TBC1D7 Gene - TBC1 Domain Family Member 7
A key regulator of TSC1-TSC2 complex and mTOR signaling pathway
Gene Information Card
| Symbol | TBC1D7 |
|---|---|
| Full Name | TBC1 domain family member 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 6p24.1 |
| NCBI Gene ID | 51256 ncbi.nlm.nih.gov/gene/51256 |
| Ensembl ID | ENSG00000111860 |
| UniProt ID | Q9P0N9 |
| OMIM ID | 612655 |
| HGNC ID | 21066 |
| Aliases | TBC1D7, TBC1 domain family member 7, TBC1D7_HUMAN |
Description
TBC1D7 (TBC1 domain family member 7) is a protein-coding gene located on chromosome 6p24.1. It encodes a subunit of the TSC1-TSC2 complex, which negatively regulates mTORC1 signaling. TBC1D7 stabilizes the TSC1-TSC2 complex and is essential for proper regulation of cell growth and proliferation. Mutations in TBC1D7 are associated with tuberous sclerosis complex (TSC) and other mTOR-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tuberous Sclerosis Complex (TSC) | Loss of TBC1D7 disrupts TSC1-TSC2 complex stability, leading to mTORC1 hyperactivation and uncontrolled cell growth | ClinVar, OMIM |
| Intellectual Disability | TBC1D7 mutations impair neuronal mTOR signaling, affecting synaptic plasticity and cognitive function | ClinVar, OMIM |
| Epilepsy | mTOR pathway dysregulation due to TBC1D7 deficiency contributes to neuronal hyperexcitability and seizure activity | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Testis | 10.2 | Medium |
| Lung | 8.1 | Low |
| Liver | 6.3 | Low |
| Kidney | 5.9 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 15.0 | High expression |
| HeLa | 11.2 | Medium expression |
| A549 | 9.8 | Medium expression |
| MCF7 | 7.5 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, likely loss of function |
| c.124C>T (p.Arg42*) | Nonsense | Rare | Premature stop, loss of function |
| c.347_348del (p.Gln116fs) | Frameshift | Rare | Frameshift, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most TBC1D7 mutations are loss-of-function, leading to TSC1-TSC2 complex destabilization and mTORC1 hyperactivation.
Gain of Function (GOF)
No gain-of-function mutations reported in TBC1D7.
Dominant Negative (DN)
No dominant-negative mutations reported in TBC1D7.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity | • TSC1-TSC2 complex |
| • negative regulation of TOR signaling | • regulation of cell growth |
| • protein stabilization |
Pathways
• mTOR signaling pathway (KEGG: hsa04150)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• Tuberous sclerosis pathway (Reactome: R-HSA-2032785)
Protein Summary
TBC1D7 is a 293-amino acid protein that functions as a subunit of the TSC1-TSC2 complex. It contains a TBC (Tre-2/Bub2/Cdc16) domain but lacks Rab-GAP activity. Instead, TBC1D7 stabilizes the TSC1-TSC2 complex by binding to TSC1, preventing its ubiquitination and degradation. This complex acts as a GTPase-activating protein (GAP) for Rheb, inhibiting mTORC1 signaling. TBC1D7 is widely expressed, with highest levels in brain and testis. Loss of TBC1D7 leads to mTORC1 hyperactivation, contributing to tuberous sclerosis and related disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D7 Knockout HEK293 Cell Line | EDJ-KQ1183 | Human | 51256 | Details Get a Quote |
| TBC1D7-LOC100130357 Knockout HEK293 Cell Line | EDJ-KQ1184 | Human | 107080638 | Details Get a Quote |
| TBC1D7 Knockout A-549 Cell Line | EDJ-KQ20462 | Human | 51256 | Details Get a Quote |
| TBC1D7 Knockout HCT 116 Cell Line | EDJ-KQ20463 | Human | 51256 | Details Get a Quote |
| TBC1D7 Knockout HeLa Cell Line | EDJ-KQ20464 | Human | 51256 | Details Get a Quote |
| TBC1D7-LOC100130357 Knockout A-549 Cell Line | EDJ-KQ20465 | Human | 107080638 | Details Get a Quote |
| TBC1D7-LOC100130357 Knockout HCT 116 Cell Line | EDJ-KQ20466 | Human | 107080638 | Details Get a Quote |
| TBC1D7-LOC100130357 Knockout HeLa Cell Line | EDJ-KQ20467 | Human | 107080638 | Details Get a Quote |
