TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3)

2014-11-01  

Identity

HGNC
TMTC3
LOCATION
12q21.32
LOCUSID
160418
ALIAS
LIS8,SMILE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 160418
MIM: 617218
HGNC: 26899
Ensembl: ENSG00000139324

Variants:

dbSNP: 160418
ClinVar: 160418
TCGA: ENSG00000139324
COSMIC: TMTC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139324ENST00000266712Q6ZXV5
ENSG00000139324ENST00000547034F8VRY4
ENSG00000139324ENST00000549011F8W044
ENSG00000139324ENST00000551088F8VR71

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

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
359829012022A Novel ER Stress Mediator TMTC3 Promotes Squamous Cell Carcinoma Progression by Activating GRP78/PERK Signaling Pathway.7
359829012022A Novel ER Stress Mediator TMTC3 Promotes Squamous Cell Carcinoma Progression by Activating GRP78/PERK Signaling Pathway.7
334360462021Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.9
347947382021The deep infiltrating endometriosis tissue has lower T-cadherin, E-cadherin, progesterone receptor and oestrogen receptor than endometrioma tissue.3
334360462021Conserved sequence motifs in human TMTC1, TMTC2, TMTC3, and TMTC4, new O-mannosyltransferases from the GT-C/PMT clan, are rationalized as ligand binding sites.9
347947382021The deep infiltrating endometriosis tissue has lower T-cadherin, E-cadherin, progesterone receptor and oestrogen receptor than endometrioma tissue.3
289739322017Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.48
289739322017Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.48
219568702012mSmile is necessary for bronchial smooth muscle and alveolar myofibroblast development.9
219568702012mSmile is necessary for bronchial smooth muscle and alveolar myofibroblast development.9
216036542011The involvement of SMILE/TMTC3 in endoplasmic reticulum stress response.23
216036542011The involvement of SMILE/TMTC3 in endoplasmic reticulum stress response.23

Citation

Dessen P

TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/75023