TMEM230 (transmembrane protein 230)

2014-11-01  

Identity

HGNC
TMEM230
LOCATION
20p13
LOCUSID
29058
ALIAS
C20orf30,HSPC274,dJ1116H23.2.1
FUSION GENES
Show Gene Fusions

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
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
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383872572024Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals.0
386127772024Transmembrane Protein TMEM230, Regulator of Glial Cell Vascular Mimicry and Endothelial Cell Angiogenesis in High-Grade Heterogeneous Infiltrating Gliomas and Glioblastoma.0
389604772024Transmembrane protein TMEM230, regulator of metalloproteins and motor proteins in gliomas and gliosis.0
383872572024Loci on chromosome 20 interact with rs16969968 to influence cigarettes per day in European ancestry individuals.0
386127772024Transmembrane Protein TMEM230, Regulator of Glial Cell Vascular Mimicry and Endothelial Cell Angiogenesis in High-Grade Heterogeneous Infiltrating Gliomas and Glioblastoma.0
389604772024Transmembrane protein TMEM230, regulator of metalloproteins and motor proteins in gliomas and gliosis.0
332122192021Controversy of TMEM230 Associated with Parkinson's Disease.7
332122192021Controversy of TMEM230 Associated with Parkinson's Disease.7
313235172019Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy.0
313235172019Analysis of the TMEM230 gene in familial Parkinson's disease from south Italy.0
284556982018TMEM230 Mutations Are Rare in Han Chinese Patients with Autosomal Dominant Parkinson's Disease.4
293050832018Genetic analysis of TMEM230 in Japanese patients with familial Parkinson's disease.5
297719392018TMEM230 in Parkinson's disease in a southern Spanish population.2
300562002018Analysis of the TMEM230 gene in patients with multiple system atrophy.1
284556982018TMEM230 Mutations Are Rare in Han Chinese Patients with Autosomal Dominant 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-(transmembrane-protein-230)