TBC1D7 (TBC1 domain family member 7)

2010-06-01  

Identity

HGNC
TBC1D7
LOCATION
6p24.1
LOCUSID
51256
ALIAS
MGCPH,PIG51,TBC7
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51256
MIM: 612655
HGNC: 21066
Ensembl: ENSG00000145979

Variants:

dbSNP: 51256
ClinVar: 51256
TCGA: ENSG00000145979
COSMIC: TBC1D7

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000145979ENST00000343141Q9P0N9
ENSG00000145979ENST00000356436Q9P0N9
ENSG00000145979ENST00000356436A0A024QZX0
ENSG00000145979ENST00000379291Q5SZL8
ENSG00000145979ENST00000379300Q9P0N9
ENSG00000145979ENST00000379300A0A024QZX0
ENSG00000145979ENST00000379307Q9P0N9
ENSG00000145979ENST00000379307A0A024R011
ENSG00000145979ENST00000416436Q5SZM2
ENSG00000145979ENST00000420456Q5SZL3
ENSG00000145979ENST00000421203B4DK47
ENSG00000145979ENST00000422136Q5SZL4
ENSG00000145979ENST00000428109Q5SZM1
ENSG00000145979ENST00000446018Q5SZL5
ENSG00000145979ENST00000450347Q5SZL6
ENSG00000145979ENST00000452989Q5SZL6
ENSG00000145979ENST00000606214Q9P0N9
ENSG00000145979ENST00000606214A0A024QZX0
ENSG00000145979ENST00000606370U3KPY5
ENSG00000145979ENST00000606530U3KQ23
ENSG00000145979ENST00000606541U3KQD8
ENSG00000145979ENST00000607230U3KQQ0
ENSG00000145979ENST00000607658U3KPS8

Expression (GTEx)

0
1
2
3
4
5
6
7
8
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
mTOR signaling pathwayKEGGko04150
mTOR signaling pathwayKEGGhsa04150
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TBC/RABGAPsREACTOMER-HSA-8854214

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
327483492021KIF2C: a novel link between Wnt/β-catenin and mTORC1 signaling in the pathogenesis of hepatocellular carcinoma.56
327483492021KIF2C: a novel link between Wnt/β-catenin and mTORC1 signaling in the pathogenesis of hepatocellular carcinoma.56
325101822020Discovery of TBC1D7 as a Potential Driver for Melanoma Cell Invasion.5
325101822020Discovery of TBC1D7 as a Potential Driver for Melanoma Cell Invasion.5
301435322018The tuberous sclerosis complex subunit TBC1D7 is stabilized by Akt phosphorylation-mediated 14-3-3 binding.4
301435322018The tuberous sclerosis complex subunit TBC1D7 is stabilized by Akt phosphorylation-mediated 14-3-3 binding.4
268933832016Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).13
268933832016Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).13
245157832014TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.33
245157832014TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.33
236873502013Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.24
236873502013Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.24
227951292012TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.320
227951292012TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.320
200950382010Activation of an oncogenic TBC1D7 (TBC1 domain family, member 7) protein in pulmonary carcinogenesis.20

Citation

Dessen P

TBC1D7 (TBC1 domain family member 7)

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/gene/51525/tumors-explorer/gene-fusions-explorer/