• Gene id: 9032

Gene Summary

• Gene Symbol: TM4SF5   Gene   UCSC   Ensembl
• Gene name: transmembrane 4 L six family member 5
• Alternate names: transmembrane 4 L6 family member 5, tetraspan transmembrane protein L6H, transmembrane 4 superfamily member 5,
• Gene location: 17p13.2 (4771885: 4783210)     Exons: 5     NC_000017.11
• Gene summary(Entrez): The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate
• OMIM: 611394

Protein Summary

• Protein general information: O14894  
  • Name: Transmembrane 4 L6 family member 5 (Tetraspan transmembrane protein L6H)
  • Length: 197  
  • Mass: 20823
  • Tissue specificity: Intestine. Overexpressed in pancreatic cancers.
• Sequence:

  MCTGKCARCVGLSLITLCLVCIVANALLLVPNGETSWTNTNHLSLQVWLMGGFIGGGLMVLCPGIAAVRAGGKGC
  CGAGCCGNRCRMLRSVFSSAFGVLGAIYCLSVSGAGLRNGPRCLMNGEWGYHFEDTAGAYLLNRTLWDRCEAPPR
  VVPWNVTLFSLLVAASCLEIVLCGIQLVNATIGVFCGDCRKKQDTPH

• Structural information:
  • Interpro: IPR008661  
  • STRING: ENSP00000270560
• Other Databases: GeneCards:  TM4SF5  Malacards:  TM4SF5

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0016021	integral component of membrane	IBA	cellular component
GO:2000045	regulation of G1/S transition of mitotic cell cycle	IDA	biological process
GO:0005765	lysosomal membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0034618	arginine binding	IMP	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:0016021	integral component of membrane	IEA	cellular component
GO:0005764	lysosome	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005887	integral component of plasma membrane	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0005765	lysosomal membrane	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R