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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TMEM165
transmembrane protein 165
Chromosome 4 Β· 4q12
NCBI Gene: 55858Ensembl: ENSG00000134851.14HGNC: HGNC:30760UniProt: Q9HC07
89PubMed Papers
21Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
calcium ion transportmanganese ion transportGolgi apparatusendosome membraneTMEM165-congenital disorder of glycosylationcongenital disorder of glycosylationplacenta praeviahypertension
✦AI Summary

TMEM165 is a divalent cation:proton antiporter localized to the Golgi and lysosomal membranes that mediates bidirectional transport of calcium and manganese ions 1. The protein functions as a Ca2+/Mn2+:H+ antiporter, pumping metal ions into organellar lumens while extruding protons, driven by the proton gradient and membrane potential 2. This transport activity supplies essential cofactors to resident glycosylation enzymes and maintains proper luminal pH for secretory pathway function 1. At the Golgi, TMEM165 is critical for N- and O-glycosylation and lipid glycosylation by maintaining sufficient manganese availability for glycosyltransferase activity 1. Manganese insufficiency in TMEM165-deficient cells causes glycosylation defects that can be rescued by manganese supplementation, identifying Golgi Mn2+ homeostasis as central to its function 3. Recently, lysosomal TMEM165 was identified as a proton-activated calcium importer essential for lysosomal calcium refilling and cellular ion homeostasis 4, promoting calcium-induced proton leakage and enhancing cell survival during calcium overload 5. Mutations in TMEM165 cause Congenital Disorder of Glycosylation 2K, with disease-causing variants showing reduced transport activity 2. Beyond glycosylation disease, TMEM165 overexpression promotes glioblastoma progression through epithelial-mesenchymal transition and chemoresistance 6, establishing its role in cancer pathophysiology.

Sources cited
1
TMEM165 acts as a Ca2+/Mn2+:H+ antiporter in the Golgi; disruption causes N- and O-glycosylation and lipid glycosylation defects due to Mn2+ insufficiency; involved in CDG and other pathologies including cancer
PMID: 39002685
2
Direct biochemical evidence that TMEM165 mediates Ca2+ and Mn2+ influx; disease-causing E108G mutation reduces TMEM165 activity; both metal ions required for proper protein glycosylation
PMID: 32047108
3
Human TMEM165 (LCI) acts as a proton-activated, lysosomal Ca2+ importer; facilitates lysosomal calcium entry pH-dependently
PMID: 38354239
4
Lysosomal TMEM165 imports calcium to lumen and mediates calcium-induced lysosomal proton leakage; essential for intracellular ion homeostasis and cell survival during cytosolic calcium overload
PMID: 40473625
5
TMEM165 is essential for secretory pathway/organellar Mn homeostasis; Mn supplementation rescues glycosylation defects in TMEM165-depleted cells; TMEM165 and SPCA1 regulate cellular Mn detoxification
PMID: 37062452
6
High TMEM165 expression associates with poor glioma prognosis, higher tumor grade, and temozolomide chemoresistance; promotes glioblastoma progression through EMT pathway activation
PMID: 41308767
Disease Associationsβ“˜21
TMEM165-congenital disorder of glycosylationOpen Targets
0.81Strong
congenital disorder of glycosylationOpen Targets
0.60Moderate
placenta praeviaOpen Targets
0.31Weak
hypertensionOpen Targets
0.17Weak
essential hypertensionOpen Targets
0.16Weak
osteoarthritis, kneeOpen Targets
0.16Weak
Aganglionic megacolonOpen Targets
0.11Weak
Hirschsprung diseaseOpen Targets
0.11Weak
hepatocellular carcinomaOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.07Suggestive
Fuchs endothelial corneal dystrophyOpen Targets
0.07Suggestive
Familial ocular anterior segment mesenchymal dysgenesisOpen Targets
0.07Suggestive
posterior polymorphous corneal dystrophyOpen Targets
0.06Suggestive
Cataract-microcornea syndromeOpen Targets
0.06Suggestive
X-linked endothelial corneal dystrophyOpen Targets
0.06Suggestive
Peters anomalyOpen Targets
0.06Suggestive
granular corneal dystrophy type IOpen Targets
0.06Suggestive
Persistent pupillary membraneOpen Targets
0.05Suggestive
lattice corneal dystrophy type IOpen Targets
0.05Suggestive
congenital hereditary endothelial dystrophy of corneaOpen Targets
0.05Suggestive
Congenital disorder of glycosylation 2KUniProt
Pathogenic Variants5
NM_018475.5(TMEM165):c.747G>A (p.Trp249Ter)Pathogenic
TMEM165-congenital disorder of glycosylation
β˜…β˜†β˜†β˜†2023β†’ Residue 249
NM_018475.5(TMEM165):c.151C>T (p.Gln51Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2017β†’ Residue 51
NM_018475.5(TMEM165):c.792+182G>APathogenic
TMEM165-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2012
NM_018475.5(TMEM165):c.377G>A (p.Arg126His)Pathogenic
TMEM165-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2012β†’ Residue 126
NM_018475.5(TMEM165):c.910G>A (p.Gly304Arg)Pathogenic
TMEM165-congenital disorder of glycosylation
β˜†β˜†β˜†β˜†2012β†’ Residue 304
View on ClinVar β†—
Related Genes
ATP2C2Shared pathway80%ATP2C1Protein interaction60%CACNA2D3Shared pathway40%CACNG6Shared pathway40%CACNG1Shared pathway33%CACNB1Shared pathway25%
Tissue Expression6 tissues
Lung
100%
Brain
78%
Ovary
46%
Heart
45%
Bone Marrow
36%
Liver
25%
Gene Interaction Network
Click a node to explore
TMEM165ATP2C2ATP2C1CACNA2D3CACNG6CACNG1CACNB1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9HC07
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.07LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.71 [0.48–1.07]
RankingsWhere TMEM165 stands among ~20K protein-coding genes
  • #5,387of 20,598
    Most Researched89
  • #3,532of 5,498
    Most Pathogenic Variants5
  • #10,816of 17,882
    Most Constrained (LOEUF)1.07
Genes detectedTMEM165
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Insights into molecular and cellular functions of the Golgi calcium/manganese-proton antiporter TMEM165.
PMID: 39002685
J Biol Chem Β· 2024
1.00
2
The human Golgi protein TMEM165 transports calcium and manganese in yeast and bacterial cells.
PMID: 32047108
J Biol Chem Β· 2020
0.90
3
A mechanism of lysosomal calcium entry.
PMID: 38354239
Sci Adv Β· 2024
0.80
4
Lysosomal TMEM165 controls cellular ion homeostasis and survival by mediating lysosomal Ca
PMID: 40473625
Nat Commun Β· 2025
0.70
5
TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis.
PMID: 27401145
Tissue Cell Β· 2017
0.60