Property Summary

NCBI Gene PubMed Count 24
Grant Count 1
Funding $53,727.57
PubMed Score 11.88
PubTator Score 11.51

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Synonym

Accession Q9UM00 B2REA0 O75545 Q9BZS3 Q9BZU8 CLAC channel
Symbols PCIA3
TMCC4
HP10122
PNAS-136

Gene

 Grant Application (1)

 GO Function (1)

Gene RIF (8)

PMID Text
25489222 The significant association of three common variants in TMCO1, ATOH7, and CAV1 with primary open angle, primary angle closure, and pseudoexfoliation glaucoma was found in Pakistani cohorts.
24194475 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
23963167 We identified two nominally significant SNPs (P < 0.05), including rs7518099 and rs2814471 in TMCO1, in primary open angle glaucoma.
22714896 This study shows a relationship between genetic variation in and around TMCO1 with age at diagnosis of POAG and provides clues to the potential cellular function/s of this gene.
22570627 Intraocular pressure (IOP)was significantly associated with rs11656696, located in GAS7 at 17p13.1 and with rs7555523, located in TMCO1 at 1q24.1.These data suggest that we have identified two clinically relevant genes involved in IOP regulation.
21532571 We report a genome-wide association study for open-angle glaucoma (OAG) blindness at tnco1 and cdkn2b loci.
20018682 This report shows a TMCO1 sequence variant being associated with a genetic disorder in humans.
19536175 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MSTMFADTLLIVFISVCTALLAEGITWVLVYRTDKYKRLKAEVEKQSKKLEKKKETITESAGRQQKKKIE      1 - 70
RQEEKLKNNNRDLSMVRMKSMFAIGFCFTALMGMFNSIFDGRVVAKLPFTPLSYIQGLSHRNLLGDDTTD     71 - 140
CSFIFLYILCTMSIRQNIQKILGLAPSRAATKQAGGFLGPPPPSGKFS                          141 - 188
//

Text Mined References (30)

PMID Year Title
27212239 2016 TMCO1 Is an ER Ca(2+) Load-Activated Ca(2+) Channel.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25489222 2014 Association of known common genetic variants with primary open angle, primary angle closure, and pseudoexfoliation glaucoma in Pakistani cohorts.
25173106 2014 Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma.
25173105 2014 Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
24194475 2014 TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
24002674 2014 Genome-wide association study and meta-analysis of intraocular pressure.
23963167 2013 Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.
23320496 2013 Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic spectrum.
22714896 2012 Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.
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