Basic Information

Symbol
TMEM43
RNA class
mRNA
Alias
Transmembrane Protein 43 LUMA DKFZp586G1919 MGC3222 ARVD5 Arrhythmogenic Right Ventricular Dysplasia 5 EDMD7; AUNA2 Protein LUMA ARVC5 AUNA3 EDMD7
Location (GRCh38)
3:14125015-14143681
UCSC Genome Browser Search in Marker Scope
Forensic tag(s)
Sudden cardiac death diagnosis
External database
HGNC NCBI Ensembl OMIM UniProt GTEx

MANE select

Transcript ID
NM_024334.3
Sequence length
3230.0 nt
GC content
0.4941

Transcripts

ID Sequence Length GC content
NM_001407274.1 NCBI
GCAGUAAGUCCCGCUUGGCCCUGGAGUCCACGCGGAUUUUCGAAGCUGG… 3233 nt 0.4943
NM_001407275.1 NCBI
GCAGUAAGUCCCGCUUGGCCCUGGAGUCCACGCGGAUUUUCGAAGCUGG… 3227 nt 0.4940
NM_001407276.1 NCBI
GCAGUAAGUCCCGCUUGGCCCUGGAGUCCACGCGGAUUUUCGAAGCUGG… 3227 nt 0.4940
NM_001407277.1 NCBI
GCAGUAAGUCCCGCUUGGCCCUGGAGUCCACGCGGAUUUUCGAAGCUGG… 3224 nt 0.4938
NM_001407278.1 NCBI
GCAGUAAGUCCCGCUUGGCCCUGGAGUCCACGCGGAUUUUCGAAGCUGG… 3215 nt 0.4933
NM_001407279.1 NCBI
GCAGUAAGUCCCGCUUGGCCCUGGAGUCCACGCGGAUUUUCGAAGCUGG… 3155 nt 0.4913
NM_001407280.1 NCBI
GCAGUAAGUCCCGCUUGGCCCUGGAGUCCACGCGGAUUUUCGAAGCUGG… 3080 nt 0.4925
NM_024334.3 NCBI
GCAGUAAGUCCCGCUUGGCCCUGGAGUCCACGCGGAUUUUCGAAGCUGG… 3230 nt 0.4941
Summary

This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]

Forensic Context

A study in mice and human heart samples demonstrated that arrhythmogenic cardiomyopathy involves molecular remodeling of intercalated discs, leading to pathogenic activation of the Hippo pathway, suppression of canonical Wnt signaling, and enhanced adipogenesis [Chen et al. DOI:10.1161/CIRCRESAHA.114.302810].