Gene Gene information from NCBI Gene database.
Entrez ID 3812
Gene name Killer cell immunoglobulin like receptor, three Ig domains and long cytoplasmic tail 2
Gene symbol KIR3DL2
Synonyms (NCBI Gene)
3DL2CD158KKIR-3DL2NKAT-4NKAT4NKAT4Bp140
Chromosome 19
Chromosome location 19q13.42
Summary Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells and subsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome 19q13.4 within the
miRNA miRNA information provided by mirtarbase database.
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miRTarBase ID miRNA Experiments Reference
MIRT021805 hsa-miR-132-3p Microarray 17612493
MIRT1095265 hsa-miR-138 CLIP-seq
MIRT1095266 hsa-miR-3126-3p CLIP-seq
MIRT1095267 hsa-miR-4267 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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GO ID Ontology Definition Evidence Reference
GO:0002764 Process Immune response-regulating signaling pathway IBA
GO:0005515 Function Protein binding IPI 24018270, 27455421
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 7716543
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
604947 6339 ENSG00000240403
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P43630
Protein name Killer cell immunoglobulin-like receptor 3DL2 (CD158 antigen-like family member K) (Natural killer-associated transcript 4) (NKAT-4) (p70 natural killer cell receptor clone CL-5) (p70 NK receptor CL-5) (CD antigen CD158k)
Protein function Receptor on natural killer (NK) cells and T cells for MHC class I molecules (PubMed:24018270, PubMed:28636952). Upon binding of peptide-free HLA-F open conformer, negatively regulates NK and T cell effector functions (PubMed:24018270). Acts as a
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 32 110 Immunoglobulin domain Domain
PF00047 ig 127 210 Immunoglobulin domain Domain
PF00047 ig 227 307 Immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Expressed in astrocytes. {ECO:0000269|PubMed:26928464}.
Sequence
MSLTVVSMACVGFFLLQGAWPLMGGQDKPFLSARPSTVVPRGGHVALQCHYRRGFNNFML
YKEDRSHVPIFHGRIFQESFIMGPVTPAHAGTYRCRGSRPHSLTGWSAPS
NPLVIMVTGN
HRKPSLLAHPGPLLKSGETVILQCWSDVMFEHFFLHREGISEDPSRLVGQIHDGVSKANF
SIGPLMPVLAGTYRCYGSVPHSPYQLSAPS
DPLDIVITGLYEKPSLSAQPGPTVQAGENV
TLSCSSWSSYDIYHLSREGEAHERRLRAVPKVNRTFQADFPLGPATHGGTYRCFGSFRAL
PCVWSNS
SDPLLVSVTGNPSSSWPSPTEPSSKSGICRHLHVLIGTSVVIFLFILLLFFLL
YRWCSNKKNAAVMDQEPAGDRTVNRQDSDEQDPQEVTYAQLDHCVFIQRKISRPSQRPKT
PLTDTSVYTELPNAEPRSKVVSCPRAPQSGLEGVF
Sequence length 455
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Antigen processing and presentation
Natural killer cell mediated cytotoxicity
Graft-versus-host disease
  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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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 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
ALZHEIMER DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Acquired Immunodeficiency Syndrome Associate 32266164
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma of Lung Associate 40179422
★☆☆☆☆
Found in Text Mining only
Amyloidosis Associate 26574972
★☆☆☆☆
Found in Text Mining only
Arthritis Associate 23804219
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Associate 21373785, 22960345, 26658904, 31284249
★☆☆☆☆
Found in Text Mining only
Autistic Disorder Associate 22884899
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Associate 25867094, 28569259, 33015197, 34339413
★☆☆☆☆
Found in Text Mining only
Behcet Syndrome Associate 31849952
★☆☆☆☆
Found in Text Mining only
Biliary Fistula Associate 36816626
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 24312130
★☆☆☆☆
Found in Text Mining only