TMCO1 (transmembrane and coiled-coil domains 1)

2018-11-01  

Identity

HGNC
TMCO1
LOCATION
1q24.1
LOCUSID
54499
ALIAS
HP10122,PCIA3,PNAS-136,TMCC4
FUSION GENES
Show Gene Fusions

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
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

References

Pubmed IDYearTitleCitations
215325712011Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.163
225706272012Common genetic determinants of intraocular pressure and primary open-angle glaucoma.72
195361752009Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.30
239631672013Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.30
200186822010Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.18
227148962012Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.16
254892222014Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.9
277075482016Glaucoma Risk Alleles in the Ocular Hypertension Treatment Study.7
241944752014TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.6
309267622019Long non-coding RNA CDKN2B-AS1 reduces inflammatory response and promotes cholesterol efflux in atherosclerosis by inhibiting ADAM10 expression.5

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/tmco1