• Gene id: 10578

Gene Summary

• Gene Symbol: GNLY   Gene   UCSC   Ensembl
• Aliases: D2S69E, LAG-2, LAG2, NKG5, TLA519
• Gene name: granulysin
• Alternate names: granulysin, T-cell activation protein 519, T-lymphocyte activation gene 519, lymphocyte-activation gene 2, lymphokine LAG-2,
• Gene location: 2p11.2 (85694293: 85698853)     Exons: 6     NC_000002.12
• Gene summary(Entrez): The product of this gene is a member of the saposin-like protein (SAPLIP) family and is located in the cytotoxic granules of T cells, which are released upon antigen stimulation. This protein is present in cytotoxic granules of cytotoxic T lymphocytes and
• OMIM: 188855

Protein Summary

• Protein general information: P22749  
  • Name: Granulysin (Lymphokine LAG 2) (Protein NKG5) (T cell activation protein 519)
  • Length: 145  
  • Mass: 16374
  • Tissue specificity: Expressed in natural killer and T-cells.
• Sequence:

  MATWALLLLAAMLLGNPGLVFSRLSPEYYDLARAHLRDEEKSCPCLAQEGPQGDLLTKTQELGRDYRTCLTIVQK
  LKKMVDKPTQRSVSNAATRVCRTGRSRWRDVCRNFMRRYQSRVTQGLVAGETAQQICEDLRLCIPSTGPL

• Structural information:
  • Protein Domains: (62..14-)
    (/note="Saposin-B-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00415"-)
  • Interpro: IPR038847  IPR008138  IPR011001  IPR008139  
  • Prosite: PS50015
  • PDB: 1L9L
  • PDBsum: 1L9L
  • STRING: ENSP00000263863
• Other Databases: GeneCards:  GNLY  Malacards:  GNLY

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031640	killing of cells of other organism	IBA	biological process
GO:0044194	cytolytic granule	IBA	colocalizes with
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IBA	biological process
GO:0042742	defense response to bacterium	IBA	biological process
GO:0042742	defense response to bacterium	IEA	biological process
GO:0031640	killing of cells of other organism	IEA	biological process
GO:0050832	defense response to fungus	IEA	biological process
GO:0005576	extracellular region	IEA	cellular component
GO:0042742	defense response to bacterium	IEA	biological process
GO:0005615	extracellular space	TAS	cellular component
GO:0019730	antimicrobial humoral response	TAS	biological process
GO:0097013	phagocytic vesicle lumen	TAS	cellular component
GO:0097013	phagocytic vesicle lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0006968	cellular defense response	IDA	biological process
GO:0042742	defense response to bacterium	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0044194	cytolytic granule	IDA	colocalizes with
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0031640	killing of cells of other organism	IDA	biological process
GO:0061844	antimicrobial humoral immune response mediated by antimicrobial peptide	IDA	biological process

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
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
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R