Free for academic non-profit institutions. Other users need a Commercial license

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

Additional gene information for TMEM43 Gene

No data available for CIViC summary , 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
GH03H013890 1.4 FANTOM5 Ensembl ENCODE 21.5 -233.9 -233879 1 DEAF1 ZBTB40 YY1 ETS1 TCF12 EGR1 ZNF143 ATF7 THAP11 HCFC1 TMEM43 LINC00620 CHCHD4 VN1R20P LOC105376957 WNT7A
GH03H014177 1.1 ENCODE 26.7 +53.8 53764 2 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 TMEM43 XPC CHCHD4 CCDC174 LSM3 MRPS25
GH03H014369 1.9 FANTOM5 Ensembl ENCODE dbSUPER 15 +247.7 247746 6 HNRNPUL1 HDGF PKNOX1 FOXA2 SIN3A ZNF2 SP3 ZNF592 SREBF1 SMARCA4 CCDC174 XPC TMEM43 ENSG00000228242 NR2C2 SH3BP5-AS1 SLC6A6 CAPN7 LINC01267 WNT7A
GH03H014438 1.9 FANTOM5 Ensembl ENCODE dbSUPER 12.8 +315.5 315509 3 PKNOX1 ATF1 ARNT ZNF493 FEZF1 ZNF2 TCF12 ZNF121 GLIS2 FOS XPC CCDC174 CAPN7 SLC6A6 NR2C2 ENSG00000230172 ENSG00000223398 HDAC11-AS1 SH3BP5-AS1 TMEM43
GH03H015097 1.2 ENCODE 19.3 +973.9 973895 2 MLX ZFP64 DMAP1 YBX1 YY1 SLC30A9 ZNF416 ZNF143 ZNF548 SP3 NR2C2 CCDC174 CAPN7 SH3BP5-AS1 XPC ENSG00000228242 TMEM43 MRPS25 HACL1 FGD5
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000148875 160 2201 HDGF PKNOX1 FOXA2 ARNT ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

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 posLast=9999, Lys204, posLast=210210, and posLast=232232
  • 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:

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

Clone Products

  • Applied Biological Materials Clones for TMEM43
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 5
plasma membrane 3
endoplasmic reticulum 2
cytoskeleton 1
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

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

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

Drugs & Compounds for TMEM43 Gene

No Compound Related Data Available

Transcripts for TMEM43 Gene

mRNA/cDNA for TMEM43 Gene

Unigene Clusters for TMEM43 Gene

Transmembrane protein 43:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for TMEM43
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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, 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.

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
Organs:
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

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 33 34
  • 99.25 (n)
dog
(Canis familiaris)
Mammalia TMEM43 33 34
  • 89.42 (n)
mouse
(Mus musculus)
Mammalia Tmem43 33 16 34
  • 86.75 (n)
cow
(Bos Taurus)
Mammalia TMEM43 33 34
  • 86.42 (n)
rat
(Rattus norvegicus)
Mammalia Tmem43 33
  • 85.83 (n)
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 83 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 78 (a)
ManyToMany
-- 34
  • 76 (a)
ManyToMany
chicken
(Gallus gallus)
Aves TMEM43 33
  • 70.52 (n)
-- 34
  • 70 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 63 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia tmem43 33
  • 64.1 (n)
zebrafish
(Danio rerio)
Actinopterygii tmem43 33 34
  • 59.83 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG8111 33 34
  • 48.69 (n)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP005797 33
  • 46.41 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Pathogenic, Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302] 14,130,930(+) TGCAC(A/G)TCATT reference, missense
rs397514044 Pathogenic, Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302] 14,130,912(+) AGAAT(A/G)AAGGA reference, missense
rs63750743 Pathogenic, Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400] 14,141,665(+) CACCT(C/T)GCTGA reference, missense
rs193922706 Likely pathogenic 14,141,742(+) TGGCC(C/G/T)TTGTG reference, missense
rs376589026 Likely pathogenic 14,139,302(+) GGTAG(G/T)TGTTG intron-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)

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

(15) MalaCards diseases for TMEM43 Gene - From: HGMD, 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
  • emery-dreifuss muscular dystrophy 7, autosomal dominant
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 ND … Young TL (American journal of human genetics 2008) 2 3 4 22 45 60
  2. Toward 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 research 2001) 2 3 4 60
  3. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. (PMID: 21391237) Liang WC … Hayashi YK (Annals of neurology 2011) 3 4 60
  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 45 60
  5. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C … Brugada R (Clinical genetics 2010) 3 45 60

Products for TMEM43 Gene

Sources for TMEM43 Gene

Content
Loading form....