TMEM175 (transmembrane protein 175)

2016-10-01  

Identity

HGNC
TMEM175
LOCATION
4p16.3
LOCUSID
84286
ALIAS
hTMEM175
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

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

Variants:

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

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000127419ENST00000264771Q9BSA9
ENSG00000127419ENST00000504744D6RCD9
ENSG00000127419ENST00000507319D6RAU7
ENSG00000127419ENST00000508204D3DVN5
ENSG00000127419ENST00000509508D6RAJ5
ENSG00000127419ENST00000510493D6RBE5
ENSG00000127419ENST00000513682D6RHV8
ENSG00000127419ENST00000513952D6RCD9
ENSG00000127419ENST00000514453D6RDY8
ENSG00000127419ENST00000514546D6RIZ2
ENSG00000127419ENST00000515492E7ETE6
ENSG00000127419ENST00000515740Q9BSA9
ENSG00000127419ENST00000622959Q9BSA9

Expression (GTEx)

0
50
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
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
281938872017TMEM175 deficiency impairs lysosomal and mitochondrial function and increases α-synuclein aggregation.28
259142932015Impact of Parkinson's disease risk loci on age at onset.12
287238912017The lysosomal potassium channel TMEM175 adopts a novel tetrameric architecture.8
312613872019Functionalization of the TMEM175 p.M393T variant as a risk factor for Parkinson disease.5
316584032020Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.2

Citation

Dessen P

TMEM175 (transmembrane protein 175)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56000/tmem175