Seroatlas · Human Serome Atlas

TMEM43

Transmembrane protein 43

Also known as: ARVD5, DKFZp586G1919, LUMA, MGC3222, TMM43_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
Q9BTV4
Gene
TMEM43
Ensembl
ENSG00000170876
Chromosome
3
Canonical length
400 aa
Protein class
Disease related genes, Human disease related genes, Predicted membrane proteins

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

400 residues, UniProt reviewed canonical sequence.

>Q9BTV4|TMEM43
     1  MAANYSSTST RREHVKVKTS SQPGFLERLS ETSGGMFVGL MAFLLSFYLI FTNEGRALKT
    61  ATSLAEGLSL VVSPDSIHSV APENEGRLVH IIGALRTSKL LSDPNYGVHL PAVKLRRHVE
   121  MYQWVETEES REYTEDGQVK KETRYSYNTE WRSEIINSKN FDREIGHKNP SAMAVESFMA
   181  TAPFVQIGRF FLSSGLIDKV DNFKSLSLSK LEDPHVDIIR RGDFFYHSEN PKYPEVGDLR
   241  VSFSYAGLSG DDPDLGPAHV VTVIARQRGD QLVPFSTKSG DTLLLLHHGD FSAEEVFHRE
   301  LRSNSMKTWG LRAAGWMAMF MGLNLMTRIL YTLVDWFPVF RDLVNIGLKA FAFCVATSLT
   361  LLTVAAGWLF YRPLWALLIA GLALVPILVA RTRVPAKKLE

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against TMEM43 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
4
Mean surface accessibility (rSASA)
0.31
Highest tissue expression
124 nTPM

Expression across tissuesHPA

Tissue

  • blood vessel: 124 nTPM
  • skin: 103 nTPM
  • endometrium: 86 nTPM
  • smooth muscle: 77 nTPM
  • ovary: 77 nTPM
  • adipose tissue: 74 nTPM

Single-cell type

  • alveolar cells type 1: 55 nCPM
  • adrenal cortex cells: 47 nCPM
  • esophageal basal cells: 44 nCPM
  • esophageal suprabasal cells: 40 nCPM
  • basal keratinocytes: 38 nCPM
  • suprabasal keratinocytes: 37 nCPM

Immune cell

  • neutrophil: 158 nTPM
  • eosinophil: 101 nTPM
  • basophil: 81 nTPM
  • NK-cell: 80 nTPM
  • total PBMC: 70 nTPM
  • gdT-cell: 69 nTPM

Brain region

  • medulla oblongata: 35 nTPM
  • hypothalamus: 30 nTPM
  • midbrain: 30 nTPM
  • pons: 29 nTPM
  • white matter: 28 nTPM
  • thalamus: 27 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about TMEM43.

Disease | AllUniProt

Conditions TMEM43 is implicated in, by any mechanism.

  • Arrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5) MIM:604400
  • Emery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7) MIM:614302
  • Auditory neuropathy, autosomal dominant 3 (AUNA3) MIM:619832

Disease | GeneticClinVar

3 pathogenic / likely-pathogenic of 1,170 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
1.28
gnomAD pLI
0
gnomAD missense Z
-0.42
DepMap mean gene effect
0.04
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

  • Transmembrane protein 43 family
  • Transmembrane protein 43

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of TMEM43 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads TMEM43 as an antibody target. Whether an autoantibody or antibody against TMEM43 could matter depends on whether native TMEM43 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

TMEM43 is annotated at the cell surface, where native TMEM43 is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label TMEM43 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/TMEM43. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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