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    GNLY granulysin [ Homo sapiens (human) ]

    Gene ID: 10578, updated on 16-Apr-2024

    Summary

    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
    NEW
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    Try the new Transcript table

    Genomic context

    See GNLY in Genome Data Viewer
    Location:
    2p11.2
    Exon count:
    7
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (85694358..85698852)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (85696414..85700909)
    105.20220307 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

    Expression

    • Project title: 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

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    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

    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)

    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_001302758.2NP_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:95165
      SapB; Saposin (B) Domains
      pfam03489
      Location:134165
      SapB_2; Saposin-like type B, region 2
    2. NM_006433.5NP_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:68138
      SapB; Saposin (B) Domains
    3. NM_012483.4NP_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:53123
      SapB; Saposin (B) Domains
      pfam03489
      Location:92123
      SapB_2; Saposin-like type B, region 2

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    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_005264084.3XP_005264141.1  granulysin isoform X1

    2. XM_005264085.3XP_005264142.1  granulysin isoform X2

    3. XM_047442947.1XP_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_054340197.1XP_054196172.1  granulysin isoform X1

    2. XM_054340198.1XP_054196173.1  granulysin isoform X2

    3. XM_054340199.1XP_054196174.1  granulysin isoform X3