NCR3 (natural cytotoxicity triggering receptor 3)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 259197
Gene name Natural cytotoxicity triggering receptor 3
Gene symbol NCR3
Synonyms (NCBI Gene)
1C7CD337LY117MALSNKp30
Chromosome 6
Chromosome location 6p21.33
Summary The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5` untranslated re
SNPs SNP information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (1)
SNP ID Visualize variation Clinical significance Consequence
rs2736191 C>G Risk-factor Upstream transcript variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT1177641 hsa-miR-326 CLIP-seq
MIRT1177642 hsa-miR-330-5p CLIP-seq
MIRT1177643 hsa-miR-3671 CLIP-seq
MIRT1177644 hsa-miR-4667-5p CLIP-seq
MIRT1177645 hsa-miR-4700-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0002376 Process Immune system process IEA
GO:0002429 Process Immune response-activating cell surface receptor signaling pathway IBA
GO:0002429 Process Immune response-activating cell surface receptor signaling pathway IDA 18852879
GO:0002429 Process Immune response-activating cell surface receptor signaling pathway IEA
GO:0005515 Function Protein binding IPI 18055229, 18852879, 19528259, 21422170, 21444796, 22807449, 24133212, 24275655, 25315772, 27754869, 32296183
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
611550 19077 ENSG00000204475
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O14931
Protein name Natural cytotoxicity triggering receptor 3 (Activating natural killer receptor p30) (Natural killer cell p30-related protein) (NK-p30) (NKp30) (CD antigen CD337)
Protein function Cell membrane receptor of natural killer/NK cells that is activated by binding of extracellular ligands including BAG6 and NCR3LG1. Stimulates NK cells cytotoxicity toward neighboring cells producing these ligands. It controls, for instance, NK
PDB 3NOI , 3PV6 , 6YJP , 9FWW
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 22 → 128 Immunoglobulin V-set domain Domain
Tissue specificity TISSUE SPECIFICITY: Selectively expressed by all resting and activated NK cells and weakly expressed in spleen. {ECO:0000269|PubMed:10562324, ECO:0000269|Ref.2}.
Sequence 
MAWMLLLILIMVHPGSCALWVSQPPEIRTLEGSSAFLPCSFNASQGRLAIGSVTWFRDEV
VPGKEVRNGTPEFRGRLAPLASSRFLHDHQAELHIRDVRGHDASIYVCRVEVLGLGVGTG
NGTRLVVEKEHPQLGAGTVLLLRAGFYAVSFLSVAVGSTVYYQGKCLTWKGPRRQLPAVV
PAPLPPPCGSSAHLLPPVPGG
Sequence length 201
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Natural killer cell mediated cytotoxicity   Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways 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)
Show/Hide Causal Diseases (2)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
Malaria, mild, susceptibility to Pathogenic rs2736191 RCV000000924
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malaria, severe, susceptibility to Pathogenic rs2736191, rs11575837 RCV002466390
RCV002467393
★★★★★
★★★★☆
ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Show/Hide Unknown Diseases (21)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATOPIC ASTHMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE THYROID DISEASE — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (85)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute myeloid leukemia, minimal differentiation Myeloid Leukemia BEFREE 16239914
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 28928446
★★★★★
★☆☆☆☆
Found in Text Mining only
Angina Pectoris Angina pectoris Pubtator 26823790 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Arthritis BEFREE 27303036, 28315676
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma Pubtator 18581330 Stimulate
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Autoimmune Diseases Autoimmune disease Pubtator 18852879 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 23884464, 28315676
★★★★★
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Behcet disease Pubtator 36857067 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Hepatocellular carcinoma Pubtator 30153337, 35283421 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Pancreatic Ductal Pancreatic ductal carcinoma Pubtator 33299656 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only