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GNLY granulysin [ Homo sapiens (human) ]

Gene ID: 10578, updated on 26-Sep-2021

Summary

Official Symbol
GNLYprovided by HGNC
Official Full Name
granulysinprovided by HGNC
Primary source
HGNC:HGNC:4414
See related
Ensembl:ENSG00000115523 MIM:188855
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
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Genomic context

See GNLY in Genome Data Viewer
Location:
2p11.2
Exon count:
6
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 2 NC_000002.12 (85694294..85698854)
105.20201022 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 GPR160 pseudogene 1 Neighboring gene RNA, U1 small nuclear 38, pseudogene Neighboring gene atonal bHLH transcription factor 8 Neighboring gene VISTA enhancer hs1652

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

Homology

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
PubMed 
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)

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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_001302758.2NP_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/Swiss-Prot
    P22749
    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
    P22749
    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: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p13 Primary Assembly

    Range
    85694294..85698854
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005264087.2XP_005264144.1  granulysin isoform X3

  2. XM_005264085.2XP_005264142.1  granulysin isoform X2

  3. XM_005264084.2XP_005264141.1  granulysin isoform X1

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