TBC1D13 Gene
TBC1 Domain Family Member 13
Gene Information Card
| Symbol | TBC1D13 |
|---|---|
| Full Name | TBC1 Domain Family Member 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 9q34.3 |
| NCBI Gene ID | 54662 ncbi.nlm.nih.gov/gene/54662 |
| Ensembl ID | ENSG00000107104 |
| UniProt ID | Q9P0V3 |
| OMIM ID | 616900 |
| HGNC ID | 29056 |
| Aliases | FLJ11273, MGC138499, MGC138500 |
Description
TBC1D13 encodes a member of the TBC (Tre-2/Bub2/Cdc16) domain-containing family of Rab GTPase-activating proteins (Rab GAPs). The protein functions as a negative regulator of Rab11, a small GTPase involved in endocytic recycling. TBC1D13 is implicated in vesicle trafficking and may play a role in cancer and metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression; potential role in Rab11-mediated trafficking affecting cell proliferation and migration | COSMIC; literature |
| Type 2 diabetes | Possible involvement in insulin signaling via GLUT4 trafficking regulation | Literature; UniProt |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Heart | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
| Lung | 7.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 10.2 | Moderate expression |
| HEK293 | 8.5 | Low expression |
| MCF7 | 11.8 | Moderate expression |
| HepG2 | 6.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown; predicted benign |
| c.452G>A (p.Arg151His) | Missense | <0.01% | Unknown; predicted possibly damaging |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rab GTPase binding |
| • intracellular protein transport | • endocytic recycling |
| • regulation of Rab GTPase activity |
Pathways
• Rab11-mediated recycling endosome pathway
• Vesicle-mediated transport
Protein Summary
TBC1D13 is a 548-amino acid protein containing a TBC domain that catalyzes the conversion of active Rab11-GTP to inactive Rab11-GDP. It localizes to recycling endosomes and regulates endocytic trafficking. The protein is widely expressed with highest levels in testis and brain.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D13 Knockout HEK293 Cell Line | EDJ-KQ11477 | Human | 54662 | Details Get a Quote |
| TBC1D13 Knockout A-549 Cell Line | EDJ-KQ39793 | Human | 54662 | Details Get a Quote |
| TBC1D13 Knockout HCT 116 Cell Line | EDJ-KQ39794 | Human | 54662 | Details Get a Quote |
| TBC1D13 Knockout HeLa Cell Line | EDJ-KQ39795 | Human | 54662 | Details Get a Quote |
