MTMR14 (myotubularin related protein 14)

2014-08-01  

Identity

HGNC
MTMR14
LOCATION
3p25.3
LOCUSID
64419
ALIAS
C3orf29
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 64419
MIM: 611089
HGNC: 26190
Ensembl: ENSG00000163719

Variants:

dbSNP: 64419
ClinVar: 64419
TCGA: ENSG00000163719
COSMIC: MTMR14

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000163719ENST00000296003Q8NCE2
ENSG00000163719ENST00000351233Q8NCE2
ENSG00000163719ENST00000353332Q8NCE2
ENSG00000163719ENST00000414996F8WCG0
ENSG00000163719ENST00000416864F8WCC0
ENSG00000163719ENST00000420925C9JSR1
ENSG00000163719ENST00000430020B4DJ23
ENSG00000163719ENST00000431250C9JR61
ENSG00000163719ENST00000437997F8WEA3
ENSG00000163719ENST00000447144B4DQK9
ENSG00000163719ENST00000449543F8WBT3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
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
Inositol phosphate metabolismKEGGko00562
Phosphatidylinositol signaling systemKEGGko04070
Autophagy - animalKEGGko04140
Inositol phosphate metabolismKEGGhsa00562
Phosphatidylinositol signaling systemKEGGhsa04070
Autophagy - animalKEGGhsa04140
Metabolic pathwaysKEGGhsa01100
MetabolismREACTOMER-HSA-1430728
Metabolism of lipids and lipoproteinsREACTOMER-HSA-556833
Phospholipid metabolismREACTOMER-HSA-1483257
PI MetabolismREACTOMER-HSA-1483255
Synthesis of PIPs at the plasma membraneREACTOMER-HSA-1660499
Cellular responses to stressREACTOMER-HSA-2262752
MacroautophagyREACTOMER-HSA-1632852

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
195904962009Control of autophagy initiation by phosphoinositide 3-phosphatase Jumpy.103
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
170083562006A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.41
170083562006A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy.41
205958102010The role of MTMR14 in autophagy and in muscle disease.7
305866042019Knockdown MTMR14 promotes cell apoptosis and inhibits migration in liver cancer cells.2

Citation

Dessen P

MTMR14 (myotubularin related protein 14)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54478/mtmr14