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 0.004
ependymoma 1.200 0.000
glioblastoma 1.200 0.038
atypical teratoid / rhabdoid tumor 1.200 0.000
acute quadriplegic myopathy 1.142 0.000
primary pancreatic ductal adenocarcinoma 1.158 0.006
diabetes mellitus -1.100 0.002
ovarian cancer 2.100 0.000
pancreatic cancer 1.100 0.024
head and neck cancer -1.200 0.008

Synonym

Accession Q9BTV4 Q7L4N5 Q8NC30 Q96A63 Q96F19 Q96JX0 Q9H076
Symbols LUMA
ARVC5
ARVD5
EDMD7

Gene

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.
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AA Sequence

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