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
IDBP-19952 transmembrane protein 43
IDBP-365215 transmembrane protein 43
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 4 experimentally validated interaction(s) in this database.
Experimentally validated
Total 4 [view]
Protein‑Protein  3
[view]
Protein‑DNA 1
[view]
Protein‑RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
 
Gene Ontology
Accession GO Term
Molecular Function
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
ENSMUSG00000030095 Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
ENSBTAG00000007360 Not yet available Ortholuge Non-SSD Ortholog Possible paralog/unusual divergence/ gene prediction error
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
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