TMEM175 (transmembrane protein 175)

2016-10-01 Affiliation

Identity

HGNC

TMEM175

LOCATION

4p16.3

LOCUSID

84286

ALIAS

hTMEM175

FUSION GENES

Show Gene Fusions

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 84286
MIM: 616660
HGNC: 28709
Ensembl: ENSG00000127419

Variants:

dbSNP: 84286
ClinVar: 84286
TCGA: ENSG00000127419
COSMIC: TMEM175

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000127419	ENST00000264771	Q9BSA9
ENSG00000127419	ENST00000504744	D6RCD9
ENSG00000127419	ENST00000507319	D6RAU7
ENSG00000127419	ENST00000508204	D3DVN5
ENSG00000127419	ENST00000509508	D6RAJ5
ENSG00000127419	ENST00000510493	D6RBE5
ENSG00000127419	ENST00000513682	D6RHV8
ENSG00000127419	ENST00000513952	D6RCD9
ENSG00000127419	ENST00000514453	D6RDY8
ENSG00000127419	ENST00000514546	D6RIZ2
ENSG00000127419	ENST00000515492	E7ETE6
ENSG00000127419	ENST00000515740	Q9BSA9
ENSG00000127419	ENST00000622959	Q9BSA9

Expression (GTEx)

100

150

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

References

Pubmed ID	Year	Title	Citations
37390818	2023	Lysosomal LAMP proteins regulate lysosomal pH by direct inhibition of the TMEM175 channel.	13
37390818	2023	Lysosomal LAMP proteins regulate lysosomal pH by direct inhibition of the TMEM175 channel.	13
33505021	2021	A growth-factor-activated lysosomal K(+) channel regulates Parkinson's pathology.	38
33505021	2021	A growth-factor-activated lysosomal K(+) channel regulates Parkinson's pathology.	38
31658403	2020	Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.	36
32228865	2020	Gating and selectivity mechanisms for the lysosomal K(+) channel TMEM175.	17
31658403	2020	Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.	36
32228865	2020	Gating and selectivity mechanisms for the lysosomal K(+) channel TMEM175.	17
31261387	2019	Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease.	36
31261387	2019	Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease.	36
28193887	2017	TMEM175 deficiency impairs lysosomal and mitochondrial function and increases α-synuclein aggregation.	108
28723891	2017	The lysosomal potassium channel TMEM175 adopts a novel tetrameric architecture.	35
28193887	2017	TMEM175 deficiency impairs lysosomal and mitochondrial function and increases α-synuclein aggregation.	108
28723891	2017	The lysosomal potassium channel TMEM175 adopts a novel tetrameric architecture.	35
25914293	2015	Impact of Parkinson's disease risk loci on age at onset.	20

Citation

Dessen P

TMEM175 (transmembrane protein 175)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56000/tmem175-(transmembrane-protein-175)