TMEM165 (transmembrane protein 165)

2018-12-01  

Identity

HGNC
LOCATION
4q12
LOCUSID
ALIAS
CDG2K,FT27,GDT1,SLC64A1,TMPT27,TPARL
FUSION GENES

Other Information

Locus ID:

NCBI: 55858
MIM: 614726
HGNC: 30760
Ensembl: ENSG00000134851

Variants:

dbSNP: 55858
ClinVar: 55858
TCGA: ENSG00000134851
COSMIC: TMEM165

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134851ENST00000381334Q9HC07
ENSG00000134851ENST00000506103V9GYC8
ENSG00000134851ENST00000506198D6RD79
ENSG00000134851ENST00000508404D6RBL0
ENSG00000134851ENST00000608091V9GY93

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
226830872012TMEM165 deficiency causes a congenital disorder of glycosylation.56
235692832013Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells.43
270088842016Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.26
235752292013Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II.19
274011452017TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.13
282705452017Manganese-induced turnover of TMEM165.13
247204192015Antisense-mediated therapeutic pseudoexon skipping in TMEM165-CDG.5
313510902019Dissection of TMEM165 function in Golgi glycosylation and its Mn2+ sensitivity.4
280885032017Evidence for splice transcript variants of TMEM165, a gene involved in CDG.3
300158982018TMEM165, a Golgi transmembrane protein, is a novel marker for hepatocellular carcinoma and its depletion impairs invasion activity.3

Citation

Dessen P

TMEM165 (transmembrane protein 165)

Atlas Genet Cytogenet Oncol Haematol. 2018-12-01

Online version: http://atlasgeneticsoncology.org/gene/57768/tmem165