KIR2DL1 (killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1)

Gene
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
3802
Gene name Gene Name - the full gene name approved by the HGNC.
Killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KIR2DL1
Synonyms (NCBI Gene) Gene synonyms aliases
CD158A, KIR-K64, KIR221, KIR2DL3, NKAT, NKAT-1, NKAT1, p58.1
Chromosome Chromosome number
19
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
19q13.42
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(5)
miRTarBase ID miRNA Experiments Reference
MIRT1095225 hsa-miR-1294 CLIP-seq
MIRT1095226 hsa-miR-3650 CLIP-seq
MIRT1095227 hsa-miR-3915 CLIP-seq
MIRT1095228 hsa-miR-3928 CLIP-seq
MIRT1095229 hsa-miR-4316 CLIP-seq
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(8)
GO ID Ontology Definition Evidence Reference
GO:0002769 Process Natural killer cell inhibitory signaling pathway IDA 18604210
GO:0005515 Function Protein binding IPI 8691146, 18322206, 18604210, 18624290, 19858347, 28546555
GO:0005886 Component Plasma membrane IDA 18604210
GO:0005886 Component Plasma membrane TAS
GO:0005887 Component Integral component of plasma membrane TAS 7749980
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604936 6329 ENSG00000125498
Protein
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P43626
Protein name Killer cell immunoglobulin-like receptor 2DL1 (CD158 antigen-like family member A) (Natural killer-associated transcript 1) (NKAT-1) (p58 natural killer cell receptor clones CL-42/47.11) (p58 NK receptor CL-42/47.11) (p58.1 MHC class-I-specific NK recepto
Protein function Receptor on natural killer (NK) cells for some HLA-C alleles such as w4 and w6. Inhibits the activity of NK cells thus preventing cell lysis.
PDB 1IM9 , 1NKR
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
Tissue specificity TISSUE SPECIFICITY: Expressed by NK cells. {ECO:0000269|PubMed:9430221}.
Sequence 
MSLLVVSMACVGFFLLQGAWPHEGVHRKPSLLAHPGPLVKSEETVILQCWSDVMFEHFLL
HREGMFNDTLRLIGEHHDGVSKANFSISRMTQDLAGTYRCYGSVTHSPYQVSAPSDPLDI
VIIGLYEKPSLSAQPGPTVLAGENVTLSCSSRSSYDMYHLSREGEAHERRLPAGPKVNGT
FQADFPLGPATHGGTYRCFGSFHDSPYEWSKSSDPLLVSVTGNPSNSWPSPTEPSSKTGN
PRHLHILIGTSVVIILFILLFFLLHRWCSNKKNAAVMDQESAGNRTANSEDSDEQDPQEV
TYTQLNHCVFTQRKITRPSQRPKTPPTDIIVYTELPNAESRSKVVSCP
Sequence length 348
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal
Disease term Disease name dbSNP ID References
Hirschsprung disease Hirschsprung Disease rs76262710, rs75996173, rs77316810, rs75076352, rs76534745, rs76764689, rs76449634, rs377767412, rs193922699, rs75030001, rs606231342, rs1553540620, rs759944122, rs1057519322, rs1057519323
View all (4 more)		 19196962
Show/Hide Text Mining Associations (32)
Associations from Text Mining
Disease Name Relationship Type References
Arthritis Psoriatic Associate 12218090
Arthritis Rheumatoid Inhibit 11156551, 26658904
Breast Neoplasms Associate 35633551
Cardiovascular Diseases Inhibit 35071606
Colitis Ulcerative Associate 29649328
COVID 19 Associate 34453271, 37483595
Cytomegalovirus Infections Associate 23918974
Endometriosis Stimulate 11821086
Enteropathy Associated T Cell Lymphoma Associate 11253136
Esophageal Neoplasms Associate 34935568