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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. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (... See more...
Aliases for KLRC2 Gene
Aliases for KLRC2 Gene
External Ids for KLRC2 Gene
- HGNC: 6375
- Entrez Gene: 3822
- Ensembl: ENSG00000205809
- OMIM: 602891
- UniProtKB: P26717
Previous GeneCards Identifiers for KLRC2 Gene
- GC12P010266
- GC12U900034
- GC12M010484
- GC12M010474
- GC12M010583
- GC12M010690
- GC12M010719
- GC12M012416
- GC12M012636
- GC12M012791
- GC12M013376
- GC12M010782
- GC12M011019
- GC12M011306
- GC12M011540
- GC12M011732
- GC12M011920
- GC12M012105
- GC12M012282
Summaries for KLRC2 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. NK cells preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation of NK cell function. The group, designated KLRC (NKG2) are expressed primarily in natural killer (NK) cells and encodes a family of transmembrane proteins characterized by a type II membrane orientation (extracellular C terminus) and the presence of a C-type lectin domain. The KLRC (NKG2) gene family is located within the NK complex, a region that contains several C-type lectin genes preferentially expressed on NK cells. KLRC2 alternative splice variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for KLRC2 Gene
KLRC2 (Killer Cell Lectin Like Receptor C2) is a Protein Coding gene. Diseases associated with KLRC2 include Ceftazidime Allergy and Thrombophlebitis Migrans. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Hematopoietic Stem Cells and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and MHC class I protein complex binding. An important paralog of this gene is ENSG00000255641.
UniProtKB/Swiss-Prot Summary for KLRC2 Gene
-
Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.
Additional gene information for KLRC2 Gene
- HGNC(6375)
- Entrez Gene(3822)
- Ensembl(ENSG00000205809)
- OMIM(602891)
- UniProtKB(P26717)
- Open Targets Platform(ENSG00000205809)
- Monarch Initiative
- Search for KLRC2 at DataMed
- Search for KLRC2 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLRC2 Gene
Genomics for KLRC2 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for KLRC2 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around KLRC2 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLRC2
- Top Transcription factor binding sites by QIAGEN in the KLRC2 gene promoter:
-
- AP-1
- ATF-2
- Bach2
- c-Jun
- Pax-3
Genomic Locations for KLRC2 Gene
Genomic Locations for KLRC2 Gene
- chr12:10,426,854-10,442,300
- (GRCh38/hg38)
- Size:
- 15,447 bases
- Orientation:
- Minus strand
- chr12:10,579,453-10,594,899
- (GRCh37/hg19)
- Size:
- 15,447 bases
- Orientation:
- Minus strand
Genomic View for KLRC2 Gene
Genes around KLRC2 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 12p13.2 by HGNC
- 12p13.2 by Entrez Gene
- 12p13.2 by Ensembl
KLRC2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KLRC2 Gene
Proteins for KLRC2 Gene
-
Protein details for KLRC2 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- P26717-NKG2C_HUMAN
- Recommended name:
- NKG2-C type II integral membrane protein
- Protein Accession:
- P26717
- O43802
- Q52M74
- Q9NR42
Protein attributes for KLRC2 Gene
- Size:
- 231 amino acids
- Molecular mass:
- 26072 Da
- Quaternary structure:
-
- Can form disulfide-bonded heterodimer with KLRD1. Interacts with TYROBP (PubMed:20890284). KLRD1-KLRC2 receptor complex can bind with low affinity to peptide-bound HLA-E-B2M complex (PubMed:18083576).
Post-translational modifications for KLRC2 Gene
-
Glycosylation at Asn100, Asn149, and Asn178
- NX_P26717 (NX_P26717-1)
Other Protein References for KLRC2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
-
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-
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-
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-
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Protein Products
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-
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Assay Products
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Quality Products:
No data available for DME Specific Peptides for KLRC2 Gene
Domains & Families for KLRC2 Gene
Gene Families for KLRC2 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- CD markers
- Predicted intracellular proteins
- Predicted membrane proteins
Protein Domains for KLRC2 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KLRC2 Gene
- GenScript: Design optimal peptide antigens:
-
- NKG2-C-activating NK receptor (NKG2C_HUMAN)
- KLRC2 protein (Q3KQS7_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLRC2 Gene
Function for KLRC2 Gene
Molecular function for KLRC2 Gene
- UniProtKB/Swiss-Prot Function:
- Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.
- GENATLAS Biochemistry:
- natural killer cell lectin-like receptor subfamily C,member 2
Phenotypes From GWAS Catalog for KLRC2 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004888 | transmembrane signaling receptor activity | TAS | 9683661 |
| GO:0005515 | protein binding | IPI | 18448674 |
| GO:0023024 | MHC class I protein complex binding | IPI | 18448674 |
| GO:0030246 | carbohydrate binding | IEA | -- |
| GO:1990405 | protein antigen binding | IDA | 18448674 |
Phenotypes for KLRC2 Gene
Animal Model Products
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CRISPR Products
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miRNA for KLRC2 Gene
- miRTarBase miRNAs that target KLRC2
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Clone Products
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Cell Line Products
-
Horizon Cell Lines for KLRC2
No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KLRC2 Gene
Localization for KLRC2 Gene
Subcellular locations from UniProtKB/Swiss-Prot for KLRC2 Gene
- Membrane. Single-pass type II membrane protein.
| Compartment | Confidence |
|---|---|
| plasma membrane | 4 |
| extracellular | 2 |
| mitochondrion | 2 |
| nucleus | 2 |
| cytosol | 2 |
| lysosome | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endoplasmic reticulum | 1 |
| endosome | 1 |
| golgi apparatus | 1 |
- Plasma membrane (2)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 8436421 |
| GO:0016020 | membrane | IEA | -- |
| GO:0016021 | integral component of membrane | IEA | -- |
| GO:0043235 | receptor complex | IDA | 18448674 |
Pathways & Interactions for KLRC2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Immune response Role of DAP12 receptors in NK cells |
Immune response Role of DAP12 receptors in NK cells
.32
|
|
| 2 | RET signaling |
.92
|
|
| 3 | Innate Immune System |
.61
|
|
| 4 | Allograft rejection | ||
| 5 | Hematopoietic Stem Cells and Lineage-specific Markers | ||
Pathways by source for KLRC2 Gene
4 Reactome pathways for KLRC2 Gene
2 KEGG pathways for KLRC2 Gene
1 GeneGo (Thomson Reuters) pathway for KLRC2 Gene
- Immune response Role of DAP12 receptors in NK cells
1 R&D Systems pathway for KLRC2 Gene
Interacting Proteins for KLRC2 Gene
GPS-Prot Interaction Network for KLRC2
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0002228 | natural killer cell mediated immunity | IDA | 18448674 |
| GO:0006968 | cellular defense response | TAS | 9683661 |
| GO:0007165 | signal transduction | TAS | 2007850 |
| GO:0045087 | innate immune response | TAS | -- |
No data available for SIGNOR curated interactions for KLRC2 Gene
Transcripts for KLRC2 Gene
mRNA/cDNA for KLRC2 Gene
- 1 REFSEQ mRNAs :
- 7 NCBI additional mRNA sequence :
- 6 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000381901 1211 nts (view in UCSC)
- ENST00000381902 1221 nts (view in UCSC)
- ENST00000535069 549 nts (view in UCSC)
- ENST00000536833 771 nts (view in UCSC)
- ENST00000537017 500 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for KLRC2 - Select products 50% OFF >
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-
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-
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miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KLRC2
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Clone Products
- Applied Biological Materials (abm): Clones for KLRC2 - Select products 50% OFF >
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- Sino Biological Human cDNA Clone for KLRC2
- Addgene plasmids for KLRC2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KLRC2
Relevant External Links for KLRC2 Gene
- GeneLoc Exon Structure for
- KLRC2
Expression for KLRC2 Gene
mRNA differential expression in normal tissues according to GTEx for KLRC2 Gene
This gene is overexpressed in Brain - Amygdala (x5.2) and Brain - Substantia nigra (x4.4).
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLRC2
SOURCE GeneReport for Unigene cluster for KLRC2 Gene:
Hs.591157mRNA Expression by UniProt/SwissProt for KLRC2 Gene:
P26717-NKG2C_HUMAN
Tissue specificity:
Natural killer cells.
Evidence on tissue expression from TISSUES for KLRC2 Gene
- Liver(4.4)
- Blood(2.8)
- Spleen(2.4)
- Lymph node(2.2)
Primer Products
-
OriGene qPCR primer pairs for KLRC2
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLRC2 Gene
Orthologs for KLRC2 Gene
This gene was present in the common ancestor of mammals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | LOC101058094 30 |
|
||
| KLRC2 31 |
|
OneToOne | |||
| Dog (Canis familiaris) |
Mammalia | LOC609192 30 |
|
||
| -- 31 |
|
ManyToMany | |||
| Cow (Bos Taurus) |
Mammalia | -- 31 |
|
ManyToMany | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| Mouse (Mus musculus) |
Mammalia | Klre1 31 |
|
ManyToMany |
- Species where no ortholog for KLRC2 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium 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)
- Rainbow Trout (Oncorhynchus mykiss)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- Rice Blast Fungus (Magnaporthe grisea)
- Schistosome Parasite (Schistosoma mansoni)
- Sea Anemone (Nematostella vectensis)
- Sea Vase (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 KLRC2 Gene
- ENSEMBL:
- Gene Tree for KLRC2 (if available)
- TreeFam:
- Gene Tree for KLRC2 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KLRC2: view image
Paralogs for KLRC2 Gene
Paralogs for KLRC2 Gene
(19) SIMAP similar genes for KLRC2 Gene using alignment to 6 proteins:
- NKG2C_HUMAN
- F5H518_HUMAN
- H0YFK4_HUMAN
- H0YGY2_HUMAN
- J3KPJ4_HUMAN
- Q3KQS7_HUMAN
Pseudogenes.org Pseudogenes for KLRC2 Gene
Variants for KLRC2 Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for KLRC2 Gene
- NKG2C_HUMAN-P26717
- Two alleles are known. The sequence shown is that of allele NKG2-C*01.
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLRC2 Gene
| SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 724292 | Benign: not provided | 10,435,819(-) | A/G | SYNONYMOUS_VARIANT | |
| 768518 | Benign: not provided | 10,434,512(-) | A/G | MISSENSE_VARIANT | |
| 769386 | Benign: not provided | 10,435,931(-) | C/G | MISSENSE_VARIANT | |
| 769387 | Benign: not provided | 10,435,982(-) | T/C | MISSENSE_VARIANT | |
| rs28403159 | - | p.Ser2Asn |
Residual Variation Intolerance Score:
88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
0.30;
6.67% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KLRC2 Gene
SNP Genotyping and Copy Number Assay Products
Disorders for KLRC2 Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ceftazidime allergy |
|
|
| thrombophlebitis migrans |
|
|
| celiac disease 1 |
|
|
| leukemia, acute myeloid |
|
|
Search KLRC2 in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for KLRC2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for UniProtKB/Swiss-Prot and Genatlas for KLRC2 Gene
Publications for KLRC2 Gene
- Molecular genetic analyses of human NKG2C (KLRC2) gene deletion. (PMID: 14688071) Miyashita R … Tokunaga K (International immunology 2004) 3 23 41
- Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion in the general population. (PMID: 12618865) Hikami K … Tokunaga K (Genes and immunity 2003) 3 23 41
- The structural basis for intramembrane assembly of an activating immunoreceptor complex. (PMID: 20890284) Call ME … Chou JJ (Nature immunology 2010) 3 4
- Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41
- Inhibitory NKG2A and activating NKG2D and NKG2C natural killer cell receptor genes: susceptibility for rheumatoid arthritis. (PMID: 18700876) Park KS … Song YW (Tissue antigens 2008) 3 41
ExternalLinks
Products for KLRC2 Gene
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Sources for KLRC2 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
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