TMEM43

Last updated
TMEM43
Identifiers
Aliases TMEM43 , ARVC5, ARVD5, EDMD7, LUMA, transmembrane protein 43, AUNA3, EDMD7; AUNA2
External IDs OMIM: 612048 MGI: 1921372 HomoloGene: 11532 GeneCards: TMEM43
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_024334

NM_028766

RefSeq (protein)

NP_077310

NP_083042

Location (UCSC) Chr 3: 14.13 – 14.14 Mb Chr 6: 91.45 – 91.47 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane protein 43 (also called luma) is a protein that in humans is encoded by the TMEM43 gene. [5] [6] TMEM43 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. However, the localization of TMEM43 in myocardial tissue is controversial discussed. Franke et al. demonstrated that TMEM43 is localized at the intercalated disc but not at the nuclear envelope. [7] In contrast Christensen et al. have shown that TMEM43 is mainly localized at the sarcolemma. [8] Mutations in TMEM43 are associated with ARVD [9] [10] [11] [12] and EDMD7. [13]

Contents


Related Research Articles

<span class="mw-page-title-main">Arrhythmogenic cardiomyopathy</span> Medical condition

Arrhythmogenic cardiomyopathy (ACM), arrhythmogenic right ventricular dysplasia (ARVD), or arrhythmogenic right ventricular cardiomyopathy (ARVC), most commonly is an inherited heart disease.

<span class="mw-page-title-main">Desmoglein-2</span> Protein-coding gene in the species Homo sapiens

Desmoglein-2 is a protein that in humans is encoded by the DSG2 gene. Desmoglein-2 is highly expressed in epithelial cells and cardiomyocytes. Desmoglein-2 is localized to desmosome structures at regions of cell-cell contact and functions to structurally adhere adjacent cells together. In cardiac muscle, these regions are specialized regions known as intercalated discs. Mutations in desmoglein-2 have been associated with arrhythmogenic right ventricular cardiomyopathy and familial dilated cardiomyopathy.

<span class="mw-page-title-main">Desmoplakin</span>

Desmoplakin is a protein in humans that is encoded by the DSP gene. Desmoplakin is a critical component of desmosome structures in cardiac muscle and epidermal cells, which function to maintain the structural integrity at adjacent cell contacts. In cardiac muscle, desmoplakin is localized to intercalated discs which mechanically couple cardiac cells to function in a coordinated syncytial structure. Mutations in desmoplakin have been shown to play a role in dilated cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy, where it may present with acute myocardial injury; striate palmoplantar keratoderma, Carvajal syndrome and paraneoplastic pemphigus.

<span class="mw-page-title-main">Ryanodine receptor 2</span> Transport protein and coding gene in humans

Ryanodine receptor 2 (RYR2) is one of a class of ryanodine receptors and a protein found primarily in cardiac muscle. In humans, it is encoded by the RYR2 gene. In the process of cardiac calcium-induced calcium release, RYR2 is the major mediator for sarcoplasmic release of stored calcium ions.

<span class="mw-page-title-main">DSC2</span> Protein-coding gene in the species Homo sapiens

Desmocollin-2 is a protein that in humans is encoded by the DSC2 gene. Desmocollin-2 is a cadherin-type protein that functions to link adjacent cells together in specialized regions known as desmosomes. Desmocollin-2 is widely expressed, and is the only desmocollin isoform expressed in cardiac muscle, where it localizes to intercalated discs. Mutations in DSC2 have been causally linked to arrhythmogenic right ventricular cardiomyopathy.

<span class="mw-page-title-main">AHI1</span> Protein-coding gene in the species Homo sapiens

The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development. Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain. AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development. An AHI1 heterozygous knockout mouse model was studied by Bernard Lerer and his group at Hadassah Medical Center in Jerusalem to elucidate the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.

<span class="mw-page-title-main">Plakophilin-2</span> Protein-coding gene in the species Homo sapiens

Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to link cadherins to intermediate filaments in the cytoskeleton. In cardiac muscle, plakophilin-2 is found in desmosome structures located within intercalated discs. Mutations in PKP2 have been shown to be causal in arrhythmogenic right ventricular cardiomyopathy.

<span class="mw-page-title-main">NSDHL</span> Protein-coding gene in the species Homo sapiens

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene. This enzyme is localized in the endoplasmic reticulum and is involved in cholesterol biosynthesis.

<span class="mw-page-title-main">Eyes absent homolog 4</span> Protein-coding gene in the species Homo sapiens

Eyes absent homolog 4 is a protein that in humans is encoded by the EYA4 gene.

<span class="mw-page-title-main">LDB3</span> Protein-coding gene in the species Homo sapiens

LIM domain binding 3 (LDB3), also known as Z-band alternatively spliced PDZ-motif (ZASP), is a protein which in humans is encoded by the LDB3 gene. ZASP belongs to the Enigma subfamily of proteins and stabilizes the sarcomere during contraction, through interactions with actin in cardiac and skeletal muscles. Mutations in the ZASP gene has been associated with several muscular diseases.

<span class="mw-page-title-main">TMEM50A</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 50A is a protein that in humans is encoded by the TMEM50A gene.

<span class="mw-page-title-main">MINPP1</span> Protein-coding gene in the species Homo sapiens

Multiple inositol polyphosphate phosphatase 1 is an enzyme that in humans is encoded by the MINPP1 gene.

<span class="mw-page-title-main">TMEM9</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 9 is a protein that in humans is encoded by the TMEM9 gene.

<span class="mw-page-title-main">CIAPIN1</span> Protein-coding gene in the species Homo sapiens

Anamorsin is a protein that in humans is encoded by the CIAPIN1 gene.

<span class="mw-page-title-main">TMEM47</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 47 is a protein that in humans is encoded by the TMEM47 gene.

<span class="mw-page-title-main">AP1AR</span> Protein-coding gene in the species Homo sapiens

AP-1 complex-associated regulatory protein is a protein that in humans is encoded by the AP1AR gene.

<span class="mw-page-title-main">NUDT12</span> Protein-coding gene in the species Homo sapiens

Peroxisomal NADH pyrophosphatase NUDT12 is an enzyme that in humans is encoded by the NUDT12 gene.

<span class="mw-page-title-main">TMEM49</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 49 is a protein that in humans is encoded by the TMEM49 gene.

<span class="mw-page-title-main">TMEM117</span> Protein-coding gene in the species Homo sapiens

Transmembrane protein 117 is a protein that in humans is encoded by the TMEM117 gene.

<span class="mw-page-title-main">COQ9</span> Protein-coding gene in the species Homo sapiens

Ubiquinone biosynthesis protein COQ9, mitochondrial, also known as coenzyme Q9 homolog (COQ9), is a protein that in humans is encoded by the COQ9 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000170876 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000030095 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Wiemann S, Weil B, Wellenreuther R, et al. (March 2001). "Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs". Genome Research. 11 (3): 422–35. doi:10.1101/gr.GR1547R. PMC   311072 . PMID   11230166.
  6. EntrezGene 79188
  7. Franke WW, Dörflinger Y, Kuhn C, et al. (July 2014). "Protein LUMA is a cytoplasmic plaque constituent of various epithelial adherens junctions and composite junctions of myocardial intercalated disks: a unifying finding for cell biology and cardiology". Cell and Tissue Research. 357 (1): 159–72. doi:10.1007/s00441-014-1865-1. PMID   24770932. S2CID   18099395.
  8. Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH (September 2011). "Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy". Clinical Genetics. 80 (3): 256–64. doi:10.1111/j.1399-0004.2011.01623.x. PMID   21214875. S2CID   5617616.
  9. Merner ND, Hodgkinson KA, Haywood AF, et al. (April 2008). "Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene". American Journal of Human Genetics. 82 (4): 809–21. doi:10.1016/j.ajhg.2008.01.010. PMC   2427209 . PMID   18313022.
  10. Christensen AH, Andersen CB, Tybjaerg-Hansen A, Haunso S, Svendsen JH (September 2011). "Mutation analysis and evaluation of the cardiac localization of TMEM43 in arrhythmogenic right ventricular cardiomyopathy". Clinical Genetics. 80 (3): 256–64. doi:10.1111/j.1399-0004.2011.01623.x. PMID   21214875. S2CID   5617616.
  11. Haywood AF, Merner ND, Hodgkinson KA, et al. (April 2013). "Recurrent missense mutations in TMEM43 (ARVD5) due to founder effects cause arrhythmogenic cardiomyopathies in the UK and Canada". European Heart Journal. 34 (13): 1002–11. doi: 10.1093/eurheartj/ehs383 . PMID   23161701.
  12. Baskin B, Skinner JR, Sanatani S, et al. (November 2013). "TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations". Human Genetics. 132 (11): 1245–52. doi:10.1007/s00439-013-1323-2. PMID   23812740. S2CID   16184868.
  13. "OMIM Entry #614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7". omim.org. Retrieved 29 August 2017.

Further reading