TMEM230 (transmembrane protein 230)

2014-11-01  

Identity

HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf30,HSPC274,dJ1116H23.2.1
FUSION GENES

Other Information

Locus ID:

NCBI: 29058
MIM: 617019
HGNC: 15876
Ensembl: ENSG00000089063

Variants:

dbSNP: 29058
ClinVar: 29058
TCGA: ENSG00000089063
COSMIC: TMEM230

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000089063ENST00000202834Q96A57
ENSG00000089063ENST00000342308Q96A57
ENSG00000089063ENST00000379276Q5JWB9
ENSG00000089063ENST00000379277Q96A57
ENSG00000089063ENST00000379279Q96A57
ENSG00000089063ENST00000379283Q96A57
ENSG00000089063ENST00000379286Q96A57
ENSG00000089063ENST00000379299Q96A57
ENSG00000089063ENST00000612323A0A087WTT2
ENSG00000089063ENST00000615008A0A087WTT2

Expression (GTEx)

0
50
100
150

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
272701082016Identification of TMEM230 mutations in familial Parkinson's disease.34
281154172017The Parkinson's disease-linked protein TMEM230 is required for Rab8a-mediated secretory vesicle trafficking and retromer trafficking.16
278149952017TMEM230 mutation analysis in Parkinson's disease in a Chinese population.9
278180002017Lack of evidence for a role of genetic variation in TMEM230 in the risk for Parkinson's disease in the Caucasian population.9
278693222017TMEM230 stop codon mutation is rare in parkinson's disease and essential tremor in eastern China.6
280388662017Genetic analysis of the TMEM230 gene in Chinese patients with familial Parkinson disease.6
210480312011Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph.5
280906762017Mutations in TMEM230 are not a common cause of Parkinson's disease.5
283189862017Mutations in TMEM230 are rare in autosomal dominant Parkinson's disease.4
284467602017Genetic analysis of the TMEM230 gene in Chinese Han patients with Parkinson's disease.4

Citation

Dessen P

TMEM230 (transmembrane protein 230)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74894/tmem230