXA2 ARNT ZFP64 ARID4B NEUROD1 SIN3A FEZF1 ZNF766 STX1A POM121B POM121 TBL2 STAG3L3 NSUN5P2 MIR590 NSUN5 PMS2P7 RFC2
GH07I073736 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 12.9 -161.9 -161934 7.8 CLOCK ZFP64 DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 ZNF610 GLIS1 ABHD11 GC07P073741 GC07P073742 METTL27 ABHD11-AS1 POM121B POM121 STAG3L3 NSUN5P2 TBL2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around TBL2 on UCSC Golden Path with GeneCards custom track

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

Genomic Locations for TBL2 Gene

Genomic Locations for TBL2 Gene
chr7:73,568,932-73,578,791
(GRCh38/hg38)
Size:
9,860 bases
Orientation:
Minus strand
chr7:72,983,262-72,993,121
(GRCh37/hg19)

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

No data available for DME Specific Peptides for TBL2 Gene

Domains & Families for TBL2 Gene

Gene Families for TBL2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted secreted proteins

Suggested Antigen Peptide Sequences for TBL2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

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

No data available for UniProtKB/Swiss-Prot for TBL2 Gene

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

Phenotypes From GWAS Catalog for TBL2 Gene

Gene Ontology (GO) - Molecular Function for TBL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding HDA 22658674
GO:0019901 protein kinase binding IPI 25393282
GO:0031369 translation initiation factor binding IPI 25393282
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

Inhibitory RNA 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

Subcellular locations from the

Human Protein Atlas (HPA)

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

Drugs & Compounds for TBL2 Gene

No Compound Related Data Available

Transcripts for TBL2 Gene

Unigene Clusters for TBL2 Gene

Transducin (beta)-like 2:
Representative Sequences:

Inhibitory RNA 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 CGAP 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

Evidence on tissue expression from TISSUES for TBL2 Gene

  • Liver(4.3)
  • Nervous system(4.2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TBL2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • larynx
  • lip
  • mandible
  • maxilla
  • middle ear
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tongue
  • tooth
  • vocal cord
Thorax:
  • aorta
  • chest wall
  • clavicle
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • duodenum
  • intestine
  • kidney
  • large intestine
  • pancreas
  • small intestine
  • stomach
Pelvis:
  • anus
  • pelvis
  • rectum
  • ureter
  • urethra
  • urinary bladder
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with TBL2: view

Primer Products

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 33 34
  • 99.48 (n)
cow
(Bos Taurus)
Mammalia TBL2 33 34
  • 88.34 (n)
dog
(Canis familiaris)
Mammalia TBL2 33 34
  • 88.34 (n)
rat
(Rattus norvegicus)
Mammalia Tbl2 33
  • 85.37 (n)
mouse
(Mus musculus)
Mammalia Tbl2 33 16 34
  • 84.99 (n)
oppossum
(Monodelphis domestica)
Mammalia TBL2 34
  • 68 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia TBL2 34
  • 57 (a)
OneToOne
chicken
(Gallus gallus)
Aves TBL2 33 34
  • 72.34 (n)
lizard
(Anolis carolinensis)
Reptilia TBL2 34
  • 72 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia tbl2 33
  • 66.67 (n)
Str.437 33
African clawed frog
(Xenopus laevis)
Amphibia tbl2-prov 33
zebrafish
(Danio rerio)
Actinopterygii tbl2 33 34 34
  • 66.27 (n)
Dr.10417 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4643 33
worm
(Caenorhabditis elegans)
Secernentea F46C5.9 33 34
  • 43.08 (n)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G00090 33
  • 42.68 (n)
rice
(Oryza sativa)
Liliopsida Os03g0858400 33
  • 43.22 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1000106010 -- 73,578,331(-) A/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1000218636 -- 73,573,602(-) C/A intron_variant
rs1000695936 -- 73,568,967(-) T/C 3_prime_UTR_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000728026 -- 73,569,316(-) A/G 3_prime_UTR_variant, downstream_transcript_variant, genic_downstream_transcript_variant, non_coding_transcript_variant
rs1000959699 -- 73,575,098(-) C/T intron_variant

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

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

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)

Additional Variant Information 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
  • wbs
- 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.

Additional Disease Information for TBL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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) Pérez Jurado LA … Cruces J (Cytogenetics and cell genetics 1999) 2 3 4 22 58
  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 MT (Human genetics 1998) 2 3 4 58
  3. Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. (PMID: 21909109) Kim YJ … Cho YS (Nature genetics 2011) 3 44 58
  4. Fine-mapping in African Americans of 8 recently discovered genetic loci for plasma lipids: the Jackson Heart Study. (PMID: 20570916) Keebler ME … Kathiresan S (Circulation. Cardiovascular genetics 2010) 3 44 58
  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 PW (Diabetologia 2010) 3 44 58

Products for TBL2 Gene

Sources for TBL2 Gene

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