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GNLY granulysin [ Homo sapiens (human) ]

Gene ID: 10578, updated on 12-Sep-2024

Summary

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Official Symbol
GNLYprovided by HGNC
Official Full Name
granulysinprovided by HGNC
Primary source
HGNC:HGNC:4414
See related
Ensembl:ENSG00000115523 MIM:188855; AllianceGenome:HGNC:4414
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
LAG2; NKG5; LAG-2; D2S69E; TLA519
Summary
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 natural killer cells, and it has antimicrobial activity against M. tuberculosis and other organisms. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Expression
Biased expression in bone marrow (RPKM 67.6), endometrium (RPKM 42.4) and 5 other tissues See more
Orthologs
all
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Genomic context

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Location:
2p11.2
Exon count:
7
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85694358..85698852)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85696414..85700909)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (85921481..85925975)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105374842 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr2:85914228-85914730 Neighboring gene GPR160 pseudogene 1 Neighboring gene NANOG hESC enhancer GRCh37_chr2:85932083-85932584 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85937820-85938320 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr2:85938321-85938821 Neighboring gene uncharacterized LOC124907851 Neighboring gene RNA, U1 small nuclear 38, pseudogene

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. GNLY gene polymorphism: A potential role in understanding psoriasis pathogenesis. Khalid HN, et al. J Cosmet Dermatol, 2022 Oct. PMID 35066979
  2. Gran1: A Granulysin-Derived Peptide with Potent Activity against Intracellular Mycobacterium tuberculosis. Noschka R, et al. Int J Mol Sci, 2021 Aug 4. PMID 34445098, Free PMC Article
  3. Enhanced tuberculosis clearance through the combination treatment with recombinant adenovirus-mediated granulysin delivery. Hao L, et al. Theranostics, 2020. PMID 32929333, Free PMC Article
  4. Decidual NK Cells Transfer Granulysin to Selectively Kill Bacteria in Trophoblasts. Crespo ÂC, et al. Cell, 2020 Sep 3. PMID 32822574, Free PMC Article
  5. Association between seminal granulysin and malondialdehyde in infertile men with varicocele and the potential effect of varicocelectomy. Kamal HM, et al. Andrologia, 2020 Jul. PMID 32271478

See all (86) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Granulysin-mediated reduction of PDZRN3 induces Cx43 gap junctions activity exacerbating skin damage in trichloroethylene hypersensitivity syndrome.
    Title: Granulysin-mediated reduction of PDZRN3 induces Cx43 gap junctions activity exacerbating skin damage in trichloroethylene hypersensitivity syndrome.
  2. GNLY gene polymorphism: A potential role in understanding psoriasis pathogenesis.
    Title: GNLY gene polymorphism: A potential role in understanding psoriasis pathogenesis.
  3. Identification of Diagnostic Signatures and Immune Cell Infiltration Characteristics in Rheumatoid Arthritis by Integrating Bioinformatic Analysis and Machine-Learning Strategies.
    Title: Identification of Diagnostic Signatures and Immune Cell Infiltration Characteristics in Rheumatoid Arthritis by Integrating Bioinformatic Analysis and Machine-Learning Strategies.
  4. A Profound Membrane Reorganization Defines Susceptibility of Plasmodium falciparum Infected Red Blood Cells to Lysis by Granulysin and Perforin.
    Title: A Profound Membrane Reorganization Defines Susceptibility of Plasmodium falciparum Infected Red Blood Cells to Lysis by Granulysin and Perforin.
  5. Gran1: A Granulysin-Derived Peptide with Potent Activity against Intracellular Mycobacterium tuberculosis.
    Title: Gran1: A Granulysin-Derived Peptide with Potent Activity against Intracellular Mycobacterium tuberculosis.
  6. Enhanced tuberculosis clearance through the combination treatment with recombinant adenovirus-mediated granulysin delivery.
    Title: Enhanced tuberculosis clearance through the combination treatment with recombinant adenovirus-mediated granulysin delivery.
  7. Decidual NK Cells Transfer Granulysin to Selectively Kill Bacteria in Trophoblasts.
    Title: Decidual NK Cells Transfer Granulysin to Selectively Kill Bacteria in Trophoblasts.
  8. Association between seminal granulysin and malondialdehyde in infertile men with varicocele and the potential effect of varicocelectomy.
    Title: Association between seminal granulysin and malondialdehyde in infertile men with varicocele and the potential effect of varicocelectomy.
  9. The Role of IL-13, IL-15 and Granulysin in the Pathogenesis of Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis.
    Title: The Role of IL-13, IL-15 and Granulysin in the Pathogenesis of Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis.
  10. Contributions of IFN-gamma and granulysin to the clearance of Plasmodium yoelii blood stage.
    Title: Contributions of IFN-γ and granulysin to the clearance of Plasmodium yoelii blood stage.
Submit: New GeneRIF Correction See all GeneRIFs (68)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in antimicrobial humoral immune response mediated by antimicrobial peptide IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in cellular defense response IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in defense response to bacterium IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in defense response to bacterium IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in defense response to fungus IEA
Inferred from Electronic Annotation
more info
  
involved_in killing of cells of another organism IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in killing of cells of another organism IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
colocalizes_with cytolytic granule IBA
Inferred from Biological aspect of Ancestor
more info
  
colocalizes_with cytolytic granule IDA
Inferred from Direct Assay
more info
 PubMed 
located_in extracellular region TAS
Traceable Author Statement
more info
  
located_in extracellular space TAS
Traceable Author Statement
more info
 PubMed 
located_in phagocytic vesicle lumen TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
granulysin
Names
T-cell activation protein 519
T-lymphocyte activation gene 519
lymphocyte-activation gene 2
lymphokine LAG-2

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001302758.2 → NP_001289687.1  granulysin isoform 1 precursor

    See identical proteins and their annotated locations for NP_001289687.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AC012454, AK304728, BQ015680
    Consensus CDS
    CCDS77430.1
    UniProtKB/TrEMBL
    B4E3H9
    Related
    ENSP00000436423.1, ENST00000524600.5
    Conserved Domains (2) summary
    smart00741
    Location:95 → 165
    SapB; Saposin (B) Domains
    pfam03489
    Location:134 → 165
    SapB_2; Saposin-like type B, region 2

  2. NM_006433.5 → NP_006424.2  granulysin isoform 2 precursor

    See identical proteins and their annotated locations for NP_006424.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an alternate in-frame exon in the 5' end compared to variant 1. The resulting isoform (2, also known as NKG5) is shorter compared to isoform 1.
    Source sequence(s)
    AC012454, BQ015680, X54101
    Consensus CDS
    CCDS1984.1
    UniProtKB/Swiss-Prot
    P09325, P22749, Q6GU08
    Related
    ENSP00000263863.5, ENST00000263863.9
    Conserved Domains (1) summary
    smart00741
    Location:68 → 138
    SapB; Saposin (B) Domains

  3. NM_012483.4 → NP_036615.2  granulysin isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) uses an alternate splice junction in the 5' end and initiates translation at an alternate start codon compared to variant 1. The resulting isoform (3, also known as 519) is shorter at the N-terminus compared to isoform 1.
    Source sequence(s)
    AC012454, BQ015680, DA932688, X54101
    Consensus CDS
    CCDS46354.1
    UniProtKB/Swiss-Prot
    P22749
    Related
    ENSP00000387116.3, ENST00000409696.7
    Conserved Domains (2) summary
    smart00741
    Location:53 → 123
    SapB; Saposin (B) Domains
    pfam03489
    Location:92 → 123
    SapB_2; Saposin-like type B, region 2

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    85694358..85698852
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264084.3 → XP_005264141.1  granulysin isoform X1

  2. XM_005264085.3 → XP_005264142.1  granulysin isoform X2

  3. XM_047442947.1 → XP_047298903.1  granulysin isoform X3

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    85696414..85700909
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054340197.1 → XP_054196172.1  granulysin isoform X1

  2. XM_054340198.1 → XP_054196173.1  granulysin isoform X2

  3. XM_054340199.1 → XP_054196174.1  granulysin isoform X3

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P22749.3 GenPept UniProtKB/Swiss-Prot:P22749

Gene LinkOut

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