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 "f... See more...

Aliases for KIR2DL4 Gene

Aliases for KIR2DL4 Gene

  • Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 4 2 3 5
  • CD158D 2 3 4
  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic Tail, 4 2 3
  • Killer Cell Immunoglobulin-Like Receptor 2DL4 3 4
  • MHC Class I NK Cell Receptor KIR103AS 3 4
  • Killer Cell Inhibitory Receptor 103AS 3 4
  • CD158 Antigen-Like Family Member D 3 4
  • KIR-103AS 3 4
  • KIR103AS 3 4
  • G9P 3 4
  • KIR2DL4 Killer-Cell Immunoglobulin-Like Receptor 3
  • KIR2DL4_00201 Protein 3
  • CD158d Antigen 4
  • KIR2DL4_00201 3
  • KIR-2DL4 3
  • KIR2DL4 5
  • KIR103 3
  • 15.212 2
  • 103AS 2

External Ids for KIR2DL4 Gene

Previous GeneCards Identifiers for KIR2DL4 Gene

  • GC19P055439
  • GC19P055661
  • GC19P059973
  • GC19P060007
  • GC00P9Q0057
  • GC19P9H0057
  • GC19P9I0057
  • GC19P060018
  • GC19P060022
  • GC19P060023
  • GC19P055239
  • GC19P055242
  • GC19P051637
  • GC19P055247
  • GC19P055250
  • GC19P055255
  • GC19P055260
  • GC19P055265
  • GC19P055272
  • GC19P055276
  • GC19P054878
  • GC19P054897
  • GC19P055101
  • GC19P055130
  • GC19P055153
  • GC19P055292
  • GC19P054915
  • GC19P054933
  • GC19P054952
  • GC19P054976
  • GC19P054994
  • GC19P055022
  • GC19P055049
  • GC19P055076

Summaries for KIR2DL4 Gene

Entrez Gene Summary 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 Partial Duplication Of Chromosome 19 and Acute Diarrhea. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and Innate Immune System. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is KIR3DL2.

UniProtKB/Swiss-Prot Summary for KIR2DL4 Gene

  • Receptor for non-classical major histocompatibility class Ib HLA-G molecules. Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (peptide-bound HLA-G-B2M). In decidual NK cells, binds peptide-bound HLA-G-B2M complex and triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:23184984, PubMed:29262349, PubMed:16366734). May play a role in balancing tolerance and antiviral-immunity at maternal-fetal interface by keeping in check the effector functions of NK, CD8+ T cells and B cells (PubMed:10190900, PubMed:16366734). Upon interaction with peptide-bound HLA-G-B2M, initiates signaling from the endosomal compartment leading to downstream activation of PRKDC-XRCC5 and AKT1, and ultimately triggering NF-kappa-B-dependent proinflammatory response (PubMed:20179272).

Gene Wiki entry for KIR2DL4 Gene

Additional gene information for KIR2DL4 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIR2DL4 Gene

Genomics for KIR2DL4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KIR2DL4 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J054803 Promoter/Enhancer 0.7 EPDnew Ensembl 600.7 +0.5 453 0.8 CREB1 BHLHE40 KIR2DL4 KIR3DL2 KIR3DL1
GH19J055382 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.9 +583.3 583329 8.2 SP1 CREB1 HNRNPL REST ZNF629 TFE3 NFKBIZ CTCF ZNF692 POLR2A RPL28 MIR6805 TMEM238 piR-50436 IL11 ZNF628 LENG8-AS1 COX6B2 BRSK1 FAM71E2
GH19J055653 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 5.3 +853.0 852978 9 ZNF221 SP1 GATAD2A CTCF HNRNPL PRDM10 ZNF629 TFE3 ZNF512 RFX1 U2AF2 ZNF580 ENSG00000267523 ZNF581 ENSG00000267096 ZNF471 ZNF582 KMT5C ZNF470 ZNF542P
GH19J054695 Promoter 0.9 Ensembl 12.1 -106.7 -106734 1.6 IKZF1 DPF2 ETV6 EP300 POLR2A CTBP1 NFE2 ZNF316 NFRKB NCOR1 LILRP1 KIR3DL3 KIR2DL3 KIR2DL4 KIR3DL1 KIR3DX1 GP6 ENSG00000228790 lnc-KIR3DL3-2 LILRB4
GH19J054694 Enhancer 0.2 Ensembl 12.1 -108.6 -108634 0.6 LILRP1 piR-61101-349 KIR3DL3 KIR2DL3 KIR2DL4 KIR3DL1 KIR3DX1 GP6 LILRB4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIR2DL4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KIR2DL4

Top Transcription factor binding sites by QIAGEN in the KIR2DL4 gene promoter:
  • AREB6
  • CREB
  • deltaCREB
  • GCNF
  • GCNF-1
  • GCNF-2
  • PPAR-gamma1
  • PPAR-gamma2
  • RORalpha1

Genomic Locations for KIR2DL4 Gene

Genomic Locations for KIR2DL4 Gene
chr19:54,803,535-54,814,517
(GRCh38/hg38)
Size:
10,983 bases
Orientation:
Plus strand
chr19:55,236,002-55,325,972
(GRCh37/hg19)
Size:
89,971 bases
Orientation:
Plus strand

Genomic View for KIR2DL4 Gene

Genes around KIR2DL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIR2DL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIR2DL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for KIR2DL4 Gene

  • Protein details for KIR2DL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99706-KI2L4_HUMAN
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DL4
    Protein Accession:
    Q99706
    Secondary Accessions:
    • A8W795
    • O14621
    • O14622
    • O14623
    • O14624
    • O43534
    • P78400
    • P78401
    • Q8N738
    • Q99559
    • Q99560
    • Q99561
    • Q99562
    • Q9UQJ7

    Protein attributes for KIR2DL4 Gene

    Size:
    377 amino acids
    Molecular mass:
    41487 Da
    Quaternary structure:
    • Interacts with peptide-bound HLA-G-B2M heterotrimeric complex (PubMed:10190900, PubMed:16366734). Interacts with ARRB2 (PubMed:18604210).

    Three dimensional structures from OCA and Proteopedia for KIR2DL4 Gene

    Alternative splice isoforms for KIR2DL4 Gene

neXtProt entry for KIR2DL4 Gene

Post-translational modifications for KIR2DL4 Gene

  • Glycosylation at Asn141 and Asn175
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for KIR2DL4 Gene

Domains & Families for KIR2DL4 Gene

Gene Families for KIR2DL4 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KIR2DL4 Gene

Suggested Antigen Peptide Sequences for KIR2DL4 Gene

GenScript: Design optimal peptide antigens:
  • KIR2DL4 (A3R3E3_HUMAN)
  • KIR2DL4 (A7YL15_HUMAN)
  • KIR2DL4 (A8W793_HUMAN)
  • KIR2DL4 (A8W794_HUMAN)
  • KIR2DL4 (E0X065_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q99706

UniProtKB/Swiss-Prot:

KI2L4_HUMAN :
  • Belongs to the immunoglobulin superfamily.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIR2DL4: view

Function for KIR2DL4 Gene

Molecular function for KIR2DL4 Gene

UniProtKB/Swiss-Prot Function:
Receptor for non-classical major histocompatibility class Ib HLA-G molecules. Recognizes HLA-G in complex with B2M/beta-2 microglobulin and a nonamer self-peptide (peptide-bound HLA-G-B2M). In decidual NK cells, binds peptide-bound HLA-G-B2M complex and triggers NK cell senescence-associated secretory phenotype as a molecular switch to promote vascular remodeling and fetal growth in early pregnancy (PubMed:23184984, PubMed:29262349, PubMed:16366734). May play a role in balancing tolerance and antiviral-immunity at maternal-fetal interface by keeping in check the effector functions of NK, CD8+ T cells and B cells (PubMed:10190900, PubMed:16366734). Upon interaction with peptide-bound HLA-G-B2M, initiates signaling from the endosomal compartment leading to downstream activation of PRKDC-XRCC5 and AKT1, and ultimately triggering NF-kappa-B-dependent proinflammatory response (PubMed:20179272).
GENATLAS Biochemistry:
natural killer cell immunoglobulin-like inhibitory receptor for HLA-C antigens,2DL4,with several alternatively spliced (truncated) forms

Phenotypes From GWAS Catalog for KIR2DL4 Gene

Gene Ontology (GO) - Molecular Function for KIR2DL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 8946682
GO:0005515 protein binding IPI 16366734
GO:0032394 MHC class Ib receptor activity IDA 10190900
genes like me logo Genes that share ontologies with KIR2DL4: view
genes like me logo Genes that share phenotypes with KIR2DL4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIR2DL4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KIR2DL4 Gene

Localization for KIR2DL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR2DL4 Gene

Cell membrane. Single-pass type I membrane protein. Early endosome membrane.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIR2DL4 gene
Compartment Confidence
endosome 5
plasma membrane 4
extracellular 2
nucleus 2
lysosome 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
cytosol 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KIR2DL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005768 endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 8946682
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIR2DL4: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIR2DL4 Gene

Pathways & Interactions for KIR2DL4 Gene

genes like me logo Genes that share pathways with KIR2DL4: view

Pathways by source for KIR2DL4 Gene

1 GeneGo (Thomson Reuters) pathway for KIR2DL4 Gene
  • Immune response Role of DAP12 receptors in NK cells

SIGNOR curated interactions for KIR2DL4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KIR2DL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002729 positive regulation of natural killer cell cytokine production IDA 16366734
GO:0006968 cellular defense response TAS 8946682
GO:0007165 signal transduction TAS 8946682
GO:0045953 negative regulation of natural killer cell mediated cytotoxicity IDA 10190900
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with KIR2DL4: view

Drugs & Compounds for KIR2DL4 Gene

(1) Drugs for KIR2DL4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with KIR2DL4: view

Transcripts for KIR2DL4 Gene

mRNA/cDNA for KIR2DL4 Gene

4 REFSEQ mRNAs :
56 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIR2DL4

Alternative Splicing Database (ASD) splice patterns (SP) for KIR2DL4 Gene

No ASD Table

Relevant External Links for KIR2DL4 Gene

GeneLoc Exon Structure for
KIR2DL4

Expression for KIR2DL4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIR2DL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIR2DL4 Gene

This gene is overexpressed in Whole Blood (x31.6) and Spleen (x9.3).

Protein differential expression in normal tissues from HIPED for KIR2DL4 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KIR2DL4 Gene



Protein tissue co-expression partners for KIR2DL4 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIR2DL4

SOURCE GeneReport for Unigene cluster for KIR2DL4 Gene:

Hs.661219

mRNA Expression by UniProt/SwissProt for KIR2DL4 Gene:

Q99706-KI2L4_HUMAN
Tissue specificity: Expressed in decidual NK cells and innate lymphoid cell type I (ILC1) (PubMed:29262349). Expressed in a subset of peripheral NK cells (PubMed:19304799).

Evidence on tissue expression from TISSUES for KIR2DL4 Gene

  • Blood(2.8)
  • Spleen(2.3)
  • Lymph node(2.1)
genes like me logo Genes that share expression patterns with KIR2DL4: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KIR2DL4 Gene

Orthologs for KIR2DL4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIR2DL4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KIR2DL4 30 31
  • 97.35 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KIR2DL5A 30
  • 71.6 (n)
-- 31
  • 28 (a)
ManyToMany
Mouse
(Mus musculus)
Mammalia Kir3dl1 31
  • 32 (a)
ManyToMany
Kir3dl2 31
  • 30 (a)
ManyToMany
Dog
(Canis familiaris)
Mammalia -- 31
  • 19 (a)
OneToMany
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 14 (a)
ManyToMany
-- 31
  • 11 (a)
ManyToMany
Oppossum
(Monodelphis domestica)
Mammalia -- 31
  • 10 (a)
OneToMany
Lizard
(Anolis carolinensis)
Reptilia -- 31
  • 11 (a)
OneToMany
Species where no ortholog for KIR2DL4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for KIR2DL4 Gene

ENSEMBL:
Gene Tree for KIR2DL4 (if available)
TreeFam:
Gene Tree for KIR2DL4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KIR2DL4: view image

Paralogs for KIR2DL4 Gene

(52) SIMAP similar genes for KIR2DL4 Gene using alignment to 31 proteins:

  • KI2L4_HUMAN
  • A3R3E3_HUMAN
  • A7YL15_HUMAN
  • A8MT18_HUMAN
  • A8W793_HUMAN
  • A8W794_HUMAN
  • E0X065_HUMAN
  • E0X067_HUMAN
  • E0X068_HUMAN
  • E0X069_HUMAN
  • E7EST5_HUMAN
  • K7QUS9_HUMAN
  • K7QUT1_HUMAN
  • K7RE46_HUMAN
  • Q32WD9_HUMAN
  • Q32WE0_HUMAN
  • Q32WE1_HUMAN
  • Q32WE2_HUMAN
  • Q5IH82_HUMAN
  • Q5IH87_HUMAN
  • Q5IHW5_HUMAN
  • Q5IHW6_HUMAN
  • Q5IHW9_HUMAN
  • Q86U48_HUMAN
  • Q86VF1_HUMAN
  • Q86WL6_HUMAN
  • Q86WL7_HUMAN
  • Q8N736_HUMAN
  • Q96L47_HUMAN
  • Q96L48_HUMAN
  • Q96L49_HUMAN
genes like me logo Genes that share paralogs with KIR2DL4: view

Variants for KIR2DL4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIR2DL4 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
rs1051454 - p.Ala138Thr
rs1051456 - p.Pro209Ala
rs1185997484 - p.Asn371His
rs618835 - p.Tyr53Cys
rs773420112 - p.Val87Leu

Additional dbSNP identifiers (rs#s) for KIR2DL4 Gene

Structural Variations from Database of Genomic Variants (DGV) for KIR2DL4 Gene

Variant ID Type Subtype PubMed ID
dgv1078e212 CNV gain 25503493
dgv1080e212 CNV loss 25503493
dgv1081e212 CNV loss 25503493
dgv1082e212 CNV loss 25503493
dgv1083e212 CNV loss 25503493
dgv1084e212 CNV loss 25503493
dgv1085e212 CNV loss 25503493
dgv144e55 CNV gain 17911159
dgv145e55 CNV loss 17911159
dgv149n111 CNV deletion 26073780
dgv1818n106 CNV deletion 24896259
dgv3666n100 CNV gain 25217958
dgv3667n100 CNV gain 25217958
dgv3668n100 CNV loss 25217958
dgv3669n100 CNV gain 25217958
dgv3670n100 CNV loss 25217958
dgv3671n100 CNV gain+loss 25217958
dgv3672n100 CNV gain+loss 25217958
dgv3673n100 CNV loss 25217958
dgv3674n100 CNV gain+loss 25217958
dgv3675n100 CNV gain+loss 25217958
dgv3676n100 CNV loss 25217958
dgv436n27 CNV gain 19166990
dgv437n27 CNV loss 19166990
dgv438n27 CNV gain 19166990
dgv439n27 CNV loss 19166990
dgv534e201 CNV deletion 23290073
dgv536e201 CNV deletion 23290073
dgv6564n54 CNV gain 21841781
dgv6579n54 CNV loss 21841781
dgv6580n54 CNV gain 21841781
dgv6581n54 CNV gain+loss 21841781
dgv667e199 CNV deletion 23128226
dgv668e199 CNV deletion 23128226
dgv672e214 CNV loss 21293372
dgv76e203 CNV gain+loss 21179565
esv2421952 CNV deletion 20811451
esv2661467 CNV deletion 23128226
esv26630 CNV gain+loss 19812545
esv2667609 CNV deletion 23128226
esv2718872 CNV deletion 23290073
esv2718928 CNV deletion 23290073
esv2718930 CNV deletion 23290073
esv2758771 CNV gain+loss 17122850
esv32828 CNV loss 17666407
esv3574997 CNV gain 25503493
esv3583566 CNV loss 25503493
esv3583567 CNV loss 25503493
esv3893249 CNV loss 25118596
nsv1060113 CNV gain 25217958
nsv1071948 CNV deletion 25765185
nsv1130918 CNV deletion 24896259
nsv1153981 CNV deletion 26484159
nsv1160665 CNV deletion 26073780
nsv1160668 CNV deletion 26073780
nsv428372 CNV gain+loss 18775914
nsv437834 CNV loss 16327808
nsv442774 CNV gain+loss 18776908
nsv458810 CNV loss 19166990
nsv469656 CNV loss 16826518
nsv470160 CNV loss 18288195
nsv470161 CNV gain 18288195
nsv471706 CNV loss 15918152
nsv514902 CNV gain 21397061
nsv517143 CNV gain+loss 19592680
nsv580245 CNV loss 21841781
nsv580246 CNV gain 21841781
nsv580320 CNV loss 21841781
nsv580326 CNV gain+loss 21841781
nsv580327 CNV loss 21841781
nsv580328 CNV gain+loss 21841781
nsv580329 CNV loss 21841781
nsv580336 CNV gain 21841781
nsv580337 CNV loss 21841781
nsv817872 CNV gain+loss 17921354
nsv833879 CNV gain+loss 17160897
nsv9761 CNV gain+loss 18304495
nsv978853 CNV duplication 23825009

Variation tolerance for KIR2DL4 Gene

Gene Damage Index Score: 1.53; 29.66% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIR2DL4 Gene

Human Gene Mutation Database (HGMD)
KIR2DL4
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIR2DL4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIR2DL4 Gene

Disorders for KIR2DL4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KIR2DL4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
partial duplication of chromosome 19
  • partial trisomy of chromosome 19
acute diarrhea
eunuchism
duane retraction syndrome
  • drs
intussusception
  • intussusception of intestine
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIR2DL4

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KIR2DL4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIR2DL4 Gene

Publications for KIR2DL4 Gene

  1. NK cell receptor gene of the KIR family with two IG domains but highest homology to KIR receptors with three IG domains. (PMID: 8946682) Selvakumar A … Dupont B (Tissue antigens 1996) 2 3 4 23
  2. DNA-PKcs controls an endosomal signaling pathway for a proinflammatory response by natural killer cells. (PMID: 20179272) Rajagopalan S … Long EO (Science signaling 2010) 3 4 23
  3. Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis. (PMID: 19630074) Lorentzen AR … Harbo HF (Annals of neurology 2009) 3 23 41
  4. Killer cell immunoglobulin-like receptor allele discrimination by high-resolution melting. (PMID: 19589363) Gonzalez A … Middleton D (Human immunology 2009) 3 23 41
  5. Diversity of killer cell immunoglobulin-like receptor genes in Indonesian populations of Java, Kalimantan, Timor and Irian Jaya. (PMID: 19000141) Velickovic M … Dunckley H (Tissue antigens 2009) 3 23 41

Products for KIR2DL4 Gene

  • Biorbyt antibodies for KIR2DL4
  • Signalway Proteins for KIR2DL4

Sources for KIR2DL4 Gene