GNLY granulysin [Homo sapiens (human)] - Gene

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: all
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Genomic context

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_000002.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
GNLY gene polymorphism: A potential role in understanding psoriasis pathogenesis.
Title: GNLY gene polymorphism: A potential role in understanding psoriasis pathogenesis.
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.
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.
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.
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.
Decidual NK Cells Transfer Granulysin to Selectively Kill Bacteria in Trophoblasts.
Title: Decidual NK Cells Transfer Granulysin to Selectively Kill Bacteria in Trophoblasts.
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.
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.
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)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D10S275 (e-PCR)
- UniSTS:147992

STS-M85276 (e-PCR)
- UniSTS:33137

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)

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
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
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