KIR2DS4 Gene
protein-coding GIFtS: 53
GCID: GC19P055344
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killer cell immunoglobulin-like receptor, two domains, short...
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Aliases for KIR2DS4 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb) About This Section
|
| Aliases |
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| Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short CytoplasmicTail, 41 2 | | CD158i1 | | KKA31 2 3 | | Cl-391 | | NKAT82 3 5 | | Nkat81 | | Natural Killer-Associated Transcript 82 3 | | KIR1D2 | | CD158I2 3 | | KIR4122 | | NKAT-82 3 | | Killer Cell Immunoglobulin-Like Receptor 2DS42 | | CD158 Antigen-Like Family Member I2 3 | | Killer Inhibitory Receptor 4-1-22 | | MHC Class I NK Cell Receptor2 3 | | KIR Antigen 2DS42 | | P58 Natural Killer Cell Receptor Clones CL-39/CL-172 3 | | Natural Killer Cell Inhibitory Receptor2 | | P58 NK Receptor CL-39/CL-172 3 | | CD158i Antigen3 |
Export aliases for KIR2DS4 gene to outside databasesPrevious GC identifers: GC19U990055 GC19P055663 GC19P060004 GC19P060035 GC19P059931 GC19P051666 |
Summaries for KIR2DS4 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
| Entrez Gene summary for KIR2DS4: Killer cell immunoglobulin-like receptors (KIRs) are transmembrane glycoproteins expressed by natural killer cells andsubsets of T cells. The KIR genes are polymorphic and highly homologous and they are found in a cluster on chromosome19q13.4 within the 1 Mb leukocyte receptor complex (LRC). The gene content of the KIR gene cluster varies amonghaplotypes, although several 'framework' genes are found in all haplotypes (KIR3DL3, KIR3DP1, KIR3DL4, KIR3DL2). TheKIR proteins are classified by the number of extracellular immunoglobulin domains (2D or 3D) and by whether they havea long (L) or short (S) cytoplasmic domain. KIR proteins with the long cytoplasmic domain transduce inhibitory signalsupon ligand binding via an immune tyrosine-based inhibitory motif (ITIM), while KIR proteins with the shortcytoplasmic domain lack the ITIM motif and instead associate with the TYRO protein tyrosine kinase binding protein totransduce activating signals. The ligands for several KIR proteins are subsets of HLA class I molecules; thus, KIRproteins are thought to play an important role in regulation of the immune response. (provided by RefSeq, Jul 2008) UniProtKB/Swiss-Prot: KI2S4_HUMAN, P43632Function: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells Gene Wiki entry for KIR2DS4
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Genomic Views for KIR2DS4 gene
(According to
GeneLoc and/or
HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to
UCSC (hg19) and
Ensembl (release 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics) About This Section
| RefSeq DNA sequence:- NC_000019.9 NC_018930.1 NT_011109.16
Regulatory elements: SABiosciences Regulatory transcription factor binding sites in the KIR2DS4 gene promoter: CREB p53 deltaCREB STAT5A CUTL1 YY1 Other transcription factors
Search SABiosciences Chromatin IP Primers for KIR2DS4
Epigenetics:
|  | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIR2DS4 |
Genomic Location: Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 19q13.4 Ensembl cytogenetic band: 19q13.42 HGNC cytogenetic band: 19q13.4KIR2DS4 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

GeneLoc information about chromosome 19 GeneLoc Exon Structure GeneLoc location for GC19P055344: view genomic region
(about GC identifiers)
Start:
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55,344,131 bp from pter |
End:
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55,360,024 bp from pter |
Size:
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15,894 bases |
Orientation:
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plus strand |
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Proteins for KIR2DS4 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
RefSeq according to NCBI,
PDB rendering according to OCA and/or Proteopedia,
Recombinant Proteins
from
EMD Millipore,
R&D Systems,
GenScript,
Enzo Life Sciences,
OriGene,
Novus Biologicals,
Sino Biological,
ProSpec, and/or
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
| UniProtKB/Swiss-Prot: KI2S4_HUMAN, P43632 (See
protein sequence)Recommended Name: Killer cell immunoglobulin-like receptor 2DS4 precursor Size: 304 amino acids; 33583 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein
Sequence caution: Sequence=AAC50336.1; Type=Erroneous initiation;
1 PDB 3D structure from and Proteopedia for KIR2DS4:3H8N (3D)
 
Secondary accessions: Q6H2G7Explore the universe of human proteins at neXtProt for KIR2DS4: NX_P43632
KIR2DS4 Protein expression data from MOPED and PaxDb: About this image 
REFSEQ proteins: NP_036446.3 ENSEMBL proteins: ENSP00000340011 ENSP00000375609 Reactome Protein details: P43632 Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005887 | integral to plasma membrane |
TAS | 7749980 |
KIR2DS4 for ontologies About GeneDecksing
KIR2DS4 Antibody Products: Assay Products for KIR2DS4: |
Protein
Domains / Families for KIR2DS4 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
|
KIR2DS4 for domains About GeneDecksing
3 InterPro domains/families:Graphical View of Domain Structure for InterPro Entry P43632ProtoNet protein and cluster: P43632 1 Blocks protein family: IPB003599 Immunoglobulin subtype
UniProtKB/Swiss-Prot: KI2S4_HUMAN, P43632Similarity: Belongs to the immunoglobulin superfamilySimilarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains |
Function for KIR2DS4 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
| Function Summary: UniProtKB/Swiss-Prot: KI2S4_HUMAN, P43632Function: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells Genatlas biochemistry entry for KIR2DS4:natural killer cell immunoglobulin-like activating receptor for HLA-C antigens,2DS4,with alternatively spliced(truncated) forms
Clone Products: |  | Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore | |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KIR2DS4 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIR2DS4 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
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|
Pathways & Interactions for KIR2DS4 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
and/or STRING,
Interactions according to 1UniProtKB,
2MINT,
3I2D, and/or
4STRING,
with links to IntAct and
Ensembl,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene).
About This Section
| Unified GeneCards pathways  About this table  See pathways by source
| Super-pathway | contained gene-specific pathways |
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| 1 | Immune System | | | 2 | Natural killer cell mediated cytotoxicity | | | 3 | Signaling by FGFR | | | 4 | Allograft rejection | |
Pathway sources See GeneCards unified pathways Show all pathways
3
Reactome Pathways for KIR2DS4
2
Kegg Pathways (Kegg details for KIR2DS4):
KIR2DS4 for pathways About GeneDecksing
Interactions:
SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KIR2DS4
STRING Interaction
Network Preview (showing 5 interactants - click image to see 6)
 5/6 Interacting proteins for KIR2DS4 (P436323 ENSP000003400114) via UniProtKB, MINT, STRING, and/or I2D (see all 6)About this table
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Drugs & Compounds for KIR2DS4 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
KIR2DS4 for compounds About GeneDecksing
Browse Tocris compounds for KIR2DS4 3 Novoseek chemical compound relationships for KIR2DS4 gene About this table
| Compound |
-log (P-Val) |
Hits |
PubMed IDs for Articles with Shared Sentences (# sentences) |
| tyrosine |
0 |
1 |
9124036 (1) |
| retinoic acid |
0 |
2 |
7554921 (1), 9004232 (1) |
| cysteine |
0 |
1 |
17313188 (1) |
Search CenterWatch for drugs/clinical trials and news about KIR2DS4 / KI2S4 
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Transcripts for KIR2DS4 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 2013) or GenBank, RefSeq according to Entrez Gene,
DOTS (version 10), and/or
AceView,
transcript ids from Ensembl
with links to UCSC,
exon structure from GeneLoc,
alternative splicing isoforms according to ASD and/or
ECgene,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
) About This Section
| REFSEQ mRNAs for KIR2DS4 gene: NM_012314.3 Unigene Cluster for KIR2DS4: Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 Hs.654608 [show with all ESTs]Unigene Representative Sequence: NM_0123142 Ensembl transcripts including schematic representations, and UCSC links where relevant: ENST00000339924(uc010yfk.1 uc010esg.1 uc002qhm.1) ENST00000391729(uc010yfj.2 uc002qhn.1)
Clone Products: |  | OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for KIR2DS4 OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for KIR2DS4 OriGene custom cloning services – gene synthesis, subcloning, mutagenesis,
variant library, vector shuttling 
| |  | GenScript: all cDNA clones in your preferred vector: KIR2DS4 (NM_012314) | |  | DNA2.0 Custom Codon Optimized Gene
Synthesis Service for KIR2DS4 | |  | Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KIR2DS4  |
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KIR2DS4 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KIR2DS4 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIR2DS4 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIR2DS4 |
Additional cDNA sequence: AF002255.1 AF135556.1 AF135563.1 AJ417555.1 AY102623.1 AY102624.1 AY366245.1 AY388472.1 BC096694.1 BC101977.1 BC103693.1 BC108918.1 BC125147.1 BC127084.1 BC144566.1 BC171788.1 L76671.1 U24077.1 U96188.1 X94609.1 3 DOTS entries: DT.95344540 DT.40115449 DT.97842818 3 AceView cDNA sequences: AJ417554 NM_178228 NM_012314 GeneLoc Exon Structure
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Expression for KIR2DS4 gene
(RNA expression data according to
H-InvDB,
NONCODE,
miRBase, and
RNAdb,
Expression images according to data from
BioGPS,
Illumina Human BodyMap, and
CGAP
SAGE,
Sets of similar genes according to GeneDecks,
in vivo and in vitro expression data from LifeMap Discovery™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| KIR2DS4 expression in normal human tissues (normalized intensities) See probesets specificity/sensitivity at GeneAnnot About this imageBioGPS CGAP TAG: --
About this image See KIR2DS4 Protein Expression from SPIRE MOPED and PaxDB Genevestigator expression for KIR2DS4
SOURCE GeneReport for Unigene cluster: Hs.654608 SABiosciences Custom PCR Arrays for KIR2DS4
Primer Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for KIR2DS4 Browse OriGene validated miRNA SYBR primer pairs
| |  | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat KIR2DS4 | |  | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat KIR2DS4 | |  | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat KIR2DS4 |
Orthologs for KIR2DS4 gene
(Orthologs according to
1,2HomoloGene (2older version, for species not in 1newer version),
3euGenes,
4SGD
,
5MGI Mar 06 2013,
with possible further links to
Flybase
and/or
WormBase,
and/or
6Ensembl pan taxonomic compara ,
Gene Trees according to Ensembl and
TreeFam)
About This Section
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--
ENSEMBL Gene Tree for KIR2DS4 (if available) TreeFam Gene Tree for KIR2DS4 (if available)  |
Paralogs for KIR2DS4 gene(Paralogs according to
1HomoloGene, 2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68) About This Section
| Paralogs for KIR2DS4 gene
- KIR2DS2 KIR2DS1 KIR2DS5
18/56 SIMAP similar genes for KIR2DS4 using alignment to 16 protein entries: KI2S4_HUMAN (see all proteins)
(see all similar genes):KIR2DS KIR-K15 KIR-K78 KIR-K61 KIR-K65 KIR411 KIR-K36 p58 KIR2DS2 KIR2DS1 KIR2DL2 KIR412 KIR-K64 KIR2DL3 KIR2DL1 KIR-K3 KIR221 KIR-K39
KIR2DS4 for paralogs About GeneDecksing
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Genomic Variants for KIR2DS4 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, and
DNA2.0,
Linkage Disequilibrium by HapMap,
Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene
Mutation Database (HGMD) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical significance | Chr 19 pos | Sequence | # | AA Chg | Type | More | # | Allele freq | Pop | Total sample | More |
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HapMap Linkage Disequilibrium report for KIR2DS4 (55344131 - 55360024 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions) Database of Genomic Variants (DGV): 28 variations for KIR2DS4 15/27 CNVs (see all 27): 50215 73430 50221 89325 30926 8876 50223 50222 73425 32273 0809 50226 73429 2248 102880 1 Indel: 12036 Locus Specific Mutation Databases (LSDB): KIR2DS4
 | SABiosciences Cancer Mutation PCR Assays |
|  | QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIR2DS4 |
|
Disorders
/ Diseases for KIR2DS4 gene
(in which this Gene is Involved, According to MalaCards,
OMIM, UniProtKB,
the University of Copenhagen DISEASES
database, Novoseek,
Genatlas, GeneTests,
GAD,
HuGE Navigator,
and/or TGDB.)
About This Section
|
KIR2DS4 for disorders About GeneDecksing
OMIM gene information: 604955
OMIM disorders: --
20/58 diseases for KIR2DS4 (see all 58): About MalaCardscraniofacial-deafness-hand syndrome vogt-koyanagi-harada disease klippel-feil syndrome paroxysmal nocturnal hemoglobinuria craniofacial anomalies birdshot chorioretinopathy tropical spastic paraparesis neural tube defect spastic paraparesis familial mediterranean fever non-hodgkin lymphoma cervical intraepithelial neoplasia waardenburg's syndrome anterior uveitis aniridia spontaneous abortion ankylosing spondylitis cutaneous malignant melanoma hemoglobinuria systemic lupus erythematosus
8 Novoseek disease relationships for KIR2DS4 gene About this table
Genetic Association Database (GAD): KIR2DS4 Human Genome Epidemiology (HuGE) Navigator: KIR2DS4 (94 documents) Export disorders for KIR2DS4 gene to outside databases
|
Publications for KIR2DS4 gene (in
PubMed.
Associations of this gene to articles via
1Entrez Gene,
2UniProtKB/Swiss-Prot,
3HGNC,
4GAD,
5PharmGKB,
6HMDB,
7DrugBank,
8UniProtKB/TrEMBL,
9 Novoseek, and/or
10fRNAdb)
About This Section
|
PubMed articles for KIR2DS4 gene, integrated from 9 sources (see all 226): (articles sorted by number of sources associating them with KIR2DS4) | |  | Utopia: connect your pdf to the dynamic world of online information |
- A novel surface molecule homologous to the p58/p50 family of receptors is selectively expressed on a subset of human natural killer cells and induces both triggering of cell functions and proliferation. (PubMed id 8765026)1, 2, 3 Bottino C....Moretta A. (1996)
- Molecular clones of the p58 NK cell receptor reveal immunoglobulin-related molecules with diversity in both the extra- and intracellular domains. (PubMed id 7749980)1, 2, 3 Wagtmann N....Long E.O. (1995)
- KIR2DS4 is a product of gene conversion with KIR3DL2 that introduced specificity for HLA-A*11 while diminishing avidity for HLA-C. (PubMed id 19858347)1, 2 Graef T....Parham P. (2009)
- A population-based cohort study of KIR genes and genotypes in relation to cervical intraepithelial neoplasia. (PubMed id 15730517)1, 4 Arnheim L....Sanjeevi C.B. (2005)
- Distribution of killer cell immunoglobulin-like receptor genes in the Chinese Han population. (PubMed id 15896204)1, 4 Jiang K....Yan L.X. (2005)
- Activation of a subset of human NK cells upon contact with Plasmodium falciparum-infected erythrocytes. (PubMed id 14607943)1, 2 Artavanis-Tsakonas K.... Riley E.M. (2003)
- Alternatively spliced forms of human killer inhibitory receptors. (PubMed id 8662091)1, 2 Dohring C....Colonna M. (1996)
- KIR3DL1/S1 genotypes and KIR2DS4 allelic variants in the AB KIR genotypes are associated with Plasmodium-positive individuals in mal aria infection. (PubMed id 19859704)1, 9 Taniguchi M. and Kawabata M. (2009)
- Distribution of killer cell immunoglobulin-like recep tor genes and 2DS4 alleles in the Chinese Han population. (PubMed id 20034528)1, 9 Bao X....He J. (2010)
- Killer immunoglobulin-like receptor ligand HLA-Bw4 pr otects against multiple sclerosis. (PubMed id 19630074)1, 9 Lorentzen A.R....Harbo H.F. (2009)
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External Searches for KIR2DS4 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing KIR2DS4 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing KIR2DS4 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing KIR2DS4 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL, Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot) About This Section
|
| Name | Description |
| PharmGKB entry for KIR2DS4 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for KIR2DS4 gene: Search GeneIP for patents involving KIR2DS4
GeneCards and IP: Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products for KIR2DS4 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences), In Situ Hybridization Assays from Advanced Cell Diagnostics About This Section
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 | |
 | |
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