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 KIR2DS5 Gene

Aliases for KIR2DS5 Gene

  • Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 5 2 3
  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short Cytoplasmic Tail, 5 2 3
  • Killer Cell Immunoglobulin-Like Receptor 2DS5 3 4
  • Natural Killer-Associated Transcript 9 3 4
  • CD158 Antigen-Like Family Member G 3 4
  • CD158G 3 4
  • NKAT-9 3 4
  • NKAT9 3 4
  • Natural Killer Cell Inhibitory Receptor 3
  • MHC Class I NK Cell Receptor 4
  • Killer Ig Receptor 3
  • CD158g Antigen 4

External Ids for KIR2DS5 Gene

Previous GeneCards Identifiers for KIR2DS5 Gene

  • GC19U990056
  • GC19P9D0098
  • GC19P9F0100
  • GC00P9Q0099
  • GC19P9H0011
  • GC19P9H0091
  • GC19P059937
  • GC19P9I0098
  • GC19P9I0022
  • GC19P055236
  • GC19P9I0009
  • GC19P9Q0462
  • GC19Pn00737
  • GC19M8W0030
  • GC19MA00037

Summaries for KIR2DS5 Gene

Entrez Gene Summary for KIR2DS5 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 KIR2DS5 Gene

KIR2DS5 (Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 5) is a Protein Coding gene. Among its related pathways are Innate Immune System and RET signaling. Gene Ontology (GO) annotations related to this gene include HLA-C specific inhibitory MHC class I receptor activity.

UniProtKB/Swiss-Prot Summary for KIR2DS5 Gene

  • Activating natural killer (NK) receptor that recognizes C2 epitopes of HLA-C alleles. Bridging the innate and adaptive immune systems, NK cells express a number of cell surface receptors which either inhibit or stimulate their cytotoxicity (PubMed:28685972, PubMed:18624290, PubMed:18682925). Able to activate NK cells citotoxicity and cytokine production such as IFNG (PubMed:18624290, PubMed:24269691). Receptor functions are attenuated even lost in some alleles, such as KIR2DS5*002 reprensented in this entry (PubMed:28685972).

Additional gene information for KIR2DS5 Gene

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KIR2DS5 Gene

Genomics for KIR2DS5 Gene

Genomic Locations for KIR2DS5 Gene

Genomic Locations for KIR2DS5 Gene
chr19:30,266-44,854
(GRCh38/hg38)
Size:
14,589 bases
Orientation:
Minus strand

Genomic View for KIR2DS5 Gene

Genes around KIR2DS5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for KIR2DS5 Gene

No data available for GeneHancer (GH) Regulatory Elements for KIR2DS5 Gene

Proteins for KIR2DS5 Gene

  • Protein details for KIR2DS5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14953-KI2S5_HUMAN
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DS5
    Protein Accession:
    Q14953
    Secondary Accessions:
    • A0A0C4ZMZ1

    Protein attributes for KIR2DS5 Gene

    Size:
    304 amino acids
    Molecular mass:
    33698 Da
    Quaternary structure:
    • Interacts with TYROBP.

neXtProt entry for KIR2DS5 Gene

Post-translational modifications for KIR2DS5 Gene

  • N-glycosylated, glycosylation varies depending on the allele which alters cell surface expression levels.
  • Glycosylation at Asn67, Asn84, Asn178, and Asn223

Other Protein References for KIR2DS5 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for KIR2DS5 Gene

Domains & Families for KIR2DS5 Gene

Gene Families for KIR2DS5 Gene

Protein Domains for KIR2DS5 Gene

Blocks:
  • Immunoglobulin subtype
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for KIR2DS5 Gene

GenScript: Design optimal peptide antigens:
  • KIR2DS5 (B6CAV5_HUMAN)
  • KIR2DS5 (B7SEV7_HUMAN)
  • KIR2DS5 (B7SEV8_HUMAN)
  • KIR2DS5 (B7SEV9_HUMAN)
  • KIR2DS5 (E7D4Q1_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q14953

UniProtKB/Swiss-Prot:

KI2S5_HUMAN :
  • Belongs to the immunoglobulin superfamily.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIR2DS5: view

Function for KIR2DS5 Gene

Molecular function for KIR2DS5 Gene

UniProtKB/Swiss-Prot Function:
Activating natural killer (NK) receptor that recognizes C2 epitopes of HLA-C alleles. Bridging the innate and adaptive immune systems, NK cells express a number of cell surface receptors which either inhibit or stimulate their cytotoxicity (PubMed:28685972, PubMed:18624290, PubMed:18682925). Able to activate NK cells citotoxicity and cytokine production such as IFNG (PubMed:18624290, PubMed:24269691). Receptor functions are attenuated even lost in some alleles, such as KIR2DS5*002 reprensented in this entry (PubMed:28685972).
GENATLAS Biochemistry:
natural killer cell immunoglobulin-like activating receptor for HLA-C antigens,2DS5,with alternatively spliced (truncated) forms

Gene Ontology (GO) - Molecular Function for KIR2DS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18624290
GO:0030110 HLA-C specific inhibitory MHC class I receptor activity NAS 8662091
genes like me logo Genes that share ontologies with KIR2DS5: view
genes like me logo Genes that share phenotypes with KIR2DS5: view

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KIR2DS5 Gene

Localization for KIR2DS5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR2DS5 Gene

Cell membrane; Single-pass type I membrane protein; Extracellular side.

Gene Ontology (GO) - Cellular Components for KIR2DS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane NAS 8662091
GO:0016021 integral component of membrane IDA 18624290
genes like me logo Genes that share ontologies with KIR2DS5: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for KIR2DS5 Gene

Pathways & Interactions for KIR2DS5 Gene

genes like me logo Genes that share pathways with KIR2DS5: view

Pathways by source for KIR2DS5 Gene

Gene Ontology (GO) - Biological Process for KIR2DS5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 8662091
GO:0045087 innate immune response TAS --
genes like me logo Genes that share ontologies with KIR2DS5: view

No data available for SIGNOR curated interactions for KIR2DS5 Gene

Drugs & Compounds for KIR2DS5 Gene

No Compound Related Data Available

Transcripts for KIR2DS5 Gene

mRNA/cDNA for KIR2DS5 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIR2DS5 Gene

No ASD Table

Relevant External Links for KIR2DS5 Gene

GeneLoc Exon Structure for
KIR2DS5

Expression for KIR2DS5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIR2DS5 Gene

Protein differential expression in normal tissues from HIPED for KIR2DS5 Gene

This gene is overexpressed in Nasal epithelium (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KIR2DS5 Gene



Protein tissue co-expression partners for KIR2DS5 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KIR2DS5

SOURCE GeneReport for Unigene cluster for KIR2DS5 Gene:

Hs.744266

mRNA Expression by UniProt/SwissProt for KIR2DS5 Gene:

Q14953-KI2S5_HUMAN
Tissue specificity: Expressed on a discrete subset of peripheral blood NK cells.
genes like me logo Genes that share expression patterns with KIR2DS5: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIR2DS5 Gene

Orthologs for KIR2DS5 Gene

No data available for Orthologs and Evolution for KIR2DS5 Gene

Paralogs for KIR2DS5 Gene

genes like me logo Genes that share paralogs with KIR2DS5: view

No data available for Paralogs for KIR2DS5 Gene

Variants for KIR2DS5 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for KIR2DS5 Gene

KI2S5_HUMAN-Q14953
The following alleles are known: KIR2DS5*001, KIR2DS5*002, KIR2DS5*003, KIR2DS5*004, KIR2DS5*005, KIR2DS5*006, KIR2DS5*007, KIR2DS5*008, KIR2DS5*009, KIR2DS5*010 and KIR2DS5*011. Allele KIR2DS5*002 is represented in this entry. Allele KIR2DS5*001 product is not expressed at the surface (PubMed:24269691, PubMed:18682925). In Europeans, KIR2DS5 is essentially monomorphic, with allele KIR2DS5*002 being predominant (PubMed:28685972). However, KIR2DS5 is highly polymorphic in Africans (PubMed:28685972). Alleles KIR2DS5*003, KIR2DS5*004, KIR2DS5*005, KIR2DS5*006, KIR2DS5*007 and KIR2DS5*008 have activating potential and recocognize C2 epitopes of HLA-C alleles (PubMed:28685972). Alleles KIR2DS5*002, KIR2DS5*009, KIR2DS5*010 and KIR2DS5*011 have activating potential but do not recocognize (or with very slight avidity) C2 epitopes of HLA-C alleles (PubMed:28685972). Allele KIR2DS5*006 protects pregnant women from pre-eclampsia (PubMed:28685972). Allele KIR2DS5*003 has increased glycosylation levels due to the variant Asn-144 instead of Ser-144, it also has increased cell surface expression. Alleles with variant Gly-179 instead of Arg-179 show lower levels of glycosylation (PubMed:24269691).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KIR2DS5 Gene

SNP ID Clinical significance and condition Chr 19 pos Variation AA Info Type
VAR_080126 - p.Ser2Leu
VAR_080127 - p.His22Arg
VAR_080128 - p.Ser132Pro
VAR_080129 - p.Ser144Asn
VAR_080130 - p.Ser148Phe

Additional dbSNP identifiers (rs#s) for KIR2DS5 Gene

Structural Variations from Database of Genomic Variants (DGV) for KIR2DS5 Gene

Variant ID Type Subtype PubMed ID
dgv1078e212 CNV gain 25503493
dgv1079e212 CNV loss 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
dgv1086e212 CNV loss 25503493
dgv144e55 CNV gain 17911159
dgv145e55 CNV loss 17911159
dgv149n111 CNV deletion 26073780
dgv16e196 CNV duplication 17116639
dgv17e196 CNV deletion 17116639
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
dgv3677n100 CNV loss 25217958
dgv3678n100 CNV loss 25217958
dgv436n27 CNV gain 19166990
dgv437n27 CNV loss 19166990
dgv438n27 CNV gain 19166990
dgv439n27 CNV loss 19166990
dgv534e201 CNV deletion 23290073
dgv535e201 CNV deletion 23290073
dgv536e201 CNV deletion 23290073
dgv537e201 CNV deletion 23290073
dgv6564n54 CNV gain 21841781
dgv6565n54 CNV loss 21841781
dgv6566n54 CNV loss 21841781
dgv6567n54 CNV loss 21841781
dgv6568n54 CNV loss 21841781
dgv6569n54 CNV gain 21841781
dgv6570n54 CNV loss 21841781
dgv6571n54 CNV gain+loss 21841781
dgv6572n54 CNV loss 21841781
dgv6573n54 CNV gain+loss 21841781
dgv6574n54 CNV loss 21841781
dgv6575n54 CNV loss 21841781
dgv6576n54 CNV gain+loss 21841781
dgv6577n54 CNV loss 21841781
dgv6578n54 CNV loss 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
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
esv2718910 CNV deletion 23290073
esv2718914 CNV deletion 23290073
esv2718915 CNV deletion 23290073
esv2718916 CNV deletion 23290073
esv2718925 CNV deletion 23290073
esv2718927 CNV deletion 23290073
esv2718928 CNV deletion 23290073
esv2718930 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
esv3644816 CNV loss 21293372
esv3644817 CNV gain 21293372
esv3644818 CNV loss 21293372
esv3644819 CNV gain 21293372
esv3644820 CNV loss 21293372
esv3644821 CNV loss 21293372
esv3893249 CNV loss 25118596
esv6207 CNV loss 19470904
esv7080 CNV loss 19470904
nsv1060113 CNV gain 25217958
nsv1071948 CNV deletion 25765185
nsv1072364 CNV deletion 25765185
nsv1072365 CNV deletion 25765185
nsv1121986 CNV deletion 24896259
nsv1126531 CNV deletion 24896259
nsv1126532 CNV deletion 24896259
nsv1128785 CNV duplication 24896259
nsv1130918 CNV deletion 24896259
nsv1133455 CNV deletion 24896259
nsv1135854 CNV deletion 24896259
nsv1136289 CNV deletion 24896259
nsv1153981 CNV deletion 26484159
nsv1160665 CNV deletion 26073780
nsv1160668 CNV deletion 26073780
nsv1160669 CNV deletion 26073780
nsv138073 CNV deletion 16902084
nsv138103 CNV insertion 16902084
nsv428372 CNV gain+loss 18775914
nsv436250 CNV deletion 17901297
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
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
nsv580252 CNV gain 21841781
nsv580253 CNV loss 21841781
nsv580255 CNV gain 21841781
nsv580271 CNV loss 21841781
nsv580272 CNV loss 21841781
nsv580280 CNV loss 21841781
nsv580281 CNV loss 21841781
nsv580284 CNV gain 21841781
nsv580289 CNV loss 21841781
nsv580290 CNV gain+loss 21841781
nsv580293 CNV gain 21841781
nsv580300 CNV gain+loss 21841781
nsv580301 CNV loss 21841781
nsv580302 CNV gain 21841781
nsv580303 CNV loss 21841781
nsv580304 CNV gain 21841781
nsv580305 CNV loss 21841781
nsv580310 CNV gain 21841781
nsv580311 CNV loss 21841781
nsv580315 CNV loss 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
nsv580338 CNV gain 21841781
nsv817872 CNV gain+loss 17921354
nsv833879 CNV gain+loss 17160897
nsv953618 CNV duplication 24416366
nsv953619 CNV duplication 24416366
nsv953620 CNV deletion 24416366
nsv953621 CNV deletion 24416366
nsv953622 CNV duplication 24416366
nsv956586 CNV deletion 24416366
nsv961301 OTHER complex 23825009
nsv9761 CNV gain+loss 18304495
nsv9762 CNV gain 18304495
nsv9763 CNV loss 18304495
nsv9764 CNV gain 18304495
nsv9765 CNV gain 18304495
nsv978852 CNV duplication 23825009
nsv978853 CNV duplication 23825009

Additional Variant Information for KIR2DS5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIR2DS5

No data available for Variation tolerance for KIR2DS5 Gene

Disorders for KIR2DS5 Gene

Additional Disease Information for KIR2DS5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for KIR2DS5 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KIR2DS5 Gene

Publications for KIR2DS5 Gene

  1. Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis. (PMID: 19630074) Lorentzen AR … Harbo HF (Annals of neurology 2009) 3 23 41 54
  2. Activating KIR genes are associated with ankylosing spondylitis in Asian populations. (PMID: 18638658) Díaz-Peña R … López-Larrea C (Human immunology 2008) 3 23 41 54
  3. Killer cell immunoglobulin-like receptor (KIR) genes in the Basque population: association study of KIR gene contents with type 1 diabetes mellitus. (PMID: 16698433) Santin I … Bilbao JR (Human immunology 2006) 3 23 41 54
  4. Alternatively spliced forms of human killer inhibitory receptors. (PMID: 8662091) Döhring C … Colonna M (Immunogenetics 1996) 2 3 4 54
  5. KIR2DS5 allotypes that recognize the C2 epitope of HLA-C are common among Africans and absent from Europeans. (PMID: 28685972) Blokhuis JH … Parham P (Immunity, inflammation and disease 2017) 3 4 54

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