TMEM240 (transmembrane protein 240)

2014-11-01  

Identity

HGNC
TMEM240
LOCATION
1p36.33
LOCUSID
339453
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
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
151481512004Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.19
124022692002A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1.0
250705132014TMEM240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment.0
305229582019The movement disorder spectrum of SCA21 (ATX-TMEM240): 3 novel families and systematic review of the literature.0

Citation

Dessen P

TMEM240 (transmembrane protein 240)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74904/tmem240