Aliases for KIR2DL4 Gene
- Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 4 2 3 5
- Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic Tail, 4 2 3
- Killer Cell Inhibitory Receptor 103AS 3 4
- MHC Class I NK Cell Receptor KIR103AS 3 4
- CD158 Antigen-Like Family Member D 3 4
- KIR-103AS 3 4
- KIR103AS 3 4
External Ids for KIR2DL4 Gene
Previous GeneCards Identifiers for KIR2DL4 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 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. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016]
GeneCards Summary for KIR2DL4 Gene
KIR2DL4 (Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 4) is a Protein Coding gene. Diseases associated with KIR2DL4 include Duane Retraction Syndrome. Among its related pathways are Innate Immune System and Immune response Role of DAP12 receptors in NK cells. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is KIR3DL2.
UniProtKB/Swiss-Prot for KIR2DL4 Gene
Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.