The TMEM43 gene homepage

General information
Gene symbol TMEM43
Gene name transmembrane protein 43
Chromosome 3
Chromosomal band p25.1
Imprinted Unknown
Genomic reference LRG_435
Transcript reference NM_024334.2
Exon/intron information NM_024334.2 exon/intron table
Associated with diseases ARVD-5, EDMD-7
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Paul van der Zwaag
Total number of public variants reported 300
Unique public DNA variants reported 161
Individuals with public variants 237
Hidden variants 1
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created January 23, 2009
Date last updated February 08, 2021
Version TMEM43:210208

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_024334.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/TMEM43
External URL ARVD/C genetic variants database
HGNC 28472
Entrez Gene 79188
PubMed articles TMEM43
OMIM - Gene 612048
OMIM - Diseases ARVD-5 (dysplasia, ventricular, right, arrhythmogenic, type 5 (ARVD-5))
EDMD-7 (dystrophy, muscular, Emery-Dreifuss, type 7, autosomal dominant (EDMD-7))
HGMD TMEM43
GeneCards TMEM43
GeneTests TMEM43
Orphanet TMEM43


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021284 3 transmembrane protein 43 NM_024334.2 NP_077310.1 300


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