Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 79188
MIM: 612048
HGNC: 28472
Ensembl: ENSG00000170876
Variants:
dbSNP: 79188
ClinVar: 79188
TCGA: ENSG00000170876
COSMIC: TMEM43
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000170876 | ENST00000306077 | Q9BTV4 |
| ENSG00000170876 | ENST00000306077 | A0A024R2F9 |
| ENSG00000170876 | ENST00000432444 | F8WDL3 |
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA27489 | DSC2 | Gene | DataAnnotation | associated | |||
| PA27502 | DSG2 | Gene | DataAnnotation | associated | |||
| PA27505 | DSP | Gene | DataAnnotation | associated | |||
| PA33357 | PKP2 | Gene | DataAnnotation | associated | |||
| PA446847 | Arrhythmogenic Right Ventricular Dysplasia | Disease | DataAnnotation, Literature, MultilinkAnnotation | associated | 23788249 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36076925 | 2022 | Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish. | 6 |
| 36076925 | 2022 | Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish. | 6 |
| 34050020 | 2021 | A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder. | 13 |
| 34674311 | 2021 | Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy. | 8 |
| 34050020 | 2021 | A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder. | 13 |
| 34674311 | 2021 | Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy. | 8 |
| 32062046 | 2020 | Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5. | 22 |
| 32120009 | 2020 | Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy. | 12 |
| 32062046 | 2020 | Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5. | 22 |
| 32120009 | 2020 | Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy. | 12 |
| 30792239 | 2019 | Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management. | 11 |
| 30792239 | 2019 | Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management. | 11 |
| 28960618 | 2018 | Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations. | 2 |
| 28960618 | 2018 | Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations. | 2 |
| 27991920 | 2017 | TMEM43/LUMA is a key signaling component mediating EGFR-induced NF-κB activation and tumor progression. | 26 |
Citation
Dessen P
TMEM43 (transmembrane protein 43)
Atlas Genet Cytogenet Oncol Haematol. 2017-10-01
Online version: http://atlasgeneticsoncology.org/gene/57060/new-content/
