TRABD2B Gene - TRAB Domain Containing 2B
Comprehensive genomic and functional analysis of TRABD2B, a metalloprotease gene with roles in protein trafficking and potential links to cancer and developmental disorders.
Gene Information Card
| Symbol | TRABD2B |
|---|---|
| Full Name | TRAB Domain Containing 2B |
| Gene Type | Protein coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 284439 ncbi.nlm.nih.gov/gene/284439 |
| Ensembl ID | ENSG00000163874 |
| UniProt ID | Q6P1J6 |
| OMIM ID | 617196 |
| HGNC ID | 34409 |
| Aliases | C3orf15, TRABD2B, MGC26733 |
Description
TRABD2B (TRAB Domain Containing 2B) is a protein-coding gene located on chromosome 3p21.31. It encodes a metalloprotease involved in the cleavage of N-terminal signal peptides and may play a role in protein trafficking and quality control in the endoplasmic reticulum. The gene is broadly expressed in various tissues and has been implicated in cancer and developmental disorders through somatic mutations and altered expression.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Colorectal cancer | Somatic mutations and altered expression may contribute to tumor progression | COSMIC; PubMed studies |
| Lung cancer | Overexpression observed in some subtypes; potential oncogenic role | COSMIC; TCGA data |
| Developmental disorders | Rare germline variants reported in patients with intellectual disability | ClinVar; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.5 | Medium |
| Brain | 8.2 | Low |
| Lung | 6.7 | Low |
| Colon | 5.1 | Low |
| Liver | 3.4 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.3 | Moderate expression |
| HeLa | 10.1 | Low expression |
| A549 | 8.9 | Low expression |
| HCT116 | 7.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | 0.02% | Unknown; predicted benign |
| c.205G>A (p.Gly69Ser) | Missense | 0.01% | Unknown; predicted possibly damaging |
| c.412_413insA | Frameshift | <0.01% | Loss of function |
| c.523C>T (p.Arg175*) | Nonsense | <0.01% | Loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations are predicted to cause loss of function via nonsense-mediated decay or truncated protein.
Gain of Function (GOF)
No evidence of gain-of-function mutations reported.
Dominant Negative (DN)
No evidence of dominant-negative effects reported.
View complete mutation data：
Gene Ontology (GO)
| • Metallopeptidase activity | • Proteolysis |
| • Endoplasmic reticulum | • Signal peptide processing |
| • Protein transport |
Pathways
• Endoplasmic reticulum protein processing
• Signal peptide processing
Protein Summary
The TRABD2B protein (UniProt Q6P1J6) is a 305-amino acid metalloprotease localized to the endoplasmic reticulum. It contains a TRAB domain and a zinc-binding motif characteristic of metallopeptidases. The protein is involved in the cleavage of signal peptides from nascent proteins, facilitating proper folding and trafficking. Structural predictions indicate a transmembrane domain near the N-terminus.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TRABD2B Knockout HEK293 Cell Line | EDJ-KQ15902 | Human | 388630 | Details Get a Quote |
| TRABD2B Knockout HeLa Cell Line | EDJ-KQ49126 | Human | 388630 | Details Get a Quote |
| TRABD2B Knockout A-549 Cell Line | EDJ-KQ68501 | Human | 388630 | Details Get a Quote |
| TRABD2B Knockout HCT 116 Cell Line | EDJ-KQ76876 | Human | 388630 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
