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_435t1	LRG_435p1
	NM_024334.2
		Q9BTV4

Summary of TMEM43 in Cardiomyopathies

DCM - Dilated Cardiomyopathy - explore in detail

VarType	DCM Freq	ExAC Freq	Case Excess
All	0.00703	0.00730	-0.03%
Truncating	0.00000	0.00040	-0.04%
Non-Truncating	0.00703	0.00690	0.01%

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

VarType	ExAC Freq	Case Excess
All	0.00730	-0.73%
Truncating	0.00040	-0.04%
Non-Truncating	0.00690	-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 Variants	Combined frequency of rare variants
All Variants	231	0.00395
Truncating	18	0.00020
Missense	187	0.00340
Inframe	2	0.00004
Splice Site	24	0.00031

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