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KIR2DS2 Gene(Protein Coding)

Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 2

GCID:
GC19Ms00194
GIFtS:
29
Genes Participants
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Aliases for KIR2DS2 Gene

Aliases for KIR2DS2 Gene

  • Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 2 2 3
  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short Cytoplasmic Tail, 2 2 3
  • P58 Natural Killer Cell Receptor Clone CL-49 3 4
  • CD158 Antigen-Like Family Member J 3 4
  • MHC Class I NK Cell Receptor 3 4
  • NK Receptor 183 ActI 3 4
  • CD158J 3 4
  • NKAT-5 3 4
  • NKAT5 3 4
  • Killer-Cell Immunoglobulin-Like Receptor Two Domains Short Tail 2 Protein 3
  • Killer Cell Immunoglobulin-Like Receptor KIR2DS2 3
  • Killer Cell Immunoglobulin-Like Receptor 2DS2 3
  • P58 Killer Cell Inhibitory Receptor KIR-K7a 3
  • Natural Killer Cell Inhibitory Receptor 3
  • Natural Killer Associated Transcript 5 3
  • Natural Killer-Associated Transcript 5 4
  • Killer-Cell Ig-Like Receptor 3
  • P58 NK Receptor CL-49 4
  • CD158j Antigen 4
  • KIR-2DS2 3
  • 183ActI 3
  • CD158b 3
  • Cl-49 3

External Ids for KIR2DS2 Gene

Previous GeneCards Identifiers for KIR2DS2 Gene

  • GC19P055513
  • GC19P9D0131
  • GC19P9F0131
  • GC00P9Q0131
  • GC19P9H0009
  • GC19P9H0131
  • GC19P059936
  • GC19P9I0131
  • GC19U900901
  • GC19P055237
  • GC19P9W0464
  • GC19M8U0161
  • GC19Pk00721

Summaries for KIR2DS2 Gene

Entrez Gene Summary for KIR2DS2 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 represents a haplotype-specific family member that encodes a protein with a short cytoplasmic tail. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2014]

GeneCards Summary for KIR2DS2 Gene

KIR2DS2 (Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 2) is a Protein Coding gene. Diseases associated with KIR2DS2 include Birdshot Chorioretinopathy. Among its related pathways are Innate Immune System and Immune response Role of DAP12 receptors in NK cells. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for KIR2DS2 Gene

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

Additional gene information for KIR2DS2 Gene

No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIR2DS2 Gene

Genomics for KIR2DS2 Gene

Products:

  1. Regulatory Element

Genomic Locations for KIR2DS2 Gene

Genomic Locations for KIR2DS2 Gene
chr19:194,387-208,698
(GRCh38/hg38)
Size:
14,312 bases
Orientation:
Minus strand

Genomic View for KIR2DS2 Gene

Genes around KIR2DS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
GeneLoc Logo Gene Density

RefSeq DNA sequence for KIR2DS2 Gene

No data available for GeneHancer (GH) Regulatory Elements for KIR2DS2 Gene

Proteins for KIR2DS2 Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for KIR2DS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43631-KI2S2_HUMAN
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DS2
    Protein Accession:
    P43631
    Secondary Accessions:
    • Q14955
    • Q6H2G9

    Protein attributes for KIR2DS2 Gene

    Size:
    304 amino acids
    Molecular mass:
    33502 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC50338.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for KIR2DS2 Gene

neXtProt entry for KIR2DS2 Gene

Post-translational modifications for KIR2DS2 Gene

  • Glycosylation at isoforms=84, posLast=178178, and posLast=211211

Other Protein References for KIR2DS2 Gene

REFSEQ proteins:

No data available for DME Specific Peptides for KIR2DS2 Gene

Domains & Families for KIR2DS2 Gene

Gene Families for KIR2DS2 Gene

HGNC:

Protein Domains for KIR2DS2 Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for KIR2DS2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P43631

UniProtKB/Swiss-Prot:

KI2S2_HUMAN :
  • Belongs to the immunoglobulin superfamily.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIR2DS2: view

Function for KIR2DS2 Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for KIR2DS2 Gene

GENATLAS Biochemistry:
natural killer cell immunoglobulin-like activating receptor for HLA-C antigens,2DS2,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.

Gene Ontology (GO) - Molecular Function for KIR2DS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity NAS 8627176
genes like me logo Genes that share ontologies with KIR2DS2: view
genes like me logo Genes that share phenotypes with KIR2DS2: view

Animal Model 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 KIR2DS2 Gene

Localization for KIR2DS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR2DS2 Gene

Cell membrane; Single-pass type I membrane protein.

Gene Ontology (GO) - Cellular Components for KIR2DS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0016021 integral component of membrane NAS 8627176
genes like me logo Genes that share ontologies with KIR2DS2: view

No data available for Subcellular locations from COMPARTMENTS and Subcellular locations from the Human Protein Atlas (HPA) for KIR2DS2 Gene

Pathways & Interactions for KIR2DS2 Gene

genes like me logo Genes that share pathways with KIR2DS2: view

Gene Ontology (GO) - Biological Process for KIR2DS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 8627176
GO:0007165 signal transduction IEA --
GO:0045087 innate immune response TAS --
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with KIR2DS2: view

No data available for SIGNOR curated interactions for KIR2DS2 Gene

Drugs & Compounds for KIR2DS2 Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for KIR2DS2 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for KIR2DS2 Gene

(6) REFSEQ mRNAs :

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIR2DS2 Gene

No ASD Table

Relevant External Links for KIR2DS2 Gene

GeneLoc Exon Structure for
KIR2DS2
ECgene alternative splicing isoforms for
KIR2DS2

Expression for KIR2DS2 Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIR2DS2 Gene

mRNA expression in normal human tissues for KIR2DS2 Gene
mRNA expression by BioGPS for KIR2DS2 Gene

NURSA nuclear receptor signaling pathways regulating expression of KIR2DS2 Gene:

KIR2DS2

SOURCE GeneReport for Unigene cluster for KIR2DS2 Gene:

Hs.512572
genes like me logo Genes that share expression patterns with KIR2DS2: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , 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 KIR2DS2 Gene

Orthologs for KIR2DS2 Gene

No data available for Orthologs and Evolution for KIR2DS2 Gene

Paralogs for KIR2DS2 Gene

No data available for Paralogs for KIR2DS2 Gene

Variants for KIR2DS2 Gene

Sequence variations from dbSNP and Humsavar for KIR2DS2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1063326 -- p.Lys254Asn
rs2262065 -- p.Lys237Glu
rs3810343 -- p.Ala9Val
rs673568 -- p.Tyr66Phe

Structural Variations from Database of Genomic Variants (DGV) for KIR2DS2 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
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
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
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
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
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
nsv978852 CNV duplication 23825009
nsv978853 CNV duplication 23825009

Additional Variant Information for KIR2DS2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIR2DS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for KIR2DS2 Gene

Disorders for KIR2DS2 Gene

MalaCards: The human disease database

(1) MalaCards diseases for KIR2DS2 Gene - From: GeneCards

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

Additional Disease Information for KIR2DS2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KIR2DS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIR2DS2 Gene

Publications for KIR2DS2 Gene

  1. Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells. (PMID: 7716543) Colonna M … Samaridis J (Science (New York, N.Y.) 1995) 2 3 4 58
  2. 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
  3. Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection. (PMID: 20878400) Wauquier N … Vieillard V (Immunogenetics 2010) 3 44 58
  4. Inhibitory KIR and specific HLA-C gene combinations confer susceptibility to or protection against chronic hepatitis B. (PMID: 20643584) Gao X … Zhao Y (Clinical immunology (Orlando, Fla.) 2010) 3 44 58
  5. Association of killer cell immunoglobulin-like receptors and human leukocyte antigen-C genotypes in South Brazilian with type 1 diabetes. (PMID: 20580654) Jobim M … Schwartsmann G (Human immunology 2010) 3 44 58

Products for KIR2DS2 Gene

Sources for KIR2DS2 Gene

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