TBC1D25 Gene - TBC1 Domain Family Member 25
Comprehensive genomic and functional analysis of TBC1D25, a Rab GTPase-activating protein involved in autophagy and vesicle trafficking.
Gene Information Card
| Symbol | TBC1D25 |
|---|---|
| Full Name | TBC1 Domain Family Member 25 |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 137835 ncbi.nlm.nih.gov/gene/137835 |
| Ensembl ID | ENSG00000102054 |
| UniProt ID | Q9BQ89 |
| OMIM ID | 300752 |
| HGNC ID | 29086 |
| Aliases | FLJ22624, MGC138290, MGC138291 |
Description
TBC1D25 (TBC1 Domain Family Member 25) encodes a Rab GTPase-activating protein (RabGAP) that regulates membrane trafficking and autophagy. It specifically acts as a GAP for Rab33B, promoting GTP hydrolysis and modulating autophagosome formation. The gene is located on the X chromosome at Xq28 and is expressed in multiple tissues.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various) | Altered expression may disrupt autophagy and vesicle trafficking, contributing to tumorigenesis. | COSMIC; limited direct evidence. |
| Neurodegenerative disorders | Impaired autophagy linked to RabGAP dysfunction; speculative based on pathway. | Inferred from pathway (autophagy). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.3 | Low |
| Liver | 6.1 | Low |
| Kidney | 9.7 | Low |
| Testis | 15.2 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.4 | Low expression |
| A549 | 6.8 | Low expression |
| K562 | 5.2 | Very 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 effect |
| c.452A>G (p.Asn151Ser) | Missense | <0.01% | Unknown functional effect |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in major databases.
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 | • autophagy |
| • vesicle-mediated transport |
Pathways
• Autophagy
• Rab regulation of trafficking
Protein Summary
TBC1D25 is a 559-amino acid protein containing a TBC (Tre-2/Bub2/Cdc16) domain that confers RabGAP activity. It localizes to the Golgi apparatus and autophagic membranes, where it inactivates Rab33B by stimulating GTP hydrolysis. This regulation is critical for autophagosome biogenesis and membrane trafficking.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D25 Knockout HEK293 Cell Line | EDJ-KQ5376 | Human | 4943 | Details Get a Quote |
| TBC1D25 Knockout A-549 Cell Line | EDJ-KQ28511 | Human | 4943 | Details Get a Quote |
| TBC1D25 Knockout HCT 116 Cell Line | EDJ-KQ28512 | Human | 4943 | Details Get a Quote |
| TBC1D25 Knockout HeLa Cell Line | EDJ-KQ28513 | Human | 4943 | Details Get a Quote |
