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 ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart... See more...

Aliases for TMEM43 Gene

Aliases for TMEM43 Gene

  • Transmembrane Protein 43 2 3 4 5
  • Arrhythmogenic Right Ventricular Dysplasia 5 2
  • Protein LUMA 4
  • ARVC5 3
  • EDMD7 3
  • ARVD5 3
  • LUMA 3

External Ids for TMEM43 Gene

Previous HGNC Symbols for TMEM43 Gene

  • ARVD5

Previous GeneCards Identifiers for TMEM43 Gene

  • GC03P014142

Summaries for TMEM43 Gene

Entrez Gene Summary for TMEM43 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 ventricular dysplasia is an inherited disorder, often involving both ventricles, and is characterized by ventricular tachycardia, heart failure, sudden cardiac death, and fibrofatty replacement of cardiomyocytes. This gene contains a response element for PPAR gamma (an adipogenic transcription factor), which may explain the fibrofatty replacement of the myocardium, a characteristic pathological finding in ARVC. [provided by RefSeq, Oct 2008]

GeneCards Summary for TMEM43 Gene

TMEM43 (Transmembrane Protein 43) is a Protein Coding gene. Diseases associated with TMEM43 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 and Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant. Gene Ontology (GO) annotations related to this gene include protein self-association. An important paralog of this gene is ENSG00000268279.

UniProtKB/Swiss-Prot Summary for TMEM43 Gene

  • 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).

Gene Wiki entry for TMEM43 Gene

Additional gene information for TMEM43 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM43 Gene

Genomics for TMEM43 Gene

GeneHancer (GH) Regulatory Elements for TMEM43 Gene

Promoters and enhancers for TMEM43 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TMEM43 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the TMEM43 gene promoter:
  • aMEF-2
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • MEF-2A
  • SRF
  • SRF (504 AA)

Genomic Locations for TMEM43 Gene

Genomic Locations for TMEM43 Gene
chr3:14,124,940-14,143,680
(GRCh38/hg38)
Size:
18,741 bases
Orientation:
Plus strand
chr3:14,166,440-14,185,180
(GRCh37/hg19)
Size:
18,741 bases
Orientation:
Plus strand

Genomic View for TMEM43 Gene

Genes around TMEM43 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TMEM43 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TMEM43 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TMEM43 Gene

Proteins for TMEM43 Gene

  • Protein details for TMEM43 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BTV4-TMM43_HUMAN
    Recommended name:
    Transmembrane protein 43
    Protein Accession:
    Q9BTV4
    Secondary Accessions:
    • Q7L4N5
    • Q8NC30
    • Q96A63
    • Q96F19
    • Q96JX0
    • Q9H076

    Protein attributes for TMEM43 Gene

    Size:
    400 amino acids
    Molecular mass:
    44876 Da
    Quaternary structure:
    • Can form oligomers through the transmembrane domains. Interacts with EMD; the interaction retains EMD at the inner nuclear membrane. Interacts with LMNA and LMNB2 (By similarity). Interacts with SUN2.
    SequenceCaution:
    • Sequence=BAB55396.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

neXtProt entry for TMEM43 Gene

Post-translational modifications for TMEM43 Gene

  • Ubiquitination at Lys99, Lys204, Lys210, and Lys232
  • Modification sites at PhosphoSitePlus

Other Protein References for TMEM43 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for TMEM43 Gene

Domains & Families for TMEM43 Gene

Gene Families for TMEM43 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

Protein Domains for TMEM43 Gene

Suggested Antigen Peptide Sequences for TMEM43 Gene

GenScript: Design optimal peptide antigens:
  • Protein LUMA (TMM43_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9BTV4

UniProtKB/Swiss-Prot:

TMM43_HUMAN :
  • Belongs to the TMEM43 family.
Family:
  • Belongs to the TMEM43 family.
genes like me logo Genes that share domains with TMEM43: view

Function for TMEM43 Gene

Molecular function for TMEM43 Gene

UniProtKB/Swiss-Prot 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).

Phenotypes From GWAS Catalog for TMEM43 Gene

Gene Ontology (GO) - Molecular Function for TMEM43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 21391237
GO:0043621 protein self-association IEA --
genes like me logo Genes that share ontologies with TMEM43: view
genes like me logo Genes that share phenotypes with TMEM43: view

Human Phenotype Ontology for TMEM43 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for TMEM43

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM43

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM43 Gene

Localization for TMEM43 Gene

Subcellular locations from UniProtKB/Swiss-Prot for TMEM43 Gene

Endoplasmic reticulum. Nucleus inner membrane; Multi-pass membrane protein. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B-lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TMEM43 gene
Compartment Confidence
nucleus 5
golgi apparatus 4
plasma membrane 3
endoplasmic reticulum 2
cytoskeleton 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for TMEM43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005637 nuclear inner membrane IEA --
GO:0005639 integral component of nuclear inner membrane IBA 21873635
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with TMEM43: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM43 Gene

Pathways & Interactions for TMEM43 Gene

PathCards logo

SuperPathways for TMEM43 Gene

No Data Available

Gene Ontology (GO) - Biological Process for TMEM43 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0071763 nuclear membrane organization IDA 18230648
genes like me logo Genes that share ontologies with TMEM43: view

No data available for Pathways by source and SIGNOR curated interactions for TMEM43 Gene

Drugs & Compounds for TMEM43 Gene

No Compound Related Data Available

Transcripts for TMEM43 Gene

mRNA/cDNA for TMEM43 Gene

(1) REFSEQ mRNAs :
(17) Additional mRNA sequences :
(473) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM43

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for TMEM43 Gene

ExUns: 1a · 1b ^ 2 ^ 3a · 3b ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b
SP1: - -
SP2: - - -
SP3: - - -
SP4:
SP5:

Relevant External Links for TMEM43 Gene

GeneLoc Exon Structure for
TMEM43
ECgene alternative splicing isoforms for
TMEM43

Expression for TMEM43 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for TMEM43 Gene

Protein differential expression in normal tissues from HIPED for TMEM43 Gene

This gene is overexpressed in Nasal epithelium (12.8) and Placenta (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM43 Gene



Protein tissue co-expression partners for TMEM43 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of TMEM43 Gene:

TMEM43

SOURCE GeneReport for Unigene cluster for TMEM43 Gene:

Hs.517817

mRNA Expression by UniProt/SwissProt for TMEM43 Gene:

Q9BTV4-TMM43_HUMAN
Tissue specificity: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.

Evidence on tissue expression from TISSUES for TMEM43 Gene

  • Nervous system(4.9)
  • Thyroid gland(4.3)
  • Liver(4.2)
  • Heart(2.7)
  • Lung(2.7)
  • Kidney(2.5)
  • Muscle(2.5)
  • Skin(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM43 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • ear
  • head
  • neck
Thorax:
  • heart
  • heart valve
  • lung
  • scapula
Abdomen:
  • kidney
Limb:
  • arm
  • elbow
  • foot
  • lower limb
  • upper limb
General:
  • blood
  • blood vessel
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with TMEM43: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TMEM43 Gene

Orthologs for TMEM43 Gene

This gene was present in the common ancestor of animals.

Orthologs for TMEM43 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia TMEM43 33 32
  • 99.25 (n)
OneToOne
dog
(Canis familiaris)
Mammalia TMEM43 33 32
  • 89.42 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Tmem43 17 33 32
  • 86.75 (n)
cow
(Bos Taurus)
Mammalia TMEM43 33 32
  • 86.42 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Tmem43 32
  • 85.83 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 33
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 33
  • 78 (a)
ManyToMany
-- 33
  • 76 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TMEM43 32
  • 70.52 (n)
-- 33
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem43 32
  • 64.1 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem43 33 32
  • 59.83 (n)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta CG8111 33 32
  • 48.69 (n)
OneToMany
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005797 32
  • 46.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 40 (a)
OneToMany
Species where no ortholog for TMEM43 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for TMEM43 Gene

ENSEMBL:
Gene Tree for TMEM43 (if available)
TreeFam:
Gene Tree for TMEM43 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for TMEM43: view image

Paralogs for TMEM43 Gene

Paralogs for TMEM43 Gene

(1) SIMAP similar genes for TMEM43 Gene using alignment to 2 proteins:

  • TMM43_HUMAN
  • F8WDL3_HUMAN
genes like me logo Genes that share paralogs with TMEM43: view

Variants for TMEM43 Gene

Sequence variations from dbSNP and Humsavar for TMEM43 Gene

SNP ID Clin Chr 03 pos Variation AA Info Type
rs1021721320 likely-benign, not specified, not provided 14,129,495(+) C/T 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant
rs1035334505 likely-benign, not specified, Cardiomyopathy 14,141,756(+) T/C/G coding_sequence_variant, synonymous_variant
rs1043943 likely-benign, benign, Arrhythmogenic right ventricular cardiomyopathy, Xeroderma pigmentosum 14,141,910(+) T/C 3_prime_UTR_variant
rs1043953 likely-benign, Arrhythmogenic right ventricular cardiomyopathy, Xeroderma pigmentosum 14,142,258(+) A/G 3_prime_UTR_variant
rs10468 likely-benign, Xeroderma pigmentosum, Arrhythmogenic right ventricular cardiomyopathy 14,143,219(+) T/C 3_prime_UTR_variant

Structural Variations from Database of Genomic Variants (DGV) for TMEM43 Gene

Variant ID Type Subtype PubMed ID
dgv764e201 CNV deletion 23290073
dgv793n67 CNV loss 20364138
esv23267 CNV loss 19812545
esv2658831 CNV deletion 23128226
esv2724945 CNV deletion 23290073
esv2724949 CNV deletion 23290073
esv34163 CNV loss 18971310
esv3561499 CNV deletion 23714750
esv3595362 CNV loss 21293372
esv4628 CNV loss 18987735
nsv1011766 CNV gain 25217958
nsv521096 CNV loss 19592680
nsv589769 CNV loss 21841781
nsv955318 CNV deletion 24416366

Variation tolerance for TMEM43 Gene

Residual Variation Intolerance Score: 96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 17.37; 98.17% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TMEM43 Gene

Human Gene Mutation Database (HGMD)
TMEM43
SNPedia medical, phenotypic, and genealogical associations of SNPs for
TMEM43

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM43 Gene

Disorders for TMEM43 Gene

MalaCards: The human disease database

(14) MalaCards diseases for TMEM43 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

TMM43_HUMAN
  • Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:18313022}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269 PubMed:21391237}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for TMEM43

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with TMEM43: view

No data available for Genatlas for TMEM43 Gene

Publications for TMEM43 Gene

  1. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. (PMID: 18313022) Merner ND … Young TL (American journal of human genetics 2008) 2 3 4 23 43 56
  2. TMEM43/LUMA is a key signaling component mediating EGFR-induced NF-κB activation and tumor progression. (PMID: 27991920) Jiang C … Lin X (Oncogene 2017) 2 3 56
  3. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. (PMID: 21391237) Liang WC … Hayashi YK (Annals of neurology 2011) 3 4 56
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
  5. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C … Brugada R (Clinical genetics 2010) 3 43 56

Products for TMEM43 Gene

Sources for TMEM43 Gene