TMEM43

TMEM43
Identifiers
Aliases	TMEM43, ARVC5, ARVD5, EDMD7, LUMA, transmembrane protein 43, AUNA3, EDMD7; AUNA2
External IDs	OMIM: 612048; MGI: 1921372; HomoloGene: 11532; GeneCards: TMEM43; OMA:TMEM43 - orthologs
Gene location (Human)
Chr.	Chromosome 3 (human)
End	14,143,680 bp
Gene location (Mouse)
Chr.	Chromosome 6 (mouse)
End	91,465,445 bp
RNA expression pattern
	Top expressed in
	Descending thoracic aorta; ; ascending aorta; ; right coronary artery; ; tibial arteries; ; skin of abdomen; ; skin of hip; ; skin of leg; ; tendon of biceps brachii; ; left coronary artery; ; body of uterus;
	Top expressed in
	lactiferous gland; ; lip; ; granulocyte; ; esophagus; ; calvaria; ; ascending aorta; ; stroma of bone marrow; ; white adipose tissue; ; ankle; ; muscle of thigh;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protein binding; protein self-association;
Cellular component	integral component of membrane; nuclear inner membrane; Golgi apparatus; endoplasmic reticulum; membrane; nucleus; integral component of nuclear inner membrane; endoplasmic reticulum lumen;
Biological process	nuclear membrane organization;
	Sources:Amigo / QuickGO
Orthologs
	79188
	74122
	ENSG00000170876
	ENSMUSG00000030095
	Q9BTV4
	Q9DBS1
	NM_024334
	NM_028766
	NP_077310
	NP_083042
	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]

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000170876 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000030095 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ 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.
^ EntrezGene 79188
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ 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.
^ "OMIM Entry #614302 EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7". omim.org. Retrieved 29 August 2017.

External links

This article on a gene on human chromosome 3 is a stub. You can help Wikipedia by expanding it.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000170876 – Ensembl, May 2017

[refGRCm38Ensembl-2] 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.

[pmid11230166-5] 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.

[entrez-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.

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