Property Summary

NCBI Gene PubMed Count 31
PubMed Score 17.18
PubTator Score 43.91

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (10)

Disease log2 FC p
osteosarcoma 1.275 3.9e-03
ependymoma 1.200 7.3e-14
glioblastoma 1.200 3.8e-02
atypical teratoid / rhabdoid tumor 1.200 1.7e-07
acute quadriplegic myopathy 1.142 4.0e-06
primary pancreatic ductal adenocarcinoma 1.158 6.3e-03
diabetes mellitus -1.100 1.8e-03
ovarian cancer 2.100 6.5e-05
pancreatic cancer 1.100 2.4e-02
head and neck cancer -1.200 8.1e-03

Gene RIF (16)

PMID Text
26966288 Implantable cardioverter defibrillator therapy is indicated for primary prevention in postpubertal males and in females >/= 30 years with the p.S358L TMEM43 mutation.
25343256 These observations suggest that expression of the p.S358L mutant of TMEM43 found in ARVC type 5 may affect localization of proteins involved in conduction, alter gap junction function and reduce conduction velocity in cardiac tissue.
24598986 Results suggest a link between missense mutation in this protein and the risk of familial ARVC
23812740 TMEM43 mutations occur outside of the founder population of the island of Newfoundland where it was originally described.
23161701 full gene sequencing of TMEM43 in 143 ARVC probands (families) from the UK revealed three potential pathogenic variants (p.R312W, p.R28W, p.E142K). The p.R312W missense variant is a recurrent mutation due to a founder effect and is likely pathogenic.
22725725 ARVC due to p.S358L in TMEM43 is a variant form of ARVC with extreme variability of expression. It is sex influenced: males are more frequently hospitalized and have heart failure and SCD at a younger age than females.
22458570 Ser358Leu mutant TMEM43 exhibits normal cellular localization and does not disrupt integrity and localization of other nuclear envelope and desmosomal proteins.
22190034 HIV-1 gp120 is identified to have a physical interaction with transmembrane protein 43 (TMEM43) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses
21391237 The results of study suggested that mutant LUMAs may be associated with EDMD-related myopathy.
21214875 The TMEM43 gene underlies a distinctive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) which may share a final common pathway with desmosome-associated ARVC.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20010364 Studies indicate that in 2007, the Newfoundland local research team discovered the causative mutation in a novel gene TMEM43 within the disease-associated founder haplotype.
19863551 Observational study of genetic testing. (HuGE Navigator)
18313022 In families with arrhythmogenic right ventricular cardiomyopathy, there was found a missense mutation in a highly conserved transmembrane domain of TMEM43 and was predicted to be deleterious.
18313022 Observational study of gene-disease association. (HuGE Navigator)
18230648 LUMA (TMEM43) is a highly conserved protein located to inner nuclear membrane (INM) and interacting with A- and B-type lamins. It is particularly important for anchoring of emerin at the INM and may thus contribute to the pathogenesis of laminopathies.

AA Sequence

MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKTATSLAEGLSL      1 - 70
VVSPDSIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVEMYQWVETEESREYTEDGQVK     71 - 140
KETRYSYNTEWRSEIINSKNFDREIGHKNPSAMAVESFMATAPFVQIGRFFLSSGLIDKVDNFKSLSLSK    141 - 210
LEDPHVDIIRRGDFFYHSENPKYPEVGDLRVSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSG    211 - 280
DTLLLLHHGDFSAEEVFHRELRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLVDWFPVFRDLVNIGLKA    281 - 350
FAFCVATSLTLLTVAAGWLFYRPLWALLIAGLALVPILVARTRVPAKKLE                        351 - 400
//

Text Mined References (36)

PMID Year Title
26966288 2016 Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy.
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25416956 2014 A proteome-scale map of the human interactome network.
25343256 2014 TMEM43 mutation p.S358L alters intercalated disc protein expression and reduces conduction velocity in arrhythmogenic right ventricular cardiomyopathy.
24598986 2015 The TMEM43 Newfoundland mutation p.S358L causing ARVC-5 was imported from Europe and increases the stiffness of the cell nucleus.
24275569 2014 An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.
23812740 2013 TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations.
23161701 2013 Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada.
22814378 2012 N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB.
22725725 2013 The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43.
22458570 2012 Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy.
21391237 2011 TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy.
21269460 2011 Initial characterization of the human central proteome.
21214875 2011 Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20010364 2009 Translation of research discoveries to clinical care in arrhythmogenic right ventricular cardiomyopathy in Newfoundland and Labrador: lessons for health policy in genetic disease.
19863551 2010 Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
19413330 2009 Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach.
18313022 2008 Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene.
18230648 2008 LUMA interacts with emerin and influences its distribution at the inner nuclear membrane.
16381901 2006 The LIFEdb database in 2006.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16303743 2005 Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.
15489336 2004 From ORFeome to biology: a functional genomics pipeline.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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.
11593002 2001 Nuclear envelope proteomics: novel integral membrane proteins of the inner nuclear membrane.
11256614 2000 Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing.
11230166 2001 Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs.
11076863 2000 DNA cloning using in vitro site-specific recombination.
10631146 2000 The locus of a novel gene responsible for arrhythmogenic right-ventricular dysplasia characterized by early onset and high penetrance maps to chromosome 10p12-p14.
9860777 1998 Localization of a gene responsible for arrhythmogenic right ventricular dysplasia to chromosome 3p23.
8125298 1994 Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides.