TMEM43

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]

AliasesTMEM43, ARVC5, ARVD5, EDMD7, LUMA, transmembrane protein 43, AUNA3, EDMD7; AUNA2

External IDsOMIM: 612048; MGI: 1921372; HomoloGene: 11532; GeneCards: TMEM43; OMA:TMEM43 - orthologs

Chr.Chromosome 3 (human)^[1]

End14,143,680 bp^[1]

Quick facts Identifiers, Aliases ...

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)[1] Band 3p25.1 Start 14,125,015 bp[1] End 14,143,680 bp[1]
Gene location (Mouse) Chr. Chromosome 6 (mouse)[2] Band 6|6 D1 Start 91,450,685 bp[2] End 91,465,445 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) 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 BioGPS 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 Species Human Mouse Entrez 79188 74122 Ensembl ENSG00000170876 ENSMUSG00000030095 UniProt Q9BTV4 Q9DBS1 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]
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