Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells an... See more...

Aliases for KLRD1 Gene

Aliases for KLRD1 Gene

  • Killer Cell Lectin Like Receptor D1 2 3 5
  • Killer Cell Lectin-Like Receptor Subfamily D, Member 1 2 3
  • Natural Killer Cells Antigen CD94 3 4
  • NK Cell Receptor 3 4
  • CD94 Antigen 3 4
  • CD94 3 4
  • KP43 3 4
  • Killer Cell Lectin-Like Receptor Subfamily D Member 1 4
  • KLRD1 5

External Ids for KLRD1 Gene

Previous HGNC Symbols for KLRD1 Gene

  • CD94

Previous GeneCards Identifiers for KLRD1 Gene

  • GC12P010143
  • GC12P010583
  • GC12P010360
  • GC12P010351
  • GC12P010457
  • GC12P010378

Summaries for KLRD1 Gene

Entrez Gene Summary for KLRD1 Gene

  • Natural killer (NK) cells are a distinct lineage of lymphocytes that mediate cytotoxic activity and secrete cytokines upon immune stimulation. Several genes of the C-type lectin superfamily, including members of the NKG2 family, are expressed by NK cells and may be involved in the regulation of NK cell function. KLRD1 (CD94) is an antigen preferentially expressed on NK cells and is classified as a type II membrane protein because it has an external C terminus. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2017]

GeneCards Summary for KLRD1 Gene

KLRD1 (Killer Cell Lectin Like Receptor D1) is a Protein Coding gene. Diseases associated with KLRD1 include T-Cell Large Granular Lymphocyte Leukemia and Chronic Nk-Cell Lymphocytosis. Among its related pathways are Immune response Role of DAP12 receptors in NK cells and RET signaling. Gene Ontology (GO) annotations related to this gene include transmembrane signaling receptor activity and MHC class I protein complex binding. An important paralog of this gene is CLEC7A.

UniProtKB/Swiss-Prot Summary for KLRD1 Gene

  • Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.

Gene Wiki entry for KLRD1 Gene

Additional gene information for KLRD1 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KLRD1 Gene

Genomics for KLRD1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for KLRD1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J010303 Promoter/Enhancer 1.4 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 629.2 +78.6 78556 4.4 RUNX3 FOS EP300 JUNB BHLHE40 STAT3 BATF KLRD1 NONHSAG010477.2 KLRC4-KLRK1 KLRF1 KLRC3 KLRK1 KLRC4 ENSG00000255958 GABARAPL1 KLRC1
GH12J010307 Promoter/Enhancer 0.5 EPDnew dbSUPER 600.2 +81.8 81793 0.1 NONHSAG010477.2 KLRD1 piR-43105-100 KLRK1
GH12J010226 Enhancer 0.4 Ensembl 606.7 +1.3 1343 1.6 CEBPB CEBPG MEIS2 KLRD1 TMEM52B STYK1 OLR1 MAGOHB piR-36588-084 KLRK1
GH12J010225 Promoter 0.3 EPDnew 600.7 -0.1 -62 0.1 KLRD1 piR-33303-043 piR-31470-108 piR-39099-062 TMEM52B GABARAPL1
GH12J010211 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 9.2 -12.2 -12224 5.3 CREB1 GATAD2A ATF7 PRDM10 ZNF629 TFE3 LEF1 NFKBIZ ZNF692 RCOR2 GABARAPL1 ENSG00000255958 LOC107984509 NONHSAG010474.2 MN309536 lnc-OLR1-5 KLRA1P TAS2R31 TAS2R20 TAS2R19
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around KLRD1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KLRD1

Top Transcription factor binding sites by QIAGEN in the KLRD1 gene promoter:
  • HNF-1
  • HNF-1A
  • POU2F1a
  • SEF-1 (1)
  • STAT5B

Genomic Locations for KLRD1 Gene

Genomic Locations for KLRD1 Gene
chr12:10,226,058-10,329,608
(GRCh38/hg38)
Size:
103,551 bases
Orientation:
Plus strand
chr12:10,378,657-10,469,850
(GRCh37/hg19)
Size:
91,194 bases
Orientation:
Plus strand

Genomic View for KLRD1 Gene

Genes around KLRD1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLRD1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLRD1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLRD1 Gene

Proteins for KLRD1 Gene

  • Protein details for KLRD1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13241-KLRD1_HUMAN
    Recommended name:
    Natural killer cells antigen CD94
    Protein Accession:
    Q13241
    Secondary Accessions:
    • O43321
    • O43773
    • Q9UBE3
    • Q9UEQ0

    Protein attributes for KLRD1 Gene

    Size:
    179 amino acids
    Molecular mass:
    20513 Da
    Quaternary structure:
    • Can form disulfide-bonded heterodimer with NKG2 family members (PubMed:18083576, PubMed:18332182, PubMed:18448674). KLRD1-KLRC1 heterodimer interacts with peptide-bound HLA-E-B2M heterotrimeric complex. KLRD1 plays a prominent role in directly interacting with HLA-E (PubMed:18083576). Interacts with the adapter protein TYROBP/DAP12; the interaction leads to natural killer cell activation (PubMed:9655483).

    Three dimensional structures from OCA and Proteopedia for KLRD1 Gene

    Alternative splice isoforms for KLRD1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KLRD1 Gene

Post-translational modifications for KLRD1 Gene

  • Glycosylation at Asn83 and Asn132
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for KLRD1

No data available for DME Specific Peptides for KLRD1 Gene

Domains & Families for KLRD1 Gene

Gene Families for KLRD1 Gene

HGNC:
Human Protein Atlas (HPA):
  • CD markers
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for KLRD1 Gene

Suggested Antigen Peptide Sequences for KLRD1 Gene

GenScript: Design optimal peptide antigens:
  • NK cell receptor (KLRD1_HUMAN)
  • cDNA FLJ75697, highly similar to Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA (Q53ZY6_HUMAN)
  • Killer cell lectin-like receptor subfamily D transcript B2 (Q8NFL9_HUMAN)
  • Killer cell lectin-like receptor subfamily D transcript 3 (Q8NFM0_HUMAN)
genes like me logo Genes that share domains with KLRD1: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for KLRD1 Gene

Function for KLRD1 Gene

Molecular function for KLRD1 Gene

UniProtKB/Swiss-Prot Function:
Plays a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells and some cytotoxic T-cells.
GENATLAS Biochemistry:
natural killer cell lectin-like receptor subfamily D,member 1

Phenotypes From GWAS Catalog for KLRD1 Gene

Gene Ontology (GO) - Molecular Function for KLRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004888 transmembrane signaling receptor activity TAS 7589107
GO:0005515 protein binding IPI 8046333
GO:0023024 MHC class I protein complex binding IPI 18448674
GO:0023030 MHC class Ib protein binding, via antigen binding groove IPI 25631937
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with KLRD1: view
genes like me logo Genes that share phenotypes with KLRD1: view

Animal Models for KLRD1 Gene

MGI Knock Outs for KLRD1:

Animal Model Products

CRISPR Products

miRNA for KLRD1 Gene

miRTarBase miRNAs that target KLRD1

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLRD1

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLRD1 Gene

Localization for KLRD1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLRD1 Gene

Cell membrane. Single-pass type II membrane protein.

Subcellular locations from

COMPARTMENTS
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 KLRD1 gene
Compartment Confidence
plasma membrane 5
extracellular 4
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
lysosome 2
mitochondrion 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KLRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0043235 receptor complex IDA 18448674
genes like me logo Genes that share ontologies with KLRD1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KLRD1 Gene

Pathways & Interactions for KLRD1 Gene

genes like me logo Genes that share pathways with KLRD1: view

Pathways by source for KLRD1 Gene

3 GeneGo (Thomson Reuters) pathways for KLRD1 Gene
  • Immune response CD16 signaling in NK cells
  • Immune response Role of DAP12 receptors in NK cells
  • Immune response_Role of integrins in NK cells cytotoxicity
1 R&D Systems pathway for KLRD1 Gene

Gene Ontology (GO) - Biological Process for KLRD1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002228 natural killer cell mediated immunity IDA 18448674
GO:0007166 cell surface receptor signaling pathway TAS 7589107
GO:0045087 innate immune response TAS --
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with KLRD1: view

No data available for SIGNOR curated interactions for KLRD1 Gene

Drugs & Compounds for KLRD1 Gene

(7) Drugs for KLRD1 Gene - From: PharmGKB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adalimumab Approved Pharma 602
Certolizumab pegol Approved Pharma 144
Etanercept Approved, Investigational Pharma 454
Infliximab Approved Pharma 469
Methotrexate Approved Pharma Folate antagonist,inhibits DFHR 1825

(1) Additional Compounds for KLRD1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with KLRD1: view

Transcripts for KLRD1 Gene

mRNA/cDNA for KLRD1 Gene

6 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
11 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KLRD1

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLRD1 Gene

ExUns: 1a · 1b · 1c ^ 2 ^ 3 ^ 4 ^ 5a · 5b ^ 6a · 6b · 6c
SP1:
SP2: -
SP3: -
SP4: -
SP5:

Relevant External Links for KLRD1 Gene

GeneLoc Exon Structure for
KLRD1

Expression for KLRD1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KLRD1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KLRD1 Gene

This gene is overexpressed in Whole Blood (x28.5) and Spleen (x6.6).

Protein differential expression in normal tissues from HIPED for KLRD1 Gene

This gene is overexpressed in NK cells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for KLRD1 Gene



Protein tissue co-expression partners for KLRD1 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KLRD1

SOURCE GeneReport for Unigene cluster for KLRD1 Gene:

Hs.562457

mRNA Expression by UniProt/SwissProt for KLRD1 Gene:

Q13241-KLRD1_HUMAN
Tissue specificity: Natural killer cells.

Evidence on tissue expression from TISSUES for KLRD1 Gene

  • Blood(4.7)
  • Spleen(3.3)
  • Lymph node(3)
  • Bone marrow(2.8)
  • Liver(2.3)
  • Lung(2.2)
  • Intestine(2.2)
genes like me logo Genes that share expression patterns with KLRD1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for KLRD1 Gene

Orthologs for KLRD1 Gene

This gene was present in the common ancestor of mammals.

Orthologs for KLRD1 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia KLRD1 30 31
  • 99.63 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia KLRD1 30 31
  • 76.91 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia KLRD1 30 31
  • 75.81 (n)
OneToMany
-- 31
  • 59 (a)
OneToMany
-- 31
  • 28 (a)
OneToMany
Mouse
(Mus musculus)
Mammalia Klrd1 30 17 31
  • 71.78 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Klrd1 30
  • 70.45 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 39 (a)
OneToMany
-- 31
  • 38 (a)
OneToMany
-- 31
  • 35 (a)
OneToMany
-- 31
  • 30 (a)
OneToMany
-- 31
  • 30 (a)
OneToMany
-- 31
  • 30 (a)
OneToMany
-- 31
  • 30 (a)
OneToMany
-- 31
  • 29 (a)
OneToMany
-- 31
  • 29 (a)
OneToMany
-- 31
  • 28 (a)
OneToMany
-- 31
  • 28 (a)
OneToMany
-- 31
  • 27 (a)
OneToMany
-- 31
  • 27 (a)
OneToMany
-- 31
  • 25 (a)
OneToMany
-- 31
  • 22 (a)
OneToMany
-- 31
  • 21 (a)
OneToMany
-- 31
  • 20 (a)
OneToMany
-- 31
  • 20 (a)
OneToMany
-- 31
  • 19 (a)
OneToMany
-- 31
  • 18 (a)
OneToMany
-- 31
  • 18 (a)
OneToMany
-- 31
  • 18 (a)
OneToMany
-- 31
  • 18 (a)
OneToMany
-- 31
  • 17 (a)
OneToMany
Species where no ortholog for KLRD1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (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 KLRD1 Gene

ENSEMBL:
Gene Tree for KLRD1 (if available)
TreeFam:
Gene Tree for KLRD1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for KLRD1: view image

Paralogs for KLRD1 Gene

(19) SIMAP similar genes for KLRD1 Gene using alignment to 9 proteins:

  • KLRD1_HUMAN
  • E9PCX9_HUMAN
  • F5GX94_HUMAN
  • F5H2B7_HUMAN
  • F6WZH4_HUMAN
  • H0YFB8_HUMAN
  • Q53ZY6_HUMAN
  • Q8NFL9_HUMAN
  • Q8NFM0_HUMAN
genes like me logo Genes that share paralogs with KLRD1: view

Variants for KLRD1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KLRD1 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
rs10772256 - p.Ser25Ala

Additional dbSNP identifiers (rs#s) for KLRD1 Gene

Structural Variations from Database of Genomic Variants (DGV) for KLRD1 Gene

Variant ID Type Subtype PubMed ID
nsv605 CNV deletion 18451855
nsv832328 CNV gain 17160897

Variation tolerance for KLRD1 Gene

Residual Variation Intolerance Score: 72.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.35; 7.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KLRD1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLRD1

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLRD1 Gene

Disorders for KLRD1 Gene

MalaCards: The human disease database

(11) MalaCards diseases for KLRD1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
t-cell large granular lymphocyte leukemia
  • large granular lymphocytic leukaemia
chronic nk-cell lymphocytosis
  • nk-cell large granular lymphocyte lymphocytosis
large granular lymphocyte leukemia
  • t-cell large granular lymphocyte leukemia
ceftazidime allergy
  • fortaz allergy
aggressive nk-cell leukemia
  • aggressive nk-cell leukaemia
- elite association - COSMIC cancer census association via MalaCards
Search KLRD1 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for KLRD1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with KLRD1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KLRD1 Gene

Publications for KLRD1 Gene

  1. Variations of human killer cell lectin-like receptors: common occurrence of NKG2-C deletion in the general population. (PMID: 12618865) Hikami K … Tokunaga K (Genes and immunity 2003) 3 23 41
  2. Structure of CD94 reveals a novel C-type lectin fold: implications for the NK cell-associated CD94/NKG2 receptors. (PMID: 10023772) Boyington JC … Sun PD (Immunity 1999) 3 4 23
  3. Structure of the human CD94 C-type lectin gene. (PMID: 9472066) Rodríguez A … López-Botet M (Immunogenetics 1998) 3 4 23
  4. Molecular characterization of human CD94: a type II membrane glycoprotein related to the C-type lectin superfamily. (PMID: 7589107) Chang C … Lanier LL (European journal of immunology 1995) 2 3 4
  5. Association of NKG2D genetic polymorphism with susceptibility to chronic hepatitis B in a Han Chinese population. (PMID: 20648603) Ma J … Liu Y (Journal of medical virology 2010) 3 41

Products for KLRD1 Gene

Sources for KLRD1 Gene