KIR2DL2 (killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 3803
Gene name Killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 2
Gene symbol KIR2DL2
Synonyms (NCBI Gene)
CD158B1CD158bNKAT-6NKAT6p58.2
Chromosome 19
Chromosome location 19q13.4
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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
6
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (6)
GO ID Ontology Definition Evidence Reference
GO:0002764 Process Immune response-regulating signaling pathway IBA
GO:0005515 Function Protein binding IPI 18322206, 24018270
GO:0005886 Component Plasma membrane IBA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604937 6330 HGNC
Protein Protein information from UniProt database.
Gene 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.
P43627
Protein name Killer cell immunoglobulin-like receptor 2DL2 (CD158 antigen-like family member B1) (Natural killer-associated transcript 6) (NKAT-6) (p58 natural killer cell receptor clone CL-43) (p58 NK receptor CL-43) (CD antigen CD158b1)
Protein function Receptor on natural killer (NK) cells for HLA-Cw1, 3, 7, and 8 allotypes. Inhibits the activity of NK cells thus preventing cell lysis.
PDB 1EFX , 2DL2 , 2DLI , 6PA1 , 8TMU
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00047 ig 32 → 115 Immunoglobulin domain Domain
PF00047 ig 132 → 213 Immunoglobulin domain Domain
Sequence 
MSLMVVSMACVGFFLLQGAWPHEGVHRKPSLLAHPGRLVKSEETVILQCWSDVRFEHFLL
HREGKFKDTLHLIGEHHDGVSKANFSIGPMMQDLAGTYRCYGSVTHSPYQLSAPSDPLDI
VITGLYEKPSLSAQPGPTVLAGESVTLSCSSRSSYDMYHLSREGEAHECRFSAGPKVNGT
FQADFPLGPATHGGTYRCFGSFRDSPYEWSNSSDPLLVSVIGNPSNSWPSPTEPSSKTGN
PRHLHILIGTSVVIILFILLFFLLHRWCSNKKNAAVMDQESAGNRTANSEDSDEQDPQEV
TYTQLNHCVFTQRKITRPSQRPKTPPTDIIVYAELPNAESRSKVVSCP
Sequence length 348
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  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.).
2
Gene 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 Unknown Diseases (2)
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
AUTOIMMUNE CHRONIC HEPATITIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTOIMMUNE HEPATITIS WITH CENTRILOBULAR NECROSIS — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (67)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Angina Pectoris Angina pectoris Pubtator 26823790 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 12218090, 35169985 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 21373785, 31284249 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 22960345, 32246007 Stimulate
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Rheumatoid Rheumatoid arthritis Pubtator 26658904 Inhibit
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Diseases Autoimmune Diseases BEFREE 18340360
★★★★★
★☆☆☆☆
Found in Text Mining only
Birdshot chorioretinopathy Birdshot Chorioretinopathy BEFREE 18340360
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Renal cell carcinoma Pubtator 10779435 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Chagas Disease Chagas disease Pubtator 25978047 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Chronic Disease Chronic disease Pubtator 24935928 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only