TBC1D10B Gene - TBC1 Domain Family Member 10B
A Rab GTPase-activating protein involved in vesicle trafficking and immune regulation
Gene Information Card
| Symbol | TBC1D10B |
|---|---|
| Full Name | TBC1 domain family member 10B |
| Gene Type | Protein coding |
| Chromosomal Location | 16p13.3 |
| NCBI Gene ID | 26000 ncbi.nlm.nih.gov/gene/26000 |
| Ensembl ID | ENSG00000140937 |
| UniProt ID | Q9P0X4 |
| OMIM ID | 610972 |
| HGNC ID | 28987 |
| Aliases | EPI64B, FLJ13154, MGC13170 |
Description
TBC1D10B (TBC1 domain family member 10B) is a protein-coding gene that encodes a Rab GTPase-activating protein (RabGAP). The protein contains a TBC (Tre-2/Bub2/Cdc16) domain and functions as a GTPase activator for Rab family members, regulating vesicle trafficking and membrane transport. TBC1D10B is implicated in immune cell function, particularly in T-cell receptor signaling and exosome secretion. Alterations in TBC1D10B expression have been observed in certain cancers and immune disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Breast cancer | Altered expression may affect Rab-mediated vesicle trafficking, influencing tumor progression | COSMIC; PMID: 25691885 |
| Melanoma | Downregulation associated with impaired immune surveillance | COSMIC; PMID: 27397505 |
| Immunodeficiency | Potential role in T-cell activation defects | ClinVar; PMID: 25297964 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Lymph node | 12.5 | Medium |
| Spleen | 10.8 | Medium |
| Bone marrow | 8.2 | Low |
| Lung | 6.1 | Low |
| Brain | 2.3 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.2 | High expression |
| Jurkat (T-cell) | 22.1 | High expression |
| HeLa | 9.8 | Medium expression |
| MCF7 (breast cancer) | 7.5 | Low expression |
| A549 (lung cancer) | 5.3 | 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 functional impact |
| c.452A>G (p.Asn151Ser) | Missense | <0.01% | May alter RabGAP activity |
| c.789_790insA | Frameshift | <0.01% | Predicted loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations (e.g., c.789_790insA) are predicted to truncate the protein, disrupting the TBC domain and RabGAP activity.
Gain of Function (GOF)
No gain-of-function mutations reported in curated databases.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • Rab GTPase binding (GO:0017137) |
| • regulation of Rab GTPase activity (GO:0032313) | • vesicle-mediated transport (GO:0016192) |
| • intracellular protein transport (GO:0006886) |
Pathways
• Rab regulation of trafficking (Reactome: R-HSA-9007101)
• Membrane trafficking (Reactome: R-HSA-199991)
Protein Summary
TBC1D10B is a 551-amino acid protein containing a TBC domain that catalyzes the hydrolysis of GTP to GDP on Rab GTPases, thereby inactivating them. It localizes to endosomal membranes and regulates endocytic recycling and exosome biogenesis. In immune cells, TBC1D10B modulates T-cell receptor recycling and cytokine secretion. The protein is encoded by the TBC1D10B gene on chromosome 16p13.3.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D10B Knockout HEK293 Cell Line | EDJ-KQ8348 | Human | 26000 | Details Get a Quote |
| TBC1D10B Knockout A-549 Cell Line | EDJ-KQ34363 | Human | 26000 | Details Get a Quote |
| TBC1D10B Knockout HCT 116 Cell Line | EDJ-KQ34364 | Human | 26000 | Details Get a Quote |
| TBC1D10B Knockout HeLa Cell Line | EDJ-KQ34365 | Human | 26000 | Details Get a Quote |
