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TMEM43 Gene

protein-coding   GIFtS: 57
GCID: GC03P014142

Transmembrane Protein 43

(Previous name: arrhythmogenic right ventricular dysplasia 5)
(Previous symbol: ARVD5)
  See TMEM43-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Transmembrane Protein 431 2     Arrhythmogenic Right Ventricular Dysplasia 51
ARVD51 2 5     LUMA2
ARVC52 5     Protein LUMA3
EDMD72 5     

External Ids:    HGNC: 284721   Entrez Gene: 791882   Ensembl: ENSG000001708767   OMIM: 6120485   UniProtKB: Q9BTV43   

Export aliases for TMEM43 gene to outside databases


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary 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 emery-dreifuss muscular dystrophy 7, ad, and arrhythmogenic right ventricular dysplasia/cardiomyopathy 5. An important paralog of this gene is ENSG00000268279.

UniProtKB/Swiss-Prot: TMM43_HUMAN, Q9BTV4
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)

Gene Wiki entry for TMEM43 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000003.11  NC_018914.2  NT_022517.19  
Regulatory elements:
   Regulatory transcription factor binding sites in the TMEM43 gene promoter:
         SRF   E2F-3a   E2F-4   E2F-5   SRF (504 AA)   E2F-2   MEF-2A   E2F   E2F-1   aMEF-2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidTMEM43 promoter sequence
   Search Chromatin IP Primers for TMEM43

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat TMEM43


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 3p25.1   Ensembl cytogenetic band:  3p25.1   HGNC cytogenetic band: 3p25.1

TMEM43 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
TMEM43 gene location

GeneLoc information about chromosome 3         GeneLoc Exon Structure

GeneLoc location for GC03P014142:  view genomic region     (about GC identifiers)

Start:
14,166,440 bp from pter      End:
14,185,180 bp from pter
Size:
18,741 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: TMM43_HUMAN, Q9BTV4 (See protein sequence)
Recommended Name: Transmembrane protein 43  
Size: 400 amino acids; 44876 Da
Subunit: 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
Sequence caution: Sequence=BAB55396.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Secondary accessions: Q7L4N5 Q8NC30 Q96A63 Q96F19 Q96JX0 Q9H076

Explore the universe of human proteins at neXtProt for TMEM43: NX_Q9BTV4

Explore proteomics data for TMEM43 at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys99, Lys204, Lys210, Lys232
  • Modification sites at PhosphoSitePlus

  • See TMEM43 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_077310.1  
    ENSEMBL proteins: 
     ENSP00000303992   ENSP00000395617  

    TMEM43 Human Recombinant Protein Products:

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    Novus Biologicals TMEM43 Lysate
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    Browse Sino Biological Cell Lysates
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    Cloud-Clone Corp. Proteins for TMEM43

     
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    LSBio Antibodies in human, mouse, rat for TMEM43

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    Search eBioscience for ELISAs for TMEM43 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR012430 TMEM43_fam

    Graphical View of Domain Structure for InterPro Entry Q9BTV4

    ProtoNet protein and cluster: Q9BTV4

    1 Blocks protein domain: IPB012430 Protein of unknown function DUF1625

    UniProtKB/Swiss-Prot: TMM43_HUMAN, Q9BTV4
    Similarity: Belongs to the TMEM43 family


    Find genes that share domains with TMEM43           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: TMM43_HUMAN, Q9BTV4
    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)

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI--
         
    Find genes that share ontologies with TMEM43           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for TMEM43:
     Decreased Wnt reporter activit 

         1 MGI mutant phenotype (inferred from 2 alleles(MGI details for Tmem43):
     behavior/neurological 

    Find genes that share phenotypes with TMEM43           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for TMEM43
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for TMEM43

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for TMEM43
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for TMEM43

    miRNA
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    miRTarBase miRNAs that target TMEM43:
    hsa-mir-103a-3p (MIRT027185), hsa-mir-16-5p (MIRT001406), hsa-mir-15b-5p (MIRT046472), hsa-mir-7-5p (MIRT025854), hsa-mir-124-3p (MIRT022952)

    Block miRNA regulation of human, mouse, rat TMEM43 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM43 (see all 15):
    hsa-miR-31 hsa-miR-622 hsa-miR-3617 hsa-miR-132 hsa-miR-1297 hsa-miR-1233 hsa-miR-3658 hsa-miR-641
    SwitchGear 3'UTR luciferase reporter plasmidTMEM43 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM43

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    GenScript: all cDNA clones in your preferred vector: TMEM43 (NM_024334)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM43
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM43

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    Browse ESI BIO Cell Lines and PureStem Progenitors for TMEM43 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM43


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    TMM43_HUMAN, Q9BTV4: Endoplasmic reticulum (By similarity). 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)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5
    golgi apparatus4
    endoplasmic reticulum2
    peroxisome1
    plasma membrane1

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005637nuclear inner membrane IEA--
    GO:0005783endoplasmic reticulum IEA--
    GO:0005794Golgi apparatus IDA--
    GO:0016021integral component of membrane IEA--

    Find genes that share ontologies with TMEM43           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for TMEM43
    Interactions:

        Search GeneGlobe Interaction Network for TMEM43

    STRING Interaction Network Preview (showing 2 interactants - click image to see more details)

    4 Interacting proteins for TMEM43 (Q9BTV42, 3 ENSP000003039924) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FDFT1P372682, 3, ENSP000002205844MINT-65338 I2D: score=5 STRING: ENSP00000220584
    CFTRP135693I2D: score=1 
    SLC2A4P146723I2D: score=1 
    UBCENSP000003448184STRING: ENSP00000344818
    About this table

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for TMEM43 (TMM43)

    1 PharmGKB related drug/compound annotation for TMEM43 gene    About this table
    Drug/compound PharmGKB Annotation
    cisplatinCA  



    Find genes that share compounds with TMEM43           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for TMEM43 gene: 
    NM_024334.2  

    Unigene Cluster for TMEM43:

    Transmembrane protein 43
    Hs.517817  [show with all ESTs]
    Unigene Representative Sequence: NM_024334
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000306077(uc003byk.2 uc003byl.1) ENST00000432444
    miRNA
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    Block miRNA regulation of human, mouse, rat TMEM43 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate TMEM43 (see all 15):
    hsa-miR-31 hsa-miR-622 hsa-miR-3617 hsa-miR-132 hsa-miR-1297 hsa-miR-1233 hsa-miR-3658 hsa-miR-641
    SwitchGear 3'UTR luciferase reporter plasmidTMEM43 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat TMEM43
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    OriGene ORF clones in mouse, rat for TMEM43
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: TMEM43 (NM_024334)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for TMEM43
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM43
    Primer
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    OriGene qPCR primer pairs and template standards for TMEM43
    OriGene qSTAR qPCR primer pairs in human, mouse for TMEM43
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat TMEM43
      QuantiTect SYBR Green Assays in human, mouse, rat TMEM43
      QuantiFast Probe-based Assays in human, mouse, rat TMEM43

    Additional mRNA sequence: 

    AF086408.1 AK026869.1 AK027466.1 AK027757.1 AK027827.1 AK027877.1 AK075010.1 AK225589.1 
    AL136916.1 AY358625.1 BC003125.1 BC008054.2 BC011719.2 

    19 DOTS entries:

    DT.100708448  DT.456243  DT.95247398  DT.121643079  DT.100650193  DT.100811783  DT.100811793  DT.91671485 
    DT.100736396  DT.120856369  DT.92017911  DT.95247404  DT.97818752  DT.100811786  DT.100811791  DT.121627137 
    DT.91835947  DT.91885919  DT.97793562 

    Selected AceView cDNA sequences (see all 473):

    BU683667 BM700082 BF939854 BU849701 BU608783 AI453206 AA041537 CR601518 
    BF197684 AI922291 AA287665 BM722598 AA025597 AA283180 BM710005 AI500154 
    BE858754 Z45070 AK074073 CB120453 AW238864 AI147007 BG054837 BU619896 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for TMEM43    About this scheme

    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:                                                                                                                  


    ECgene alternative splicing isoforms for TMEM43

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    TMEM43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCAATTTCA
    TMEM43 Expression
    About this image

    TMEM43 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    TMEM43 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.517817

    UniProtKB/Swiss-Prot: TMM43_HUMAN, Q9BTV4
    Tissue specificity: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small
    intestine, thymus, prostate and testis

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    QuantiFast Probe-based Assays in human, mouse, rat TMEM43
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM43

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for TMEM43 gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Tmem431 , 5 transmembrane protein 431, 5 86.75(n)1
    93(a)1
      6 (40.54 cM)5
    741221  NM_028766.21  NP_083042.11 
     914737035 
    chicken
    (Gallus gallus)
    Aves TMEM431 transmembrane protein 43 70.52(n)
    70.35(a)
      416038  XM_414378.4  XP_414378.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    Uncharacterized protein
    63(a)
    1 → many
    2(169407906-169430379)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia tmem431 transmembrane protein 43 64.1(n)
    62.21(a)
      100495534  XM_002938231.2  XP_002938277.1 
    zebrafish
    (Danio rerio)
    Actinopterygii tmem431 transmembrane protein 43 59.83(n)
    53.24(a)
      406520  NM_213238.1  NP_998403.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG81111 CG8111 48.69(n)
    36.67(a)
      38881  NM_139905.3  NP_648162.2 


    ENSEMBL Gene Tree for TMEM43 (if available)
    TreeFam Gene Tree for TMEM43 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for TMEM43 gene
    ENSG000002682792  
    1 SIMAP similar gene for TMEM43 using alignment to 2 protein entries:     TMM43_HUMAN (see all proteins):
    FLJ00144

    Find genes that share paralogs with TMEM43           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for TMEM43 (see all 532)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0444384
    Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5)4--see VAR_0444382 S L mis40--------
    VAR_0697944
    Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)4--see VAR_0697942 E K mis40--------
    VAR_0697954
    Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)4--see VAR_0697952 I V mis40--------
    rs637507431,2
    Cpathogenic114118762(+) CACCTC/TGCTGA 2 S L mis10--------
    rs1134493571,2
    C,Fprobable-pathogenic114116328(+) GCCTGC/TGGGCA 2 R W mis12Minor allele frequency- T:0.01NA EU 5873
    rs1939227061,2
    Cprobable-pathogenic114118839(+) TGGCCC/GTTGTG 2 L V mis10--------
    rs1137458591,2
    Cunknown114107905(+) CACTCC/TCCTTT 1 -- int12Minor allele frequency- T:0.12CSA WA 120
    rs1939227071,2
    Cunknown114112920(+) TGCCCA/GGCAGC 2 Q R mis10--------
    rs1506725671,2
    --14100051(+) GGCAGA/GCAGGG 1 -- us2k10--------
    rs1398452961,2
    C--14100096(+) TGGGAC/TCATTT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for TMEM43 (14166440 - 14185180 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for TMEM43:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2724949CNV Deletion23290073
    dgv811e201CNV Deletion23290073
    esv4628CNV Deletion18987735
    esv2658831CNV Deletion23128226
    esv2724945CNV Deletion23290073
    nsv876550CNV Loss21882294
    esv34163CNV Loss18971310
    nsv521096CNV Loss19592680
    dgv793n67CNV Loss20364138
    esv23267CNV Loss19812545

    Human Gene Mutation Database (HGMD): TMEM43
    Locus Specific Mutation Databases (LSDB): TMEM43

    Site Specific Mutation Identification with PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 612048   
    OMIM disorders: 604400  614302  
    UniProtKB/Swiss-Prot: TMM43_HUMAN, Q9BTV4
  • 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. 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. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 8 diseases for TMEM43:    
    About MalaCards
    emery-dreifuss muscular dystrophy 7, ad    arrhythmogenic right ventricular dysplasia/cardiomyopathy 5    arrhythmogenic right ventricular dysplasia 5    arrhythmogenic right ventricular dysplasia
    emery-dreifuss muscular dystrophy 2, ad    familial isolated arrhythmogenic ventricular dysplasia, biventricular form    familial isolated arrhythmogenic ventricular dysplasia, right dominant form    familial isolated arrhythmogenic ventricular dysplasia, left dominant form

    1 disease from the University of Copenhagen DISEASES database for TMEM43:
    Emery-Dreifuss muscular dystrophy

    Find genes that share disorders with TMEM43           About GenesLikeMe

    GeneTests: TMEM43
    GeneReviews: TMEM43
    Genetic Association Database (GAD): TMEM43
    Human Genome Epidemiology (HuGE) Navigator: TMEM43 (3 documents)

    Export disorders for TMEM43 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for TMEM43 gene, integrated from 10 sources (see all 42):
    (articles sorted by number of sources associating them with TMEM43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Arrhythmogenic right ventricular cardiomyopathy type 5 is a fully penetrant, lethal arrhythmic disorder caused by a missense mutation in the TMEM43 gene. (PubMed id 18313022)1, 2, 3, 4, 9 Merner N.D.... Young T.-L. (Am. J. Hum. Genet. 2008)
    2. Towards a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. (PubMed id 11230166)1, 2, 3 Wiemann S.... Poustka A. (Genome Res. 2001)
    3. TMEM43 mutations in Emery-Dreifuss muscular dystrophy-related myopathy. (PubMed id 21391237)1, 2 Liang W.C....Hayashi Y.K. (Ann. Neurol. 2011)
    4. Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia. (PubMed id 19863551)1, 4 Barahona-Dussault C.... Brugada R. (Clin. Genet. 2010)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. LUMA interacts with emerin and influences its distribution at the inner nuclear membrane. (PubMed id 18230648)1, 2 Bengtsson L. and Otto H. (J. Cell Sci. 2008)
    7. Signal sequence and keyword trap in silico for selection of full- length human cDNAs encoding secretion or membrane proteins from oligo- capped cDNA libraries. (PubMed id 16303743)1, 2 Otsuki T....Isogai T. (DNA Res. 2005)
    8. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    9. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    10. The natural history of a genetic subtype of arrhythmogenic right ventricular cardiomyopathy caused by a p.S358L mutation in TMEM43. (PubMed id 22725725)1 Hodgkinson K.A....Parfrey P.S. (Clin. Genet. 2013)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
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      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 79188 HGNC: 28472 AceView: MGC3222 Ensembl:ENSG00000170876 euGenes: HUgn79188
    ECgene: TMEM43 H-InvDB: TMEM43

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for TMEM43 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for TMEM43 gene:
    Search GeneIP for patents involving TMEM43

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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