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    TMEM43 transmembrane protein 43 [ Homo sapiens (human) ]

    Gene ID: 79188, updated on 10-Dec-2024

    Summary

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    Official Symbol
    TMEM43provided by HGNC
    Official Full Name
    transmembrane protein 43provided by HGNC
    Primary source
    HGNC:HGNC:28472
    See related
    Ensembl:ENSG00000170876 MIM:612048; AllianceGenome:HGNC:28472
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    LUMA; ARVC5; ARVD5; AUNA3; EDMD7; EDMD7; AUNA2
    Summary
    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]
    Expression
    Ubiquitous expression in skin (RPKM 47.7), ovary (RPKM 42.5) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See TMEM43 in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (14125052..14143680)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (14126997..14145625)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14166552..14185180)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes Neighboring gene vomeronasal 1 receptor 21 pseudogene Neighboring gene coiled-coil-helix-coiled-coil-helix domain containing 4 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:14163053-14163787 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr3:14163788-14164523 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19496 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14088 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14165995-14166729 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14166730-14167464 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14185247-14185934 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19499 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14190053-14190737 Neighboring gene H3K27ac hESC enhancer GRCh37_chr3:14192355-14192855 Neighboring gene XPC antisense RNA 1 Neighboring gene XPC complex subunit, DNA damage recognition and repair factor Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 14090 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19500 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 19501 Neighboring gene LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Functional effects of the TMEM43 Ser358Leu mutation in the pathogenesis of arrhythmogenic right ventricular cardiomyopathy. Rajkumar R, et al. BMC Med Genet, 2012 Mar 29. PMID 22458570, Free PMC Article
    2. Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy. Shinomiya H, et al. FASEB J, 2021 Nov. PMID 34674311
    3. Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy. Paulin FL, et al. Heart Rhythm, 2020 Jul. PMID 32120009
    4. Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5. Dominguez F, et al. Heart Rhythm, 2020 Jun. PMID 32062046
    5. Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations. AbdelWahab A, et al. J Cardiovasc Electrophysiol, 2018 Jan. PMID 28960618

    See all (125) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.
      Title: Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.
    2. A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
      Title: A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder.
    3. Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy.
      Title: Aberrant accumulation of TMEM43 accompanied by perturbed transmural gene expression in arrhythmogenic cardiomyopathy.
    4. Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy.
      Title: Exercise and arrhythmic risk in TMEM43 p.S358L arrhythmogenic right ventricular cardiomyopathy.
    5. Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.
      Title: Clinical characteristics and determinants of the phenotype in TMEM43 arrhythmogenic right ventricular cardiomyopathy type 5.
    6. Five TMEM43 mutations have been described resulting in clinical phenotype that presents significantly earlier in males, shows biventricular involvement and is characterised by a high incidence of premature Sudden Cardiac Death and severe Heart Failure in survivors.
      Title: Arrhythmogenic cardiomyopathies (ACs): diagnosis, risk stratification and management.
    7. Arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations were more likely to have biventricular arrhythmogenic substrate and more inducible ventricular tachycardias.
      Title: Ventricular tachycardia ablation in arrhythmogenic right ventricular cardiomyopathy patients with TMEM43 gene mutations.
    8. TMEM43 deficiency significantly affects colony formation, survival of anoikis-induced cell death, migration and invasion of cancer cells in vitro, as well as tumor progression in vivo.
      Title: TMEM43/LUMA is a key signaling component mediating EGFR-induced NF-κB activation and tumor progression.
    9. A very rare mutation in TMEM 43 for the development of Arrhythmogenic cardiomyopathy has a definite connection with desmosomal proteins (plakoglobin) and justifies in a highly arrhythmogenic form of the disease.
      Title: Early and late manifestation of Brugada syndrome ECG in arrhythmogenic cardiomyopathy.
    10. Implantable cardioverter defibrillator therapy is indicated for primary prevention in postpubertal males and in females >/= 30 years with the p.S358L TMEM43 mutation.
      Title: Long-Term Clinical Outcome of Arrhythmogenic Right Ventricular Cardiomyopathy in Individuals With a p.S358L Mutation in TMEM43 Following Implantable Cardioverter Defibrillator Therapy.
    Submit: New GeneRIF Correction See all GeneRIFs (24)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Professional guidelines

    Description
    Professional guideline
    ACMG 2013

    The ACMG recommends that laboratories performing clinical sequencing seek and report mutations in TMEM43 that are pathogenic or expected to be pathogenic.

    GuidelinePubMed

    Associated conditions

    Description Tests
    Arrhythmogenic right ventricular cardiomyopathy
    MedGen: C0349788 GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview
    		not available
    Arrhythmogenic right ventricular dysplasia 5
    MedGen: C1858379 OMIM: 604400 GeneReviews: Arrhythmogenic Right Ventricular Cardiomyopathy Overview
    		not available
    Auditory neuropathy, autosomal dominant 3
    MedGen: C5676964 OMIM: 619832 GeneReviews: Not available
    		not available
    Emery-Dreifuss muscular dystrophy 7, autosomal dominant
    MedGen: C3553060 OMIM: 614302 GeneReviews: Not available
    		not available

    Copy number response

    Description
    Copy number response
    Haploinsufficency

    No evidence available (Last evaluated 2015-11-08)

    ClinGen Genome Curation Page
    Triplosensitivity

    No evidence available (Last evaluated 2015-11-08)

    ClinGen Genome Curation Page

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    Envelope surface glycoprotein gp120 env HIV-1 gp120 is identified to have a physical interaction with transmembrane protein 43 (TMEM43) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • MGC3222, DKFZp586G1919

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables identical protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in innate immune response IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in lipid metabolic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in nuclear membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within nuclear membrane organization IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in Golgi apparatus IDA
    Inferred from Direct Assay
    more info
    		  
    located_in endoplasmic reticulum lumen IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in endoplasmic reticulum membrane IEA
    Inferred from Electronic Annotation
    more info
    		  
    is_active_in nuclear inner membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transmembrane protein 43
    NP_001394203.1
    NP_001394204.1
    NP_001394205.1
    NP_001394206.1
    NP_001394207.1
    NP_001394208.1
    NP_001394209.1
    NP_077310.1

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_008975.1 RefSeqGene

      Range
      5001..23741
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_435

    mRNA and Protein(s)

    1. NM_001407274.1 → NP_001394203.1  transmembrane protein 43 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090004

    2. NM_001407275.1 → NP_001394204.1  transmembrane protein 43 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC090004

    3. NM_001407276.1 → NP_001394205.1  transmembrane protein 43 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090004

    4. NM_001407277.1 → NP_001394206.1  transmembrane protein 43 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC090004

    5. NM_001407278.1 → NP_001394207.1  transmembrane protein 43 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC090004

    6. NM_001407279.1 → NP_001394208.1  transmembrane protein 43 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC090004

    7. NM_001407280.1 → NP_001394209.1  transmembrane protein 43 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC090004

    8. NM_024334.3 → NP_077310.1  transmembrane protein 43 isoform 1

      See identical proteins and their annotated locations for NP_077310.1

      Status: REVIEWED

      Source sequence(s)
      AY358625, BC003125
      Consensus CDS
      CCDS2618.1
      UniProtKB/Swiss-Prot
      Q7L4N5, Q8NC30, Q96A63, Q96F19, Q96JX0, Q9BTV4, Q9H076
      UniProtKB/TrEMBL
      A0A024R2F9, A0A0S2Z5Q4
      Related
      ENSP00000303992.5, ENST00000306077.5
      Conserved Domains (1) summary
      pfam07787
      Location:122 → 373
      TMEM43; Transmembrane protein 43

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      14125052..14143680
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      14126997..14145625
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BTV4.1 GenPept UniProtKB/Swiss-Prot:Q9BTV4

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
    Tools