TBC1D14 Gene - TBC1 Domain Family Member 14
Complete guide to TBC1D14: function, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | TBC1D14 |
|---|---|
| Full Name | TBC1 domain family member 14 |
| Gene Type | gene with protein product |
| Chromosomal Location | 4p16.1 |
| NCBI Gene ID | 57533 ncbi.nlm.nih.gov/gene/57533 |
| Ensembl ID | ENSG00000132405 |
| UniProt ID | Q9P2M4 |
| OMIM ID | 614855 |
| HGNC ID | HGNC:29246 |
| Aliases | KIAA1322 |
Description
TBC1D14 (TBC1 domain family member 14) is a protein-coding gene located on chromosome 4p16.1. It encodes a member of the TBC (Tre-2/Bub2/Cdc16) domain-containing protein family, which are known to function as GTPase-activating proteins (GAPs) for Rab GTPases. TBC1D14 is involved in regulating membrane trafficking, particularly in the endosomal and autophagic pathways. It has been implicated in the regulation of autophagy and vesicle transport. Mutations and altered expression of TBC1D14 have been associated with certain cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer | Altered expression and mutations may affect autophagy and vesicle trafficking, contributing to tumorigenesis. | COSMIC, PubMed |
| Neurodegenerative disorders | Impaired autophagy due to TBC1D14 dysfunction may lead to protein aggregation and neuronal cell death. | PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 15.2 | Medium |
| Testis | 12.8 | Medium |
| Kidney | 10.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 7.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | Cervical cancer cell line |
| A549 | 10.2 | Lung cancer cell line |
| HepG2 | 9.8 | Liver cancer cell line |
| SH-SY5Y | 14.3 | Neuroblastoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234A>G (p.Thr412Ala) | Missense | 0.01% | May affect protein function |
| c.567C>T (p.Pro189Leu) | Missense | 0.02% | Potential impact on GAP activity |
| c.890_891insA (p.Leu297fs) | Frameshift | Rare | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations that truncate the protein are likely to result in loss of function, impairing its GAP activity and disrupting vesicle trafficking.
Gain of Function (GOF)
No evidence for gain-of-function mutations; most reported variants are loss-of-function or neutral.
Dominant Negative (DN)
Some missense mutations may act in a dominant-negative manner by interfering with the normal protein's function, but this requires further investigation.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • Rab GTPase binding |
| • Endosome | • Autophagosome |
| • Cytoplasm | • Membrane |
Pathways
• Autophagy
• Endocytosis
• Vesicle-mediated transport
Protein Summary
TBC1D14 is a 100 kDa protein containing a TBC domain that acts as a GTPase-activating protein (GAP) for Rab GTPases, particularly Rab11 and Rab35. It localizes to endosomes and autophagosomes, where it regulates membrane trafficking and autophagosome formation. TBC1D14 interacts with other autophagy regulators such as ULK1 and ATG9, and its activity is crucial for starvation-induced autophagy. It also plays a role in neurite outgrowth and synaptic vesicle recycling in neurons.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D14 Knockout HEK293 Cell Line | EDJ-KQ15645 | Human | 57533 | Details Get a Quote |
| TBC1D14 Knockout A-549 Cell Line | EDJ-KQ46541 | Human | 57533 | Details Get a Quote |
| TBC1D14 Knockout HCT 116 Cell Line | EDJ-KQ46542 | Human | 57533 | Details Get a Quote |
| TBC1D14 Knockout HeLa Cell Line | EDJ-KQ46543 | Human | 57533 | Details Get a Quote |
