TBC1D10A (TBC1 domain family member 10A)

2016-10-01  

Identity

HGNC
TBC1D10A
LOCATION
22q12.2
LOCUSID
83874
ALIAS
EPI64,TBC1D10,dJ130H16.1,dJ130H16.2
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 83874
MIM: 610020
HGNC: 23609
Ensembl: ENSG00000099992

Variants:

dbSNP: 83874
ClinVar: 83874
TCGA: ENSG00000099992
COSMIC: TBC1D10A

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000099992ENST00000215790Q9BXI6
ENSG00000099992ENST00000393906F8W9Y7
ENSG00000099992ENST00000403362B5MD46
ENSG00000099992ENST00000403477Q9BXI6
ENSG00000099992ENST00000433426F8WCD1
ENSG00000099992ENST00000437122F8WDN6

Expression (GTEx)

0
10
20
30
40
50
60
70
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
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
bronchus
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
347578522022The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (†).0
347578522022The RabGAPs EPI64A and EPI64B regulate the apical structure of epithelial cells (†).0
315277502019Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins.14
315277502019Regulation of VEGFR2 trafficking and signaling by Rab GTPase-activating proteins.14
285662862017Rab35 protein regulates evoked exocytosis of endothelial Weibel-Palade bodies.21
285662862017Rab35 protein regulates evoked exocytosis of endothelial Weibel-Palade bodies.21
246736042014Rab27A regulates exosome secretion from lung adenocarcinoma cells A549: involvement of EPI64.35
246736042014Rab27A regulates exosome secretion from lung adenocarcinoma cells A549: involvement of EPI64.35
232482412013All members of the EPI64 subfamily of TBC/RabGAPs also have GAP activities towards Ras.6
232482412013All members of the EPI64 subfamily of TBC/RabGAPs also have GAP activities towards Ras.6
222193782012EPI64 interacts with Slp1/JFC1 to coordinate Rab8a and Arf6 membrane trafficking.18
222193782012EPI64 interacts with Slp1/JFC1 to coordinate Rab8a and Arf6 membrane trafficking.18
203600092010Recycling of the Ca2+-activated K+ channel, KCa2.3, is dependent upon RME-1, Rab35/EPI64C, and an N-terminal domain.38
203600092010Recycling of the Ca2+-activated K+ channel, KCa2.3, is dependent upon RME-1, Rab35/EPI64C, and an N-terminal domain.38
184507572008Rab35 and its GAP EPI64C in T cells regulate receptor recycling and immunological synapse formation.80

Citation

Dessen P

TBC1D10A (TBC1 domain family member 10A)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56475/tbc1d10a-(tbc1-domain-family-member-10a)