• Gene id: 23232

Gene Summary

• Gene Symbol: TBC1D12   Gene   UCSC   Ensembl
• Gene name: TBC1 domain family member 12
• Alternate names: TBC1 domain family member 12,
• Gene location: 10q23.33 (94402428: 94536331)     Exons: 16     NC_000010.11
• OMIM: 0

Protein Summary

• Protein general information: O60347  
  • Name: TBC1 domain family member 12
  • Length: 775  
  • Mass: 85626
• Sequence:

  MVGPEDAGACSGRNPKLLPVPAPDPVGQDRKVIRATGGFGGGVGAVEPPEEADEEEEADEEEETPPRQLLQRYLA
  AAGEQLEPGLCYCPLPAGQAGAPPPSAAPRSDACLLGSGSKHRGAEVADGRAPRHEGMTNGDSGFLPGRDCRDLE
  EARGLARAGGRESRRRRPYGRLRLEGPGDEDADGAGSPSDWASPLEDPLRSCCLVAADAQEPEGAGSDSGDSPAS
  SCSSSEDSEQRGVGAGGPEEGAPPATSAERTNGGAEPRLGFSDIHFNSRNTFQVSRGQSARDHLPPAGPPVPLPA
  AEQGPAGASARARRSGGFADFFTRNLFPKRTKELKSVVHSAPGWKLFGKVPPRENLQKTSKIIQQEYEARTGRTC
  KPPPQSSRRKNFEFEPLSTTALILEDRPSNLPAKSVEEALRHRQEYDEMVAEAKKREIKEAHKRKRIMKERFKQE
  ENIASAMVIWINEILPNWEVMRSTRRVRELWWQGLPPSVRGKVWSLAVGNELNITPELYEIFLSRAKERWKSFSE
  TSSENDTEGVSVADREASLELIKLDISRTFPSLYIFQKGGPYHDVLHSILGAYTCYRPDVGYVQGMSFIAAVLIL
  NLEEADAFIAFANLLNKPCQLAFFRVDHSMMLKYFATFEVFFEENLSKLFLHFKSYSLTPDIYLIDWIFTLYSKS
  LPLDLACRVWDVFCRDGEEFLFRTGLGILRLYEDILLQMDFIHIAQFLTKLPEDITSEKLFSCIAAIQMQNSTKK
  WTQVFASVMKDIKEGDKNSSPALKS

• Structural information:
  • Protein Domains: (484..69-)
    (/note="Rab-GAP-TBC)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00163"-)
  • Interpro: IPR000195  IPR035969  
  • Prosite: PS50086
  • STRING: ENSP00000225235
• Other Databases: GeneCards:  TBC1D12  Malacards:  TBC1D12

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005768	endosome	IEA	cellular component
GO:2000785	regulation of autophagosome assembly	IBA	biological process
GO:0090630	activation of GTPase activity	IBA	biological process
GO:0055037	recycling endosome	IBA	cellular component
GO:0017137	Rab GTPase binding	IBA	molecular function
GO:0006886	intracellular protein transport	IBA	biological process
GO:0005776	autophagosome	IBA	cellular component
GO:0005096	GTPase activator activity	IBA	molecular function
GO:0005768	endosome	IEA	cellular component
GO:0005096	GTPase activator activity	IEA	molecular function

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
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