TBC1D7 (TBC1 domain family member 7)

Gene

• Entrez ID: 51256
• Gene name: TBC1 domain family member 7
• Gene symbol: TBC1D7
• Synonyms (NCBI Gene): MGCPH, PIG51, TBC7
• Chromosome: 6
• Chromosome location: 6p24.1
• Summary: This gene encodes a member of the TBC-domain containing protein family. The encoded protein functions as a subunit of the tuberous sclerosis TSC1-TSC2 complex which plays a role in the regulation of cellular growth and differentiation. Mutations in this g

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT726364	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT726362	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT726363	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT726361	hsa-miR-181d-5p	HITS-CLIP	22473208

Gene ontology (GO)

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

Other IDs

• MIM: 612655
• HGNC: 21066
• e!Ensembl: ENSG00000145979

Protein

• UniProt ID: Q9P0N9
• Protein name: TBC1 domain family member 7 (Cell migration-inducing protein 23)
• Protein function: Non-catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule bi
• PDB: 3QWL, 4Z6Y, 5EJC, 5ULO, 7DL2, 9CE3
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00566	RabGAP-TBC	133 → 251	Rab-GTPase-TBC domain	Family

• Tissue specificity: TISSUE SPECIFICITY: Highly expressed in heart, and slightly in kidney, liver and placenta. {ECO:0000269|PubMed:17658474}.
• Sequence:

  MTEDSQRNFRSVYYEKVGFRGVEEKKSLEILLKDDRLDTEKLCTFSQRFPLPSMYRALVW
  KVLLGILPPHHESHAKVMMYRKEQYLDVLHALKVVRFVSDATPQAEVYLRMYQLESGKLP
  RSPSFPLEPDDEVFLAIAKAMEEMVEDSVDCYWITRRFVNQLNTKYRDSLPQLPKAFEQY
  LNLEDGRLLTHLRMCSAAPKLPYDLWFKRCFAGCLPESSLQRVWDKVVSGSCKILVFVAV
  EILLTFKIKVMALNSAEKITKFLENIPQDSSDAIVSKAIDLWHKHCGTPVHSS

• Sequence length: 293

Pathways

KEGG:

mTOR signaling pathway

Reactome:

TBC/RABGAPs

Associated diseases

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Macrocephaly/megalencephaly syndrome, autosomal recessive	Pathogenic	rs587777652, rs758759342, rs483352922	RCV000133541 RCV003994474 RCV000074505	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARDIOVASCULAR DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	CTD, GWAS catalog CTD, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TBC1D7-related disorder	Likely benign; Benign; Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	39231952, 40597935	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	20095038		★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	24515783		★☆☆☆☆ Found in Text Mining only
Class III malocclusion	Malocclusion	HPO_DG			★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★☆☆☆☆ Found in Text Mining only
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70	Epileptic encephalopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	23687350, 24515783, 24714658		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	GENOMICS_ENGLAND_DG	24515783		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	24714658, 26893383	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Isolated megalencephaly	Isolated Megalencephaly	Orphanet			★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	BEFREE	23687350, 24515783		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	ORPHANET_DG	23687350		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	GENOMICS_ENGLAND_DG	24515783		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Macrocephaly	Macrocephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of lung	Lung Cancer	BEFREE	20095038		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	32510182	Stimulate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	20095038		★☆☆☆☆ Found in Text Mining only
Non-Small Cell Lung Carcinoma	Lung carcinoma	BEFREE	20095038		★☆☆☆☆ Found in Text Mining only
Optic Atrophy	Optic Atrophy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Scaphycephaly	Scaphocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	39231952	Associate	★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous Sclerosis	BEFREE	23687350, 29187524, 30143532		★☆☆☆☆ Found in Text Mining only
Tuberous Sclerosis	Tuberous sclerosis complex	Pubtator	26893383	Associate	★☆☆☆☆ Found in Text Mining only