KLRC2 (killer cell lectin like receptor C2)

Gene

• Entrez ID: 3822
• Gene name: Killer cell lectin like receptor C2
• Gene symbol: KLRC2
• Synonyms (NCBI Gene): CD159c, NKG2-C, NKG2C
• Chromosome: 12
• Chromosome location: 12p13.2
• Summary: 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 calci

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT017833	hsa-miR-335-5p	Microarray	18185580
MIRT029433	hsa-miR-26b-5p	Microarray	19088304
MIRT1099200	hsa-miR-125a-5p	CLIP-seq
MIRT1099201	hsa-miR-125b	CLIP-seq
MIRT1099202	hsa-miR-1305	CLIP-seq
MIRT1099203	hsa-miR-3545-5p	CLIP-seq
MIRT1099204	hsa-miR-3929	CLIP-seq
MIRT1099205	hsa-miR-4319	CLIP-seq
MIRT1099206	hsa-miR-4419b	CLIP-seq
MIRT1099207	hsa-miR-4478	CLIP-seq
MIRT1099208	hsa-miR-4714-3p	CLIP-seq
MIRT1099209	hsa-miR-4719	CLIP-seq
MIRT1099210	hsa-miR-4732-3p	CLIP-seq
MIRT1099211	hsa-miR-548aa	CLIP-seq
MIRT1099212	hsa-miR-570	CLIP-seq
MIRT1099213	hsa-miR-670	CLIP-seq
MIRT2026941	hsa-miR-147	CLIP-seq
MIRT2026942	hsa-miR-324-5p	CLIP-seq
MIRT1099204	hsa-miR-3929	CLIP-seq
MIRT1099206	hsa-miR-4419b	CLIP-seq
MIRT1099207	hsa-miR-4478	CLIP-seq
MIRT1099212	hsa-miR-570	CLIP-seq
MIRT2026943	hsa-miR-891b	CLIP-seq
MIRT2026941	hsa-miR-147	CLIP-seq
MIRT2026942	hsa-miR-324-5p	CLIP-seq
MIRT2683641	hsa-miR-3120-5p	CLIP-seq
MIRT2683642	hsa-miR-4652-3p	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	IBA
GO:0002223	Process	Stimulatory C-type lectin receptor signaling pathway	IDA	9655483
GO:0002228	Process	Natural killer cell mediated immunity	IDA	9655483
GO:0002228	Process	Natural killer cell mediated immunity	IDA	18448674
GO:0002250	Process	Adaptive immune response	IEA
GO:0002376	Process	Immune system process	IEA
GO:0002768	Process	Immune response-regulating cell surface receptor signaling pathway	IEA
GO:0004888	Function	Transmembrane signaling receptor activity	IBA
GO:0004888	Function	Transmembrane signaling receptor activity	TAS	9683661
GO:0005515	Function	Protein binding	IPI	9655483, 18083576, 18448674, 32575403
GO:0005886	Component	Plasma membrane	IDA	9655483, 21825173
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	ISO
GO:0005886	Component	Plasma membrane	TAS	8436421
GO:0006968	Process	Cellular defense response	IEA
GO:0006968	Process	Cellular defense response	TAS	9683661
GO:0007165	Process	Signal transduction	TAS	2007850
GO:0009897	Component	External side of plasma membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0023024	Function	MHC class I protein complex binding	IEA
GO:0023024	Function	MHC class I protein complex binding	IPI	18448674
GO:0030246	Function	Carbohydrate binding	IEA
GO:0032394	Function	MHC class Ib receptor activity	IEA
GO:0032814	Process	Regulation of natural killer cell activation	NAS	18448674
GO:0042269	Process	Regulation of natural killer cell mediated cytotoxicity	IEA
GO:0043235	Component	Receptor complex	IDA	18448674
GO:0043235	Component	Receptor complex	IEA
GO:0043235	Component	Receptor complex	ISS
GO:0043323	Process	Positive regulation of natural killer cell degranulation	IDA	21825173
GO:0045087	Process	Innate immune response	IEA
GO:0045954	Process	Positive regulation of natural killer cell mediated cytotoxicity	IBA
GO:0045954	Process	Positive regulation of natural killer cell mediated cytotoxicity	IDA	9754572
GO:0062081	Function	Activating MHC class Ib receptor activity	IDA	9754572, 37264229
GO:1990405	Function	Protein antigen binding	IDA	18448674

Other IDs

• MIM: 602891
• HGNC: 6375
• e!Ensembl: ENSG00000205809

Protein

• UniProt ID: P26717
• Protein name: NKG2-C type II integral membrane protein (CD159 antigen-like family member C) (NK cell receptor C) (NKG2-C-activating NK receptor) (CD antigen CD159c)
• Protein function: Immune activating receptor involved in self-nonself discrimination. In complex with KLRD1 on cytotoxic lymphocyte subsets, recognizes non-classical major histocompatibility (MHC) class Ib HLA-E loaded with signal sequence-derived peptides from n
• PDB: 2L35
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00059	Lectin_C	134 → 229	Lectin C-type domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in NK cell subsets, in particular in adaptive CD57-positive NK cells (at protein level) (PubMed:20952657, PubMed:21825173). Expressed in terminally differentiated cytotoxic gamma-delta T cells (at protein level) (PubMed:20952
• Sequence:

  MSKQRGTFSEVSLAQDPKRQQRKPKGNKSSISGTEQEIFQVELNLQNPSLNHQGIDKIYD
  CQGLLPPPEKLTAEVLGIICIVLMATVLKTIVLIPFLEQNNSSPNTRTQKARHCGHCPEE
  WITYSNSCYYIGKERRTWEESLLACTSKNSSLLSIDNEEEMKFLASILPSSWIGVFRNSS
  HHPWVTINGLAFKHKIKDSDNAELNCAVLQVNRLKSAQCGSSMIYHCKHKL

• Sequence length: 231

Pathways

KEGG:

Antigen processing and presentation
Natural killer cell mediated cytotoxicity

Reactome:

DAP12 interactions
DAP12 signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CREUTZFELDT-JAKOB DISEASE	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CREUTZFELDT-JAKOB SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Arthritis	Arthritis	BEFREE	17767552		★☆☆☆☆ Found in Text Mining only
ATRIAL SEPTAL DEFECT 1	Atrial Septal Defect	BEFREE	31123562		★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	BEFREE	31123562		★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorder	Autism	Pubtator	31123562, 37352688	Associate	★☆☆☆☆ Found in Text Mining only
Autism Spectrum Disorders	Autism Spectrum Disorder	BEFREE	31123562		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet Syndrome	BEFREE	17767552		★☆☆☆☆ Found in Text Mining only
Behcet Syndrome	Behcet disease	Pubtator	23336215	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	37081323	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	37501379	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	37919459	Associate	★☆☆☆☆ Found in Text Mining only
Celiac Disease	Celiac disease	BEFREE	21616111, 30448772		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal Neoplasms	BEFREE	24307732		★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	25814467		★☆☆☆☆ Found in Text Mining only
Creutzfeldt-Jakob Disease, Familial	Creutzfeldt-Jakob disease	CTD_human_DG	23349890		★☆☆☆☆ Found in Text Mining only
Eclampsia	Eclampsia	BEFREE	30786156		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	37352688	Associate	★☆☆☆☆ Found in Text Mining only
Fatigue Syndrome Chronic	Fatigue syndrome	Pubtator	29867995	Inhibit	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	35628668	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35628668	Associate	★☆☆☆☆ Found in Text Mining only
Graft vs Host Disease	Graft-versus-host disease	Pubtator	35572602	Associate	★☆☆☆☆ Found in Text Mining only
Graft-vs-Host Disease	Graft-Vs-Host Disease	BEFREE	27801784		★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	27624647	Associate	★☆☆☆☆ Found in Text Mining only
Hemorrhagic Fever with Renal Syndrome	Hemorrhagic fever with renal syndrome	Pubtator	34871302	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	19470388	Stimulate	★☆☆☆☆ Found in Text Mining only
Hepatitis B	Hepatitis b	Pubtator	32358389	Associate	★☆☆☆☆ Found in Text Mining only
Hepatitis C Chronic	Hepatitis c	Pubtator	19747917	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	30949182, 34559552	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	15911091	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	12493014, 12618865, 14688071		★☆☆☆☆ Found in Text Mining only
Lymphoma	Lymphoma	Pubtator	15940674, 37426645	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24307732		★☆☆☆☆ Found in Text Mining only
Malnutrition	Malnutrition	Pubtator	32131843	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	Pubtator	10848781	Associate	★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple Sclerosis	BEFREE	23396942, 24144875, 29528545, 31681293		★☆☆☆☆ Found in Text Mining only
Multiple Sclerosis	Multiple sclerosis	Pubtator	31681293	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	25636564		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11918704, 23552990		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	33968044	Associate	★☆☆☆☆ Found in Text Mining only
New Variant Creutzfeldt-Jakob Disease	Creutzfeldt-Jakob Disease	CTD_human_DG	23349890		★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	24079744		★☆☆☆☆ Found in Text Mining only
Pulmonary Disease Chronic Obstructive	Chronic obstructive pulmonary disease	Pubtator	32131843	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	12618865, 14688071, 18700876		★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	17035308	Associate	★☆☆☆☆ Found in Text Mining only
Situs Inversus	Situs Inversus	BEFREE	29851983		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35184420	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	39643914	Stimulate	★☆☆☆☆ Found in Text Mining only
Uveitis Anterior	Anterior uveitis	Pubtator	33807229	Associate	★☆☆☆☆ Found in Text Mining only
Uveomeningoencephalitic Syndrome	Uveomeningoencephalitic syndrome	Pubtator	35958546	Associate	★☆☆☆☆ Found in Text Mining only