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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

TMEM43 Gene

protein-coding   GIFtS: 56
GCID: GC03P014142

transmembrane protein 43

 Explore 10 diseases affiliated with
TMEM43 via our new
 Human Malady Compendium 
Biological research products
for TMEM43
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Transmembrane Protein 431 2     DKFZp586G19191
LUMA1 2     MGC32221
ARVC52 5     Protein LUMA3
ARVD52 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for TMEM43:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000003.11  NC_018914.1  NT_022517.18  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for TMEM43

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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)
Subcellular location: 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)
Sequence caution: Sequence=BAB55396.1; Type=Erroneous initiation;
Secondary accessions: Q7L4N5 Q8NC30 Q96A63 Q96F19 Q96JX0 Q9H076

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BTV4

  • TMEM43 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_077310.1  
    ENSEMBL proteins: 
     ENSP00000303992   ENSP00000395617  

    Human Recombinant Protein Products: 
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    Novus Biologicals TMEM43 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for TMEM43

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

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


    TMEM43 for ontologies           About GeneDecksing



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    TMEM43 for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR012430 TMEM43_fam

    Graphical View of Domain Structure for InterPro Entry Q9BTV4

    ProtoNet protein and cluster: Q9BTV4

    1 Blocks protein family: IPB012430 Protein of unknown function DUF1625

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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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)

    miRNA
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    miRTarBase miRNAs that target TMEM43:
    hsa-mir-16 (MIRT001406)

    OriGene 3'-UTR Clone: TMEM43
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM43
    8/15 QIAGEN miScript miRNA 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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    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM43 (see all 7)
    OriGene shRNA RFP: TMEM43
    OriGene siRNA: TMEM43
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM43

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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM43 

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    Search LifeMap BioReagents cell lines for TMEM43

    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for TMEM43

    1 GenomeRNAi human phenotype for TMEM43:
     Decreased Wnt reporter activit 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section



    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks 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 HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for TMEM43
    Search CenterWatch for drugs/clinical trials and news about TMEM43 / TMM43 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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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    OriGene 3'-UTR Clone: TMEM43
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat TMEM43
    8/15 QIAGEN miScript miRNA 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
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for TMEM43 (see all 7)
    OriGene shRNA RFP: TMEM43
    OriGene siRNA: TMEM43
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat TMEM43
    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM43 (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for TMEM43
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    GenScript: all cDNA clones in your preferred vector: TMEM43 (NM_024334)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat TMEM43 
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    OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for TMEM43
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat TMEM43
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat TMEM43

    Additional cDNA 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 

    24/473 AceView cDNA sequences (see all 473):

    AA453991 BF197684 AA805449 AW673767 BU682422 CD742990 CA449817 AA011240 
    BX346003 AW615357 BE858754 AK027466 Z38939 CB149330 AI572738 CA437721 
    AI813856 BQ877047 BM710005 AA825493 W31306 CB120453 BM682041 AA931103 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    TMEM43 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AGCAATTTCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    See TMEM43 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for TMEM43

    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

        SABiosciences Custom PCR Arrays for TMEM43
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    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)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for TMEM43 gene from 5/18 species (see all 18)    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_414378.3  XP_414378.1 
    lizard
    (Anolis carolinensis)
    Reptilia TMEM436
    --
    69(a)
    1 ↔ 1
    2(169414278-169427181)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:859461 zgc:85946 59.83(n)
    53.24(a)
      406520  NM_213238.1  NP_998403.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG81111 CG8111 48.15(n)
    36.04(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)
    About This Section
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/412 NCBI SNPs in TMEM43 are shown (see all 412    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 3 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs637507431,2
    Cpathogenic118417181(+) CACCTC/TGCTGA 2 S L mis10--------
    rs1939227061,2
    C,probable-pathogenic118417104(+) TGGCCC/GTTGTG 2 L V mis10--------
    rs1134493571,2
    C,F,probable-pathogenic118419615(+) GCCTGC/TGGGCA 2 R W mis12Minor allele frequency- T:0.01NA EU 5873
    rs1137458591,2
    C,unknown118428038(+) CACTCC/TCCTTT 1 -- int12Minor allele frequency- T:0.12CSA WA 120
    rs713060791,2
    C--14099521(+) GGGGGC/TGGAGG 1 -- us2k11Minor allele frequency- T:0.50NA 2
    rs1121223591,2
    C,--14100039(+) AGGCCG/ACCTCC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs1136588241,2
    C,--14100042(+) CCACCT/ACCTTC 1 -- us2k11Minor allele frequency- A:0.50NA 2
    rs98398331,2
    C--14101131(+) CCTACA/CTTCCT 1 -- us2k10--------
    rs571969721,2
    F,--14101256(+) GAAGCC/TCGCGC 1 -- us2k11Minor allele frequency- T:0.13NA 120
    rs731426161,2
    C,--14102375(+) CCAACG/ATTCAT 1 -- int11Minor allele frequency- A:0.50WA 2

    HapMap Linkage Disequilibrium report for TMEM43 (14166440 - 14185180 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for TMEM43
         1 CNV: 48019
         2 Indels: 63406 43165
    Human Gene Mutation Database (HGMD): TMEM43

    Locus Specific Mutation Databases (LSDB): TMEM43

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing TMEM43
    DNA2.0 Custom Variant and Variant Library Synthesis for TMEM43

    (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.)
    About This Section

    TMEM43 for disorders           About GeneDecksing

    OMIM gene information: 612048   
    OMIM disorders: 604400  
    UniProtKB/Swiss-Prot: TMM43_HUMAN, Q9BTV4
  • Defects in TMEM43 are the cause of familial arrhythmogenic right ventricular dysplasia type 5 (ARVD5)
  • [MIM:604400]; also known as arrhythmogenic right ventricular cardiomyopathy (ARVC5). ARVD is an autosomal dominant
    disease characterized by partial degeneration of the myocardium of the right ventricle, electrical instability, and
    sudden death. It is clinically defined by electrocardiographic and angiographic criteria; pathologic findings,
    replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular
    free wall

    10 diseases for TMEM43:    About MalaCards
    arrhythmogenic right ventricular dysplasia    arrhythmogenic right ventricular dysplasia, familial, 5    emery-dreifuss muscular dystrophy    ventricular tachycardia
    cardiomyopathy    muscular dystrophy    autosomal dominant disease    genetic disease
    myopathy    prostatitis

    1 disease from the University of Copenhagen DISEASES database for TMEM43:
    Emery-Dreifuss muscular dystrophy
    GeneTests: TMEM43
    Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, Autosomal Dominant

    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)
    About This Section

    PubMed articles for TMEM43 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with TMEM43)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. 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. (2001)
    2. 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, 9 Merner N.D.... Young T.-L. (2008)
    3. LUMA interacts with emerin and influences its distribution at the inner nuclear membrane. (PubMed id 18230648)1, 2 Bengtsson L. and Otto H. (2008)
    4. 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. (2005)
    5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    6. 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. (2003)
    7. A census of human soluble protein complexes. (PubMed id 22939629)1 Havugimana P.C....Emili A. (2012)
    8. Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. (PubMed id 22458570)1 Rajkumar R....Ahmad F. (2012)
    9. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 Jager S....Krogan N.J. (2012)
    10. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 79188 HGNC: 28472 AceView: MGC3222 Ensembl:ENSG00000170876 euGenes: HUgn79188
    ECgene: TMEM43 H-InvDB: TMEM43

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    Patent Information for TMEM43 gene:
    Search GeneIP for patents involving TMEM43

    GeneCards and IP:
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