Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
79188
Gene name Gene Name - the full gene name approved by the HGNC.
Transmembrane protein 43
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TMEM43
Synonyms (NCBI Gene) Gene synonyms aliases
ARVC5, ARVD5, AUNA3, EDMD7, EDMD7; AUNA2, LUMA
Chromosome Chromosome number
3
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
3p25.1
Summary Summary of gene provided in NCBI Entrez Gene.
This gene belongs to the TMEM43 family. Defects in this gene are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5), also known as arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). Arrhythmogenic right ventricula
SNPs SNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs63750743 C>T Pathogenic Coding sequence variant, missense variant
rs116911972 T>C Benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign Missense variant, coding sequence variant
rs144152046 C>T Conflicting-interpretations-of-pathogenicity, likely-benign Missense variant, coding sequence variant
rs144811578 A>G Pathogenic, likely-benign, uncertain-significance Coding sequence variant, missense variant
rs151010429 G>A,T Pathogenic, uncertain-significance, conflicting-interpretations-of-pathogenicity Coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT001406 hsa-miR-16-5p pSILAC 18668040
MIRT022952 hsa-miR-124-3p Microarray 18668037
MIRT025854 hsa-miR-7-5p Microarray 19073608
MIRT027185 hsa-miR-103a-3p Sequencing 20371350
MIRT001406 hsa-miR-16-5p Sequencing 20371350
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0005515 Function Protein binding IPI 21391237, 25416956, 25910212, 26871637, 32296183, 32814053
GO:0005634 Component Nucleus IEA
GO:0005637 Component Nuclear inner membrane IBA
GO:0005637 Component Nuclear inner membrane IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
612048 28472 ENSG00000170876
Protein
UniProt ID Q9BTV4
Protein name Transmembrane protein 43 (Protein LUMA)
Protein function May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of in
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07787 TMEM43 121 373 Transmembrane protein 43 Family
Tissue specificity TISSUE SPECIFICITY: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. {ECO:0000269|PubMed:18230648}.
Sequence
Sequence length 400
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  
  Cytoskeleton in muscle cells  
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Arrhythmogenic right ventricular cardiomyopathy Familial isolated arrhythmogenic right ventricular dysplasia, Arrhythmogenic right ventricular dysplasia 5 rs63750743 N/A
arrhythmogenic right ventricular cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy rs63750743 N/A
cardiomyopathy Cardiomyopathy rs63750743 N/A
Cardiomyopathy Primary dilated cardiomyopathy rs63750743 N/A
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Auditory Neuropathy auditory neuropathy, autosomal dominant 3 N/A N/A GenCC
Emery-Dreifuss Muscular Dystrophy emery-dreifuss muscular dystrophy 7, autosomal dominant, autosomal dominant Emery-Dreifuss muscular dystrophy, Emery-Dreifuss muscular dystrophy 7, autosomal dominant N/A N/A ClinVar, GenCC
Long QT Syndrome long qt syndrome N/A N/A ClinVar
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Adenomatous Polyposis Coli Associate 31663907
Anxiety Associate 34500452
Arrhythmogenic Right Ventricular Dysplasia Associate 15680719, 18313022, 20124997, 21636032, 25343256, 25445213, 32062046, 33831308, 34500452, 34930282, 38166344, 40055648
Arrhythmogenic Right Ventricular Dysplasia Familial 5 Associate 18313022, 25343256, 32062046, 32858485
Arthritis Rheumatoid Associate 33482886
Breast Neoplasms Associate 16643655, 30735795, 36304471, 37209182
Cardiomyopathy Dilated Associate 32916098, 34486814
Death Sudden Cardiac Associate 20435227, 32062046, 34930282
Hearing Disorders Associate 35364395
Hearing Loss Associate 35364395