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Aliases for KIR2DL1 Gene

Aliases for KIR2DL1 Gene

  • Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 1 2 3 5
  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic Tail, 1 2 3
  • 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
  • NKAT1 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
  • KIR2DL Protein 3
  • CD158a Antigen 4
  • KIR2DL1/3DL2 3
  • KIR-K64 3
  • KIR2DL3 3
  • KIR221 3
  • P58.1 3
  • NKAT 3

External Ids for KIR2DL1 Gene

Previous GeneCards Identifiers for KIR2DL1 Gene

  • GC19P056112
  • GC19P055660
  • GC19P059720
  • GC19P059736
  • GC19P059974
  • GC19P059975
  • GC19P059938
  • GC19P059980
  • GC19P059983
  • GC19P055282
  • GC19P055283
  • GC19P054864
  • GC19P054895
  • GC19P054913
  • GC19P054931
  • GC19P054950
  • GC19P054971
  • GC19P054992
  • GC19P055020

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 Ig Domains And Long Cytoplasmic Tail 1) is a Protein Coding gene. Diseases associated with KIR2DL1 include Hematopoietic Stem Cell Transplantation and Birdshot Chorioretinopathy. Among its related pathways are Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell and Allograft rejection. An important paralog of this gene is KIR2DL3.

UniProtKB/Swiss-Prot for KIR2DL1 Gene

  • Receptor on natural killer (NK) cells for some HLA-C alleles such as w4 and w6. Inhibits the activity of NK cells thus preventing cell lysis.

Gene Wiki entry for KIR2DL1 Gene

Additional gene information for KIR2DL1 Gene

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

Genomics for KIR2DL1 Gene

GeneHancer (GH) Regulatory Elements for KIR2DL1 Gene

Promoters and enhancers for KIR2DL1 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J054769 Promoter 0.5 EPDnew 650.7 0.0 -5 0.1 KIR2DL1 LOC101928804 KIR2DP1 ENSG00000215765
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KIR2DL1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIR2DL1 gene promoter:
  • GATA-3
  • GATA-2
  • GATA-1
  • Pax-2a
  • Pax-2
  • RORalpha1

Genomic Locations for KIR2DL1 Gene

Genomic Locations for KIR2DL1 Gene
14,522 bases
Plus strand
14,516 bases
Plus strand

Genomic View for KIR2DL1 Gene

Genes around KIR2DL1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIR2DL1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIR2DL1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for KIR2DL1 Gene

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

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

    Protein attributes for KIR2DL1 Gene

    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


neXtProt entry for KIR2DL1 Gene

Post-translational modifications for KIR2DL1 Gene

  • Glycosylation at isoforms=2178, Asn144, Asn84, and isoforms=267
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for KIR2DL1 (KIR2DL1/CD158a)
  • Abcam antibodies for KIR2DL1

No data available for DME Specific Peptides for KIR2DL1 Gene

Domains & Families for KIR2DL1 Gene

Gene Families for KIR2DL1 Gene

Protein Domains for KIR2DL1 Gene

Suggested Antigen Peptide Sequences for KIR2DL1 Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the immunoglobulin superfamily.
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIR2DL1: view

Function for KIR2DL1 Gene

Molecular function for KIR2DL1 Gene

UniProtKB/Swiss-Prot Function:
Receptor on natural killer (NK) cells for some HLA-C alleles such as w4 and w6. Inhibits the activity of NK cells thus preventing cell lysis.
GENATLAS Biochemistry:
natural killer cell immunoglobulin-like inhibitory receptor for HLA-C antigen,2DL1,58kDa

Gene Ontology (GO) - Molecular Function for KIR2DL1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 8691146
GO:0038023 signaling receptor activity TAS 7749980
genes like me logo Genes that share ontologies with KIR2DL1: view
genes like me logo Genes that share phenotypes with KIR2DL1: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIR2DL1

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KIR2DL1 gene
Compartment Confidence
plasma membrane 5
extracellular 2
endoplasmic reticulum 1
cytosol 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
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIR2DL1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIR2DL1 Gene

Pathways & Interactions for KIR2DL1 Gene

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

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

No data available for SIGNOR curated interactions for KIR2DL1 Gene

Drugs & Compounds for KIR2DL1 Gene

(1) Drugs for KIR2DL1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for KIR2DL1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KIR2DL1: view

Transcripts for KIR2DL1 Gene

mRNA/cDNA for KIR2DL1 Gene

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

Unigene Clusters for KIR2DL1 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KIR2DL1

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

No ASD Table

Relevant External Links for KIR2DL1 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for KIR2DL1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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 (x45.4).

NURSA nuclear receptor signaling pathways regulating expression of KIR2DL1 Gene:


SOURCE GeneReport for Unigene cluster for KIR2DL1 Gene:


mRNA Expression by UniProt/SwissProt for KIR2DL1 Gene:

Tissue specificity: Expressed by NK cells.

Evidence on tissue expression from TISSUES for KIR2DL1 Gene

  • Blood(4.5)
genes like me logo Genes that share expression patterns with KIR2DL1: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIR2DL1 Gene

Orthologs for KIR2DL1 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIR2DL1 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia KIR3DL1/2 34
  • 71 (a)
(Canis familiaris)
Mammalia -- 34
  • 31 (a)
(Mus musculus)
Mammalia Kir3dl1 34
  • 30 (a)
Kir3dl2 34
  • 30 (a)
(Monodelphis domestica)
Mammalia -- 34
  • 25 (a)
(Bos Taurus)
Mammalia -- 34
  • 24 (a)
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 15 (a)
-- 34
  • 11 (a)
(Anolis carolinensis)
Reptilia -- 34
  • 12 (a)
Species where no ortholog for KIR2DL1 was found in the sources mined by GeneCards:
  • 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

Gene Tree for KIR2DL1 (if available)
Gene Tree for KIR2DL1 (if available)
Evolutionary constrained regions (ECRs) for KIR2DL1: view image

Paralogs for KIR2DL1 Gene

(53) SIMAP similar genes for KIR2DL1 Gene using alignment to 20 proteins:

  • E0X064_HUMAN
  • E0X066_HUMAN
  • K7R1R8_HUMAN
  • Q6H2H1_HUMAN
  • Q6H2H2_HUMAN
  • Q6H2H3_HUMAN
  • Q6H2H4_HUMAN
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 Variation AA Info Type
rs1000067648 -- 54,774,776(+) T/G intron_variant
rs1000990420 -- 54,772,772(+) C/G intron_variant
rs1001062397 -- 54,772,143(+) G/A/C intron_variant
rs1001149346 -- 54,782,731(+) T/G genic_downstream_transcript_variant, intron_variant
rs1001581690 -- 54,768,643(+) G/A upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for KIR2DL1 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
dgv144e55 CNV gain 17911159
dgv145e55 CNV loss 17911159
dgv149n111 CNV deletion 26073780
dgv16e196 CNV duplication 17116639
dgv17e196 CNV deletion 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
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
dgv667e199 CNV deletion 23128226
dgv668e199 CNV deletion 23128226
dgv672e214 CNV loss 21293372
dgv76e203 CNV gain+loss 21179565
esv2421952 CNV deletion 20811451
esv2661467 CNV deletion 23128226
esv26630 CNV gain+loss 19812545
esv2667609 CNV deletion 23128226
esv2668465 CNV deletion 23128226
esv2718872 CNV deletion 23290073
esv2718910 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
esv2758771 CNV gain+loss 17122850
esv32828 CNV loss 17666407
esv3644816 CNV loss 21293372
esv3644817 CNV gain 21293372
esv6207 CNV loss 19470904
nsv1071948 CNV deletion 25765185
nsv1126531 CNV deletion 24896259
nsv1133455 CNV deletion 24896259
nsv1160665 CNV deletion 26073780
nsv428372 CNV gain+loss 18775914
nsv436250 CNV deletion 17901297
nsv437834 CNV loss 16327808
nsv469656 CNV loss 16826518
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
nsv833879 CNV gain+loss 17160897
nsv953618 CNV duplication 24416366
nsv953619 CNV duplication 24416366
nsv956586 CNV deletion 24416366
nsv9761 CNV gain+loss 18304495
nsv978852 CNV duplication 23825009

Variation tolerance for KIR2DL1 Gene

Residual Variation Intolerance Score: 97.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.86; 74.03% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIR2DL1 Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIR2DL1 Gene

Disorders for KIR2DL1 Gene

MalaCards: The human disease database

(4) MalaCards diseases for KIR2DL1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIR2DL1

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KIR2DL1: view

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

Publications for KIR2DL1 Gene

  1. [Differential expression levels of killer immunoglobin-like receptor genotype in patients with hematological malignancies between high-risk and standard-risk groups]. (PMID: 18718052) Zhao XY … Huang XJ (Zhongguo shi yan xue ye xue za zhi 2008) 3 22 44 58
  2. Killer cell immunoglobulin-like receptor genotypes in Japanese patients with type 1 diabetes. (PMID: 17990989) Mogami S … Nakamura N (Tissue antigens 2007) 3 22 44 58
  3. [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 LP … Yu L (Zhonghua yi xue za zhi 2007) 3 22 44 58
  4. Comparison of killer Ig-like receptor genotyping and phenotyping for selection of allogeneic blood stem cell donors. (PMID: 15879158) Leung W … Handgretinger R (Journal of immunology (Baltimore, Md. : 1950) 2005) 3 22 44 58
  5. HLA-C and KIR genes in hepatitis C virus infection. (PMID: 16571411) Montes-Cano MA … González-Escribano MF (Human immunology 2005) 3 22 44 58

Products for KIR2DL1 Gene

Sources for KIR2DL1 Gene

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