KLRC1 (killer cell lectin like receptor C1)

2003-06-01  

Identity

HGNC
KLRC1
LOCATION
12p13.2
LOCUSID
3821
ALIAS
CD159A,NKG2,NKG2A

Other Information

Locus ID:

NCBI: 3821
MIM: 161555
HGNC: 6374
Ensembl: ENSG00000134545

Variants:

dbSNP: 3821
ClinVar: 3821
TCGA: ENSG00000134545
COSMIC: KLRC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134545ENST00000347831P26715
ENSG00000134545ENST00000359151P26715
ENSG00000134545ENST00000408006P26715
ENSG00000134545ENST00000536188F5GYZ0
ENSG00000134545ENST00000543893H0YGB7
ENSG00000134545ENST00000544822P26715

Expression (GTEx)

0
1
2
3
4
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
Antigen processing and presentationKEGGko04612
Natural killer cell mediated cytotoxicityKEGGko04650
Graft-versus-host diseaseKEGGko05332
Antigen processing and presentationKEGGhsa04612
Natural killer cell mediated cytotoxicityKEGGhsa04650
Graft-versus-host diseaseKEGGhsa05332
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cellREACTOMER-HSA-198933

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10004adalimumabChemicalClinicalAnnotation, VariantAnnotationambiguousPD26453102
PA165107055certolizumab pegolChemicalClinicalAnnotation, VariantAnnotationambiguousPD26453102
PA443434Arthritis, RheumatoidDiseaseClinicalAnnotation, VariantAnnotationambiguousPD26453102
PA449515etanerceptChemicalClinicalAnnotation, VariantAnnotationambiguousPD26453102
PA450428methotrexateChemicalClinicalAnnotation, VariantAnnotationambiguousPD26453102
PA452347glucocorticoidsChemicalClinicalAnnotation, VariantAnnotationambiguousPD26453102
PA452639infliximabChemicalClinicalAnnotation, VariantAnnotationambiguousPD26453102

References

Pubmed IDYearTitleCitations
368977792023KIR(+)CD8(+) and NKG2A(+)CD8(+) T cells are distinct innate-like populations in humans.3
369317232023NKG2A and circulating extracellular vesicles are key regulators of natural killer cell activity in prostate cancer after prostatectomy.0
373526882023Association between NKG2/KLR gene variants and epilepsy in Autism Spectrum Disorder.1
373860902023The NK cell checkpoint NKG2A maintains expansion capacity of human NK cells.7
376531122023Association of inhibitory NKG2A and activating NKG2D natural killer cell receptor genes with resistance to SARS-CoV-2 infection in a western Indian population.0
376751092023KLRC1 knockout overcomes HLA-E-mediated inhibition and improves NK cell antitumor activity against solid tumors.1
379012272023Significance of HLA-E and its two NKG2 receptors in development of complications after allogeneic transplantation of hematopoietic stem cells.0
380645682023Antigen-specific memory NK cell responses against HIV and influenza use the NKG2/HLA-E axis.4
368977792023KIR(+)CD8(+) and NKG2A(+)CD8(+) T cells are distinct innate-like populations in humans.3
369317232023NKG2A and circulating extracellular vesicles are key regulators of natural killer cell activity in prostate cancer after prostatectomy.0
373526882023Association between NKG2/KLR gene variants and epilepsy in Autism Spectrum Disorder.1
373860902023The NK cell checkpoint NKG2A maintains expansion capacity of human NK cells.7
376531122023Association of inhibitory NKG2A and activating NKG2D natural killer cell receptor genes with resistance to SARS-CoV-2 infection in a western Indian population.0
376751092023KLRC1 knockout overcomes HLA-E-mediated inhibition and improves NK cell antitumor activity against solid tumors.1
379012272023Significance of HLA-E and its two NKG2 receptors in development of complications after allogeneic transplantation of hematopoietic stem cells.0

Citation

Dessen P

KLRC1 (killer cell lectin like receptor C1)

Atlas Genet Cytogenet Oncol Haematol. 2003-06-01

Online version: http://atlasgeneticsoncology.org/gene/41090/klrc1-(killer-cell-lectin-like-receptor-c1)