• Gene id: 254272

Gene Summary

• Gene Symbol: TBC1D28   Gene   UCSC   Ensembl
• Gene name: TBC1 domain family member 28
• Alternate names: TBC1 domain family member 28,
• Gene location: 17p11.2 (18644430: 18634433)     Exons: 14     NC_000017.11
• OMIM: 0

Protein Summary

• Protein general information: Q2M2D7  
  • Name: TBC1 domain family member 28
  • Length: 210  
  • Mass: 24072
• Sequence:

  MEMDEDPDNLPAQGQGNIIITKYEQGHRAGAAVDLGHEQVDVRKYTNNLGIVHEMELPRVSALEVKQRRKESKRT
  NKWQKMLADWTKYRSTKKLSQRVCKVIPLAVRGRALSLLLDIDKIKSQNPGKYKVMKEKGKRSSRIIHCIQLDVS
  HTLQKHMMFIQRFGVKQQELCDILVAYSAYNPVSIPGQRYSWYLCPYSQAWVSLGGVATS

• Structural information:
  • Protein Domains: (101..21-)
    (/note="Rab-GAP-TBC")
  • Interpro: IPR000195  IPR035969  
  • STRING: ENSP00000339973
• Other Databases: GeneCards:  TBC1D28  Malacards:  TBC1D28

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0090630	activation of GTPase activity	IBA	biological process

Diseases

Associated diseases	References
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R