• Gene id: 79188

Gene Summary

• Gene Symbol: TMEM43   Gene   UCSC   Ensembl
• Aliases: ARVC5, ARVD5, EDMD7, LUMA
• Gene name: transmembrane protein 43
• Alternate names: transmembrane protein 43,
• Gene location: 3p25.1 (14125005: 14143679)     Exons: 13     NC_000003.12
• Gene summary(Entrez): 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 ventricula
• OMIM: 612048

Protein Summary

• Protein general information: Q9BTV4  
  • Name: Transmembrane protein 43 (Protein LUMA)
  • Length: 400  
  • Mass: 44876
  • Tissue specificity: Highest expression in placenta. Also found at lower levels in heart, ovary, spleen, small intestine, thymus, prostate and testis. {ECO
• Sequence:

  MAANYSSTSTRREHVKVKTSSQPGFLERLSETSGGMFVGLMAFLLSFYLIFTNEGRALKTATSLAEGLSLVVSPD
  SIHSVAPENEGRLVHIIGALRTSKLLSDPNYGVHLPAVKLRRHVEMYQWVETEESREYTEDGQVKKETRYSYNTE
  WRSEIINSKNFDREIGHKNPSAMAVESFMATAPFVQIGRFFLSSGLIDKVDNFKSLSLSKLEDPHVDIIRRGDFF
  YHSENPKYPEVGDLRVSFSYAGLSGDDPDLGPAHVVTVIARQRGDQLVPFSTKSGDTLLLLHHGDFSAEEVFHRE
  LRSNSMKTWGLRAAGWMAMFMGLNLMTRILYTLVDWFPVFRDLVNIGLKAFAFCVATSLTLLTVAAGWLFYRPLW
  ALLIAGLALVPILVARTRVPAKKLE

• Structural information:
  • Interpro: IPR012430  
  • STRING: ENSP00000303992
• Other Databases: GeneCards:  TMEM43  Malacards:  TMEM43

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005639	integral component of nuclear inner membrane	IBA	cellular component
GO:0016020	membrane	IBA	cellular component
GO:0071763	nuclear membrane organization	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0071763	nuclear membrane organization	IDA	biological process
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005637	nuclear inner membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component

Diseases

Associated diseases	References
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Arrhythmogenic right ventricular cardiomyopathy	KEGG:H00293
Arrhythmogenic right ventricular cardiomyopathy	PMID:10631146
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881