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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 3
  • CD158h Antigen 4
  • KIR2DP1DL1 3
  • KIR2DS4 3
  • 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 Immune System and Interleukin receptor SHC signaling. 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

Chromosome:
19
Start:
13,877 bp from pter
End:
27,897 bp from pter
Size:
14,021 bases
Orientation:
Minus strand

Genomic View for KIR2DS1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
GeneLoc Logo Gene Density

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 Asn 67, Asn 84, Asn 144, and Asn 178
  • Modification sites at PhosphoSitePlus

Other Protein References for KIR2DS1 Gene

REFSEQ proteins:

Antibody Products

  • R&D Systems Antibodies for KIR2DS1 (KIR2DS1/CD158h)

No data available for DME Specific Peptides for KIR2DS1 Gene

Domains & Families for KIR2DS1 Gene

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 :
  • 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 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 Targets 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 & Interactions for KIR2DS1 Gene

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

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

No data available for SIGNOR curated interactions for KIR2DS1 Gene

Drugs & Compounds for KIR2DS1 Gene

No Compound Related Data Available

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 expression patterns with KIR2DS1: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

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 , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
rs7251885 -- 1(-) GGAGG(C/G)AGAGA upstream-variant-2KB
rs7251889 -- 1(-) AGAGA(A/G)CAAAC upstream-variant-2KB
rs7258322 -- 1(-) GCTGG(C/T)GTTAC upstream-variant-2KB
rs28439988 -- 1(-) ATGCT(A/C)CACTT upstream-variant-2KB
rs28622131 -- 1(-) CAGAG(C/G)CCTCT upstream-variant-2KB

Relevant External Links for KIR2DS1 Gene

HapMap Linkage Disequilibrium report
KIR2DS1

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

Disorders for KIR2DS1 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KIR2DS1 Gene - From: GeneCards

Disorder Aliases PubMed IDs
guttate psoriasis
  • psoriasis guttate
birdshot chorioretinopathy
  • bscr
- elite association

Relevant External Links for KIR2DS1

Genetic Association Database (GAD)
KIR2DS1
Human Genome Epidemiology (HuGE) Navigator
KIR2DS1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIR2DS1
genes like me logo Genes that share disorders with KIR2DS1: view

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

Publications for KIR2DS1 Gene

  1. [Killer immunoglobulin-like receptor gene genotype and expression pattern in healthy people]. (PMID: 20137133) Dou L.P. … Yu L. (Zhongguo Shi Yan Xue Ye Xue Za Zhi 2010) 23 67
  2. Killer cell immunoglobulin-like receptor gene diversity in a Caucasian population of southern Brazil. (PMID: 20082646) Jobim M. … Schwartsmann G. (Int. J. Immunogenet. 2010) 23 67
  3. 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) 23 67
  4. Killer immunoglobulin-like receptor ligand HLA-Bw4 protects against multiple sclerosis. (PMID: 19630074) Lorentzen A.R. … Harbo H.F. (Ann. Neurol. 2009) 23 67
  5. [Killer immunoglobulin-like receptor gene genotype and expression pattern in NK-92MI and K562 cells]. (PMID: 19737456) Dou L.P. … Yu L. (Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 2009) 23 67

Products for KIR2DS1 Gene

Sources for KIR2DS1 Gene

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