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TMEM43 transmembrane protein 43 [ Homo sapiens (human) ]

Gene ID: 79188, updated on 3-Nov-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
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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 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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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 Variation Viewer (GRCh37.p13)

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