• Gene id: 91227

Gene Summary

• Gene Symbol: GGTLC2   Gene   UCSC   Ensembl
• Aliases: GGTL4
• Gene name: gamma-glutamyltransferase light chain 2
• Alternate names: glutathione hydrolase light chain 2, gamma-glutamyltransferase-like 4, gamma-glutamyltransferase-like protein 4,
• Gene location: 22q11.22 (108091643: 108084204)     Exons: 5     NC_000023.11
• Gene summary(Entrez): This gene encodes a protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative
• OMIM: 612339

Protein Summary

• Protein general information: Q14390  
  • Name: Glutathione hydrolase light chain 2 (Gamma glutamyltransferase light chain 2) (Gamma glutamyltransferase like protein 4)
  • Length: 218  
  • Mass: 23661
  • Tissue specificity: Placenta and sigmoid tissues.
• Sequence:

  MTSEFFAAQLRAQISDDTTHPISYYKPEFYTPVDGGTAHLSVVAEDGSAVSATSTINLYFGSKVRSPVSEILFND
  EMDDFSSPNITNEFGVPPSPANFIQPGKQPLSSMCPTIMVGQDGQPPSHADHTPMPQAIIYNLWFGYDVKRAVEE
  PRLHNQLLPNVTTVERNIDQAVTAALETRHHHTQIASTFIAVVQAIVRTAGGWAAASDSRKGGEPAGY

• Structural information:
  • Interpro: IPR000101  IPR029055  
  • Prosite: PS00462
  • STRING: ENSP00000419751
• Other Databases: GeneCards:  GGTLC2  Malacards:  GGTLC2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006751	glutathione catabolic process	IEA	biological process
GO:0036374	glutathione hydrolase activity	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006508	proteolysis	IEA	biological process
GO:1901750	leukotriene D4 biosynthetic process	ISS	biological process
GO:0070062	extracellular exosome	HDA	cellular component
GO:0003674	molecular_function	ND	molecular function
GO:0008150	biological_process	ND	biological process

Diseases

Associated diseases	References
Non obstructive azoospermia	MIK: 24012201
Sertoli cell only syndrome	MIK: 23869807
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)
24012201	Non obstructive azoospermia			31 (4 controls, 27 cases)	Male infertility	GSE45885 analyzed by GEO2R (cutoff 1.5 fold)
23869807	Non obstructive azoospermia, Sertoli cell only syndrome			20 (4 controls, 16 cases)	Male infertility	GSE45887 analyzed by GEO2R (cutoff 1.5 fold)