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Aliases for KIR2DS1 Gene

Aliases for KIR2DS1 Gene

  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short Cytoplasmic Tail, 1 2 3
  • MHC Class I NK Cell Receptor Eb6 ActI 3 4
  • CD158 Antigen-Like Family Member H 3 4
  • CD158H 3 4
  • Killer Cell Immunoglobulin-Like Receptor KIRDS1 3
  • Killer Cell Immunoglobulin-Like Receptor 2DS1 3
  • Killer-Cell Immunoglobulin-Like Receptor 3
  • CD158h Antigen 4
  • CD158A 3
  • P50.1 3

External Ids for KIR2DS1 Gene

Previous GeneCards Identifiers for KIR2DS1 Gene

  • GC19U990053
  • GC19P9D0115
  • GC19P9F0116
  • GC00P9Q0116
  • GC19P9H0008
  • GC19P059932
  • GC19P9I0115
  • GC19P9I0024
  • GC19P9I0101
  • GC19P055281

Summaries for KIR2DS1 Gene

Entrez Gene Summary for KIR2DS1 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 KIR2DS1 Gene

KIR2DS1 (Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short Cytoplasmic Tail, 1) is a Protein Coding gene. Diseases associated with KIR2DS1 include guttate psoriasis and birdshot chorioretinopathy. Among its related pathways are Signaling by FGFR and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot for KIR2DS1 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 KIR2DS1 Gene

Genomics for KIR2DS1 Gene

Genomic Location for KIR2DS1 Gene

Start:
13,424 bp from pter
End:
56,333 bp from pter
Size:
42,910 bases
Orientation:
Minus strand

Genomic View for KIR2DS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:

RefSeq DNA sequence for KIR2DS1 Gene

No data available for Regulatory Elements for KIR2DS1 Gene

Proteins for KIR2DS1 Gene

  • Protein details for KIR2DS1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14954-KI2S1_HUMAN
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DS1
    Protein Accession:
    Q14954
    Secondary Accessions:
    • O43471

    Protein attributes for KIR2DS1 Gene

    Size:
    304 amino acids
    Molecular mass:
    33646 Da
    Quaternary structure:
    No Data Available

neXtProt entry for KIR2DS1 Gene

Proteomics data for KIR2DS1 Gene at MOPED

Post-translational modifications for KIR2DS1 Gene

  • Glycosylation at Asn67, Asn84, Asn144, and Asn178
  • Modification sites at PhosphoSitePlus

Other Protein References for KIR2DS1 Gene

Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KIR2DS1 Gene

Domains for KIR2DS1 Gene

Gene Families for KIR2DS1 Gene

HGNC:
  • CD :CD molecules
  • IGD :Immunoglobulin superfamily / Immunoglobulin-like domain containing
  • KIR :Killer cell immunoglobulin-like receptors

Protein Domains for KIR2DS1 Gene

Suggested Antigen Peptide Sequences for KIR2DS1 Gene

Graphical View of Domain Structure for InterPro Entry

Q14954

UniProtKB/Swiss-Prot:

KI2S1_HUMAN :
  • Q14954
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 KIR2DS1: view

Function for KIR2DS1 Gene

Molecular function for KIR2DS1 Gene

GENATLAS Biochemistry: natural killer cell immunoglobulin-like activating receptor for HLA-C antigens,2DS1
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 KIR2DS1 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 KIR2DS1: view

No data available for Enzyme Numbers (IUBMB) , Phenotypes , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KIR2DS1 Gene

Localization for KIR2DS1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR2DS1 Gene

Cell membrane; Single-pass type I membrane protein.

Gene Ontology (GO) - Cellular Components for KIR2DS1 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 KIR2DS1: view

No data available for Subcellular locations from COMPARTMENTS for KIR2DS1 Gene

Pathways for KIR2DS1 Gene

genes like me logo Genes that share pathways with KIR2DS1: view

Pathways by source for KIR2DS1 Gene

Interacting Proteins for KIR2DS1 Gene

Selected Interacting proteins: Q14954-KI2S1_HUMAN for KIR2DS1 Gene via I2D

Symbol External ID(s) Details
HLA-C

Gene Ontology (GO) - Biological Process for KIR2DS1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006955 immune response NAS 8627176
GO:0007165 signal transduction NAS 8627176
GO:0045087 innate immune response TAS --
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with KIR2DS1: view

Transcripts for KIR2DS1 Gene

Unigene Clusters for KIR2DS1 Gene

Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIR2DS1 Gene

No ASD Table

Relevant External Links for KIR2DS1 Gene

GeneLoc Exon Structure for
KIR2DS1
ECgene alternative splicing isoforms for
KIR2DS1

Expression for KIR2DS1 Gene

mRNA expression in normal human tissues for KIR2DS1 Gene

SOURCE GeneReport for Unigene cluster for KIR2DS1 Gene Hs.744319

genes like me logo Genes that share expressions with KIR2DS1: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein expression and mRNA Expression by UniProt/SwissProt for KIR2DS1 Gene

Orthologs for KIR2DS1 Gene

No data available for Orthologs and Evolution for KIR2DS1 Gene

Paralogs for KIR2DS1 Gene

genes like me logo Genes that share paralogs with KIR2DS1: view

No data available for Paralogs for KIR2DS1 Gene

Variants for KIR2DS1 Gene

Sequence variations from dbSNP and Humsavar for KIR2DS1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
VAR_010318 -
VAR_059419 -

Relevant External Links for KIR2DS1 Gene

HapMap Linkage Disequilibrium report
KIR2DS1
Locus Specific Mutation Databases (LSDB)
KIR2DS1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for KIR2DS1 Gene

Disorders for KIR2DS1 Gene

(1) Novoseek inferred disease relationships for KIR2DS1 Gene

Disease -log(P) Hits PubMed IDs
psoriasis 33.9 5

Relevant External Links for KIR2DS1

Genetic Association Database (GAD)
KIR2DS1
Human Genome Epidemiology (HuGE) Navigator
KIR2DS1
genes like me logo Genes that share disorders with KIR2DS1: view

No data available for UniProtKB/Swiss-Prot for KIR2DS1 Gene

Publications for KIR2DS1 Gene

  1. Gene for the activating natural killer cell receptor, KIR2DS1, is associated with susceptibility to psoriasis vulgaris. (PMID: 15310528) A8uszczek W. … KuA9nierczyk P. (Hum. Immunol. 2004) 3 23 48
  2. A role for KIR gene variants other than KIR2DS1 in conferring susceptibility to psoriasis. (PMID: 16829306) PA8oski R. … Malejczyk J. (Hum. Immunol. 2006) 3 23 48
  3. Increased activating killer immunoglobulin-like receptor genes and decreased specific HLA-C alleles in couples with recurrent spontaneous abortion. (PMID: 17617375) Wang S. … Chen Z.J. (Biochem. Biophys. Res. Commun. 2007) 3 23 48
  4. Activating killer cell immunoglobulin-like receptors 3DS1 and 2DS1 protect against developing the severe form of recurrent respiratory papillomatosis. (PMID: 19861144) Bonagura V.R. … Rajalingam R. (Hum. Immunol. 2010) 3 23 48
  5. Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis. (PMID: 19630074) Lorentzen A.R. … Harbo H.F. (Ann. Neurol. 2009) 3 23 48

Products for KIR2DS1 Gene

Sources for KIR2DS1 Gene

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