TMCO1 (transmembrane and coiled-coil domains 1)

2018-11-01  

Identity

HGNC
LOCATION
1q24.1
LOCUSID
ALIAS
HP10122,PCIA3,PNAS-136,TMCC4
FUSION GENES

Other Information

Locus ID:

NCBI: 54499
MIM: 614123
HGNC: 18188
Ensembl: ENSG00000143183

Variants:

dbSNP: 54499
ClinVar: 54499
TCGA: ENSG00000143183
COSMIC: TMCO1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000143183ENST00000367881Q9UM00
ENSG00000143183ENST00000392129Q9UM00
ENSG00000143183ENST00000464650J3QQY2
ENSG00000143183ENST00000465705J3KTQ7
ENSG00000143183ENST00000476143J3QRB3
ENSG00000143183ENST00000481278J3KS45
ENSG00000143183ENST00000580248J3QQY2
ENSG00000143183ENST00000612311Q9UM00
ENSG00000143183ENST00000628579J3KTQ7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

References

Pubmed IDYearTitleCitations
383721072024TMCO1 regulates cell proliferation, metastasis and EMT signaling through CALR, promoting ovarian cancer progression and cisplatin resistance.0
383721072024TMCO1 regulates cell proliferation, metastasis and EMT signaling through CALR, promoting ovarian cancer progression and cisplatin resistance.0
367088762023Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.0
375276602023Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer.7
367088762023Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome-1 in two new patients with the same homozygous TMCO1 variant and review of the literature.0
375276602023Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer.7
351216592022iASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca(2+) homeostasis and control tumor growth and drug resistance.3
351216592022iASPP suppresses Gp78-mediated TMCO1 degradation to maintain Ca(2+) homeostasis and control tumor growth and drug resistance.3
305562562019Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.4
308626182019SNP located in an AluJb repeat downstream of TMCO1, rs4657473, is protective for POAG in African Americans.6
309267622019Long non-coding RNA CDKN2B-AS1 reduces inflammatory response and promotes cholesterol efflux in atherosclerosis by inhibiting ADAM10 expression.35
309624422019TMCO1-mediated Ca(2+) leak underlies osteoblast functions via CaMKII signaling.25
311025002019A novel biallelic loss-of-function mutation in TMCO1 gene confirming and expanding the phenotype spectrum of cerebro-facio-thoracic dysplasia.5
305562562019Cerebrofaciothoracic dysplasia: Four new patients with a recurrent TMCO1 pathogenic variant.4
308626182019SNP located in an AluJb repeat downstream of TMCO1, rs4657473, is protective for POAG in African Americans.6

Citation

Dessen P

TMCO1 (transmembrane and coiled-coil domains 1)

Atlas Genet Cytogenet Oncol Haematol. 2018-11-01

Online version: http://atlasgeneticsoncology.org/gene/57757/