Homo sapiens Gene: KIR2DL4
Summary
InnateDB Gene IDBG-69383.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol KIR2DL4
Gene Name killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
Synonyms CD158D; G9P; KIR-103AS; KIR103; KIR103AS;
Species Homo sapiens
Ensembl Gene ENSG00000189013
Encoded Proteins
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
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 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies among haplotypes, although several "framework" genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). The KIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they have a long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signals upon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the short cytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein to transduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIR proteins are thought to play an important role in regulation of the immune response. This gene is one of the "framework" loci that is present on all haplotypes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:54803535-54814517
Strand Forward strand
Band q13.42
Transcripts
ENST00000359085 ENSP00000351988
ENST00000345540 ENSP00000339634
ENST00000357494 ENSP00000350088
ENST00000346587 ENSP00000345331
ENST00000396293 ENSP00000379588
ENST00000396289 ENSP00000379584
ENST00000396284 ENSP00000379580
ENST00000486965
ENST00000463062
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
Experimentally validated
Total 18 [view]
Protein-Protein 10 [view]
Protein-DNA 8 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0004888 transmembrane signaling receptor activity
GO:0005515 protein binding
Biological Process
GO:0006968 cellular defense response
GO:0007165 signal transduction
GO:0050776 regulation of immune response
Cellular Component
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
Orthologs
No orthologs found for this gene
Pathways
NETPATH
REACTOME
Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell pathway
Adaptive Immune System pathway
Immune System pathway
KEGG
Antigen processing and presentation pathway
Natural killer cell mediated cytotoxicity pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.661219
RefSeq NM_001080770 NM_001080772 NM_002255
HUGO
OMIM
CCDS CCDS42619 CCDS42620
HPRD 16082
IMGT
EMBL
GenPept
RNA Seq Atlas