Version 5.4
| Homo sapiens Gene: KIR2DL4 | |||||||||||||||||||
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| 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
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| Protein Structure |
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| 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] |
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| Gene Information | |||||||||||||||||||
| Type | Protein coding | ||||||||||||||||||
| Genomic Location | Chromosome 19:54803535-54814517 | ||||||||||||||||||
| Strand | Forward strand | ||||||||||||||||||
| Band | q13.42 | ||||||||||||||||||
| Transcripts | |||||||||||||||||||
| Interactions | |||||||||||||||||||
| Number of Interactions |
This gene and/or its encoded proteins are associated with 18 experimentally validated interaction(s) in this database.
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| Gene Ontology | |||||||||||||||||||
Molecular Function |
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| Biological Process |
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| Cellular Component |
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| 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
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| KEGG |
Antigen processing and presentation pathway
Natural killer cell mediated cytotoxicity pathway
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| INOH | |||||||||||||||||||
| PID NCI | |||||||||||||||||||
| Cross-References | |||||||||||||||||||
| SwissProt | Q99706 | ||||||||||||||||||
| TrEMBL | C3VNC1 C3VNC8 C3VNC9 Q32WE1 Q5IHW5 Q8N736 Q96L48 Q96L49 | ||||||||||||||||||
| UniProt Splice Variant | |||||||||||||||||||
| Entrez Gene | 3805 | ||||||||||||||||||
| UniGene | Hs.661219 | ||||||||||||||||||
| RefSeq | NM_001080770 NM_001080772 NM_002255 | ||||||||||||||||||
| HUGO | HGNC:6332 | ||||||||||||||||||
| OMIM | 604945 | ||||||||||||||||||
| CCDS | CCDS42619 CCDS42620 | ||||||||||||||||||
| HPRD | |||||||||||||||||||
| IMGT | |||||||||||||||||||
| EMBL | AC006293 AC011501 AF002979 AF002980 AF002981 AF002982 AF003116 AF003117 AF003118 AF003119 AF003120 AF003121 AF003122 AF003123 AF034771 AF034772 AF034773 AF110032 AF110033 AF110034 AF110035 AH014556 AH014557 AH014563 AL133414 AY052496 AY052497 AY727757 AY727758 AY727763 AY789060 EF095157 EU194342 FJ878883 FJ878884 FJ878885 U71199 U73394 X97229 X99479 X99480 X99481 | ||||||||||||||||||
| GenPept | AAB49756 AAB61926 AAB71387 AAB71388 AAB71389 AAB71390 AAB95164 AAB95165 AAB95166 AAC51146 AAD24763 AAL14211 AAL14212 AAW32088 AAW32089 AAW32094 AAW32125 AAW32126 AAW32132 AAX23105 ABN13877 ABW73961 ACP20196 ACP20199 ACP20202 ACP20203 ACP20204 CAA65868 CAA67842 CAA67843 CAA67844 CAC40708 | ||||||||||||||||||
| RNA Seq Atlas | 3805 | ||||||||||||||||||