Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK c... See more...

Aliases for KLRG1 Gene

Aliases for KLRG1 Gene

  • Killer Cell Lectin Like Receptor G1 2 3 5
  • Killer Cell Lectin-Like Receptor Subfamily G, Member 1 2 3
  • Killer Cell Lectin-Like Receptor Subfamily G Member 1 3 4
  • C-Type Lectin Domain Family 15 Member A 3 4
  • ITIM-Containing Receptor MAFA-L 3 4
  • MAFA-Like Receptor 3 4
  • CLEC15A 3 4
  • MAFA 3 4
  • Mast Cell Function-Associated Antigen (ITIM-Containing) 3
  • C-Type Lectin Domain Family 15, Member A 2
  • Mast Cell Function-Associated Antigen 4
  • MAFA-LIKE 3
  • MAFA-2F1 3
  • MAFA-L 3
  • MAFAL 4
  • 2F1 3

External Ids for KLRG1 Gene

Previous GeneCards Identifiers for KLRG1 Gene

  • GC12P008850
  • GC12P009290
  • GC12P009002
  • GC12P009033
  • GC12P009142
  • GC12P008922

Summaries for KLRG1 Gene

Entrez Gene Summary for KLRG1 Gene

  • Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells without previous activation. They can also regulate specific humoral and cell-mediated immunity. The protein encoded by this gene belongs to the killer cell lectin-like receptor (KLR) family, which is a group of transmembrane proteins preferentially expressed in NK cells. Studies in mice suggested that the expression of this gene may be regulated by MHC class I molecules. [provided by RefSeq, Jun 2016]

GeneCards Summary for KLRG1 Gene

KLRG1 (Killer Cell Lectin Like Receptor G1) is a Protein Coding gene. Among its related pathways are Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers and Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell. Gene Ontology (GO) annotations related to this gene include carbohydrate binding. An important paralog of this gene is OLR1.

UniProtKB/Swiss-Prot Summary for KLRG1 Gene

  • Plays an inhibitory role on natural killer (NK) cells and T-cell functions upon binding to their non-MHC ligands. May mediate missing self recognition by binding to a highly conserved site on classical cadherins, enabling it to monitor expression of E-cadherin/CDH1, N-cadherin/CDH2 and R-cadherin/CDH4 on target cells.

Gene Wiki entry for KLRG1 Gene

Additional gene information for KLRG1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLRG1 Gene

Genomics for KLRG1 Gene

GeneHancer (GH) Regulatory Elements for KLRG1 Gene

Promoters and enhancers for KLRG1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J008946 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 771.9 +1.8 1847 9.4 ZNF785 ZBTB40 CTCF SIX5 ZBTB6 SMARCE1 POLR2A USF2 NR2F6 ATF1 M6PR KLRG1 LINC00612 ENSG00000111788 PHC1 DDX12P ENSG00000255753 HADHAP2 MFAP5 FOXJ2
GH12J008986 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE dbSUPER 768.9 +44.4 44404 15.1 ZNF24 SP1 SMARCE1 JUND ETV6 RELA NKRF SMARCA4 CREM ZBED1 KLRG1 PHC1 M6PR CLEC2B ENSG00000257105 piR-35674-092
GH12J008909 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 18.7 -36.6 -36582 8.3 ZBTB40 CTCF HCFC1 ZNF362 ELF1 L3MBTL2 RAD21 POU5F1 SP1 CSDE1 PHC1 ENSG00000282022 M6PR KLRG1 FOXJ2 MFAP5 ENSG00000255829 LINC00612 A2ML1 A2ML1-AS2
GH12J009113 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 12.1 +165.7 165657 5.8 MLX RBPJ NR2F1 NR2F6 ATF1 CREB1 MIXL1 MYC HLF RAD21 A2M lnc-PZP-6 KLRG1 PZP RF00017-1085
GH12J008905 Enhancer 1 FANTOM5 ENCODE CraniofacialAtlas dbSUPER 18.5 -42.7 -42747 3.4 POU5F1 ZNF316 ZBTB33 POLR2A NANOG KLRG1 M6PR PHC1 ENSG00000282022 piR-36588-083
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLRG1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KLRG1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • RREB-1

Genomic Locations for KLRG1 Gene

Genomic Locations for KLRG1 Gene
chr12:8,950,044-9,010,760
(GRCh38/hg38)
Size:
60,717 bases
Orientation:
Plus strand
chr12:9,102,640-9,163,356
(GRCh37/hg19)
Size:
60,717 bases
Orientation:
Plus strand

Genomic View for KLRG1 Gene

Genes around KLRG1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLRG1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLRG1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLRG1 Gene

Proteins for KLRG1 Gene

  • Protein details for KLRG1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q96E93-KLRG1_HUMAN
    Recommended name:
    Killer cell lectin-like receptor subfamily G member 1
    Protein Accession:
    Q96E93
    Secondary Accessions:
    • B7ZAM2
    • O43198
    • O75613

    Protein attributes for KLRG1 Gene

    Size:
    195 amino acids
    Molecular mass:
    21831 Da
    Quaternary structure:
    • Forms a monomer and homodimer; disulfide-linked. Interacts (via ITIM motif) with PTPN11 and INPP5D.

    Three dimensional structures from OCA and Proteopedia for KLRG1 Gene

    Alternative splice isoforms for KLRG1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLRG1 Gene

Post-translational modifications for KLRG1 Gene

  • Glycosylation at Asn65, Asn97, Asn137, and Asn150
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for KLRG1

No data available for DME Specific Peptides for KLRG1 Gene

Domains & Families for KLRG1 Gene

Gene Families for KLRG1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KLRG1 Gene

Suggested Antigen Peptide Sequences for KLRG1 Gene

GenScript: Design optimal peptide antigens:
  • Mast cell function-associated antigen (KLRG1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q96E93

UniProtKB/Swiss-Prot:

KLRG1_HUMAN :
  • Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. Upon phosphorylation of ITIM motif KLRG1 associates with the two phosphatases PTPN11 and INPP5D (By similarity).
Domain:
  • Contains 1 copy of a cytoplasmic motif that is referred to as the immunoreceptor tyrosine-based inhibitor motif (ITIM). This motif is involved in modulation of cellular responses. Upon phosphorylation of ITIM motif KLRG1 associates with the two phosphatases PTPN11 and INPP5D (By similarity).
genes like me logo Genes that share domains with KLRG1: view

Function for KLRG1 Gene

Molecular function for KLRG1 Gene

UniProtKB/Swiss-Prot Function:
Plays an inhibitory role on natural killer (NK) cells and T-cell functions upon binding to their non-MHC ligands. May mediate missing self recognition by binding to a highly conserved site on classical cadherins, enabling it to monitor expression of E-cadherin/CDH1, N-cadherin/CDH2 and R-cadherin/CDH4 on target cells.
UniProtKB/Swiss-Prot Induction:
By pathogens and viruses infections.
GENATLAS Biochemistry:
natural killer cell lectin-like receptor,subfamily G,member 1,in the NK (natural killer) complex (NKG2@),expressed in peripheral blood by NK cells,also expressed in most cells and basophils

Phenotypes From GWAS Catalog for KLRG1 Gene

Gene Ontology (GO) - Molecular Function for KLRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16189514
GO:0030246 carbohydrate binding IEA --
GO:0038023 signaling receptor activity TAS 9765598
genes like me logo Genes that share ontologies with KLRG1: view
genes like me logo Genes that share phenotypes with KLRG1: view

Animal Models for KLRG1 Gene

MGI Knock Outs for KLRG1:

Animal Model Products

CRISPR Products

miRNA for KLRG1 Gene

miRTarBase miRNAs that target KLRG1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLRG1 Gene

Localization for KLRG1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLRG1 Gene

Cell membrane; Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLRG1 gene
Compartment Confidence
plasma membrane 4
extracellular 2
cytosol 1
peroxisome 0
endoplasmic reticulum 0

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for KLRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IDA --
genes like me logo Genes that share ontologies with KLRG1: view

Pathways & Interactions for KLRG1 Gene

genes like me logo Genes that share pathways with KLRG1: view

Gene Ontology (GO) - Biological Process for KLRG1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006954 inflammatory response TAS 9842918
GO:0006968 cellular defense response TAS 9842918
GO:0007166 cell surface receptor signaling pathway TAS 9842918
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with KLRG1: view

No data available for SIGNOR curated interactions for KLRG1 Gene

Drugs & Compounds for KLRG1 Gene

No Compound Related Data Available

Transcripts for KLRG1 Gene

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLRG1 Gene

No ASD Table

Relevant External Links for KLRG1 Gene

GeneLoc Exon Structure for
KLRG1
ECgene alternative splicing isoforms for
KLRG1

Expression for KLRG1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLRG1 Gene

mRNA differential expression in normal tissues according to GTEx for KLRG1 Gene

This gene is overexpressed in Whole Blood (x9.3).

Protein differential expression in normal tissues from HIPED for KLRG1 Gene

This gene is overexpressed in Bone marrow mesenchymal stem cell (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLRG1 Gene



Protein tissue co-expression partners for KLRG1 Gene

NURSA nuclear receptor signaling pathways regulating expression of KLRG1 Gene:

KLRG1

SOURCE GeneReport for Unigene cluster for KLRG1 Gene:

Hs.558446

mRNA Expression by UniProt/SwissProt for KLRG1 Gene:

Q96E93-KLRG1_HUMAN
Tissue specificity: Expressed specifically on natural killer (NK) cells and T-cells, mainly CD8 T-cells.

Evidence on tissue expression from TISSUES for KLRG1 Gene

  • Spleen(4.4)
  • Bone marrow(4.2)
  • Blood(2.9)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with KLRG1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLRG1 Gene

Orthologs for KLRG1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLRG1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLRG1 33 32
  • 99.12 (n)
OneToOne
dog
(Canis familiaris)
Mammalia KLRG1 33 32
  • 78.01 (n)
OneToOne
cow
(Bos Taurus)
Mammalia KLRG1 33 32
  • 77.66 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Klrg1 17 33 32
  • 71.68 (n)
rat
(Rattus norvegicus)
Mammalia Klrg1 32
  • 68.64 (n)
Species where no ortholog for KLRG1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KLRG1 Gene

ENSEMBL:
Gene Tree for KLRG1 (if available)
TreeFam:
Gene Tree for KLRG1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLRG1: view image

Paralogs for KLRG1 Gene

(13) SIMAP similar genes for KLRG1 Gene using alignment to 3 proteins:

  • KLRG1_HUMAN
  • F5H207_HUMAN
  • F5H8E3_HUMAN
genes like me logo Genes that share paralogs with KLRG1: view

Variants for KLRG1 Gene

Sequence variations from dbSNP and Humsavar for KLRG1 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1799759 risk-factor, benign, Alzheimer disease, susceptibility to, ALPHA-2-MACROGLOBULIN POLYMORPHISM, not specified 9,093,581(+) TATGGT/T genic_downstream_transcript_variant, intron_variant
rs1800433 benign, ALPHA-2-MACROGLOBULIN POLYMORPHISM 9,079,755(+) C/T genic_downstream_transcript_variant, intron_variant
rs1800434 benign, ALPHA-2-MACROGLOBULIN POLYMORPHISM 9,094,987(+) C/T genic_downstream_transcript_variant, intron_variant
rs669 benign, risk-factor, ALPHA-2-MACROGLOBULIN POLYMORPHISM, Alzheimer disease, susceptibility to 9,079,672(+) T/C genic_downstream_transcript_variant, intron_variant
rs766749252 likely-benign, Long QT syndrome 9,157,811(+) C/T genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KLRG1 Gene

Variant ID Type Subtype PubMed ID
esv3628490 CNV loss 21293372
esv3628491 CNV loss 21293372
nsv1051530 CNV gain 25217958
nsv521482 CNV loss 19592680
nsv832327 CNV loss 17160897

Variation tolerance for KLRG1 Gene

Residual Variation Intolerance Score: 63.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.87; 18.21% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLRG1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLRG1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLRG1 Gene

Disorders for KLRG1 Gene

Additional Disease Information for KLRG1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KLRG1 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLRG1 Gene

Publications for KLRG1 Gene

  1. MAFA-L, an ITIM-containing receptor encoded by the human NK cell gene complex and expressed by basophils and NK cells. (PMID: 9842918) Butcher S … Cook GP (European journal of immunology 1998) 2 3 4 23 56
  2. Structure of natural killer cell receptor KLRG1 bound to E-cadherin reveals basis for MHC-independent missing self recognition. (PMID: 19604491) Li Y … Mariuzza RA (Immunity 2009) 3 4 23 56
  3. Tumor-associated E-cadherin mutations affect binding to the killer cell lectin-like receptor G1 in humans. (PMID: 17617594) Schwartzkopff S … Pircher H (Journal of immunology (Baltimore, Md. : 1950) 2007) 3 4 23 56
  4. Killer cell lectin-like receptor G1 binds three members of the classical cadherin family to inhibit NK cell cytotoxicity. (PMID: 16461340) Ito M … Matsumoto N (The Journal of experimental medicine 2006) 2 3 23 56
  5. Expression of killer cell lectin-like receptor G1 on antigen-specific human CD8+ T lymphocytes during active, latent, and resolved infection and its relation with CD57. (PMID: 15879103) Ibegbu CC … Kourtis AP (Journal of immunology (Baltimore, Md. : 1950) 2005) 3 4 23 56

Products for KLRG1 Gene

Sources for KLRG1 Gene