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Aliases for KIR2DL1 Gene

Aliases for KIR2DL1 Gene

  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic Tail, 1 2 3
  • NKAT1 3 4 6
  • P58 Natural Killer Cell Receptor Clones CL-42/47.11 3 4
  • Natural Killer-Associated Transcript 1 3 4
  • P58.1 MHC Class-I-Specific NK Receptor 3 4
  • CD158 Antigen-Like Family Member A 3 4
  • MHC Class I NK Cell Receptor 3 4
  • P58 NK Receptor CL-42/47.11 3 4
  • CD158A 3 4
  • NKAT-1 3 4
  • Killer Cell Immunoglobulin-Like Receptor 2DL1 3
  • P58 Killer Cell Inhibitory Receptor KIR-K64 3
  • P58 NK Cell Inhibitory Receptor NKR-K6 3
  • Killer Inhibitory Receptor 2-2-1 3
  • Killer Ig Receptor 3
  • CD158a Antigen 4
  • KIR-K64 3
  • KIR221 3
  • P58.1 3
  • NKAT 3

External Ids for KIR2DL1 Gene

Summaries for KIR2DL1 Gene

Entrez Gene Summary for KIR2DL1 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 KIR2DL1 Gene

KIR2DL1 (Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic Tail, 1) is a Protein Coding gene. Diseases associated with KIR2DL1 include large granular lymphocyte leukemia and t-cell large granular lymphocyte leukemia. Among its related pathways are Signaling by FGFR and Class I MHC mediated antigen processing and presentation. GO annotations related to this gene include receptor activity. An important paralog of this gene is KIR2DL4.

UniProtKB/Swiss-Prot for KIR2DL1 Gene

  • Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.

Gene Wiki entry for KIR2DL1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIR2DL1 Gene

Genomics for KIR2DL1 Gene

Genomic Location for KIR2DL1 Gene

Start:
54,769,811 bp from pter
End:
54,784,326 bp from pter
Size:
14,516 bases
Orientation:
Plus strand

Genomic View for KIR2DL1 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for KIR2DL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Regulatory Elements for KIR2DL1 Gene

Proteins for KIR2DL1 Gene

  • Protein details for KIR2DL1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43626-KI2L1_HUMAN
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DL1
    Protein Accession:
    P43626
    Secondary Accessions:
    • O43470
    • Q32WE6
    • Q6IST4

    Protein attributes for KIR2DL1 Gene

    Size:
    348 amino acids
    Molecular mass:
    38505 Da
    Quaternary structure:
    • Interacts with ARRB2. Interacts with PTPN6; the interaction is enhanced by ARRB2. Interacts with PTPN11; the interaction is enhanced by ARRB2.

    Three dimensional structures from OCA and Proteopedia for KIR2DL1 Gene

    Alternative splice isoforms for KIR2DL1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIR2DL1 Gene

Proteomics data for KIR2DL1 Gene at MOPED

Post-translational modifications for KIR2DL1 Gene

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

Other Protein References for KIR2DL1 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for KIR2DL1 Gene

Domains for KIR2DL1 Gene

Gene Families for KIR2DL1 Gene

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

Protein Domains for KIR2DL1 Gene

UniProtKB/Swiss-Prot:

KI2L1_HUMAN
Domain:
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.:
    • P43626
Family:
  • Belongs to the immunoglobulin superfamily.:
    • P43626
genes like me logo Genes that share domains with KIR2DL1: view

Function for KIR2DL1 Gene

Molecular function for KIR2DL1 Gene

GENATLAS Biochemistry: natural killer cell immunoglobulin-like inhibitory receptor for HLA-C antigen,2DL1,58kDa
UniProtKB/Swiss-Prot Function: Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.

Gene Ontology (GO) - Molecular Function for KIR2DL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004872 receptor activity TAS 7749980
GO:0005515 protein binding IPI 18604210
genes like me logo Genes that share ontologies with KIR2DL1: view

Phenotypes for KIR2DL1 Gene

GenomeRNAi human phenotypes for KIR2DL1:
genes like me logo Genes that share phenotypes with KIR2DL1: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for KIR2DL1 Gene

Localization for KIR2DL1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR2DL1 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIR2DL1 Gene COMPARTMENTS Subcellular localization image for KIR2DL1 gene
Compartment Confidence
plasma membrane 5
chloroplast 2
extracellular 2
endoplasmic reticulum 1

Gene Ontology (GO) - Cellular Components for KIR2DL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7749980
genes like me logo Genes that share ontologies with KIR2DL1: view

Pathways for KIR2DL1 Gene

genes like me logo Genes that share pathways with KIR2DL1: view

Pathways by source for KIR2DL1 Gene

Gene Ontology (GO) - Biological Process for KIR2DL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002769 natural killer cell inhibitory signaling pathway IDA 18604210
GO:0006955 immune response TAS 7749980
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with KIR2DL1: view

Compounds for KIR2DL1 Gene

(2) Novoseek inferred chemical compound relationships for KIR2DL1 Gene

Compound -log(P) Hits PubMed IDs
lipid 0 2
tyrosine 0 2
genes like me logo Genes that share compounds with KIR2DL1: view

Transcripts for KIR2DL1 Gene

mRNA/cDNA for KIR2DL1 Gene

(19) REFSEQ mRNAs :
(5) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Alternative Splicing Database (ASD) splice patterns (SP) for KIR2DL1 Gene

No ASD Table

Relevant External Links for KIR2DL1 Gene

GeneLoc Exon Structure for
KIR2DL1
ECgene alternative splicing isoforms for
KIR2DL1

Expression for KIR2DL1 Gene

mRNA expression in normal human tissues for KIR2DL1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIR2DL1 Gene

This gene is overexpressed in Whole Blood (45.4).

SOURCE GeneReport for Unigene cluster for KIR2DL1 Gene Hs.654605

genes like me logo Genes that share expressions with KIR2DL1: view

Orthologs for KIR2DL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIR2DL1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIR3DL1/2 37
  • 71 (a)
OneToOne
cow
(Bos Taurus)
Mammalia -- 37
  • 24 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 37
  • 31 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Kir3dl1 37
  • 30 (a)
ManyToMany
Kir3dl2 37
  • 30 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 25 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 37
  • 15 (a)
ManyToMany
-- 37
  • 11 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 12 (a)
OneToMany
Species with no ortholog for KIR2DL1:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for KIR2DL1 Gene

ENSEMBL:
Gene Tree for KIR2DL1 (if available)
TreeFam:
Gene Tree for KIR2DL1 (if available)

Paralogs for KIR2DL1 Gene

genes like me logo Genes that share paralogs with KIR2DL1: view

Variants for KIR2DL1 Gene

Sequence variations from dbSNP and Humsavar for KIR2DL1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs470716 -- 54,759,645(+) GATGG(A/C)AGGGA intron-variant
rs582302 -- 54,763,754(+) AATTA(C/T)GGAAA intron-variant
rs582419 -- 54,763,835(+) TTCCA(C/T)TGAGT intron-variant
rs586191 -- 54,776,932(+) CCACC(A/G/T)CACCC intron-variant
rs586234 -- 54,783,517(+) GCAGG(A/G)AACAG reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for KIR2DL1 Gene

Variant ID Type Subtype PubMed ID
dgv1119e1 CNV Complex 17122850
esv2667609 CNV Deletion 23128226
esv2718872 CNV Deletion 23290073
dgv1126e1 CNV Complex 17122850
nsv428372 CNV Gain+Loss 18775914
nsv833879 CNV Gain+Loss 17160897
dgv1127e1 CNV Complex 17122850
dgv1128e1 CNV Complex 17122850
nsv469656 CNV Gain 16826518
nsv471706 CNV Loss 15918152
nsv437834 CNV Loss 16327808
dgv667e199 CNV Deletion 23128226
nsv517143 CNV Gain+Loss 19592680
dgv4007n71 CNV Gain+Loss 21882294
dgv4008n71 CNV Gain 21882294
dgv575e201 CNV Deletion 23290073
esv26630 CNV Gain+Loss 19812545
nsv9761 CNV Gain+Loss 18304495
dgv577e201 CNV Deletion 23290073
esv32828 CNV Loss 17666407
dgv1129e1 CNV Complex 17122850
dgv144e55 CNV Gain 17911159
essv19144 CNV CNV 17122850
nsv912427 CNV Loss 21882294
dgv145e55 CNV Loss 17911159
nsv912428 CNV Loss 21882294
essv14850 CNV CNV 17122850
dgv578e201 CNV Deletion 23290073
nsv436250 CNV Deletion 17901297
esv2421952 CNV Deletion 20811451
dgv4009n71 CNV Loss 21882294
esv2718925 CNV Deletion 23290073
dgv4010n71 CNV Gain 21882294
esv6207 CNV Loss 19470904
nsv514902 CNV Complex 21397061
essv15906 CNV CNV 17122850
dgv1130e1 CNV Complex 17122850
dgv668e199 CNV Deletion 23128226
esv2661467 CNV Deletion 23128226
esv2718927 CNV Deletion 23290073
esv2718928 CNV Deletion 23290073
dgv4011n71 CNV Loss 21882294

Relevant External Links for KIR2DL1 Gene

HapMap Linkage Disequilibrium report
KIR2DL1
Human Gene Mutation Database (HGMD)
KIR2DL1
Locus Specific Mutation Databases (LSDB)
KIR2DL1

Disorders for KIR2DL1 Gene

(6) Novoseek inferred disease relationships for KIR2DL1 Gene

Disease -log(P) Hits PubMed IDs
lymphoma t-cell 40.6 2
behcet disease 27.6 1
autoimmune diseases 0 2
rheumatoid arthritis 0 1
tumors 0 3

Relevant External Links for KIR2DL1

Genetic Association Database (GAD)
KIR2DL1
Human Genome Epidemiology (HuGE) Navigator
KIR2DL1
genes like me logo Genes that share disorders with KIR2DL1: view

No data available for UniProtKB/Swiss-Prot for KIR2DL1 Gene

Publications for KIR2DL1 Gene

  1. Comparison of killer Ig-like receptor genotyping and phenotyping for selection of allogeneic blood stem cell donors. (PMID: 15879158) Leung W. … Handgretinger R. (J. Immunol. 2005) 3 23 49
  2. HLA-C and KIR genes in hepatitis C virus infection. (PMID: 16571411) Montes-Cano M.A. … GonzA!lez-Escribano M.F. (Hum. Immunol. 2005) 3 23 49
  3. [Differential expression levels of killer immunoglobin-like receptor genotype in patients with hematological malignancies between high-risk and standard-risk groups]. (PMID: 18718052) Zhao X.Y. … Huang X.J. (Zhongguo Shi Yan Xue Ye Xue Za Zhi 2008) 3 23 49
  4. Killer cell immunoglobulin-like receptor genotypes in Japanese patients with type 1 diabetes. (PMID: 17990989) Mogami S. … Nakamura N. (Tissue Antigens 2007) 3 23 49
  5. [Distribution of immunoglobulin like receptor gene in Han population in China and the impact thereof on the HLA-identical sibling hematopoietic stem cell transplantation]. (PMID: 18269867) Dou L.P. … Yu L. (Zhonghua Yi Xue Za Zhi 2007) 3 23 49

Products for KIR2DL1 Gene

Sources for KIR2DL1 Gene

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