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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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TMEM43
transmembrane protein 43
Chromosome 3 Β· 3p25.1
NCBI Gene: 79188Ensembl: ENSG00000170876.10HGNC: HGNC:28472UniProt: A0A024R2F9
135PubMed Papers
23Diseases
0Drugs
3Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
nuclear membrane organizationvoltage-gated sodium channel activityvoltage-gated potassium channel activityprotein bindingarrhythmogenic right ventricular dysplasia 5Emery-Dreifuss muscular dystrophy 7, autosomal dominantArrhythmogenic right ventricular dysplasiaarrhythmogenic right ventricular cardiomyopathy
✦AI Summary

TMEM43 (transmembrane protein 43) is a membrane-spanning protein that plays critical roles in cardiac function, nuclear envelope maintenance, and cellular signaling. The protein primarily localizes to the endoplasmic reticulum and nuclear membranes, where it maintains nuclear envelope structure and is stabilized through interactions with squalene synthase 1. TMEM43 functions as a key regulator of lipid metabolism by suppressing sterol regulatory element-binding proteins (SREBPs) through sequestration of the transcriptional coactivator LRPPRC to the nuclear membrane, thereby controlling adipocyte versus cardiomyocyte differentiation 1. The protein also interacts with mitochondrial voltage-dependent anion channels (VDAC1 and VDAC2), which is crucial for maintaining mitochondrial function 2. Mutations in TMEM43, particularly the S358L variant, cause arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5), the most aggressive form of ARVC 34. This mutation leads to reduced VDAC binding and mitochondrial dysfunction 2, as well as pro-arrhythmogenic phenotypes with elevated contraction rates and altered calcium handling in cardiomyocytes 5. ARVC5 is characterized by fibrofatty replacement of myocardium, heart failure, and sudden cardiac death, with the disease being particularly severe in males 5. Recent therapeutic approaches using adeno-associated virus-mediated delivery of wild-type TMEM43 show promise for treating this lethal condition 4.

Sources cited
1
TMEM43 mutations cause Emery-Dreifuss muscular dystrophy subtype 7 and are associated with cardiac complications
PMID: 31840275
2
TMEM43 suppresses SREBP activity by sequestrating LRPPRC and regulates adipocyte vs cardiomyocyte differentiation
PMID: 40885397
3
ARVC5 is caused by S358L mutation in TMEM43 and is the most aggressive ARVC type; wild-type TMEM43 overexpression improves cardiac function
PMID: 40091736
4
TMEM43 S358L mutation reduces interaction with VDAC proteins leading to mitochondrial dysfunction
PMID: 41411330
5
TMEM43 S358L mutation causes pro-arrhythmogenic phenotypes with elevated contraction rates and altered calcium handling, more severe in males
PMID: 40055648
Disease Associationsβ“˜23
arrhythmogenic right ventricular dysplasia 5Open Targets
0.73Strong
Emery-Dreifuss muscular dystrophy 7, autosomal dominantOpen Targets
0.73Strong
Arrhythmogenic right ventricular dysplasiaOpen Targets
0.66Moderate
arrhythmogenic right ventricular cardiomyopathyOpen Targets
0.52Moderate
auditory neuropathy, autosomal dominant 3Open Targets
0.50Moderate
cardiomyopathyOpen Targets
0.45Moderate
Abnormality of the cardiovascular systemOpen Targets
0.42Moderate
dilated cardiomyopathyOpen Targets
0.37Weak
autosomal dominant Emery-Dreifuss muscular dystrophyOpen Targets
0.37Weak
familial isolated arrhythmogenic ventricular dysplasia, biventricular formOpen Targets
0.37Weak
familial isolated arrhythmogenic ventricular dysplasia, left dominant formOpen Targets
0.37Weak
familial isolated arrhythmogenic ventricular dysplasia, right dominant formOpen Targets
0.37Weak
hypertrophic cardiomyopathyOpen Targets
0.37Weak
familial isolated arrhythmogenic right ventricular dysplasiaOpen Targets
0.34Weak
vertebral joint diseaseOpen Targets
0.18Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
Autosomal dominant limb-girdle muscular dystrophy type 1BOpen Targets
0.12Weak
Emery-Dreifuss muscular dystrophy 2, autosomal dominantOpen Targets
0.12Weak
Left ventricular noncompaction cardiomyopathyOpen Targets
0.12Weak
limb-girdle muscular dystrophyOpen Targets
0.12Weak
Arrhythmogenic right ventricular dysplasia, familial, 5UniProt
Auditory neuropathy, autosomal dominant 3UniProt
Emery-Dreifuss muscular dystrophy 7, autosomal dominantUniProt
Pathogenic Variants3
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)Pathogenic
Arrhythmogenic right ventricular dysplasia 5|Arrhythmogenic right ventricular cardiomyopathy|not provided|Familial isolated arrhythmogenic right ventricular dysplasia|Cardiovascular phenotype|Cardiomyopathy|Hypertrophic cardiomyopathy|Primary dilated cardiomyopathy
β˜…β˜…β˜†β˜†2026β†’ Residue 358
NM_024334.3(TMEM43):c.201dup (p.Leu68fs)Likely pathogenic
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
β˜…β˜†β˜†β˜†2023β†’ Residue 68
NM_024334.3(TMEM43):c.393-2A>GLikely pathogenic
Arrhythmogenic right ventricular dysplasia 5
β˜…β˜†β˜†β˜†2013
View on ClinVar β†—
Related Genes
DSC2Protein interaction93%DSC3Protein interaction93%DSG2Protein interaction93%JUPProtein interaction93%LMNAProtein interaction93%PKP2Protein interaction93%
Tissue Expression6 tissues
Lung
100%
Ovary
97%
Heart
68%
Brain
31%
Liver
25%
Bone Marrow
19%
Gene Interaction Network
Click a node to explore
TMEM43DSC2DSC3DSG2JUPLMNAPKP2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q9BTV4
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.13LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.88 [0.69–1.13]
RankingsWhere TMEM43 stands among ~20K protein-coding genes
  • #3,441of 20,598
    Most Researched135 Β· top quartile
  • #3,964of 5,498
    Most Pathogenic Variants3
  • #11,678of 17,882
    Most Constrained (LOEUF)1.13
Genes detectedTMEM43
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Emery-Dreifuss muscular dystrophy.
PMID: 31840275
Muscle Nerve Β· 2020
1.00
2
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
0.90
3
Transmembrane proteins with unknown function (TMEMs) as ion channels: electrophysiological properties, structure, and pathophysiological roles.
PMID: 38556553
Exp Mol Med Β· 2024
0.80
4
Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments.
PMID: 34263412
Heart Fail Rev Β· 2022
0.70
5
Suppression of SREBP by a transmembrane protein mutated in cardiomyopathy.
PMID: 40885397
J Biol Chem Β· 2025
0.60