TMTC3 (transmembrane O-mannosyltransferase targeting cadherins 3)

2014-11-01  

Identity

HGNC
LOCATION
12q21.32
LOCUSID
ALIAS
LIS8,SMILE
FUSION GENES

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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
289739322017Discovery of an O-mannosylation pathway selectively serving cadherins and protocadherins.14
216036542011The involvement of SMILE/TMTC3 in endoplasmic reticulum stress response.11
219568702012mSmile is necessary for bronchial smooth muscle and alveolar myofibroblast development.3

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/tmtc3