Homo sapiens Gene: TMEM43
Summary
InnateDB Gene IDBG-19950.5
Last Modified 2012-02-14 [Report errors or provide feedback]
Gene Symbol TMEM43
Gene Name transmembrane protein 43
Synonyms ARVC5; ARVD5; LUMA;
Species Homo sapiens
Ensembl Gene ENSG00000170876
Encoded Proteins
transmembrane protein 43
transmembrane protein 43
Protein Structure
Entrez Gene
Summary 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]
Gene Information
Type Protein coding
Genomic Location Chromosome 3:14166440-14185179
Strand Forward strand
Band p25.1
Transcripts
ENST00000306077 ENSP00000303992
ENST00000432444 ENSP00000395617
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 15 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 15 [view]
Protein-Protein 14 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
Biological Process
Cellular Component
GO:0005637 nuclear inner membrane
GO:0005783 endoplasmic reticulum
GO:0005794 Golgi apparatus
GO:0016021 integral to membrane
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Not yet available
Non-SSD Ortholog
Possible paralog/unusual divergence/ gene prediction error
Cross-References
SwissProt Q9BTV4
TrEMBL F8WDL3
UniProt Splice Variant
Entrez Gene 79188
UniGene Hs.517817
RefSeq NM_024334
HUGO 28472
OMIM 612048
CCDS CCDS2618
HPRD 15541
IMGT
EMBL AC090004 AK027466 AK027757 AK027827 AK027877 AK075010 AL136916 AY358625 BC003125 BC008054 BC011719
GenPept AAH03125 AAH08054 AAH11719 AAQ88988 BAB55131 BAB55348 BAB55396 BAB55425 BAC11350 CAB66850
ImmGen TMEM43 (murine)
RNA Seq Atlas 79188