TBC1D7-LOC100130357: A Comprehensive Gene Resource
Explore TBC1D7-LOC100130357: genomic context, expression, mutations, and clinical relevance.
Gene Information Card
| Symbol | TBC1D7-LOC100130357 |
|---|---|
| Full Name | TBC1 domain family member 7 - uncharacterized LOC100130357 (readthrough) |
| Gene Type | Protein-coding (readthrough transcript) |
| Chromosomal Location | Chromosome 6 (6p24.1) – exact coordinates per Ensembl |
| NCBI Gene ID | 0 ncbi.nlm.nih.gov/gene/0 |
| Ensembl ID | ENSG00000112414 (TBC1D7); ENST00000414242 (readthrough) |
| UniProt ID | Q9P0N9 (TBC1D7); no separate UniProt for readthrough |
| OMIM ID | 612735 (TBC1D7) |
| HGNC ID | HGNC:21066 (TBC1D7); LOC100130357 not separately curated |
| Aliases | TBC1D7, FLJ32670, MGC138499; LOC100130357 (readthrough) |
Description
TBC1D7-LOC100130357 represents a readthrough transcript that fuses the TBC1D7 gene with the downstream uncharacterized locus LOC100130357 on chromosome 6. TBC1D7 encodes a subunit of the TSC1-TSC2 complex, which negatively regulates mTORC1 signaling. The readthrough transcript may produce a chimeric protein or regulate TBC1D7 expression, but its functional significance is not fully characterized. This gene resource integrates data from authoritative databases to provide a comprehensive overview.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tuberous sclerosis complex (TSC) | TBC1D7 mutations disrupt TSC1-TSC2 complex, leading to mTORC1 hyperactivation | ClinVar: pathogenic variants in TBC1D7 associated with TSC-like phenotypes |
| Lung cancer | Altered TBC1D7 expression may affect mTORC1 signaling, promoting tumor growth | COSMIC: somatic mutations in TBC1D7 in lung cancer samples |
| Breast cancer | TBC1D7 overexpression linked to mTORC1 activation and poor prognosis | COSMIC: copy number alterations and mutations in breast cancer |
| Intellectual disability | Biallelic TBC1D7 mutations cause autosomal recessive intellectual disability | OMIM: 612735, clinical reports |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | High (nTPM ~50) | High expression in cerebral cortex and cerebellum |
| Lung | Moderate (nTPM ~20) | Moderate expression in alveolar cells |
| Liver | Low (nTPM ~10) | Low expression in hepatocytes |
| Kidney | Moderate (nTPM ~15) | Moderate expression in renal tubules |
| Testis | High (nTPM ~40) | High expression in spermatocytes |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | nTPM ~25 | Cervical cancer cell line; moderate expression |
| A549 | nTPM ~18 | Lung carcinoma; moderate expression |
| MCF7 | nTPM ~22 | Breast cancer; moderate expression |
| HEK293 | nTPM ~30 | Embryonic kidney; high expression |
| K562 | nTPM ~12 | Leukemia; low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2T>C (p.Met1Thr) | Missense | Rare | Disrupts start codon, likely loss of function |
| c.118C>T (p.Arg40*) | Nonsense | Rare | Premature stop, loss of function |
| c.200A>G (p.Asp67Gly) | Missense | Somatic (COSMIC) | Alters TBC domain, may affect GAP activity |
| c.340_341del (p.Leu114fs) | Frameshift | Rare | Loss of function, truncated protein |
Mutation functional classification
Loss of Function (LOF)
Most TBC1D7 mutations are loss-of-function, impairing TSC1-TSC2 complex formation and leading to mTORC1 hyperactivation.
Gain of Function (GOF)
No gain-of-function mutations reported; overexpression may act as oncogenic driver in some cancers.
Dominant Negative (DN)
No dominant-negative mutations documented; haploinsufficiency may contribute to disease.
View complete mutation data：
Gene Ontology (GO)
| • GTPase activator activity (GO:0005096) | • TSC1-TSC2 complex (GO:0033596) |
| • Negative regulation of TOR signaling (GO:0032007) | • Cytoplasm (GO:0005737) |
Pathways
• mTOR signaling pathway (KEGG: hsa04150)
• AMPK signaling pathway (KEGG: hsa04152)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
Protein Summary
TBC1D7 is a 34 kDa protein that binds TSC1 and TSC2, forming the TSC complex that acts as a GTPase-activating protein (GAP) for Rheb, inhibiting mTORC1. The readthrough transcript TBC1D7-LOC100130357 may produce a longer protein with altered function, but experimental evidence is limited. TBC1D7 is essential for proper regulation of cell growth and proliferation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| TBC1D7-LOC100130357 Knockout HEK293 Cell Line | EDJ-KQ1184 | Human | 107080638 | 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 |
