Free for academic non-profit institutions. Other users need a Commercial license
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]
TMEM43 (Transmembrane Protein 43) is a Protein Coding gene. Diseases associated with TMEM43 include Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 and Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant. Gene Ontology (GO) annotations related to this gene include protein self-association. An important paralog of this gene is ENSG00000268279.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IPI | 21391237 |
GO:0043621 | protein self-association | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IEA | -- |
GO:0005637 | nuclear inner membrane | IEA | -- |
GO:0005639 | integral component of nuclear inner membrane | IBA | 21873635 |
GO:0005783 | endoplasmic reticulum | IEA | -- |
GO:0005788 | endoplasmic reticulum lumen | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0071763 | nuclear membrane organization | IDA | 18230648 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12a | · | 12b | ^ | 13a | · | 13b |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||||||
SP3: | - | - | - | ||||||||||||||||||||||||||||||||||
SP4: | |||||||||||||||||||||||||||||||||||||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
chimpanzee (Pan troglodytes) |
Mammalia | TMEM43 33 32 |
|
OneToOne | |
dog (Canis familiaris) |
Mammalia | TMEM43 33 32 |
|
OneToOne | |
mouse (Mus musculus) |
Mammalia | Tmem43 17 33 32 |
|
||
cow (Bos Taurus) |
Mammalia | TMEM43 33 32 |
|
OneToOne | |
rat (Rattus norvegicus) |
Mammalia | Tmem43 32 |
|
||
oppossum (Monodelphis domestica) |
Mammalia | -- 33 |
|
OneToMany | |
platypus (Ornithorhynchus anatinus) |
Mammalia | -- 33 |
|
ManyToMany | |
-- 33 |
|
ManyToMany | |||
chicken (Gallus gallus) |
Aves | TMEM43 32 |
|
||
-- 33 |
|
OneToMany | |||
lizard (Anolis carolinensis) |
Reptilia | -- 33 |
|
OneToMany | |
tropical clawed frog (Silurana tropicalis) |
Amphibia | tmem43 32 |
|
||
zebrafish (Danio rerio) |
Actinopterygii | tmem43 33 32 |
|
OneToMany | |
fruit fly (Drosophila melanogaster) |
Insecta | CG8111 33 32 |
|
OneToMany | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005797 32 |
|
||
sea squirt (Ciona savignyi) |
Ascidiacea | -- 33 |
|
OneToMany |
SNP ID | Clin | Chr 03 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
rs1021721320 | likely-benign, not specified, not provided | 14,129,495(+) | C/T | 5_prime_UTR_variant, coding_sequence_variant, synonymous_variant | |
rs1035334505 | likely-benign, not specified, Cardiomyopathy | 14,141,756(+) | T/C/G | coding_sequence_variant, synonymous_variant | |
rs1043943 | likely-benign, benign, Arrhythmogenic right ventricular cardiomyopathy, Xeroderma pigmentosum | 14,141,910(+) | T/C | 3_prime_UTR_variant | |
rs1043953 | likely-benign, Arrhythmogenic right ventricular cardiomyopathy, Xeroderma pigmentosum | 14,142,258(+) | A/G | 3_prime_UTR_variant | |
rs10468 | likely-benign, Xeroderma pigmentosum, Arrhythmogenic right ventricular cardiomyopathy | 14,143,219(+) | T/C | 3_prime_UTR_variant |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv764e201 | CNV | deletion | 23290073 |
dgv793n67 | CNV | loss | 20364138 |
esv23267 | CNV | loss | 19812545 |
esv2658831 | CNV | deletion | 23128226 |
esv2724945 | CNV | deletion | 23290073 |
esv2724949 | CNV | deletion | 23290073 |
esv34163 | CNV | loss | 18971310 |
esv3561499 | CNV | deletion | 23714750 |
esv3595362 | CNV | loss | 21293372 |
esv4628 | CNV | loss | 18987735 |
nsv1011766 | CNV | gain | 25217958 |
nsv521096 | CNV | loss | 19592680 |
nsv589769 | CNV | loss | 21841781 |
nsv955318 | CNV | deletion | 24416366 |
Disorder | Aliases | PubMed IDs |
---|---|---|
arrhythmogenic right ventricular dysplasia, familial, 5 |
|
|
emery-dreifuss muscular dystrophy 7, autosomal dominant |
|
|
arrhythmogenic right ventricular cardiomyopathy |
|
|
emery-dreifuss muscular dystrophy 2, autosomal dominant |
|
|
familial isolated arrhythmogenic ventricular dysplasia, right dominant form |
|
|