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Aliases for KIR2DS4 Gene

Aliases for KIR2DS4 Gene

  • Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 4 2 3
  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short Cytoplasmic Tail, 4 2 3 5
  • P58 Natural Killer Cell Receptor Clones CL-39/CL-17 3 4
  • Natural Killer-Associated Transcript 8 3 4
  • CD158 Antigen-Like Family Member I 3 4
  • MHC Class I NK Cell Receptor 3 4
  • P58 NK Receptor CL-39/CL-17 3 4
  • CD158I 3 4
  • NKAT-8 3 4
  • NKAT8 3 4
  • KKA3 3 4
  • Killer Cell Immunoglobulin-Like Receptor Two Domains Short Cytoplasmic Tail 1 3
  • P50 Killer Cell Activating Receptor KAR-K1d 3
  • Killer-Cell Immunoglobulin-Like Receptor 3
  • Natural Killer Cell Inhibitory Receptor 3
  • Killer Inhibitory Receptor 4-1-2 3
  • Killer Ig Receptor 3
  • KIR Antigen 2DS4 3
  • CD158i Antigen 4
  • KIR-2DS4 3
  • KIR2DS1 3
  • KIR412 3
  • KIR1D 3

External Ids for KIR2DS4 Gene

Previous GeneCards Identifiers for KIR2DS4 Gene

  • GC19U990055
  • GC19P055663
  • GC19P060004
  • GC19P060035
  • GC19P059931
  • GC19P055344
  • GC19P051666
  • GC19P054888
  • GC19P054899

Summaries for KIR2DS4 Gene

Entrez Gene Summary for KIR2DS4 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. [provided by RefSeq, Jul 2008]

GeneCards Summary for KIR2DS4 Gene

KIR2DS4 (Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 4) is a Protein Coding gene. Diseases associated with KIR2DS4 include Craniofacial-Deafness-Hand Syndrome and Aniridia. Among its related pathways are Natural Killer Cell Receptors: Human Target Cell ?�� NK Cell Ligand-Receptor Interactions and Immune System. An important paralog of this gene is KIR2DL4.

UniProtKB/Swiss-Prot for KIR2DS4 Gene

  • Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.

Gene Wiki entry for KIR2DS4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIR2DS4 Gene

Genomics for KIR2DS4 Gene

Regulatory Elements for KIR2DS4 Gene

Enhancers for KIR2DS4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KIR2DS4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIR2DS4 Gene

54,832,676 bp from pter
54,848,569 bp from pter
15,894 bases
Plus strand

Genomic View for KIR2DS4 Gene

Genes around KIR2DS4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIR2DS4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIR2DS4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for KIR2DS4 Gene

  • Protein details for KIR2DS4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DS4
    Protein Accession:
    Secondary Accessions:
    • Q6H2G7

    Protein attributes for KIR2DS4 Gene

    304 amino acids
    Molecular mass:
    33583 Da
    Quaternary structure:
    No Data Available
    • Sequence=AAC50336.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIR2DS4 Gene

neXtProt entry for KIR2DS4 Gene

Proteomics data for KIR2DS4 Gene at MOPED

Post-translational modifications for KIR2DS4 Gene

  • Glycosylation at Asn 67, Asn 84, Asn 144, Asn 178, and Asn 211

Other Protein References for KIR2DS4 Gene

Antibody Products

  • R&D Systems Antibodies for KIR2DS4 (KIR2DS4/CD158i)

No data available for DME Specific Peptides for KIR2DS4 Gene

Domains & Families for KIR2DS4 Gene

Protein Domains for KIR2DS4 Gene

Suggested Antigen Peptide Sequences for KIR2DS4 Gene

Graphical View of Domain Structure for InterPro Entry



  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
  • Belongs to the immunoglobulin superfamily.
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIR2DS4: view

Function for KIR2DS4 Gene

Molecular function for KIR2DS4 Gene

GENATLAS Biochemistry:
natural killer cell immunoglobulin-like activating receptor for HLA-C antigens,2DS4,with alternatively spliced (truncated) forms
UniProtKB/Swiss-Prot Function:
Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells.
genes like me logo Genes that share phenotypes with KIR2DS4: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KIR2DS4 Gene

Localization for KIR2DS4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR2DS4 Gene

Cell membrane; Single-pass type I membrane protein.

Gene Ontology (GO) - Cellular Components for KIR2DS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
genes like me logo Genes that share ontologies with KIR2DS4: view

No data available for Subcellular locations from COMPARTMENTS for KIR2DS4 Gene

Pathways & Interactions for KIR2DS4 Gene

genes like me logo Genes that share pathways with KIR2DS4: view

Pathways by source for KIR2DS4 Gene

Interacting Proteins for KIR2DS4 Gene

Selected Interacting proteins: P43632-KI2S4_HUMAN for KIR2DS4 Gene via I2D

Symbol External ID(s) Details

Gene Ontology (GO) - Biological Process for KIR2DS4 Gene


No data available for SIGNOR curated interactions for KIR2DS4 Gene

Drugs & Compounds for KIR2DS4 Gene

(2) Drugs for KIR2DS4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for KIR2DS4 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KIR2DS4: view

Transcripts for KIR2DS4 Gene

mRNA/cDNA for KIR2DS4 Gene

(3) REFSEQ mRNAs :
(20) Additional mRNA sequences :
(3) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KIR2DS4 Gene

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

Alternative Splicing Database (ASD) splice patterns (SP) for KIR2DS4 Gene

No ASD Table

Relevant External Links for KIR2DS4 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIR2DS4 Gene

mRNA expression in normal human tissues for KIR2DS4 Gene

mRNA differential expression in normal tissues according to GTEx for KIR2DS4 Gene

This gene is overexpressed in Whole Blood (x44.5).

SOURCE GeneReport for Unigene cluster for KIR2DS4 Gene Hs.654608

genes like me logo Genes that share expression patterns with KIR2DS4: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners for KIR2DS4 Gene

Orthologs for KIR2DS4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIR2DS4 Gene

Organism Taxonomy Gene Similarity Type Details
(Bos Taurus)
Mammalia -- 36
  • 16 (a)
(Canis familiaris)
Mammalia -- 36
  • 25 (a)
(Monodelphis domestica)
Mammalia -- 36
  • 24 (a)
(Mus musculus)
Mammalia Kir3dl1 36
  • 21 (a)
Kir3dl2 36
  • 22 (a)
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 10 (a)
-- 36
  • 9 (a)
(Anolis carolinensis)
Reptilia -- 36
  • 10 (a)
Species with no ortholog for KIR2DS4:
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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 KIR2DS4 Gene

Gene Tree for KIR2DS4 (if available)
Gene Tree for KIR2DS4 (if available)

Paralogs for KIR2DS4 Gene

genes like me logo Genes that share paralogs with KIR2DS4: view

Variants for KIR2DS4 Gene

Sequence variations from dbSNP and Humsavar for KIR2DS4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_049980 -
VAR_049981 -
VAR_049982 -
VAR_049983 -
VAR_049984 -

Structural Variations from Database of Genomic Variants (DGV) for KIR2DS4 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
esv26630 CNV Gain+Loss 19812545
dgv577e201 CNV Deletion 23290073
esv32828 CNV Loss 17666407
dgv1129e1 CNV Complex 17122850
dgv144e55 CNV Gain 17911159
nsv912427 CNV Loss 21882294
dgv145e55 CNV Loss 17911159
esv2421952 CNV Deletion 20811451
dgv4009n71 CNV Loss 21882294
dgv4010n71 CNV Gain 21882294
nsv514902 CNV Complex 21397061
dgv1130e1 CNV Complex 17122850
esv2661467 CNV Deletion 23128226
dgv4011n71 CNV Loss 21882294
dgv4012n71 CNV Gain 21882294
dgv4013n71 CNV Gain 21882294
nsv458810 CNV Loss 19166990
dgv438n27 CNV Gain 19166990
nsv912441 CNV Gain+Loss 21882294
nsv912443 CNV Loss 21882294
esv2718931 CNV Deletion 23290073
nsv9762 CNV Gain 18304495
esv7080 CNV Loss 19470904
esv2477686 CNV Loss 19546169
nsv471417 CNV Duplication 19718026
nsv138073 CNV Loss 16902084
esv2668549 CNV Deletion 23128226
esv2665895 CNV Deletion 23128226
nsv9763 CNV Loss 18304495
nsv9764 CNV Gain 18304495
esv32688 CNV Loss 17666407
esv2718932 CNV Deletion 23290073

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot , Variation tolerance and Relevant External Links for KIR2DS4 Gene

Disorders for KIR2DS4 Gene

MalaCards: The human disease database

(3) MalaCards diseases for KIR2DS4 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
craniofacial-deafness-hand syndrome
  • craniofacial deafness hand syndrome
  • cataract with late-onset corneal dystrophy
birdshot chorioretinopathy
  • birdshot chorioretinitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIR2DS4

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with KIR2DS4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIR2DS4 Gene

Publications for KIR2DS4 Gene

  1. A novel surface molecule homologous to the p58/p50 family of receptors is selectively expressed on a subset of human natural killer cells and induces both triggering of cell functions and proliferation. (PMID: 8765026) Bottino C. … Moretta A. (Eur. J. Immunol. 1996) 2 3 4 67
  2. Distribution of killer cell immunoglobulin-like receptor genes and 2DS4 alleles in the Chinese Han population. (PMID: 20034528) Bao X. … He J. (Hum. Immunol. 2010) 3 23
  3. Killer cell immunoglobulin-like receptor allele discrimination by high-resolution melting. (PMID: 19589363) Gonzalez A. … Middleton D. (Hum. Immunol. 2009) 3 23
  4. KIR3DL1/S1 genotypes and KIR2DS4 allelic variants in the AB KIR genotypes are associated with Plasmodium-positive individuals in malaria infection. (PMID: 19859704) Taniguchi M. … Kawabata M. (Immunogenetics 2009) 3 23
  5. Molecular clones of the p58 NK cell receptor reveal immunoglobulin- related molecules with diversity in both the extra- and intracellular domains. (PMID: 7749980) Wagtmann N. … Long E.O. (Immunity 1995) 2 3

Products for KIR2DS4 Gene

Sources for KIR2DS4 Gene