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Aliases for KIR2DL4 Gene

Aliases for KIR2DL4 Gene

  • Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 4 2 3
  • Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic Tail, 4 2 3 5
  • Killer Cell Inhibitory Receptor 103AS 3 4
  • MHC Class I NK Cell Receptor KIR103AS 3 4
  • CD158 Antigen-Like Family Member D 3 4
  • KIR-103AS 3 4
  • KIR103AS 3 4
  • CD158D 3 4
  • G9P 3 4
  • Killer-Cell Immunoglobulin-Like Receptor 2DL4 3
  • Killer-Cell Immunoglobulin-Like Receptor 3
  • Natural Killer Cell Inhibitory Receptor 3
  • Killer Ig Receptor 3
  • NK Cell Receptor 3
  • CD158d Antigen 4
  • KIR-2DL4 3
  • KIR103 3
  • KIR 3

External Ids for KIR2DL4 Gene

Previous GeneCards Identifiers for KIR2DL4 Gene

  • GC19P055439
  • GC19P055661
  • GC19P059973
  • GC19P060007
  • GC00P9Q0057
  • GC19P9H0057
  • GC19P9I0057
  • GC19P060018
  • GC19P060022
  • GC19P060023
  • GC19P055239
  • GC19P055242
  • GC19P051637
  • GC19P055247
  • GC19P055250
  • GC19P055255
  • GC19P055260
  • GC19P055265
  • GC19P055272
  • GC19P055276
  • GC19P054878
  • GC19P054897

Summaries for KIR2DL4 Gene

Entrez Gene Summary for KIR2DL4 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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]

GeneCards Summary for KIR2DL4 Gene

KIR2DL4 (Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 4) is a Protein Coding gene. Diseases associated with KIR2DL4 include acute diarrhea and duane retraction syndrome. Among its related pathways are Allograft rejection and Immune response Role of DAP12 receptors in NK cells. GO annotations related to this gene include transmembrane signaling receptor activity. An important paralog of this gene is LILRA6.

UniProtKB/Swiss-Prot for KIR2DL4 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 KIR2DL4 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KIR2DL4 Gene

Genomics for KIR2DL4 Gene

Regulatory Elements for KIR2DL4 Gene

Enhancers for KIR2DL4 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around KIR2DL4 on UCSC Golden Path with GeneCards custom track

Genomic Location for KIR2DL4 Gene

Chromosome:
19
Start:
54,803,535 bp from pter
End:
54,814,517 bp from pter
Size:
10,983 bases
Orientation:
Plus strand

Genomic View for KIR2DL4 Gene

Genes around KIR2DL4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KIR2DL4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KIR2DL4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for KIR2DL4 Gene

  • Protein details for KIR2DL4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q99706-KI2L4_HUMAN
    Recommended name:
    Killer cell immunoglobulin-like receptor 2DL4
    Protein Accession:
    Q99706
    Secondary Accessions:
    • A8W795
    • O14621
    • O14622
    • O14623
    • O14624
    • O43534
    • P78400
    • P78401
    • Q8N738
    • Q99559
    • Q99560
    • Q99561
    • Q99562
    • Q9UQJ7

    Protein attributes for KIR2DL4 Gene

    Size:
    377 amino acids
    Molecular mass:
    41487 Da
    Quaternary structure:
    • Interacts with ARRB2.

    Three dimensional structures from OCA and Proteopedia for KIR2DL4 Gene

    Alternative splice isoforms for KIR2DL4 Gene

neXtProt entry for KIR2DL4 Gene

Proteomics data for KIR2DL4 Gene at MOPED

Post-translational modifications for KIR2DL4 Gene

  • Glycosylation at Asn 141 and Asn 175
  • Modification sites at PhosphoSitePlus

Antibody Products

  • R&D Systems Antibodies for KIR2DL4 (KIR2DL4/CD158d)

No data available for DME Specific Peptides for KIR2DL4 Gene

Domains & Families for KIR2DL4 Gene

Protein Domains for KIR2DL4 Gene

Suggested Antigen Peptide Sequences for KIR2DL4 Gene

Graphical View of Domain Structure for InterPro Entry

Q99706

UniProtKB/Swiss-Prot:

KI2L4_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 KIR2DL4: view

Function for KIR2DL4 Gene

Molecular function for KIR2DL4 Gene

GENATLAS Biochemistry:
natural killer cell immunoglobulin-like inhibitory receptor for HLA-C antigens,2DL4,with several alternatively spliced (truncated) forms
UniProtKB/Swiss-Prot Function:
Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.
genes like me logo Genes that share phenotypes with KIR2DL4: view

Animal Model Products

CRISPR Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for KIR2DL4 Gene

Localization for KIR2DL4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for KIR2DL4 Gene

Cell membrane; Single-pass type I membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for KIR2DL4 Gene COMPARTMENTS Subcellular localization image for KIR2DL4 gene
Compartment Confidence
plasma membrane 5
endosome 2

Gene Ontology (GO) - Cellular Components for KIR2DL4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KIR2DL4: view

Pathways & Interactions for KIR2DL4 Gene

genes like me logo Genes that share pathways with KIR2DL4: view

SIGNOR curated interactions for KIR2DL4 Gene

Is activated by:

Gene Ontology (GO) - Biological Process for KIR2DL4 Gene

None

Drugs & Compounds for KIR2DL4 Gene

(1) Drugs for KIR2DL4 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with KIR2DL4: view

Transcripts for KIR2DL4 Gene

Unigene Clusters for KIR2DL4 Gene

Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for KIR2DL4 Gene

No ASD Table

Relevant External Links for KIR2DL4 Gene

GeneLoc Exon Structure for
KIR2DL4
ECgene alternative splicing isoforms for
KIR2DL4

Expression for KIR2DL4 Gene

mRNA expression in normal human tissues for KIR2DL4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KIR2DL4 Gene

This gene is overexpressed in Whole Blood (x31.6) and Spleen (x9.3).

Protein differential expression in normal tissues from HIPED for KIR2DL4 Gene

This gene is overexpressed in Urine (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KIR2DL4 Gene



SOURCE GeneReport for Unigene cluster for KIR2DL4 Gene Hs.661219

genes like me logo Genes that share expression patterns with KIR2DL4: view

Protein tissue co-expression partners for KIR2DL4 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for KIR2DL4 Gene

Orthologs for KIR2DL4 Gene

This gene was present in the common ancestor of chordates.

Orthologs for KIR2DL4 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia KIR2DL5A 35
  • 71.6 (n)
  • 55.59 (a)
-- 36
  • 28 (a)
ManyToMany
chimpanzee
(Pan troglodytes)
Mammalia KIR2DL4 35
  • 97.35 (n)
  • 95.49 (a)
KIR2DL4 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia -- 36
  • 19 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia -- 36
  • 10 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Kir3dl1 36
  • 32 (a)
ManyToMany
Kir3dl2 36
  • 30 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 14 (a)
ManyToMany
-- 36
  • 11 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 11 (a)
OneToMany
Species with no ortholog for KIR2DL4:
  • 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 KIR2DL4 Gene

ENSEMBL:
Gene Tree for KIR2DL4 (if available)
TreeFam:
Gene Tree for KIR2DL4 (if available)

Paralogs for KIR2DL4 Gene

genes like me logo Genes that share paralogs with KIR2DL4: view

Variants for KIR2DL4 Gene

Sequence variations from dbSNP and Humsavar for KIR2DL4 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
VAR_010307 -
VAR_010308 -
VAR_010309 -
VAR_010310 -
VAR_010311 -

Structural Variations from Database of Genomic Variants (DGV) for KIR2DL4 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
nsv912427 CNV Loss 21882294
dgv145e55 CNV Loss 17911159
essv14850 CNV CNV 17122850
esv2421952 CNV Deletion 20811451
dgv4009n71 CNV Loss 21882294
dgv4010n71 CNV Gain 21882294
nsv514902 CNV Complex 21397061
essv15906 CNV CNV 17122850
dgv1130e1 CNV Complex 17122850
dgv668e199 CNV Deletion 23128226
esv2661467 CNV Deletion 23128226
esv2718928 CNV Deletion 23290073
dgv4011n71 CNV Loss 21882294
dgv4012n71 CNV Gain 21882294
nsv442774 CNV CNV 18776908
essv9282 CNV CNV 17122850
dgv4013n71 CNV Gain 21882294
nsv470160 CNV Loss 18288195
nsv470161 CNV Gain 18288195
dgv436n27 CNV Gain 19166990
dgv437n27 CNV Loss 19166990
nsv817872 CNV Gain+Loss 17921354
nsv458810 CNV Loss 19166990
dgv438n27 CNV Gain 19166990
nsv912441 CNV Gain+Loss 21882294
nsv912443 CNV Loss 21882294
dgv439n27 CNV Loss 19166990
esv2718930 CNV Deletion 23290073

Variation tolerance for KIR2DL4 Gene

Gene Damage Index Score: 1.53; 29.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KIR2DL4 Gene

HapMap Linkage Disequilibrium report
KIR2DL4
Human Gene Mutation Database (HGMD)
KIR2DL4

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KIR2DL4 Gene

Disorders for KIR2DL4 Gene

MalaCards: The human disease database

(5) MalaCards diseases for KIR2DL4 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
acute diarrhea
duane retraction syndrome
  • duane's syndrome
intussusception
  • intussusception nos
gastroenteritis
  • cholera morbus
gastrointestinal system disease
  • alimentary system disease
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for KIR2DL4

Genetic Association Database (GAD)
KIR2DL4
Human Genome Epidemiology (HuGE) Navigator
KIR2DL4
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KIR2DL4
genes like me logo Genes that share disorders with KIR2DL4: view

No data available for UniProtKB/Swiss-Prot and Genatlas for KIR2DL4 Gene

Publications for KIR2DL4 Gene

  1. NK cell receptor gene of the KIR family with two IG domains but highest homology to KIR receptors with three IG domains. (PMID: 8946682) Selvakumar A. … Dupont B. (Tissue Antigens 1996) 2 3 4 23 67
  2. DNA-PKcs controls an endosomal signaling pathway for a proinflammatory response by natural killer cells. (PMID: 20179272) Rajagopalan S. … Long E.O. (Sci Signal 2010) 3 23
  3. Diversity of killer cell immunoglobulin-like receptor genes in Indonesian populations of Java, Kalimantan, Timor and Irian Jaya. (PMID: 19000141) Velickovic M. … Dunckley H. (Tissue Antigens 2009) 3 23
  4. The genotype of the NK cell receptor, KIR2DL4, influences INFgamma secretion by decidual natural killer cells. (PMID: 19509110) Goodridge J.P. … Witt C.S. (Mol. Hum. Reprod. 2009) 3 23
  5. Killer cell immunoglobulin-like receptor allele discrimination by high-resolution melting. (PMID: 19589363) Gonzalez A. … Middleton D. (Hum. Immunol. 2009) 3 23

Products for KIR2DL4 Gene

Sources for KIR2DL4 Gene

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