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Aliases for KIR2DL4 Gene

Aliases for KIR2DL4 Gene

  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic Tail, 4 2 3
  • KIR103AS 3 4 6
  • 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
  • CD158D 3 4
  • G9P 3 4
  • Killer Cell Immunoglobulin-Like Receptor 2DL4 3
  • Natural Killer Cell Inhibitory Receptor 3
  • Killer Ig Receptor 3
  • NK Cell Receptor 3
  • CD158d Antigen 4
  • KIR103 3

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

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for KIR2DL4 Gene

KIR2DL4 (Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic Tail, 4) is a Protein Coding gene. Diseases associated with KIR2DL4 include recurrent respiratory papillomatosis and leptospirosis. Among its related pathways are Class I MHC mediated antigen processing and presentation and Immune response Role of DAP12 receptors in NK cells. GO annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is KIR2DL3.

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

Gene Wiki entry for KIR2DL4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIR2DL4 Gene

Genomics for KIR2DL4 Gene

Regulatory Elements for KIR2DL4 Gene

Genomic Location for KIR2DL4 Gene

54,803,535 bp from pter
54,814,517 bp from pter
10,983 bases
Plus strand

Genomic View for KIR2DL4 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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:
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DL4
    Protein Accession:
    Secondary Accessions:
    • A8W795
    • O14621
    • O14622
    • O14623
    • O14624
    • O43534
    • P78400
    • P78401
    • Q8N738
    • Q99559
    • Q99560
    • Q99561
    • Q99562
    • Q9UQJ7

    Protein attributes for KIR2DL4 Gene

    377 amino acids
    Molecular mass:
    41487 Da
    Quaternary structure:
    • Interacts with ARRB2.

    Alternative splice isoforms for KIR2DL4 Gene

neXtProt entry for KIR2DL4 Gene

Proteomics data for KIR2DL4 Gene at MOPED

Post-translational modifications for KIR2DL4 Gene

  • Glycosylation at Asn141 and Asn175
  • Modification sites at PhosphoSitePlus

Other Protein References for KIR2DL4 Gene

No data available for DME Specific Peptides for KIR2DL4 Gene

Domains for KIR2DL4 Gene

Gene Families for KIR2DL4 Gene

  • CD :CD molecules
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
  • KIR :Killer cell immunoglobulin-like receptors

Protein Domains for KIR2DL4 Gene


Suggested Antigen Peptide Sequences for KIR2DL4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Q99706
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
  • 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

GENATLAS Biochemistry: natural killer cell immunoglobulin-like inhibitory receptor for HLA-C antigens,2DL4,with several alternatively spliced (truncated) forms
UniProtKB/Swiss-Prot Function: Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis

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 18604210
genes like me logo Genes that share ontologies with KIR2DL4: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting 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.

Subcellular locations from

Jensen Localization Image for KIR2DL4 Gene COMPARTMENTS Subcellular localization image for KIR2DL4 gene
Compartment Confidence
plasma membrane 5
extracellular 3
lysosome 1

Gene Ontology (GO) - Cellular Components for KIR2DL4 Gene

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

Pathways for KIR2DL4 Gene

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

Pathways by source for KIR2DL4 Gene

Gene Ontology (GO) - Biological Process for KIR2DL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006968 cellular defense response TAS 8946682
GO:0007165 signal transduction TAS 8946682
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with KIR2DL4: view

Compounds for KIR2DL4 Gene

(1) Novoseek inferred chemical compound relationships for KIR2DL4 Gene

Compound -log(P) Hits PubMed IDs
arginine 11.5 1
genes like me logo Genes that share compounds with KIR2DL4: view

Transcripts for KIR2DL4 Gene

Unigene Clusters for KIR2DL4 Gene

Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4:
Representative Sequences:

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

No ASD Table

Relevant External Links for KIR2DL4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIR2DL4 Gene

mRNA expression in normal human tissues 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 (31.6) and Spleen (9.3).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for KIR2DL4 Gene

SOURCE GeneReport for Unigene cluster for KIR2DL4 Gene Hs.661219

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

No data available for mRNA Expression by UniProt/SwissProt 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
(Pan troglodytes)
Mammalia KIR2DL4 35
  • 97.35 (n)
  • 95.49 (a)
KIR2DL4 36
  • 87 (a)
(Bos Taurus)
Mammalia -- 36
  • 28 (a)
  • 71.6 (n)
  • 55.59 (a)
(Canis familiaris)
Mammalia -- 36
  • 19 (a)
(Mus musculus)
Mammalia Kir3dl1 36
  • 32 (a)
Kir3dl2 36
  • 30 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 10 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 14 (a)
-- 36
  • 11 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 11 (a)
Species with no ortholog for KIR2DL4:
  • A. gosspyii yeast (Ashbya 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 squirt (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

Gene Tree for KIR2DL4 (if available)
Gene Tree for KIR2DL4 (if available)

Paralogs for KIR2DL4 Gene

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

Variants for KIR2DL4 Gene

Sequence variations from dbSNP and Humsavar for KIR2DL4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
VAR_010307 -
VAR_010308 -
VAR_010309 -
VAR_010310 -
VAR_010311 -

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

Variant ID Type Subtype PubMed ID
dgv1119e1 CNV Complex 17122850
esv2667609 CNV Deletion 23128226
esv2718872 CNV Deletion 23290073
dgv1126e1 CNV Complex 17122850
nsv428372 CNV Gain+Loss 18775914
nsv833879 CNV Gain+Loss 17160897
dgv1127e1 CNV Complex 17122850
dgv1128e1 CNV Complex 17122850
nsv469656 CNV Gain 16826518
nsv471706 CNV Loss 15918152
nsv437834 CNV Loss 16327808
dgv667e199 CNV Deletion 23128226
nsv517143 CNV Gain+Loss 19592680
dgv4007n71 CNV Gain+Loss 21882294
dgv4008n71 CNV Gain 21882294
dgv575e201 CNV Deletion 23290073
esv26630 CNV Gain+Loss 19812545
nsv9761 CNV Gain+Loss 18304495
dgv577e201 CNV Deletion 23290073
esv32828 CNV Loss 17666407
dgv1129e1 CNV Complex 17122850
dgv144e55 CNV Gain 17911159
nsv912427 CNV Loss 21882294
dgv145e55 CNV Loss 17911159
essv14850 CNV CNV 17122850
esv2421952 CNV Deletion 20811451
dgv4009n71 CNV Loss 21882294
dgv4010n71 CNV Gain 21882294
nsv514902 CNV Complex 21397061
essv15906 CNV CNV 17122850
dgv1130e1 CNV Complex 17122850
dgv668e199 CNV Deletion 23128226
esv2661467 CNV Deletion 23128226
esv2718928 CNV Deletion 23290073
dgv4011n71 CNV Loss 21882294
dgv4012n71 CNV Gain 21882294
nsv442774 CNV CNV 18776908
essv9282 CNV CNV 17122850
dgv4013n71 CNV Gain 21882294
nsv470160 CNV Loss 18288195
nsv470161 CNV Gain 18288195
dgv436n27 CNV Gain 19166990
dgv437n27 CNV Loss 19166990
nsv817872 CNV Gain+Loss 17921354
nsv458810 CNV Loss 19166990
dgv438n27 CNV Gain 19166990
nsv912441 CNV Gain+Loss 21882294
nsv912443 CNV Loss 21882294
dgv439n27 CNV Loss 19166990
esv2718930 CNV Deletion 23290073

Relevant External Links for KIR2DL4 Gene

HapMap Linkage Disequilibrium report
Human Gene Mutation Database (HGMD)
Locus Specific Mutation Databases (LSDB)

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

Disorders for KIR2DL4 Gene

(1) Novoseek inferred disease relationships for KIR2DL4 Gene

Disease -log(P) Hits PubMed IDs
tumors 0 1

Relevant External Links for KIR2DL4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
genes like me logo Genes that share disorders with KIR2DL4: view

No data available for UniProtKB/Swiss-Prot 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. Genomic organization and allelic polymorphism of the human killer cell inhibitory receptor gene KIR103. (PMID: 9234477) Selvakumar A. … Dupont B. (Tissue Antigens 1997) 3 4 23
  3. KIR haplotype content at the allele level in 77 Northern Irish families. (PMID: 17200871) Middleton D. … Gourraud P.A. (Immunogenetics 2007) 3 23 48
  4. Polymorphisms of killer cell immunoglobulin-like receptor gene: possible association with susceptibility to or clearance of hepatitis B virus infection in Chinese Han population. (PMID: 18074414) Zhi-ming L. … Yue-ran Z. (Croat. Med. J. 2007) 3 23 48
  5. The elucidation of KIR2DL4 gene polymorphism. (PMID: 18082267) Schellekens J. … Rozemuller E.H. (Mol. Immunol. 2008) 3 4 23

Products for KIR2DL4 Gene

Sources for KIR2DL4 Gene

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