• Gene id: 388630

Gene Summary

• Gene Symbol: TRABD2B   Gene   UCSC   Ensembl
• Aliases: TIKI2
• Gene name: TraB domain containing 2B
• Alternate names: metalloprotease TIKI2, TRAB domain-containing protein 2B, UPF0632 protein A, heart, kidney and adipose-enriched transmembrane protein homolog,
• Gene location: 1p33 (47997384: 47760527)     Exons: 11     NC_000001.11
• OMIM: 614913

Protein Summary

• Protein general information: A6NFA1  
  • Name: Metalloprotease TIKI2 (EC 3.4. . ) (Heart, kidney and adipose enriched transmembrane protein homolog) (TRAB domain containing protein 2B)
  • Length: 517  
  • Mass: 57421
• Sequence:

  MHAALAGPLLAALLATARARPQPPDGGQCRPPGSQRDLNSFLWTIRRDPPAYLFGTIHVPYTRVWDFIPDNSKAA
  FQASTRVYFELDLTDPYTISALASCQLLPHGENLQDVLPHELYWRLKRHLDYVKLMMPSWMTPAQRGKGLYADYL
  FNAIAGNWERKRPVWVMLMVNSLTERDVRFRGVPVLDLYLAQQAEKMKKTTGAVEQVEEQCHPLNNGLNFSQVLF
  ALNQTLLQQESVRAGSLQASYTTEDLIKHYNCGDLSAVIFNHDTSQLPNFINTTLPPHEQVTAQEIDSYFRQELI
  YKRNERMGKRVMALLRENEDKICFFAFGAGHFLGNNTVIDILRQAGLEVDHTPAGQAIHSPAPQSPAPSPEGTST
  SPAPVTPAAAVPEAPSVTPTAPPEDEDPALSPHLLLPDSLSQLEEFGRQRKWHKRQSTHQRPRQFNDLWVRIEDS
  TTASPPPLPLQPTHSSGTAKPPFQLSDQLQQQDPPGPASSSAPTLGLLPAIATTIAVCFLLHSLGPS

• Structural information:
  • Interpro: IPR040230  IPR002816  
  • STRING: ENSP00000476820
• Other Databases: GeneCards:  TRABD2B  Malacards:  TRABD2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004222	metalloendopeptidase activity	IDA	molecular function
GO:0006508	proteolysis	IDA	biological process
GO:1904808	positive regulation of protein oxidation	IDA	biological process
GO:0031334	positive regulation of protein-containing complex assembly	IDA	biological process
GO:0017147	Wnt-protein binding	IPI	molecular function
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:0008233	peptidase activity	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0006508	proteolysis	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0008237	metallopeptidase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component

Diseases

Associated diseases	References
Teratozoospermia	MIK: 17327269
Unexplained infertility	MIK: 25753583

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)
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray