TBC1D7 (TBC1 domain family member 7)

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 51256
Gene name TBC1 domain family member 7
Gene symbol TBC1D7
Synonyms (NCBI Gene)
MGCPHPIG51TBC7
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 miRNA information provided by mirtarbase database.
4
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (4)
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) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
31
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (31)
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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612655 21066 ENSG00000145979
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  mTOR signaling pathway   TBC/RABGAPs
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Macrocephaly/megalencephaly syndrome, autosomal recessive Pathogenic rs587777652, rs758759342, rs483352922 RCV000133541
RCV003994474
RCV000074505
Show/Hide Unknown Diseases (9)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Cervical cancer Benign rs113735499 RCV005911344
Cholangiocarcinoma Benign rs2439538, rs3816209 RCV005914823
RCV005917050
Gastric cancer Uncertain significance rs189470085 RCV005939250
Hepatocellular carcinoma Benign rs2439537 RCV005923728
Show/Hide Text Mining Associations (7)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 39231952, 40597935
Intellectual Disability Associate 24714658, 26893383
Melanoma Stimulate 32510182
Neoplasm Invasiveness Stimulate 32510182
Neoplasm Metastasis Associate 32510182
Triple Negative Breast Neoplasms Associate 39231952
Tuberous Sclerosis Associate 26893383