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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... See more...
Aliases for TMEM43 Gene
Aliases for TMEM43 Gene
External Ids for TMEM43 Gene
- HGNC: 28472
- Entrez Gene: 79188
- Ensembl: ENSG00000170876
- OMIM: 612048
- UniProtKB: Q9BTV4
Previous HGNC Symbols for TMEM43 Gene
- ARVD5
Previous GeneCards Identifiers for TMEM43 Gene
- GC03P014142
Summaries for TMEM43 Gene
-
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]
GeneCards Summary for TMEM43 Gene
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.
UniProtKB/Swiss-Prot Summary for TMEM43 Gene
-
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 (By similarity).
Additional gene information for TMEM43 Gene
- Monarch Initiative
- Search for TMEM43 at DataMed
- Search for TMEM43 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TMEM43 Gene
Genomics for TMEM43 Gene
GeneHancer (GH) Regulatory Elements for TMEM43 Gene
Promoters and enhancers for TMEM43 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around TMEM43 on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the TMEM43 gene promoter:
-
- aMEF-2
- E2F
- E2F-1
- E2F-2
- E2F-3a
- E2F-4
- E2F-5
- MEF-2A
- SRF
- SRF (504 AA)
Genomic Locations for TMEM43 Gene
Genomic Locations for TMEM43 Gene
- chr3:14,124,940-14,143,680
- (GRCh38/hg38)
- Size:
- 18,741 bases
- Orientation:
- Plus strand
- chr3:14,166,440-14,185,180
- (GRCh37/hg19)
- Size:
- 18,741 bases
- Orientation:
- Plus strand
Genomic View for TMEM43 Gene
Genes around TMEM43 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 3p25.1 by HGNC
- 3p25.1 by Entrez Gene
- 3p25.1 by Ensembl
TMEM43 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for TMEM43 Gene
Proteins for TMEM43 Gene
-
Protein details for TMEM43 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9BTV4-TMM43_HUMAN
- Recommended name:
- Transmembrane protein 43
- Protein Accession:
- Q9BTV4
- Q7L4N5
- Q8NC30
- Q96A63
- Q96F19
- Q96JX0
- Q9H076
Protein attributes for TMEM43 Gene
- Size:
- 400 amino acids
- Molecular mass:
- 44876 Da
- Quaternary structure:
-
- Can form oligomers through the transmembrane domains. Interacts with EMD; the interaction retains EMD at the inner nuclear membrane. Interacts with LMNA and LMNB2 (By similarity). Interacts with SUN2.
- SequenceCaution:
-
- Sequence=BAB55396.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};
Protein Expression for TMEM43 Gene
Post-translational modifications for TMEM43 Gene
Other Protein References for TMEM43 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Atlas Antibodies Anti-TMEM43 Antibody
- Creative Diagnostics Anti-TMEM43 monoclonal antibody, clone FQS26489(C)
- Novus Biologicals Antibodies for TMEM43
- Invitrogen Antibodies for TMEM43 (AFLGC-TMEM43)
-
Santa Cruz Biotechnology (SCBT) Antibodies for TMEM43
Protein Products
- Atlas Antibodies PrEST Antigen TMEM43
- Creative Biomart Recombinant Human TMEM43 293 Cell Lysate and Recombinant Human TMEM43
-
OriGene Purified Proteins for TMEM43
- Search Origene for MassSpec and Protein Over-expression Lysates for TMEM43
- Origene Custom Protein Services for TMEM43
- antibodies-online: Show 4 available TMEM43 Proteins ranked by validation data
- Compare Top TMEM43 Proteins
-
Quality Products:
No data available for DME Specific Peptides for TMEM43 Gene
Domains & Families for TMEM43 Gene
Gene Families for TMEM43 Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted membrane proteins
Protein Domains for TMEM43 Gene
- Blocks:
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for TMEM43 Gene
- GenScript: Design optimal peptide antigens:
-
- Protein LUMA (TMM43_HUMAN)
Graphical View of Domain Structure for InterPro Entry
Q9BTV4- Family:
-
- Belongs to the TMEM43 family.
Function for TMEM43 Gene
Molecular function for TMEM43 Gene
- UniProtKB/Swiss-Prot Function:
- 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 (By similarity).
Phenotypes From GWAS Catalog for TMEM43 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005515 | protein binding | IPI | 21391237 |
| GO:0043621 | protein self-association | IEA | -- |
Phenotypes for TMEM43 Gene
- MGI mutant phenotypes for TMEM43:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for TMEM43:
-
- Decreased viability ratio
- Increased transcriptional activity
- Strongly decreased NFAT1-GFP nuclear translocation
- Increased homologous recombination repair frequency
- Downregulation of Wnt pathway after Wnt3A stimulation
- Decreased viability
- no effect
- Increased vaccinia virus (VACV) infection
- Mildly decreased CFP-tsO45G cell surface transport
- Decreased IL-8 secretion
Animal Model Products
-
Taconic Biosciences Mouse Models for TMEM43
CRISPR Products
-
OriGene CRISPR knockouts for TMEM43
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM43
- genomics-online: gRNA clones - Search for available TMEM43 gRNA products
- Overview of 143 available TMEM43 gene related products
-
Recommended
- Applied Biological Materials (abm): CRISPR Clones for TMEM43 - Select products 50% OFF >
- * TMEM43 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * TMEM43 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM43
miRNA for TMEM43 Gene
- miRTarBase miRNAs that target TMEM43
-
- hsa-mir-16-5p (MIRT001406)
- hsa-mir-124-3p (MIRT022952)
- hsa-mir-7-5p (MIRT025854)
- hsa-mir-103a-3p (MIRT027185)
- hsa-mir-15b-5p (MIRT046472)
- hsa-mir-6776-5p (MIRT465868)
- hsa-mir-6812-5p (MIRT465869)
- hsa-mir-6819-5p (MIRT465870)
- hsa-mir-6737-5p (MIRT465871)
- hsa-mir-7977 (MIRT465872)
- hsa-mir-143-5p (MIRT465873)
- hsa-mir-3650 (MIRT465874)
- hsa-mir-6747-5p (MIRT465875)
- hsa-mir-608 (MIRT465876)
- hsa-mir-4651 (MIRT465877)
- hsa-mir-4664-5p (MIRT465878)
- hsa-mir-342-5p (MIRT465879)
- hsa-mir-4731-5p (MIRT465880)
- hsa-mir-6499-3p (MIRT465881)
- hsa-mir-7155-5p (MIRT465882)
- hsa-mir-4533 (MIRT465883)
- hsa-mir-4261 (MIRT465884)
- hsa-mir-1252-5p (MIRT465885)
- hsa-mir-4264 (MIRT465886)
- hsa-mir-1910-5p (MIRT465887)
- hsa-mir-455-3p (MIRT465888)
- hsa-mir-6876-5p (MIRT465889)
- hsa-mir-4476 (MIRT465890)
- hsa-mir-4496 (MIRT465891)
- hsa-mir-6859-5p (MIRT465892)
- hsa-mir-3916 (MIRT465893)
- hsa-mir-3125 (MIRT465894)
- hsa-mir-6758-5p (MIRT465895)
- hsa-mir-6856-5p (MIRT465896)
- hsa-mir-651-3p (MIRT465897)
- hsa-mir-5787 (MIRT520594)
- hsa-mir-4505 (MIRT520595)
- hsa-mir-6809-3p (MIRT665753)
- hsa-mir-6833-3p (MIRT665754)
- hsa-mir-4768-5p (MIRT665755)
- hsa-mir-4753-3p (MIRT665756)
- hsa-mir-340-5p (MIRT665757)
- hsa-mir-9-3p (MIRT665758)
- hsa-mir-2115-5p (MIRT665759)
- hsa-mir-627-3p (MIRT665760)
- hsa-mir-5590-3p (MIRT665761)
- hsa-mir-142-5p (MIRT665762)
- hsa-mir-4429 (MIRT665763)
- hsa-mir-320c (MIRT665764)
- hsa-mir-320a (MIRT665765)
- hsa-mir-320b (MIRT665766)
- hsa-mir-320d (MIRT665767)
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TMEM43
- Browse OriGene Inhibitory RNA Products For TMEM43
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM43
- genomics-online: shRNA clones - Search for available TMEM43 shRNA products
- Overview of 143 available TMEM43 gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for TMEM43
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM43
- genomics-online: cdna clones - Search for available TMEM43 CDNA products
- Overview of 143 available TMEM43 gene related products
-
Recommended
- orf clones - Search for available TMEM43 ORF products
- Overview of 143 available TMEM43 gene related products
-
Recommended
- Applied Biological Materials (abm): Clones for TMEM43 - Select products 50% OFF >
- * TMEM43 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * TMEM43 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
Cell Line Products
-
Horizon Cell Lines for TMEM43
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for TMEM43 Gene
Localization for TMEM43 Gene
Subcellular locations from UniProtKB/Swiss-Prot for TMEM43 Gene
- Endoplasmic reticulum. Nucleus inner membrane; Multi-pass membrane protein. Note=Retained in the inner nuclear membrane through interaction with EMD and A- and B-lamins. The N- and C-termini are oriented towards the nucleoplasm. The majority of the hydrophilic domain resides in the endoplasmic reticulum lumen (By similarity). {ECO:0000250}.
| Compartment | Confidence |
|---|---|
| nucleus | 5 |
| golgi apparatus | 4 |
| plasma membrane | 3 |
| endoplasmic reticulum | 2 |
| cytoskeleton | 1 |
| peroxisome | 0 |
| 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 | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for TMEM43 Gene
Pathways & Interactions for TMEM43 Gene
Interacting Proteins for TMEM43 Gene
Selected Interacting proteins:
Q9BTV4-TMM43_HUMAN
ENSP00000303992
for TMEM43 Gene via
UniProtKB
STRING
IID
GPS-Prot Interaction Network for TMEM43
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0071763 | nuclear membrane organization | IDA | 18230648 |
No data available for Pathways by source and SIGNOR curated interactions for TMEM43 Gene
Drugs & Compounds for TMEM43 Gene
No Compound Related Data Available
Drug Products
- Atlas Antibodies PrEST Antigen TMEM43
- Creative Biomart Recombinant Human TMEM43 293 Cell Lysate and Recombinant Human TMEM43
Transcripts for TMEM43 Gene
mRNA/cDNA for TMEM43 Gene
- (1) REFSEQ mRNAs :
- (17) Additional mRNA sequences :
- (473) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000306077 3341 bps (ENST00000306077.4)
- ENST00000432444 908 bps (ENST00000432444.1)
CRISPR Products
-
OriGene CRISPR knockouts for TMEM43
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM43
- genomics-online: gRNA clones - Search for available TMEM43 gRNA products
- Overview of 143 available TMEM43 gene related products
-
Recommended
- Applied Biological Materials (abm): CRISPR Clones for TMEM43 - Select products 50% OFF >
- * TMEM43 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * TMEM43 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
Santa Cruz Biotechnology (SCBT) CRISPR for TMEM43
miRNA Products
Inhibitory RNA Products
- Origene sirna, shrna, and RNAi products in human, mouse, rat for TMEM43
- Browse OriGene Inhibitory RNA Products For TMEM43
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TMEM43
- genomics-online: shRNA clones - Search for available TMEM43 shRNA products
- Overview of 143 available TMEM43 gene related products
-
Recommended
Clone Products
- Sino Biological Human cDNA Clone for TMEM43
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for TMEM43
- genomics-online: cdna clones - Search for available TMEM43 CDNA products
- Overview of 143 available TMEM43 gene related products
-
Recommended
- orf clones - Search for available TMEM43 ORF products
- Overview of 143 available TMEM43 gene related products
-
Recommended
- Applied Biological Materials (abm): Clones for TMEM43 - Select products 50% OFF >
- * TMEM43 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * TMEM43 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
| 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: |
Expression for TMEM43 Gene
This gene is overexpressed in Nasal epithelium (12.8) and Placenta (6.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for TMEM43 Gene
- Elite partner
NURSA nuclear receptor signaling pathways regulating expression of TMEM43 Gene:
TMEM43SOURCE GeneReport for Unigene cluster for TMEM43 Gene:
Hs.517817mRNA Expression by UniProt/SwissProt for TMEM43 Gene:
Q9BTV4-TMM43_HUMAN
Tissue specificity:
Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis.
Evidence on tissue expression from TISSUES for TMEM43 Gene
- Nervous system(4.9)
- Thyroid gland(4.3)
- Liver(4.2)
- Heart(2.7)
- Lung(2.7)
- Kidney(2.5)
- Muscle(2.5)
- Skin(2.1)
Phenotype-based relationships between genes and organs from Gene ORGANizer for TMEM43 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- nervous
- respiratory
- skeletal muscle
- skeleton
- urinary
Regions:
Head and neck:
- brain
- ear
- head
- neck
Thorax:
- heart
- heart valve
- lung
- scapula
Abdomen:
- kidney
Limb:
- arm
- elbow
- foot
- lower limb
- upper limb
General:
- blood
- blood vessel
- spinal column
- vertebrae
Primer Products
-
OriGene qPCR primer pairs for TMEM43
-
OriGene qPCR primer pairs and template standards for TMEM43
- genomics-online: primer clones - Search for available TMEM43 Primer products
- Overview of 143 available TMEM43 gene related products
-
Recommended
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA differential expression in normal tissues for TMEM43 Gene
Orthologs for TMEM43 Gene
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 |
- Species where no ortholog for TMEM43 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- alpha proteobacteria (Wolbachia pipientis)
- amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- baker's yeast (Saccharomyces cerevisiae)
- barley (Hordeum vulgare)
- beta proteobacteria (Neisseria meningitidis)
- bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- common water flea (Daphnia pulex)
- corn (Zea mays)
- E. coli (Escherichia coli)
- filamentous fungi (Aspergillus nidulans)
- Firmicute bacteria (Streptococcus pneumoniae)
- fission yeast (Schizosaccharomyces pombe)
- green algae (Chlamydomonas reinhardtii)
- honey bee (Apis mellifera)
- K. lactis yeast (Kluyveromyces lactis)
- loblloly pine (Pinus taeda)
- malaria parasite (Plasmodium falciparum)
- medicago trunc (Medicago Truncatula)
- moss (Physcomitrella patens)
- orangutan (Pongo pygmaeus)
- pig (Sus scrofa)
- rainbow trout (Oncorhynchus mykiss)
- rice (Oryza sativa)
- rice blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- thale cress (Arabidopsis thaliana)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
- worm (Caenorhabditis elegans)
Evolution for TMEM43 Gene
- ENSEMBL:
- Gene Tree for TMEM43 (if available)
- TreeFam:
- Gene Tree for TMEM43 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for TMEM43: view image
Paralogs for TMEM43 Gene
Paralogs for TMEM43 Gene
(1) SIMAP similar genes for TMEM43 Gene using alignment to 2 proteins:
- TMM43_HUMAN
- F8WDL3_HUMAN
Variants for TMEM43 Gene
| 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 |
Residual Variation Intolerance Score:
96.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
17.37;
98.17% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for TMEM43 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TMEM43 Gene
Disorders for TMEM43 Gene
(14) MalaCards diseases for TMEM43 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| 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 |
|
|
Search TMEM43 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
TMM43_HUMAN- Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) [MIM:604400]: A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias. {ECO:0000269 PubMed:18313022}. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) [MIM:614302]: A form of Emery-Dreifuss muscular dystrophy, a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system, early contractures of the elbows, Achilles tendons and spine, and cardiomyopathy associated with cardiac conduction defects. {ECO:0000269 PubMed:21391237}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for TMEM43
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for TMEM43 Gene
Publications for TMEM43 Gene
- Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. (PMID: 18313022) Merner ND … Young TL (American journal of human genetics 2008) 2 3 4 23 43 56
- TMEM43/LUMA is a key signaling component mediating EGFR-induced NF-κB activation and tumor progression. (PMID: 27991920) Jiang C … Lin X (Oncogene 2017) 2 3 56
- TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. (PMID: 21391237) Liang WC … Hayashi YK (Annals of neurology 2011) 3 4 56
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 43 56
- Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PMID: 19863551) Barahona-Dussault C … Brugada R (Clinical genetics 2010) 3 43 56
ExternalLinks
Products for TMEM43 Gene
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- Novus Biologicals Antibodies for TMEM43
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- Taconic Biosciences Mouse Models for TMEM43
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- Invitrogen Antibodies for TMEM43 (AFLGC-TMEM43)
- antibodies-online: Show 9 available TMEM43 Antibodies ranked by validation data
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- antibodies-online: Search results for available TMEM43 related products ranked by validation data
- antibodies-online: Show 4 available TMEM43 Proteins ranked by validation data
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- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for TMEM43
- Search Santa Cruz Biotechnology (SCBT) for TMEM43 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for TMEM43
- Horizon Cell Lines for TMEM43
- genomics-online: cdna clones - Search for available TMEM43 CDNA products
- Overview of 143 available TMEM43 gene related products
- Recommended
- orf clones - Search for available TMEM43 ORF products
- Overview of 143 available TMEM43 gene related products
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- genomics-online: gRNA clones - Search for available TMEM43 gRNA products
- Overview of 143 available TMEM43 gene related products
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- Overview of 143 available TMEM43 gene related products
- Recommended
- genomics-online: shRNA clones - Search for available TMEM43 shRNA products
- Overview of 143 available TMEM43 gene related products
- Recommended
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for TMEM43
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- Search GeneCopoeia for miRNA 3'UTR Target clone products for TMEM43
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Sources for TMEM43 Gene
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