• Gene id: 26608

Gene Summary

• Gene Symbol: TBL2   Gene   UCSC   Ensembl
• Aliases: WBSCR13, WS-betaTRP
• Gene name: transducin beta like 2
• Alternate names: transducin beta-like protein 2, WS beta-transducin repeats protein, Williams-Beuren syndrome chromosome region 13, epididymis secretory sperm binding protein, transducin -like 2,
• Gene location: 7q11.23 (73578604: 73567536)     Exons: 9     NC_000007.14
• Gene summary(Entrez): 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
• OMIM: 605842

Protein Summary

• Protein general information: Q9Y4P3  
  • Name: Transducin beta like protein 2 (WS beta transducin repeats protein) (WS betaTRP) (Williams Beuren syndrome chromosomal region 13 protein)
  • Length: 447  
  • Mass: 49798
• Sequence:

  MELSQMSELMGLSVLLGLLALMATAAVARGWLRAGEERSGRPACQKANGFPPDKSSGSKKQKQYQRIRKEKPQQH
  NFTHRLLAAALKSHSGNISCMDFSSNGKYLATCADDRTIRIWSTKDFLQREHRSMRANVELDHATLVRFSPDCRA
  FIVWLANGDTLRVFKMTKREDGGYTFTATPEDFPKKHKAPVIDIGIANTGKFIMTASSDTTVLIWSLKGQVLSTI
  NTNQMNNTHAAVSPCGRFVASCGFTPDVKVWEVCFGKKGEFQEVVRAFELKGHSAAVHSFAFSNDSRRMASVSKD
  GTWKLWDTDVEYKKKQDPYLLKTGRFEEAAGAAPCRLALSPNAQVLALASGSSIHLYNTRRGEKEECFERVHGEC
  IANLSFDITGRFLASCGDRAVRLFHNTPGHRAMVEEMQGHLKRASNESTRQRLQQQLTQAQETLKSLGALKK

• Structural information:
  • Interpro: IPR020472  IPR042410  IPR015943  IPR001680  IPR019775   IPR017986  IPR036322  
  • Prosite: PS00678 PS50082 PS50294
  • STRING: ENSP00000307260
• Other Databases: GeneCards:  TBL2  Malacards:  TBL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0051219	phosphoprotein binding	IDA	molecular function
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0031369	translation initiation factor binding	IPI	molecular function
GO:0030176	integral component of endoplasmic reticulum membrane	NAS	cellular component
GO:0019901	protein kinase binding	IPI	molecular function
GO:0042149	cellular response to glucose starvation	IMP	biological process
GO:0071456	cellular response to hypoxia	IMP	biological process
GO:0030968	endoplasmic reticulum unfolded protein response	IMP	biological process
GO:0003723	RNA binding	HDA	molecular function

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray