TMEM43

This page contains an overview of the genetic variation in the TMEM43 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:

TMEM43 gene and transcript details

Gene Name
transmembrane protein 43

Gene Links
Ensembl: ENSG00000170876 - Locus Reference Genomic: LRG_435

Genomic Location
Chromosome 3 : 14,166,694 - 14,183,295 (forward strand)
View in: Ensembl - UCSC Genome Browser


Canonical Seqs Transcript (1200 bases)Protein (400 aa)
ENST00000306077 ENSP00000303992
LRG_435t1LRG_435p1
NM_024334.2
Q9BTV4

Summary of TMEM43 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail
VarTypeDCM FreqExAC FreqCase Excess
All0.007030.00730-0.03%
Truncating0.000000.00040-0.04%
Non-Truncating0.007030.006900.01%
Based on an analysis of rare variants (MAF<0.0001) in TMEM43 detected in a cohort of 427 DCM patients sequenced at OMGL+LMM clinical laboratories, compared to ExAC controls.

ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy - explore in detail
VarTypeARVC FreqExAC FreqCase Excess
All0.000000.00730-0.73%
Truncating0.000000.00040-0.04%
Non-Truncating0.000000.00690-0.69%
Based on an analysis of rare variants (MAF<0.0001) in TMEM43 detected in a cohort of 94 ARVC patients sequenced at OMGL clinical laboratories, compared to ExAC controls.


TMEM43 variants in ExAC

Details of the protein-altering TMEM43 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.

Total VariantsCombined frequency of rare variants
All Variants2310.00395
Truncating180.00020
Missense1870.00340
Inframe20.00004
Splice Site240.00031

Rare variants are defined as having a mean allelic frequency of less than 0.0001.