TRABD2B (TraB domain containing 2B)

Gene

• Entrez ID: 388630
• Gene name: TraB domain containing 2B
• Gene symbol: TRABD2B
• Synonyms (NCBI Gene): TIKI2
• Chromosome: 1
• Chromosome location: 1p33

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004175	Function	Endopeptidase activity	IEA
GO:0004222	Function	Metalloendopeptidase activity	IBA
GO:0004222	Function	Metalloendopeptidase activity	IDA	22726442
GO:0005515	Function	Protein binding	IPI	22726442, 36994853
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA	22726442
GO:0005886	Component	Plasma membrane	IEA
GO:0006508	Process	Proteolysis	IDA	22726442
GO:0006508	Process	Proteolysis	IEA
GO:0008233	Function	Peptidase activity	IEA
GO:0008237	Function	Metallopeptidase activity	IEA
GO:0016020	Component	Membrane	IEA
GO:0016055	Process	Wnt signaling pathway	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0017147	Function	Wnt-protein binding	IBA
GO:0017147	Function	Wnt-protein binding	IDA	22726442
GO:0017147	Function	Wnt-protein binding	IPI	22726442
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IBA
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IDA	22726442
GO:0030178	Process	Negative regulation of Wnt signaling pathway	IEA
GO:0031090	Component	Organelle membrane	IBA
GO:0031090	Component	Organelle membrane	IDA	22726442
GO:0031334	Process	Positive regulation of protein-containing complex assembly	IDA	22726442
GO:0046872	Function	Metal ion binding	IEA

Other IDs

• MIM: 614913
• HGNC: 44200
• e!Ensembl: ENSG00000269113

Protein

• UniProt ID: A6NFA1
• Protein name: Metalloprotease TIKI2 (EC 3.4.-.-) (Heart, kidney and adipose-enriched transmembrane protein homolog) (TRAB domain-containing protein 2B)
• Protein function: Metalloprotease that acts as a negative regulator of the Wnt signaling pathway by mediating the cleavage of the 8 N-terminal residues of a subset of Wnt proteins. Following cleavage, Wnt proteins become oxidized and form large disulfide-bond oli
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF01963	TraB	41 → 351	TraB family	Family

• Sequence:

  MHAALAGPLLAALLATARARPQPPDGGQCRPPGSQRDLNSFLWTIRRDPPAYLFGTIHVP
  YTRVWDFIPDNSKAAFQASTRVYFELDLTDPYTISALASCQLLPHGENLQDVLPHELYWR
  LKRHLDYVKLMMPSWMTPAQRGKGLYADYLFNAIAGNWERKRPVWVMLMVNSLTERDVRF
  RGVPVLDLYLAQQAEKMKKTTGAVEQVEEQCHPLNNGLNFSQVLFALNQTLLQQESVRAG
  SLQASYTTEDLIKHYNCGDLSAVIFNHDTSQLPNFINTTLPPHEQVTAQEIDSYFRQELI
  YKRNERMGKRVMALLRENEDKICFFAFGAGHFLGNNTVIDILRQAGLEVDHTPAGQAIHS
  PAPQSPAPSPEGTSTSPAPVTPAAAVPEAPSVTPTAPPEDEDPALSPHLLLPDSLSQLEE
  FGRQRKWHKRQSTHQRPRQFNDLWVRIEDSTTASPPPLPLQPTHSSGTAKPPFQLSDQLQ
  QQDPPGPASSSAPTLGLLPAIATTIAVCFLLHSLGPS

• Sequence length: 517

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
DIABETIC NEPHROPATHY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MASTOCYTOSIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MENIERE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Colorectal Neoplasms	Associate	23350875	★☆☆☆☆ Found in Text Mining only
Hypoalphalipoproteinemias	Associate	28473662	★☆☆☆☆ Found in Text Mining only
Sleep Apnea Obstructive	Associate	23524009	★☆☆☆☆ Found in Text Mining only
Technophobia	Associate	33941792	★☆☆☆☆ Found in Text Mining only