TBC1D14 (TBC1 domain family member 14)

2014-08-01  

Identity

HGNC
TBC1D14
LOCATION
4p16.1
LOCUSID
57533
ALIAS
-
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57533
MIM: 614855
HGNC: 29246
Ensembl: ENSG00000132405

Variants:

dbSNP: 57533
ClinVar: 57533
TCGA: ENSG00000132405
COSMIC: TBC1D14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000132405ENST00000409757Q9P2M4
ENSG00000132405ENST00000410031B9A071
ENSG00000132405ENST00000427736C9J541
ENSG00000132405ENST00000439515H7BZD7
ENSG00000132405ENST00000444368C9JP26
ENSG00000132405ENST00000446947F5GXK4
ENSG00000132405ENST00000448507Q9P2M4
ENSG00000132405ENST00000451522Q9P2M4

Expression (GTEx)

0
5
10
15
20
25
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
226138322012TBC1D14 regulates autophagosome formation via Rab11- and ULK1-positive recycling endosomes.140
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
267111782016TBC1D14 regulates autophagy via the TRAPP complex and ATG9 traffic.61
181864642008First crystallographic models of human TBC domains in the context of a family-wide structural analysis.7

Citation

Dessen P

TBC1D14 (TBC1 domain family member 14)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54688/tbc1d14