TMEM240 (transmembrane protein 240)

2014-11-01  

Identity

HGNC
LOCATION
1p36.33
LOCUSID
ALIAS
C1orf70,SCA21

Other Information

Locus ID:

NCBI: 339453
MIM: 616101
HGNC: 25186
Ensembl: ENSG00000205090

Variants:

dbSNP: 339453
ClinVar: 339453
TCGA: ENSG00000205090
COSMIC: TMEM240

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000205090ENST00000378733Q5SV17
ENSG00000205090ENST00000425828Q5SV17
ENSG00000205090ENST00000624426A0A096LNN7

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
386178292024Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.0
386178292024Myoclonus and Dystonia as Recurrent Presenting Features in Patients with the SCA21-Associated TMEM240 p.Pro170Leu Variant.0
357157412022Hypermethylation of TMEM240 predicts poor hormone therapy response and disease progression in breast cancer.4
357157412022Hypermethylation of TMEM240 predicts poor hormone therapy response and disease progression in breast cancer.4
320028012020The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.2
323980642020Hypermethylation and decreased expression of TMEM240 are potential early-onset biomarkers for colorectal cancer detection, poor prognosis, and early recurrence prediction.12
325352042020Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body.0
320028012020The TMEM240 Protein, Mutated in SCA21, Is Expressed in Purkinje Cells and Synaptic Terminals.2
323980642020Hypermethylation and decreased expression of TMEM240 are potential early-onset biomarkers for colorectal cancer detection, poor prognosis, and early recurrence prediction.12
325352042020Neural-specific distribution of transmembrane protein TMEM240 and formation of TMEM240-Body.0
305229582019The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.9
305229582019The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.9
250705132014TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.21
250705132014TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.21
151481512004Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.25

Citation

Dessen P

TMEM240 (transmembrane protein 240)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74904/tmem240-(transmembrane-protein-240)