Gene
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
Disease Acronyms (UniProt) Disease acronyms from UniProt database
MGCPH
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.
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.
GO ID Ontology Definition Evidence Reference
GO:0005096 Function GTPase activator activity IBA 21873635
GO:0005096 Function GTPase activator activity IDA 17646400
GO:0005515 Function Protein binding IPI 17658474, 22354992, 25416956, 27107012, 31515488, 32296183
GO:0005829 Component Cytosol TAS
GO:0031267 Function Small GTPase binding IPI 17646400
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612655 21066 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
EILLTFKIKVM
ALNSAEKITKFLENIPQDSSDAIVSKAIDLWHKHCGTPVHSS
Sequence length 293
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG   Reactome
  mTOR signaling pathway   TBC/RABGAPs
Associated diseases Disease information provided by ClinVar, GenCC, and GWAS databases.
Causal
Disease term Disease name dbSNP ID References
Developmental delay Global developmental delay rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291
View all (32 more)
Epileptic encephalopathy EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 70 rs587776508, rs121918334, rs121918317, rs121918321, rs74315390, rs28939684, rs74315391, rs74315392, rs118192244, rs121918622, rs121918623, rs121917953, rs121917955, rs121918624, rs121918625
View all (860 more)
Macrocephaly Macrocephaly rs786204854, rs764333096, rs1557739557 23687350, 24515783
Mental retardation Intellectual Disability rs5742905, rs267607136, rs267607137, rs2131714307, rs267607038, rs267607042, rs80338685, rs137853127, rs80338815, rs28940893, rs387906309, rs121908096, rs121908099, rs587784365, rs121918315
View all (1024 more)
24515783
Unknown
Disease term Disease name Evidence References Source
Mental depression Depressive disorder ClinVar
Coronary artery disease Coronary artery disease GWAS
Associations from Text Mining
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