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Aliases for TMEM43 Gene

Aliases for TMEM43 Gene

  • Transmembrane Protein 43 2 3 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 5 and Emery-Dreifuss Muscular Dystrophy 7, Ad. GO annotations related to this gene include protein self-association. An important paralog of this gene is ENSG00000268279.

UniProtKB/Swiss-Prot 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for TMEM43 Gene

Genomics for TMEM43 Gene

Regulatory Elements for TMEM43 Gene

Enhancers for TMEM43 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH03F015097 0.8 ENCODE 19.7 +973.9 973895 2.4 CREB3L1 MLX ZFP64 YBX1 DMAP1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 CAPN7 SH3BP5-AS1 FGD5 ENSG00000228242 TMEM43 ENSG00000270409 FGD5-AS1 GC03M015081 RBSN
GH03F014177 0.7 ENCODE 16.9 +53.8 53764 2.8 HDGF PKNOX1 ARNT CREB3L1 MLX ARID4B SIN3A FEZF1 DMAP1 ZNF2 CHCHD4 TMEM43 ENSG00000228242 XPC LSM3
GH03F014207 0.8 Ensembl ENCODE 12.2 +85.2 85205 5.1 PKNOX1 KLF13 KDM4B KAT8 CREB3 NFIL3 MBD2 MEF2D SMARCA4 ETV4 SLC6A6 TMEM43 XPC C3orf20 CHCHD4 GC03P014217
GH03F014222 0.9 Ensembl ENCODE 12.2 +104.8 104842 14.0 HDGF PKNOX1 CREB3L1 ARNT FEZF1 FOS KLF13 ZNF263 JUNB ZHX2 CAPN7 ENSG00000228242 SLC6A6 TMEM43 LINC01267 VN1R20P LOC105376958 ENSG00000255021
GH03F014201 1.2 FANTOM5 Ensembl ENCODE 12.2 +78.9 78900 3.9 PKNOX1 ARNT ARID4B SIN3A ZNF2 YY1 ZNF143 REST MEF2D SMARCA4 TMEM43 SLC6A6 XPC GC03P014217
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around TMEM43 on UCSC Golden Path with GeneCards custom track

Promoters for TMEM43 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001358056 160 2601 CREB3L1 WRNIP1 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 CBX5 ZNF143

Genomic Location for TMEM43 Gene

Chromosome:
3
Start:
14,124,940 bp from pter
End:
14,143,680 bp from pter
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 Lys 99, Lys 204, Lys 210, and Lys 232
  • 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

Protein Domains for TMEM43 Gene

Suggested Antigen Peptide Sequences for TMEM43 Gene

GenScript: Design optimal peptide antigens:

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

No data available for Gene Families for TMEM43 Gene

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).

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

Inhibitory RNA Products

Clone Products

Flow Cytometry 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
Jensen Localization Image for TMEM43 Gene COMPARTMENTS Subcellular localization image for TMEM43 gene
Compartment Confidence
golgi apparatus 5
nucleus 5
plasma membrane 3
endoplasmic reticulum 2
peroxisome 1

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 IEA --
GO:0005783 endoplasmic reticulum IEA --
GO:0005788 endoplasmic reticulum lumen IEA --
genes like me logo Genes that share ontologies with TMEM43: view

Pathways & Interactions for TMEM43 Gene

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

Transcripts for TMEM43 Gene

mRNA/cDNA for TMEM43 Gene

Unigene Clusters for TMEM43 Gene

Transmembrane protein 43:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 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, PaxDb, 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.
genes like me logo Genes that share expression patterns with TMEM43: view

Primer Products

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 34 35
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia TMEM43 34 35
  • 89.42 (n)
mouse
(Mus musculus)
Mammalia Tmem43 34 16 35
  • 86.75 (n)
cow
(Bos Taurus)
Mammalia TMEM43 34 35
  • 86.42 (n)
rat
(Rattus norvegicus)
Mammalia Tmem43 34
  • 85.83 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 35
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 78 (a)
ManyToMany
-- 35
  • 76 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TMEM43 34
  • 70.52 (n)
-- 35
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem43 34
  • 64.1 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem43 34 35
  • 59.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8111 34 35
  • 48.69 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005797 34
  • 46.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 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)

Paralogs for TMEM43 Gene

Paralogs for TMEM43 Gene

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

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 Sequence Context AA Info Type
rs144811578 Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302], Pathogenic 14,130,930(+) TGCAC(A/G)TCATT reference, missense
rs397514044 Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302], Pathogenic 14,130,912(+) AGAAT(A/G)AAGGA reference, missense
rs63750743 Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400], Pathogenic 14,141,665(+) CACCT(C/T)GCTGA reference, missense
rs749837282 Pathogenic 14,130,957(+) CCAAG(A/G)TAGGT splice-donor-variant
rs193922706 Likely pathogenic 14,141,742(+) TGGCC(C/G/T)TTGTG reference, missense

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)

Relevant External Links 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

(12) MalaCards diseases for TMEM43 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
arrhythmogenic right ventricular dysplasia 5
  • arrhythmogenic right ventricular cardiomyopathy 5
emery-dreifuss muscular dystrophy 7, ad
  • edmd7
arrhythmogenic right ventricular cardiomyopathy
  • arrhythmogenic right ventricular dysplasia
emery-dreifuss muscular dystrophy 2, ad
  • autosomal dominant emery-dreifuss muscular dystrophy
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
  • familial isolated arrhythmogenic ventricular cardiomyopathy, classic form
- 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.

Relevant External Links for TMEM43

Genetic Association Database (GAD)
TMEM43
Human Genome Epidemiology (HuGE) Navigator
TMEM43
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
TMEM43
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 N.D. … Young T.-L. (Am. J. Hum. Genet. 2008) 2 3 4 22 46 64
  2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PMID: 11230166) Wiemann S. … Poustka A. (Genome Res. 2001) 2 3 4 64
  3. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. (PMID: 21391237) Liang W.C. … Hayashi Y.K. (Ann. Neurol. 2011) 3 4 64
  4. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C. … Brugada R. (Clin. Genet. 2010) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

Products for TMEM43 Gene

Sources for TMEM43 Gene

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