KIR2DL5B Gene

HGNC Family Killer cell immunoglobulin-like receptors (KIR), Immunoglobulin superfamily domain containing
Name killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5B
Description 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. [provided by RefSeq, Jul 2008]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nKIR2DL5B is an inhibitory killer cell immunoglobulin‐like receptor expressed on natural killer cells that helps regulate immune responses. Detailed allele analyses have revealed that KIR2DL5B exhibits considerable genetic variability, including differences in its promoter and coding regions that can impact receptor expression and function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": "\n \nIn autoimmune and neoplastic conditions, KIR2DL5B appears to play a complex immunomodulatory role. For example, in celiac disease, the specific combination of KIR2DL5B positivity concurrent with the absence of KIR2DL5A has been associated with increased disease susceptibility—possibly reflecting an inefficient inhibitory signal in natural killer cell function."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": " Similarly, studies in nasopharyngeal carcinoma demonstrate that patients show significantly higher frequencies of this inhibitory receptor, suggesting its involvement in tumor immunosurveillance, while data from influenza research indicate that inhibitory KIRs, including KIR2DL5, may contribute to the severity of infection."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": "\n \nConversely, in the context of viral infections such as HIV-1, the presence of KIR2DL5B has been correlated with a protective effect among seronegative partners in discordant couples, emphasizing its role in fine-tuning NK cell cytotoxicity for effective antiviral defense."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Collectively, these findings suggest that KIR2DL5B functions as a key inhibitory modulator of NK cell activity, and its allelic diversity contributes to differential disease outcomes in autoimmunity, cancer, and infectious diseases.\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "I Santin, A Castellanos-Rubio, G Perez de Nanclares, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of KIR2DL5B gene with celiac disease supports the susceptibility locus on 19q13.4."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genes Immun (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/sj.gene.6364367"}], "href": "https://doi.org/10.1038/sj.gene.6364367"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17215859"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17215859"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Tiernan J Mulrooney, LiHua Hou, Noriko K Steiner, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Promoter variants of KIR2DL5 add to diversity and may impact gene expression."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Immunogenetics (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00251-008-0273-7"}], "href": "https://doi.org/10.1007/s00251-008-0273-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18461314"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18461314"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Liang Lu, Shi-Zheng Jin, Da-Ming Wang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Correlation of killer immunoglobulin-like receptor gene diversity with nasopharyngeal carcinoma in Chinese southern Han population]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhongguo Shi Yan Xue Ye Xue Za Zhi (2011)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21729574"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21729574"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Saray Aranda-Romo, Christian A Garcia-Sepulveda, Andreu Comas-García, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Killer-cell immunoglobulin-like receptors (KIR) in severe A (H1N1) 2009 influenza infections."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Immunogenetics (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00251-012-0623-3"}], "href": "https://doi.org/10.1007/s00251-012-0623-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22652695"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22652695"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Tatiana Doriane Lallogo, Florencia W Djigma, Pegdwendé Abel Sorgho, et al. "}, {"type": "b", "children": [{"type": "t", "text": "KIR2DL5B and HLA DRB1*12 alleles seems to be associated with protection against HIV-1 in serodiscordant couples in Burkina Faso."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Virol (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jmv.27821"}], "href": "https://doi.org/10.1002/jmv.27821"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35501290"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35501290"}]}]}]}
Synonyms KIR2DLX, KIR2DL5.2
Proteins KI2LB_HUMAN
NCBI Gene ID 553128
API
Download Associations
Predicted Functions View KIR2DL5B's ARCHS4 Predicted Functions.
Co-expressed Genes View KIR2DL5B's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View KIR2DL5B's ARCHS4 Predicted Functions.

Functional Associations

KIR2DL5B has 182 functional associations with biological entities spanning 5 categories (molecular profile, disease, phenotype or trait, functional term, phrase or reference, chemical, gene, protein or microRNA) extracted from 14 datasets.

Click the + buttons to view associations for KIR2DL5B from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of KIR2DL5B gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of KIR2DL5B gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
DisGeNET Gene-Disease Associations diseases associated with KIR2DL5B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with KIR2DL5B gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
GAD Gene-Disease Associations diseases associated with KIR2DL5B gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with KIR2DL5B gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of KIR2DL5B gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of KIR2DL5B gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with KIR2DL5B gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of KIR2DL5B gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
Rummagene Transcription Factor Associations 2026 transcription factors regulating expression of KIR2DL5B gene from the Rummagene Transcription Factor Associations 2026 dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of KIR2DL5B gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of KIR2DL5B gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of KIR2DL5B gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.