TBC1D7 (TBC1 domain family member 7)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51256
Gene name Gene Name - the full gene name approved by the HGNC.
TBC1 domain family member 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TBC1D7
Synonyms (NCBI Gene) Gene synonyms aliases
MGCPH, PIG51, TBC7
Chromosome Chromosome number
6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
6p24.1
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
612655 21066 ENSG00000145979
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Coronary artery disease Coronary artery disease N/A N/A GWAS
Macrocephaly macrocephaly, macrocephaly/megalencephaly syndrome, autosomal recessive N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (7)
Associations from Text Mining Disease 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