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Aliases for KIR2DS3 Gene

Aliases for KIR2DS3 Gene

  • Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 3 2 3
  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short Cytoplasmic Tail, 3 2 3
  • Natural Killer-Associated Transcript 7 3 4
  • MHC Class I NK Cell Receptor 3 4
  • NKAT-7 3 4
  • NKAT7 3 4
  • Killer Cell Immunoglobulin-Like Receptor 2DS3 3
  • Natural Killer Cell Inhibitory Receptor 3

External Ids for KIR2DS3 Gene

Previous GeneCards Identifiers for KIR2DS3 Gene

  • GC19P055480
  • GC19P9D0099
  • GC19P9F0099
  • GC00P9Q0098
  • GC19P9H0010
  • GC19P059933
  • GC19P9H0090
  • GC19P9I0099
  • GC19P9I0023
  • GC19P9I0100
  • GC19P055235
  • GC19U901482
  • GC19P8O0081

Summaries for KIR2DS3 Gene

Entrez Gene Summary for KIR2DS3 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 KIR2DS3 Gene

KIR2DS3 (Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 3) is a Protein Coding gene. Diseases associated with KIR2DS3 include Birdshot Chorioretinopathy. Among its related pathways are Allograft rejection and Natural Killer Cell Receptors: Human Target Cell ?�� NK Cell Ligand-Receptor Interactions.

UniProtKB/Swiss-Prot for KIR2DS3 Gene

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

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIR2DS3 Gene

Genomics for KIR2DS3 Gene

Genomic Location for KIR2DS3 Gene

Chromosome:
19
Start:
150,177 bp from pter
End:
164,532 bp from pter
Size:
14,356 bases
Orientation:
Minus strand

Genomic View for KIR2DS3 Gene

Genes around KIR2DS3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for KIR2DS3 Gene

No data available for Regulatory Elements for KIR2DS3 Gene

Proteins for KIR2DS3 Gene

  • Protein details for KIR2DS3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14952-KI2S3_HUMAN
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DS3
    Protein Accession:
    Q14952
    Secondary Accessions:
    • O00644

    Protein attributes for KIR2DS3 Gene

    Size:
    304 amino acids
    Molecular mass:
    33717 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KIR2DS3 Gene

Post-translational modifications for KIR2DS3 Gene

  • Glycosylation at Asn 67, Asn 84, and Asn 178
  • Modification sites at PhosphoSitePlus

Other Protein References for KIR2DS3 Gene

No data available for DME Specific Peptides for KIR2DS3 Gene

Domains & Families for KIR2DS3 Gene

Gene Families for KIR2DS3 Gene

Protein Domains for KIR2DS3 Gene

Graphical View of Domain Structure for InterPro Entry

Q14952

UniProtKB/Swiss-Prot:

KI2S3_HUMAN :
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
  • Belongs to the immunoglobulin superfamily.
Domain:
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIR2DS3: view

Function for KIR2DS3 Gene

Molecular function for KIR2DS3 Gene

GENATLAS Biochemistry:
natural killer cell immunoglobulin-like activating receptor for HLA-C antigens,2DS3,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.

Phenotypes for KIR2DS3 Gene

genes like me logo Genes that share phenotypes with KIR2DS3: view

Animal Model Products

Inhibitory RNA Products

Clone Products

Flow Cytometry 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 KIR2DS3 Gene

Localization for KIR2DS3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR2DS3 Gene

Cell membrane; Single-pass type I membrane protein.

Gene Ontology (GO) - Cellular Components for KIR2DS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005887 integral component of plasma membrane TAS 8765026
genes like me logo Genes that share ontologies with KIR2DS3: view

No data available for Subcellular locations from COMPARTMENTS for KIR2DS3 Gene

Pathways & Interactions for KIR2DS3 Gene

genes like me logo Genes that share pathways with KIR2DS3: view

Interacting Proteins for KIR2DS3 Gene

Selected Interacting proteins: Q14952-KI2S3_HUMAN for KIR2DS3 Gene via IID

Gene Ontology (GO) - Biological Process for KIR2DS3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006968 cellular defense response TAS 8765026
genes like me logo Genes that share ontologies with KIR2DS3: view

No data available for SIGNOR curated interactions for KIR2DS3 Gene

Transcripts for KIR2DS3 Gene

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIR2DS3 Gene

No ASD Table

Relevant External Links for KIR2DS3 Gene

GeneLoc Exon Structure for
KIR2DS3
ECgene alternative splicing isoforms for
KIR2DS3

Expression for KIR2DS3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KIR2DS3 Gene

Protein differential expression in normal tissues from HIPED for KIR2DS3 Gene

This gene is overexpressed in Adipocyte (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KIR2DS3 Gene



Protein tissue co-expression partners for KIR2DS3 Gene

NURSA nuclear receptor signaling pathways regulating expression of KIR2DS3 Gene:

KIR2DS3
genes like me logo Genes that share expression patterns with KIR2DS3: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for KIR2DS3 Gene

Orthologs for KIR2DS3 Gene

No data available for Orthologs and Evolution for KIR2DS3 Gene

Paralogs for KIR2DS3 Gene

No data available for Paralogs for KIR2DS3 Gene

Variants for KIR2DS3 Gene

Sequence variations from dbSNP and Humsavar for KIR2DS3 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs111549685 -- 54,834,078(+) ATATG(A/G)GCCTG intron-variant, reference, synonymous-codon
rs11881042 -- 54,833,983(+) TATGG(C/G)CCTGG intron-variant, reference, synonymous-codon
rs183136657 -- 54,834,012(+) GAGTG(C/G)AGATA intron-variant, reference, missense
rs186184007 -- 54,834,153(+) ATATG(G/T)GTCTG intron-variant
rs201354761 -- 54,834,085(+) CTGGA(-/G)GTGGA intron-variant, reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for KIR2DS3 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
esv3583567 CNV loss 25503493
esv3583569 CNV loss 25503493
esv3644816 CNV loss 21293372
esv3644817 CNV gain 21293372
esv3644818 CNV loss 21293372
esv3644819 CNV gain 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
esv3583566 CNV loss 25503493
esv3583537 CNV loss 25503493
esv3574997 CNV gain 25503493
esv3556634 CNV deletion 23714750
esv3363871 CNV duplication 20981092
esv32828 CNV loss 17666407
esv32688 CNV loss 17666407
esv2758771 CNV gain+loss 17122850
esv2718932 CNV deletion 23290073
esv2718931 CNV deletion 23290073
esv2718930 CNV deletion 23290073
esv2718928 CNV deletion 23290073
esv2718927 CNV deletion 23290073
esv2718925 CNV deletion 23290073
esv2718916 CNV deletion 23290073
esv2718915 CNV deletion 23290073
esv2718914 CNV deletion 23290073
esv2718910 CNV deletion 23290073
esv2718872 CNV deletion 23290073
esv2668549 CNV deletion 23128226
esv2668465 CNV deletion 23128226
esv2667609 CNV deletion 23128226
esv2665895 CNV deletion 23128226
esv26630 CNV gain+loss 19812545
esv2661467 CNV deletion 23128226
esv2477686 CNV loss 19546169
esv2421952 CNV deletion 20811451
dgv76e203 CNV gain+loss 21179565
dgv672e214 CNV loss 21293372
dgv668e199 CNV deletion 23128226
dgv667e199 CNV deletion 23128226
dgv6581n54 CNV gain+loss 21841781
dgv6580n54 CNV gain 21841781
dgv6579n54 CNV loss 21841781
dgv6578n54 CNV loss 21841781
dgv6577n54 CNV loss 21841781
dgv6576n54 CNV gain+loss 21841781
dgv6575n54 CNV loss 21841781
dgv6574n54 CNV loss 21841781
dgv6573n54 CNV gain+loss 21841781
dgv6572n54 CNV loss 21841781
dgv6571n54 CNV gain+loss 21841781
dgv6570n54 CNV loss 21841781
dgv6569n54 CNV gain 21841781
dgv6568n54 CNV loss 21841781
dgv6567n54 CNV loss 21841781
dgv6566n54 CNV loss 21841781
dgv6565n54 CNV loss 21841781
dgv6564n54 CNV gain 21841781
dgv537e201 CNV deletion 23290073
dgv536e201 CNV deletion 23290073
dgv535e201 CNV deletion 23290073
dgv534e201 CNV deletion 23290073
dgv439n27 CNV loss 19166990
dgv438n27 CNV gain 19166990
dgv437n27 CNV loss 19166990
dgv436n27 CNV gain 19166990
dgv3678n100 CNV loss 25217958
dgv3677n100 CNV loss 25217958
dgv3676n100 CNV loss 25217958
dgv3675n100 CNV gain+loss 25217958
dgv3674n100 CNV gain+loss 25217958
dgv3673n100 CNV loss 25217958
dgv3672n100 CNV gain+loss 25217958
dgv3671n100 CNV gain+loss 25217958
dgv3670n100 CNV loss 25217958
dgv3669n100 CNV gain 25217958
dgv3668n100 CNV loss 25217958
dgv3667n100 CNV gain 25217958
dgv3666n100 CNV gain 25217958
dgv1818n106 CNV deletion 24896259
dgv17e196 CNV deletion 17116639
nsv580255 CNV gain 21841781
nsv580253 CNV loss 21841781
nsv580252 CNV gain 21841781
nsv580246 CNV gain 21841781
nsv580245 CNV loss 21841781
nsv517143 CNV gain+loss 19592680
nsv514902 CNV gain 21397061
nsv471706 CNV loss 15918152
nsv471417 CNV gain 19718026
nsv470161 CNV gain 18288195
nsv470160 CNV loss 18288195
nsv469656 CNV loss 16826518
nsv458810 CNV loss 19166990
nsv442774 CNV gain+loss 18776908
nsv437834 CNV loss 16327808
nsv436250 CNV deletion 17901297
nsv428372 CNV gain+loss 18775914
nsv138103 CNV insertion 16902084
nsv138073 CNV deletion 16902084
nsv1160669 CNV deletion 26073780
nsv580329 CNV loss 21841781
nsv580328 CNV gain+loss 21841781
nsv580327 CNV loss 21841781
nsv580326 CNV gain+loss 21841781
nsv580320 CNV loss 21841781
nsv580315 CNV loss 21841781
nsv580311 CNV loss 21841781
nsv580310 CNV gain 21841781
nsv580305 CNV loss 21841781
nsv580304 CNV gain 21841781
nsv580303 CNV loss 21841781
nsv580302 CNV gain 21841781
nsv580301 CNV loss 21841781
nsv580300 CNV gain+loss 21841781
nsv580293 CNV gain 21841781
nsv580290 CNV gain+loss 21841781
nsv580289 CNV loss 21841781
nsv580284 CNV gain 21841781
nsv580281 CNV loss 21841781
nsv580280 CNV loss 21841781
nsv580272 CNV loss 21841781
nsv580271 CNV loss 21841781
nsv978853 CNV duplication 23825009
nsv978852 CNV duplication 23825009
nsv9764 CNV gain 18304495
nsv9763 CNV loss 18304495
nsv9762 CNV gain 18304495
nsv9761 CNV gain+loss 18304495
nsv961301 OTHER complex 23825009
nsv956586 CNV deletion 24416366
nsv953622 CNV duplication 24416366
nsv953621 CNV deletion 24416366
nsv953620 CNV deletion 24416366
nsv953619 CNV duplication 24416366
nsv953618 CNV duplication 24416366
nsv833879 CNV gain+loss 17160897
nsv817872 CNV gain+loss 17921354
nsv580337 CNV loss 21841781
nsv580336 CNV gain 21841781

Relevant External Links for KIR2DS3 Gene

Human Gene Mutation Database (HGMD)
KIR2DS3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIR2DS3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for KIR2DS3 Gene

Disorders for KIR2DS3 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIR2DS3 Gene - From: GeneCards

Disorder Aliases PubMed IDs
birdshot chorioretinopathy
  • birdshot chorioretinitis
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIR2DS3

Genetic Association Database (GAD)
KIR2DS3
Human Genome Epidemiology (HuGE) Navigator
KIR2DS3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIR2DS3
genes like me logo Genes that share disorders with KIR2DS3: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIR2DS3 Gene

Publications for KIR2DS3 Gene

  1. Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis. (PMID: 19630074) Lorentzen A.R. … Harbo H.F. (Ann. Neurol. 2009) 3 22 46 64
  2. KIR genes polymorphism in Argentinean Caucasoid and Amerindian populations. (PMID: 17498266) Flores A.C. … Fainboim L. (Tissue Antigens 2007) 3 22 46 64
  3. Alternatively spliced forms of human killer inhibitory receptors. (PMID: 8662091) Doehring C. … Colonna M. (Immunogenetics 1996) 2 3 4 64
  4. Killer cell immunoglobulin-like receptor gene polymorphisms in patients with leukemia: possible association with susceptibility to the disease. (PMID: 19450876) Zhang Y. … Qi J. (Leuk. Res. 2010) 3 46 64
  5. Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection. (PMID: 19846535) Vidal-CastiA+eira J.R. … LA^pez-Larrea C. (J. Virol. 2010) 3 46 64

Products for KIR2DS3 Gene

Sources for KIR2DS3 Gene

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