Skip to content
Use your HSA or FSA funds

Gene

TMEM43

transmembrane protein 43

Summary

Cytogenetic location
3p25.1
Coordinates
Chromosome 3: 14,125,052–14,143,680 (GRCh38)
Exons
12 exons across 18.6 kb
Protein
400 amino acids
Also known as
MGC3222, DKFZp586G1919, LUMA
Previous symbols
ARVD5
MANE Select transcript
ENST00000306077.5NM_024334.3
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Arrhythmogenic Cardiomyopathy

    • Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

      Progressive replacement of heart muscle by fat and scar tissue, mainly in the right ventricle, causing ventricular arrhythmias; usually caused by variants in the desmosome genes PKP2, DSP, DSG2, DSC2 and JUP, or in TMEM43, PLN or DES.

      • ClinGen rates the link definitive
      • 3 GenCC submitters rate it definitive or strong
      • On the ACMG secondary findings list
      What knowing changes

      A diagnosis supports regular rhythm monitoring, advice on limiting endurance exercise, decisions about implantable defibrillators and testing of relatives.

How TMEM43 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Variants with a page
Chromosome 3, with a bracket where TMEM43 sits. TMEM43 and 8 genes near it on chromosome 3, from 13,634,366 to 14,634,365.Chromosome 33p25.1p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q2913.8 Mb14 Mb14.2 Mb14.4 Mb14.6 MbFBLN2: 13,549,073–13,638,504, forward strandFBLN2WNT7A: 13,816,157–13,880,104, reverse strandWNT7ACHCHD4: 14,112,077–14,124,876, reverse strandCHCHD4TMEM43: 14,125,052–14,143,680, forward strandTMEM43: 14,135,217–14,148,252, forward strandXPC: 14,145,145–14,178,767, reverse strandXPCLSM3: 14,178,749–14,216,186, forward strandLSM3SLC6A6: 14,402,564–14,489,349, forward strandSLC6A6GRIP2: 14,489,107–14,556,075, reverse strandGRIP2Diagram of TMEM43: 12 exons on the forward strand of chromosome 3Exon 3: 1 known disease-causing siteExon 8: 1 known disease-causing siteExon 12: 1 known disease-causing siteExon 1: 14,125,052–14,125,205, 154 basesExon 2: 14,129,412–14,129,561, 150 basesExon 3: 14,130,822–14,130,956, 135 basesExon 4: 14,131,580–14,131,674, 95 basesExon 5: 14,132,546–14,132,595, 50 basesExon 6: 14,132,866–14,132,935, 70 basesExon 7: 14,133,739–14,133,809, 71 basesExon 8: 14,134,770–14,134,891, 122 basesExon 9: 14,135,158–14,135,232, 75 basesExon 10: 14,135,807–14,135,908, 102 basesExon 11: 14,139,180–14,139,297, 118 basesExon 12: 14,141,593–14,143,680, 2,088 bases. 1 variant with a page in exon 12. List them1234567891011125′3′

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 3.2 kb of the gene's 18.6 kb; 1,203 of those bases code for the protein.

How a genome test reads TMEM43

4

positions in TMEM43 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 18.6 kb of TMEM43, introns included, not only the 3.2 kb of exons.

Variants with a page (1)

The TMEM43 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

VariantHGVS c.Exon or intronPosition (GRCh38)ClinVar classificationReview status
S358Lc.1073C>TExon 1214,141,665Pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

Where this comes from

  • HGNC: the gene's symbol, name, other symbols and location.
  • MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). TMEM43 gene: transmembrane protein 43. Retrieved 17 October 2026, from https://dantelabs.com/genes/tmem43

Vancouver

Dante Labs. TMEM43 gene: transmembrane protein 43 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/tmem43

One test. A lifetime of answers.

From $449Free shipping · Results in 6–8 weeks

Get my Genome Test