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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 5
  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short Cytoplasmic Tail, 4 2 3
  • 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
  • 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 2DS4 3
  • P50 Killer Cell Activating Receptor KAR-K1d 3
  • Killer Inhibitory Receptor 4-1-2 3
  • MHC Class I NK Cell Receptor 4
  • KIR Antigen 2DS4 3
  • CD158i Antigen 4
  • KIR-2DS4 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
  • GC19P054916
  • GC19P054935
  • GC19P054955
  • GC19P054978
  • GC19P054996
  • GC19P055024

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 Waardenburg's Syndrome. Among its related pathways are Innate Immune System and Immune response Role of DAP12 receptors in NK cells. An important paralog of this gene is KIR2DL3.

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

Additional gene information for KIR2DS4 Gene

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

Genomics for KIR2DS4 Gene

GeneHancer (GH) Regulatory Elements for KIR2DS4 Gene

Promoters and enhancers for KIR2DS4 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J054873 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 20.6 +43.5 43508 5.2 GATA3 ZNF157 POLR2A SPI1 FCAR LILRA2 KIR2DS4 LILRA1 NLRP2 NLRP7 ENSG00000243494 KIR2DL3 EPS8L1 RDH13
GH19J055544 Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 5.1 +715.3 715306 6.2 FOXA2 ARID4B SIN3A ZNF143 FOS SP5 REST SMARCB1 ZNF592 KAT8 SBK3 SBK2 LOC646709 KIR2DS4 SSC5D ZNF471 GC19P055562
GH19J054893 Enhancer 0.5 ENCODE 11.9 +61.1 61112 1.3 SP1 USF1 NANOG TCF7L2 KIR2DS4 EPS8L1 RDH13 NCR1 KIR3DL2 ENSG00000268734 PIR47082
GH19J055275 Enhancer 1 FANTOM5 Ensembl ENCODE 3.7 +444.1 444140 2.2 SRF POLR2A ZNF189 CEBPB DPF2 ZNF623 RUNX3 SPI1 HSPBP1 KIR3DL2 KIR2DS4 ZNF628 NCR1 EPN1 PPP6R1 KMT5C KIR3DL1 GC19M055263
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIR2DS4 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIR2DS4 gene promoter:
  • p53
  • YY1
  • CUTL1
  • deltaCREB
  • CREB
  • STAT5A

Genomic Locations for KIR2DS4 Gene

Genomic Locations for KIR2DS4 Gene
15,894 bases
Plus strand
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

Post-translational modifications for KIR2DS4 Gene

  • Glycosylation at isoforms=211, isoforms=178, Asn144, Asn84, and Asn67

Other Protein References for KIR2DS4 Gene

Antibody Products

  • R&D Systems Antibodies for KIR2DS4 (KIR2DS4/CD158i)
  • Abcam antibodies for KIR2DS4
  • Boster Bio Antibodies for KIR2DS4

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



  • Belongs to the immunoglobulin superfamily.
  • 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

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

Gene Ontology (GO) - Molecular Function for KIR2DS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24018270
genes like me logo Genes that share ontologies with KIR2DS4: view
genes like me logo Genes that share phenotypes with KIR2DS4: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIR2DS4

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , 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 --
GO:0005887 integral component of plasma membrane TAS 7749980
genes like me logo Genes that share ontologies with KIR2DS4: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) 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

Gene Ontology (GO) - Biological Process for KIR2DS4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with KIR2DS4: view

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:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIR2DS4

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 from GTEx, Illumina, BioGPS, and CGAP SAGE for KIR2DS4 Gene

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

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

NURSA nuclear receptor signaling pathways regulating expression of KIR2DS4 Gene:


SOURCE GeneReport for Unigene cluster for KIR2DS4 Gene:

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

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Canis familiaris)
Mammalia -- 34
  • 25 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 24 (a)
(Mus musculus)
Mammalia Kir3dl2 34
  • 22 (a)
Kir3dl1 34
  • 21 (a)
(Bos Taurus)
Mammalia -- 34
  • 16 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 10 (a)
-- 34
  • 9 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 10 (a)
Species where no ortholog for KIR2DS4 was found in the sources mined by GeneCards:
  • 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)
Evolutionary constrained regions (ECRs) for KIR2DS4: view image

Paralogs for KIR2DS4 Gene

(57) SIMAP similar genes for KIR2DS4 Gene using alignment to 16 proteins:

  • A1A4E0_HUMAN
  • K7QX36_HUMAN
  • Q32MZ0_HUMAN
  • Q32WD7_HUMAN
  • Q4KN55_HUMAN
  • Q6H2G6_HUMAN
  • Q8NHJ0_HUMAN Pseudogenes 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 Variation AA Info Type
rs1000973765 -- 54,847,209(+) G/A synonymous_variant, terminator_codon_variant
rs1001479341 -- 54,847,003(+) G/A intron_variant
rs1001576466 -- 54,841,191(+) T/C intron_variant
rs1002510093 -- 54,831,661(+) T/C upstream_transcript_variant
rs1002710694 -- 54,837,307(+) A/T intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KIR2DS4 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
dgv1085e212 CNV loss 25503493
dgv1086e212 CNV loss 25503493
dgv144e55 CNV gain 17911159
dgv145e55 CNV loss 17911159
dgv16e196 CNV duplication 17116639
dgv3666n100 CNV gain 25217958
dgv3667n100 CNV gain 25217958
dgv3668n100 CNV loss 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
dgv3677n100 CNV loss 25217958
dgv3678n100 CNV loss 25217958
dgv438n27 CNV gain 19166990
dgv534e201 CNV deletion 23290073
dgv535e201 CNV deletion 23290073
dgv536e201 CNV deletion 23290073
dgv6564n54 CNV gain 21841781
dgv6580n54 CNV gain 21841781
dgv6581n54 CNV gain+loss 21841781
dgv667e199 CNV deletion 23128226
dgv672e214 CNV loss 21293372
dgv76e203 CNV gain+loss 21179565
esv2421952 CNV deletion 20811451
esv2477686 CNV loss 19546169
esv2661467 CNV deletion 23128226
esv26630 CNV gain+loss 19812545
esv2665895 CNV deletion 23128226
esv2667609 CNV deletion 23128226
esv2668465 CNV deletion 23128226
esv2668549 CNV deletion 23128226
esv2718872 CNV deletion 23290073
esv2718928 CNV deletion 23290073
esv2718931 CNV deletion 23290073
esv2718932 CNV deletion 23290073
esv2758771 CNV gain+loss 17122850
esv32688 CNV loss 17666407
esv32828 CNV loss 17666407
esv3363871 CNV duplication 20981092
esv3556634 CNV deletion 23714750
esv3574997 CNV gain 25503493
esv3583537 CNV loss 25503493
esv3583566 CNV loss 25503493
esv3583567 CNV loss 25503493
esv3583569 CNV loss 25503493
esv3644818 CNV loss 21293372
esv3644819 CNV gain 21293372
esv7080 CNV loss 19470904
nsv1060113 CNV gain 25217958
nsv1071948 CNV deletion 25765185
nsv1072365 CNV deletion 25765185
nsv1126532 CNV deletion 24896259
nsv1128785 CNV duplication 24896259
nsv1133455 CNV deletion 24896259
nsv1135854 CNV deletion 24896259
nsv1136289 CNV deletion 24896259
nsv1160665 CNV deletion 26073780
nsv1160669 CNV deletion 26073780
nsv138073 CNV deletion 16902084
nsv428372 CNV gain+loss 18775914
nsv437834 CNV loss 16327808
nsv458810 CNV loss 19166990
nsv469656 CNV loss 16826518
nsv471417 CNV gain 19718026
nsv471706 CNV loss 15918152
nsv514902 CNV gain 21397061
nsv517143 CNV gain+loss 19592680
nsv580245 CNV loss 21841781
nsv580246 CNV gain 21841781
nsv580326 CNV gain+loss 21841781
nsv580329 CNV loss 21841781
nsv580336 CNV gain 21841781
nsv833879 CNV gain+loss 17160897
nsv953620 CNV deletion 24416366
nsv953621 CNV deletion 24416366
nsv953622 CNV duplication 24416366
nsv9761 CNV gain+loss 18304495
nsv9762 CNV gain 18304495
nsv9763 CNV loss 18304495
nsv9764 CNV gain 18304495
nsv978852 CNV duplication 23825009
nsv978853 CNV duplication 23825009

Additional Variant Information for KIR2DS4 Gene

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

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

Disorders for KIR2DS4 Gene

MalaCards: The human disease database

(6) MalaCards diseases for KIR2DS4 Gene - From: HGMD, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
craniofacial-deafness-hand syndrome
  • cdhs
waardenburg's syndrome
  • waardenburg syndrome, type 4a
aniridia 1
  • an1
birdshot chorioretinopathy
  • bscr
  • syphilitic chancre
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIR2DS4

Genetic Association Database
Human Genome Epidemiology 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. Distribution of killer cell immunoglobulin-like receptor genes and 2DS4 alleles in the Chinese Han population. (PMID: 20034528) Bao X … He J (Human immunology 2010) 3 22 44 58
  2. Killer cell immunoglobulin-like receptor allele discrimination by high-resolution melting. (PMID: 19589363) Gonzalez A … Middleton D (Human immunology 2009) 3 22 44 58
  3. 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 22 44 58
  4. 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 (European journal of immunology 1996) 2 3 4 58
  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 EO (Immunity 1995) 2 3 4 58

Products for KIR2DS4 Gene

Sources for KIR2DS4 Gene

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