TMEM43 (transmembrane protein 43)

2017-10-01  

Identity

HGNC
TMEM43
LOCATION
3p25.1
LOCUSID
79188
ALIAS
ARVC5,ARVD5,EDMD7,LUMA

Other Information

Locus ID:

NCBI: 79188
MIM: 612048
HGNC: 28472
Ensembl: ENSG00000170876

Variants:

dbSNP: 79188
ClinVar: 79188
TCGA: ENSG00000170876
COSMIC: TMEM43

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000170876ENST00000306077Q9BTV4
ENSG00000170876ENST00000306077A0A024R2F9
ENSG00000170876ENST00000432444F8WDL3

Expression (GTEx)

0
50
100
150
200
250
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA27489DSC2GeneDataAnnotationassociated
PA27502DSG2GeneDataAnnotationassociated
PA27505DSPGeneDataAnnotationassociated
PA33357PKP2GeneDataAnnotationassociated
PA446847Arrhythmogenic Right Ventricular DysplasiaDiseaseDataAnnotation, Literature, MultilinkAnnotationassociated23788249

References

Pubmed IDYearTitleCitations
360769252022Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.6
360769252022Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.6
340500202021A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.13
346743112021Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy.8
340500202021A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.13
346743112021Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy.8
320620462020Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.22
321200092020Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy.12
320620462020Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.22
321200092020Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy.12
307922392019Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management.11
307922392019Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management.11
289606182018Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations.2
289606182018Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations.2
279919202017TMEM43/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/js/lib/tumors-explorer/