• Gene id: 79639

Gene Summary

• Gene Symbol: TMEM53   Gene   UCSC   Ensembl
• Aliases: NET4
• Gene name: transmembrane protein 53
• Alternate names: transmembrane protein 53, novel DUF829 domain-containing protein,
• Gene location: 1p34.1 (44674607: 44653246)     Exons: 4     NC_000001.11
• OMIM: 614511

Protein Summary

• Protein general information: Q6P2H8  
  • Name: Transmembrane protein 53
  • Length: 277  
  • Mass: 31630
• Sequence:

  MASAELDYTIEIPDQPCWSQKNSPSPGGKEAETRQPVVILLGWGGCKDKNLAKYSAIYHKRGCIVIRYTAPWHMV
  FFSESLGIPSLRVLAQKLLELLFDYEIEKEPLLFHVFSNGGVMLYRYVLELLQTRRFCRLRVVGTIFDSAPGDSN
  LVGALRALAAILERRAAMLRLLLLVAFALVVVLFHVLLAPITALFHTHFYDRLQDAGSRWPELYLYSRADEVVLA
  RDIERMVEARLARRVLARSVDFVSSAHVSHLRDYPTYYTSLCVDFMRNCVRC

• Structural information:
  • Interpro: IPR029058  IPR008547  
  • STRING: ENSP00000361311
• Other Databases: GeneCards:  TMEM53  Malacards:  TMEM53

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005634	nucleus	HDA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq