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    GNLY granulysin [ Homo sapiens (human) ]

    Gene ID: 10578, updated on 2-Nov-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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    See GNLY in Genome Data Viewer
    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. The expression of granulysin in systemic anaplastic large cell lymphoma in childhood. Kitamura N, et al. Leuk Res, 2009 Jul. PMID 19243819
    2. Cytotoxic CD4+ T cells use granulysin to kill Cryptococcus neoformans, and activation of this pathway is defective in HIV patients. Zheng CF, et al. Blood, 2007 Mar 1. PMID 17038537
    3. Expression, processing and transcriptional regulation of granulysin in short-term activated human lymphocytes. Latinovic-Golic S, et al. BMC Immunol, 2007 Jun 27. PMID 17596262, Free PMC Article
    4. Serum granulysin is elevated in patients with hemophagocytic lymphohistiocytosis. Nagasawa M, et al. Int J Hematol, 2007 Dec. PMID 18192122
    5. Increased granulysin expression in peripheral blood cells of patients with primary biliary cirrhosis and its clinical implications. Qian C, et al. J Clin Immunol, 2008 Sep. PMID 18584314

    See all (87) 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)

    Genotypes

    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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    NEW Try the new Transcript table

    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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