• Gene id: 51643

Gene Summary

• Gene Symbol: TMBIM4   Gene   UCSC   Ensembl
• Aliases: CGI-119, GAAP, LFG4, S1R, ZPRO
• Gene name: transmembrane BAX inhibitor motif containing 4
• Alternate names: protein lifeguard 4, Golgi anti-apoptotic protein, Z-protein, transmembrane BAX inhibitor motif-containing protein 4,
• Gene location: 12q14.3 (66170071: 66135845)     Exons: 8     NC_000012.12
• OMIM: 611446

Protein Summary

• Protein general information: Q9HC24  
  • Name: Protein lifeguard 4 (Golgi anti apoptotic protein) (Protein S1R) (Transmembrane BAX inhibitor motif containing protein 4) (Z protein)
  • Length: 238  
  • Mass: 26971
• Sequence:

  MADPDPRYPRSSIEDDFNYGSSVASATVHIRMAFLRKVYSILSLQVLLTTVTSTVFLYFESVRTFVHESPALILL
  FALGSLGLIFALILNRHKYPLNLYLLFGFTLLEALTVAVVVTFYDVYIILQAFILTTTVFFGLTVYTLQSKKDFS
  KFGAGLFALLWILCLSGFLKFFFYSEIMELVLAAAGALLFCGFIIYDTHSLMHKLSPEEYVLAAISLYLDIINLF
  LHLLRFLEAVNKK

• Structural information:
  • Interpro: IPR006214  
• Other Databases: GeneCards:  TMBIM4  Malacards:  TMBIM4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005795	Golgi stack	IDA	cellular component
GO:0050848	regulation of calcium-mediated signaling	IDA	biological process
GO:0043066	negative regulation of apoptotic process	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0006915	apoptotic process	IEA	biological process
GO:0016021	integral component of membrane	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component

Diseases

Associated diseases	References
Hypospermatogenesis	MIK: 28361989
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray