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
227951292012TBC1D7 is a third subunit of the TSC1-TSC2 complex upstream of mTORC1.204
245157832014TBC1D7 mutations are associated with intellectual disability, macrocrania, patellar dislocation, and celiac disease.17
200950382010Activation of an oncogenic TBC1D7 (TBC1 domain family, member 7) protein in pulmonary carcinogenesis.13
236873502013Disruption of TBC1D7, a subunit of the TSC1-TSC2 protein complex, in intellectual disability and megalencephaly.13
268933832016Structural Basis of the Interaction between Tuberous Sclerosis Complex 1 (TSC1) and Tre2-Bub2-Cdc16 Domain Family Member 7 (TBC1D7).5
301435322018The tuberous sclerosis complex subunit TBC1D7 is stabilized by Akt phosphorylation-mediated 14-3-3 binding.1

Citation

Dessen P

TBC1D7 (TBC1 domain family member 7)

Atlas Genet Cytogenet Oncol Haematol. 2010-06-01

Online version: http://atlasgeneticsoncology.org/gene/51525/tbc1d7