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Aliases for KIR3DL2 Gene

Aliases for KIR3DL2 Gene

  • Killer Cell Immunoglobulin Like Receptor, Three Ig Domains And Long Cytoplasmic Tail 2 2 3 5
  • Killer Cell Immunoglobulin-Like Receptor, Three Domains, Long Cytoplasmic Tail, 2 2 3
  • P70 Natural Killer Cell Receptor Clone CL-5 3 4
  • Natural Killer-Associated Transcript 4 3 4
  • CD158 Antigen-Like Family Member K 3 4
  • MHC Class I NK Cell Receptor 3 4
  • P70 NK Receptor CL-5 3 4
  • CD158K 3 4
  • NKAT-4 3 4
  • NKAT4 3 4
  • Killer Cell Immunoglobulin-Like Receptor 3DL2 3
  • Killer-Cell Immunoglobulin-Like Receptor 3
  • P70 Killer Cell Inhibitory Receptor 3
  • Killer Ig Receptor 3
  • KIR Antigen 3DL2 3
  • CD158k Antigen 4
  • KIR-3DL2 3
  • NKAT4B 3
  • 3DL2 3
  • P140 3

External Ids for KIR3DL2 Gene

Previous GeneCards Identifiers for KIR3DL2 Gene

  • GC19U990058
  • GC19P055664
  • GC19P060005
  • GC19P060010
  • GC19P060053
  • GC19P059939
  • GC19P055361
  • GC19P051684
  • GC19P054889
  • GC19P054900
  • GC19P054917
  • GC19P054936
  • GC19P054956
  • GC19P054979
  • GC19P054998

Summaries for KIR3DL2 Gene

Entrez Gene Summary for KIR3DL2 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. This gene is one of the "framework" loci that is present on all haplotypes. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]

GeneCards Summary for KIR3DL2 Gene

KIR3DL2 (Killer Cell Immunoglobulin Like Receptor, Three Ig Domains And Long Cytoplasmic Tail 2) is a Protein Coding gene. Diseases associated with KIR3DL2 include Mild Pre-Eclampsia and Sezary's Disease. Among its related pathways are Innate Immune System and Allograft rejection. An important paralog of this gene is KIR3DL1.

UniProtKB/Swiss-Prot for KIR3DL2 Gene

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

Gene Wiki entry for KIR3DL2 Gene

Additional gene information for KIR3DL2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIR3DL2 Gene

Genomics for KIR3DL2 Gene

GeneHancer (GH) Regulatory Elements for KIR3DL2 Gene

Promoters and enhancers for KIR3DL2 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
GH19I054850 Promoter 0.8 EPDnew 550.8 +0.0 2 0.1 CC2D1A NFIC CBFA2T3 NCOA2 KIR3DL2 GC19M054869 RNU6-222P
GH19I055337 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 9.4 +489.4 489385 4 CLOCK MLX FEZF1 DMAP1 YY1 E2F8 ZNF143 ZNF548 SP3 NFYC KMT5C ENSG00000276831 LENG8-AS1 U2AF2 LENG8 ZNF628 ENSG00000235681 ENSG00000267523 ENSG00000267096 FAM71E2
GH19I054873 Promoter/Enhancer 1.5 EPDnew FANTOM5 Ensembl ENCODE 8.8 +25.7 25741 5.2 GATA3 ZNF157 POLR2A SPI1 FCAR LILRA2 KIR2DS4 LILRA1 NLRP2 NLRP7 ENSG00000243494 KIR2DL3 EPS8L1 RDH13
GH19I054905 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 5.7 +55.6 55612 2 TAF9B NFRKB ZBTB40 TCF12 POLR2B CBX5 ZBTB2 ZBTB11 REST ELF1 NCR1 KIR3DL2 ENSG00000275012
GH19I055275 Enhancer 1 FANTOM5 Ensembl ENCODE 4.3 +426.4 426373 2.2 SRF POLR2A ZNF189 CEBPB DPF2 ZNF623 RUNX3 SPI1 HSPBP1 KIR3DL2 KIR2DS4 ZNF628 NCR1 EPN1 PPP6R1 KMT5C KIR3DL1 GC19M055263
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around KIR3DL2 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the KIR3DL2 gene promoter:

Genomic Locations for KIR3DL2 Gene

Genomic Locations for KIR3DL2 Gene
chr19:54,850,443-54,867,215
(GRCh38/hg38)
Size:
16,773 bases
Orientation:
Plus strand
chr19:55,361,898-55,378,662
(GRCh37/hg19)

Genomic View for KIR3DL2 Gene

Genes around KIR3DL2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIR3DL2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIR3DL2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for KIR3DL2 Gene

  • Protein details for KIR3DL2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P43630-KI3L2_HUMAN
    Recommended name:
    Killer cell immunoglobulin-like receptor 3DL2
    Protein Accession:
    P43630
    Secondary Accessions:
    • Q13238
    • Q14947
    • Q14948
    • Q92684
    • Q95366
    • Q95367
    • Q95368

    Protein attributes for KIR3DL2 Gene

    Size:
    455 amino acids
    Molecular mass:
    50230 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for KIR3DL2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KIR3DL2 Gene

Post-translational modifications for KIR3DL2 Gene

  • Glycosylation at isoforms=2179, isoforms=2239, posLast=273273, and isoforms=2306
  • Modification sites at PhosphoSitePlus

Other Protein References for KIR3DL2 Gene

Antibody Products

  • R&D Systems Antibodies for KIR3DL2 (KIR3DL2/CD158k)
  • Abcam antibodies for KIR3DL2
  • Santa Cruz Biotechnology (SCBT) Antibodies for KIR3DL2

No data available for DME Specific Peptides for KIR3DL2 Gene

Domains & Families for KIR3DL2 Gene

Gene Families for KIR3DL2 Gene

Protein Domains for KIR3DL2 Gene

Suggested Antigen Peptide Sequences for KIR3DL2 Gene

Graphical View of Domain Structure for InterPro Entry

P43630

UniProtKB/Swiss-Prot:

KI3L2_HUMAN :
  • Belongs to the immunoglobulin superfamily.
Family:
  • Belongs to the immunoglobulin superfamily.
genes like me logo Genes that share domains with KIR3DL2: view

Function for KIR3DL2 Gene

Molecular function for KIR3DL2 Gene

GENATLAS Biochemistry:
natural killer cell immunoglobulin-like inhibitory receptor for HLA-B antigens,3DL2,70kDa,with several alternatively spliced (truncated) forms
UniProtKB/Swiss-Prot Function:
Receptor on natural killer (NK) cells for HLA-A alleles. Inhibits the activity of NK cells thus preventing cell lysis.

Phenotypes From GWAS Catalog for KIR3DL2 Gene

Gene Ontology (GO) - Molecular Function for KIR3DL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 24018270
genes like me logo Genes that share ontologies with KIR3DL2: view

Phenotypes for KIR3DL2 Gene

genes like me logo Genes that share phenotypes with KIR3DL2: view

miRNA for KIR3DL2 Gene

miRTarBase miRNAs that target KIR3DL2

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for KIR3DL2 Gene

Localization for KIR3DL2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR3DL2 Gene

Cell membrane; Single-pass type I 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 KIR3DL2 gene
Compartment Confidence
plasma membrane 5
extracellular 2
peroxisome 1
endoplasmic reticulum 1
endosome 1

Gene Ontology (GO) - Cellular Components for KIR3DL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 7716543
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIR3DL2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KIR3DL2 Gene

Pathways & Interactions for KIR3DL2 Gene

genes like me logo Genes that share pathways with KIR3DL2: view

Interacting Proteins for KIR3DL2 Gene

Gene Ontology (GO) - Biological Process for KIR3DL2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006968 cellular defense response TAS 7716543
GO:0050776 regulation of immune response TAS --
genes like me logo Genes that share ontologies with KIR3DL2: view

No data available for SIGNOR curated interactions for KIR3DL2 Gene

Drugs & Compounds for KIR3DL2 Gene

No Compound Related Data Available

Transcripts for KIR3DL2 Gene

mRNA/cDNA for KIR3DL2 Gene

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

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KIR3DL2 Gene

No ASD Table

Relevant External Links for KIR3DL2 Gene

GeneLoc Exon Structure for
KIR3DL2
ECgene alternative splicing isoforms for
KIR3DL2

Expression for KIR3DL2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KIR3DL2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIR3DL2 Gene

This gene is overexpressed in Whole Blood (x42.2).

Protein differential expression in normal tissues from HIPED for KIR3DL2 Gene

This gene is overexpressed in CD8 Tcells (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KIR3DL2 Gene



Protein tissue co-expression partners for KIR3DL2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of KIR3DL2 Gene:

KIR3DL2

Evidence on tissue expression from TISSUES for KIR3DL2 Gene

  • Blood(4.4)
genes like me logo Genes that share expression patterns with KIR3DL2: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KIR3DL2 Gene

Orthologs for KIR3DL2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIR3DL2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KIR3DL5 33
  • 90.54 (n)
mouse
(Mus musculus)
Mammalia Kir3dl1 34
  • 42 (a)
ManyToMany
Kir3dl2 34
  • 41 (a)
ManyToMany
dog
(Canis familiaris)
Mammalia -- 34
  • 32 (a)
OneToMany
cow
(Bos Taurus)
Mammalia -- 34
  • 30 (a)
ManyToMany
oppossum
(Monodelphis domestica)
Mammalia -- 34
  • 28 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 21 (a)
ManyToMany
-- 34
  • 16 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 34
  • 16 (a)
OneToMany
Species where no ortholog for KIR3DL2 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 KIR3DL2 Gene

ENSEMBL:
Gene Tree for KIR3DL2 (if available)
TreeFam:
Gene Tree for KIR3DL2 (if available)

Paralogs for KIR3DL2 Gene

genes like me logo Genes that share paralogs with KIR3DL2: view

Variants for KIR3DL2 Gene

Sequence variations from dbSNP and Humsavar for KIR3DL2 Gene

SNP ID Clin Chr 19 pos Variation AA Info Type
rs1000058870 -- 54,851,068(+) G/A intron_variant
rs1000072506 -- 54,862,515(+) G/A genic_downstream_transcript_variant, intron_variant
rs1000366378 -- 54,851,755(+) G/A intron_variant
rs1000513175 -- 54,859,458(+) G/C 3_prime_UTR_variant, intron_variant
rs1001031830 -- 54,866,105(+) T/A genic_downstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for KIR3DL2 Gene

Variant ID Type Subtype PubMed ID
dgv1081e212 CNV loss 25503493
dgv1083e212 CNV loss 25503493
dgv1086e212 CNV loss 25503493
dgv144e55 CNV gain 17911159
dgv3667n100 CNV gain 25217958
dgv3668n100 CNV loss 25217958
dgv3672n100 CNV gain+loss 25217958
dgv3675n100 CNV gain+loss 25217958
dgv3676n100 CNV loss 25217958
dgv3677n100 CNV loss 25217958
dgv3678n100 CNV loss 25217958
dgv438n27 CNV gain 19166990
dgv536e201 CNV deletion 23290073
dgv6564n54 CNV gain 21841781
dgv6580n54 CNV gain 21841781
dgv6581n54 CNV gain+loss 21841781
dgv667e199 CNV deletion 23128226
dgv672e214 CNV loss 21293372
dgv76e203 CNV gain+loss 21179565
esv2661467 CNV deletion 23128226
esv26630 CNV gain+loss 19812545
esv2667609 CNV deletion 23128226
esv2718872 CNV deletion 23290073
esv2718931 CNV deletion 23290073
esv2718932 CNV deletion 23290073
esv2758771 CNV gain+loss 17122850
esv32688 CNV loss 17666407
esv3574997 CNV gain 25503493
esv3583566 CNV loss 25503493
esv3583569 CNV loss 25503493
esv3644820 CNV loss 21293372
esv3644821 CNV loss 21293372
nsv1060113 CNV gain 25217958
nsv1072365 CNV deletion 25765185
nsv1126532 CNV deletion 24896259
nsv1136289 CNV deletion 24896259
nsv1160669 CNV deletion 26073780
nsv428372 CNV gain+loss 18775914
nsv437834 CNV loss 16327808
nsv458810 CNV loss 19166990
nsv469656 CNV loss 16826518
nsv471706 CNV loss 15918152
nsv517143 CNV gain+loss 19592680
nsv580329 CNV loss 21841781
nsv580338 CNV gain 21841781
nsv833879 CNV gain+loss 17160897
nsv9765 CNV gain 18304495
nsv978853 CNV duplication 23825009

Variation tolerance for KIR3DL2 Gene

Gene Damage Index Score: 3.87; 58.98% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for KIR3DL2 Gene

Human Gene Mutation Database (HGMD)
KIR3DL2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KIR3DL2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIR3DL2 Gene

Disorders for KIR3DL2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for KIR3DL2 Gene - From: HGMD and DISEASES

Disorder Aliases PubMed IDs
mild pre-eclampsia
  • mild toxemia
sezary's disease
  • sezary disease
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for KIR3DL2

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with KIR3DL2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIR3DL2 Gene

Publications for KIR3DL2 Gene

  1. [The study of killer cell immunoglobulin-like receptor 3DL2 gene polymorphisms and pre-eclampsia]. (PMID: 19953898) Wang XL … Sun CJ (Zhonghua yi xue za zhi 2009) 3 22 44 58
  2. [Allelic polymorphism analysis of killer cell immunoglobulin-like receptor gene 3DL2 in Zhejiang Han population]. (PMID: 16767680) Jiang K … Yan LX (Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2006) 3 22 44 58
  3. Alternatively spliced forms of human killer inhibitory receptors. (PMID: 8662091) Döhring C … Colonna M (Immunogenetics 1996) 2 3 4 58
  4. Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells. (PMID: 7716543) Colonna M … Samaridis J (Science (New York, N.Y.) 1995) 2 3 4 58
  5. Killer cell immunoglobulin-like receptor gene polymorphisms in patients with leukemia: possible association with susceptibility to the disease. (PMID: 19450876) Zhang Y … Qi J (Leukemia research 2010) 3 44 58

Products for KIR3DL2 Gene

Sources for KIR3DL2 Gene

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