• Gene id: 129293

Gene Summary

• Gene Symbol: TRABD2A   Gene   UCSC   Ensembl
• Aliases: C2orf89, TIKI1
• Gene name: TraB domain containing 2A
• Alternate names: metalloprotease TIKI1, TRAB domain-containing protein 2A, UPF0632 protein C2orf89,
• Gene location: 2p11.2 (84881974: 84821649)     Exons: 9     NC_000002.12
• OMIM: 120250

Protein Summary

• Protein general information: Q86V40  
  • Name: Metalloprotease TIKI1 (EC 3.4. . ) (TRAB domain containing protein 2A)
  • Length: 505  
  • Mass: 57676
• Sequence:

  MSPWSWFLLQTLCLLPTGAASRRGAPGTANCELKPQQSELNSFLWTIKRDPPSYFFGTIHVPYTRVWDFIPDNSK
  EAFLQSSIVYFELDLTDPYTISALTSCQMLPQGENLQDVLPRDIYCRLKRHLEYVKLMMPLWMTPDQRGKGLYAD
  YLFNAIAGNWERKRPVWVMLMVNSLTEVDIKSRGVPVLDLFLAQEAERLRKQTGAVEKVEEQCHPLNGLNFSQVI
  FALNQTLLQQESLRAGSLQIPYTTEDLIKHYNCGDLSSVILSHDSSQVPNFINATLPPQERITAQEIDSYLRREL
  IYKRNERIGKRVKALLEEFPDKGFFFAFGAGHFMGNNTVLDVLRREGYEVEHAPAGRPIHKGKSKKTSTRPTLST
  IFAPKVPTLEVPAPEAVSSGHSTLPPLVSRPGSADTPSEAEQRFRKKRRRSQRRPRLRQFSDLWVRLEESDIVPQ
  LQVPVLDRHISTELRLPRRGHSHHSQMVASSACLSLWTPVFWVLVLAFQTETPLL

• Structural information:
  • Interpro: IPR040230  IPR002816  
  • STRING: ENSP00000387075
• Other Databases: GeneCards:  TRABD2A  Malacards:  TRABD2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004175	endopeptidase activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:1904808	positive regulation of protein oxidation	ISS	biological process
GO:0004222	metalloendopeptidase activity	ISS	molecular function
GO:0031334	positive regulation of protein-containing complex assembly	ISS	biological process
GO:0004222	metalloendopeptidase activity	IBA	molecular function
GO:0005887	integral component of plasma membrane	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0017147	Wnt-protein binding	IBA	molecular function
GO:0030178	negative regulation of Wnt signaling pathway	IBA	biological process
GO:0031301	integral component of organelle membrane	IBA	cellular component
GO:0031301	integral component of organelle membrane	IDA	cellular component
GO:0030178	negative regulation of Wnt signaling pathway	IDA	biological process
GO:0017147	Wnt-protein binding	IDA	molecular function
GO:0005887	integral component of plasma membrane	IDA	cellular component
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0060322	head development	ISS	biological process
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0008233	peptidase activity	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray