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    TMEM43 transmembrane protein 43 [ Homo sapiens (human) ]

    Gene ID: 79188, updated on 18-May-2023

    Summary

    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
    NEW
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    Genomic context

    See TMEM43 in Genome Data Viewer
    Location:
    3p25.1
    Exon count:
    12
    Annotation release Status Assembly Chr Location
    RS_2023_03 current GRCh38.p14 (GCF_000001405.40) 3 NC_000003.12 (14125052..14143680)
    RS_2023_03 current T2T-CHM13v2.0 (GCF_009914755.1) 3 NC_060927.1 (14126997..14145625)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 3 NC_000003.11 (14166552..14185180)

    Chromosome 3 - NC_000003.12Genomic Context describing neighboring genes 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 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 H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:14190053-14190737 Neighboring gene XPC complex subunit, DNA damage recognition and repair factor

    Genomic regions, transcripts, and products

    Expression

    • 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    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

    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

    HIV-1 interactions

    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

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    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 
    enables protein self-association IEA
    Inferred from Electronic Annotation
    more info
     
    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
    PubMed 
    involved_in nuclear membrane organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    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 envelope IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    located_in nuclear inner membrane IEA
    Inferred from Electronic Annotation
    more info
     
    located_in plasma membrane IEA
    Inferred from Electronic Annotation
    more info
     

    General protein information

    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)

    NEW Try the new Transcript table

    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_001407274.1NP_001394203.1  transmembrane protein 43 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC090004
    2. NM_001407275.1NP_001394204.1  transmembrane protein 43 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC090004
    3. NM_001407276.1NP_001394205.1  transmembrane protein 43 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AC090004
    4. NM_001407277.1NP_001394206.1  transmembrane protein 43 isoform 5

      Status: REVIEWED

      Source sequence(s)
      AC090004
    5. NM_001407278.1NP_001394207.1  transmembrane protein 43 isoform 6

      Status: REVIEWED

      Source sequence(s)
      AC090004
    6. NM_001407279.1NP_001394208.1  transmembrane protein 43 isoform 7

      Status: REVIEWED

      Source sequence(s)
      AC090004
    7. NM_001407280.1NP_001394209.1  transmembrane protein 43 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC090004
    8. NM_024334.3NP_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
      Q9BTV4, Q9H076
      UniProtKB/TrEMBL
      A0A024R2F9, A0A0S2Z5Q4
      Related
      ENSP00000303992.5, ENST00000306077.5
      Conserved Domains (1) summary
      pfam07787
      Location:122373
      TMEM43; Transmembrane protein 43

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_03

    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)