Gene Gene information from NCBI Gene database. Download as csv Download as pdf
Entrez ID	107080638
Gene name	-
Gene symbol	TBC1D7-LOC100130357
Synonyms (NCBI Gene)	-
Chromosome	6
Chromosome location	6p24.1
Summary	This locus represents naturally occurring readthrough transcription between the neighboring TBC1D7 (TBC1 domain family member 7) gene and downstream uncharacterized LOC100130357 on chromosome 6. Readthrough transcripts may encode the same protein as TBC1

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GO ID	Ontology	Definition	Evidence	Reference
GO:0005096	Function	GTPase activator activity	IBA
GO:0005096	Function	GTPase activator activity	IDA	17646400
GO:0005096	Function	GTPase activator activity	IEA
GO:0005515	Function	Protein binding	IPI	17658474, 22354992, 25416956, 27107012, 28514442, 31515488, 32296183, 33436626, 33961781
GO:0005737	Component	Cytoplasm	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	24529379
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005829	Component	Cytosol	IDA	24529379
GO:0005829	Component	Cytosol	IEA
GO:0005829	Component	Cytosol	TAS
GO:0009267	Process	Cellular response to starvation	IDA	24529379
GO:0016020	Component	Membrane	IEA
GO:0031267	Function	Small GTPase binding	IPI	17646400
GO:0031398	Process	Positive regulation of protein ubiquitination	IDA	17658474
GO:0031410	Component	Cytoplasmic vesicle	IDA	17658474
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IBA
GO:0032007	Process	Negative regulation of TOR signaling	IDA	22795129
GO:0032007	Process	Negative regulation of TOR signaling	IEA
GO:0032007	Process	Negative regulation of TOR signaling	IMP	22795129
GO:0033596	Component	TSC1-TSC2 complex	IBA
GO:0033596	Component	TSC1-TSC2 complex	IDA	24529379, 33436626
GO:0033596	Component	TSC1-TSC2 complex	IPI	22795129
GO:0036064	Component	Ciliary basal body	IDA	17646400
GO:0043547	Process	Positive regulation of GTPase activity	IDA	17646400
GO:0062078	Function	TSC1-TSC2 complex binding	IBA
GO:0070848	Process	Response to growth factor	IMP	22795129
GO:0090630	Process	Activation of GTPase activity	IMP	22795129
GO:1902018	Process	Negative regulation of cilium assembly	IMP	17646400
GO:1904262	Process	Negative regulation of TORC1 signaling	IDA	24529379

MIM	HGNC	e!Ensembl
ENSG00000145979	N/A	N/A

Interactions View interactions

KEGG Pathway	Reactome Pathway
mTOR signaling pathway	TBC/RABGAPs

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Phenotype Name	Clinical Significance	Source	Reference	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70	—	Disgenet	—	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Malignant neoplasm of lung	Lung Cancer	BEFREE	20095038		★★★★★ ★☆☆☆☆ Found in Text Mining only

TBC1D7-LOC100130357 (-)

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