Property Summary

NCBI Gene PubMed Count 24
PubMed Score 11.88
PubTator Score 11.51

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (11)

Disease log2 FC p
Multiple myeloma 1.682 3.1e-03
osteosarcoma 2.216 9.0e-06
posterior fossa group B ependymoma 1.300 1.5e-14
glioblastoma 1.500 1.2e-04
intraductal papillary-mucinous adenoma (... 1.400 6.6e-03
intraductal papillary-mucinous neoplasm ... 1.300 3.8e-02
lung cancer 1.700 1.6e-04
group 3 medulloblastoma 1.300 2.0e-03
lung adenocarcinoma 1.045 3.1e-09
invasive ductal carcinoma 1.100 1.9e-03
ovarian cancer -1.400 7.3e-03

 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.
22570627 2012 Common genetic determinants of intraocular pressure and primary open-angle glaucoma.
21532571 2011 Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
21269460 2011 Initial characterization of the human central proteome.
20068231 2010 Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
20018682 2010 Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation.
19536175 2009 Follow-up of a major linkage peak on chromosome 1 reveals suggestive QTLs associated with essential hypertension: GenNet study.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
18669648 2008 A quantitative atlas of mitotic phosphorylation.
17081983 2006 Global, in vivo, and site-specific phosphorylation dynamics in signaling networks.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16565220 2006 Phosphoproteome analysis of the human mitotic spindle.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15146197 2004 Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12975309 2003 The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
10393320 1999 Multi-ubiquitination of a nascent membrane protein produced in a rabbit reticulocyte lysate.
9110174 1997 Large-scale concatenation cDNA sequencing.
8619474 1996 A "double adaptor" method for improved shotgun library construction.