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KLRC4 Gene

protein-coding   GIFtS: 50
GCID: GC12M010559

Killer Cell Lectin-Like Receptor Subfamily C, Member 4

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Killer Cell Lectin-Like Receptor Subfamily C, Member 41 2     NKG2-F2
NKG2F2 3 5     Natual Killer Cell Group 2-F2
NK Cell Receptor F2 3     NKG2-F Type II Integral Membrane Protein2
NKG2-F-Activating NK Receptor2 3     D12S2489E5

External Ids:    HGNC: 63771   Entrez Gene: 83022   Ensembl: ENSG000001835427   OMIM: 6028935   UniProtKB: O439083   

Export aliases for KLRC4 gene to outside databases

Previous GC identifers: GC12M010207 GC12M010648 GC12M010426 GC12M010451 GC12M010417 GC12M010418 GC12M010303


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for KLRC4 Gene:
Natural killer (NK) cells are lymphocytes that can mediate lysis of certain tumor cells and virus-infected cells
without previous activation. They can also regulate specific humoral and cell-mediated immunity. NK cells
preferentially express several calcium-dependent (C-type) lectins, which have been implicated in the regulation
of NK cell function. This gene is a member of the NKG2 group of genes that are expressed primarily in natural
killer (NK) cells. These family members encode transmembrane proteins that are characterized by a type II
membrane orientation (have an extracellular C-terminus) and the presence of a C-type lectin domain. This family
member is located within the NK complex, a region that contains several C-type lectin genes preferentially
expressed in NK cells. Read-through transcription exists between this gene and the downstream KLRK1 (killer cell
lectin-like receptor subfamily K, member 1) family member. (provided by RefSeq, Dec 2010)

GeneCards Summary for KLRC4 Gene:
KLRC4 (killer cell lectin-like receptor subfamily C, member 4) is a protein-coding gene. Diseases associated with KLRC4 include richter's syndrome, and nasopharyngitis. An important paralog of this gene is KLRC2.

UniProtKB/Swiss-Prot: NKG2F_HUMAN, O43908
Function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells

Gene Wiki entry for KLRC4 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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Regulatory elements:
   Regulatory transcription factor binding sites in the KLRC4 gene promoter:
         c-Fos   AP-1   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for KLRC4

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLRC4


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 12p13.2-p12.3   Ensembl cytogenetic band:  12p13.2   HGNC cytogenetic band: 12p13.2-p12.3

KLRC4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KLRC4 gene location

GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12M010559:  view genomic region     (about GC identifiers)

Start:
10,559,983 bp from pter      End:
10,562,356 bp from pter
Size:
2,374 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: NKG2F_HUMAN, O43908 (See protein sequence)
Recommended Name: NKG2-F type II integral membrane protein  
Size: 158 amino acids; 18234 Da
Subunit: Can form disulfide-bonded heterodimer with CD94
Secondary accessions: O60851

Explore the universe of human proteins at neXtProt for KLRC4: NX_O43908

Explore proteomics data for KLRC4 at MOPED


See KLRC4 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_038459.1  
ENSEMBL proteins: 
 ENSP00000310216  

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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
KLR: Killer cell lectin-like receptors

2 InterPro protein domains:
 IPR016187 C-type_lectin_fold
 IPR016186 C-type_lectin-like

Graphical View of Domain Structure for InterPro Entry O43908

ProtoNet protein and cluster: O43908


KLRC4 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:

     UniProtKB/Swiss-Prot Summary: NKG2F_HUMAN, O43908
Function: May play a role as a receptor for the recognition of MHC class I HLA-E molecules by NK cells

     Genatlas biochemistry entry for KLRC4:
natural killer cell lectin-like receptor subfamily C,member 4,expressed on NK cells,complexing with KAP10 to form
an activating complex receptor for MICA

Phenotypes:
     1 GenomeRNAi human phenotype for KLRC4:
 Decreased viability of wild-ty 

Animal Models:
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miRNA
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miRTarBase miRNAs that target KLRC4:
hsa-mir-26b-5p (MIRT029577), hsa-mir-181a-5p (MIRT025173), hsa-mir-335-5p (MIRT018052)

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
NKG2F_HUMAN, O43908: Membrane; Single-pass type II membrane protein
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
cytosol3
mitochondrion2
nucleus2
peroxisome1
plasma membrane1

Gene Ontology (GO): 1 cellular component term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0016021integral component of membrane IEA--

KLRC4 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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SuperPaths for KLRC4 About    
See pathways by source

SuperPathContained pathways About
1Allograft rejection
Antigen processing and presentation0.36

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways



1 Kegg Pathway  (Kegg details for KLRC4):
    Antigen processing and presentation


KLRC4 for pathways           About GeneDecksing

    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for KLRC4
Interactions:

    Search GeneGlobe Interaction Network for KLRC4

STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

Selected Interacting proteins for KLRC4 (O439083 ENSP000003102164) via UniProtKB, MINT, STRING, and/or I2D (see all 19)
InteractantInteraction Details
GeneCardExternal ID(s)
MICBQ299803, ENSP000002522294I2D: score=1 STRING: ENSP00000252229
ENSG00000206449Q299803I2D: score=1 
ENSG00000224378Q299803I2D: score=1 
ENSG00000227772Q299803I2D: score=1 
ENSG00000231179Q299803I2D: score=1 
About this table

Gene Ontology (GO): 1 biological process term:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006968cellular defense response TAS9683661

KLRC4 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for KLRC4 (NKG2F)



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for KLRC4 gene: 
NM_013431.2  

1 Ensembl transcript including schematic representation, and UCSC links where relevant:
ENST00000309384(uc001qye.3)
miRNA
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  QuantiFast Probe-based Assays in human, mouse, rat KLRC4

Selected AceView cDNA sequences (see all 84):

BC017784 CR597595 AF260135 CB241686 AF439512 CR607215 AA361092 BM456777 
CB216677 X54870 BQ708055 BQ439342 BX489639 BI253358 AW404105 AA766117 
BE543391 AF461811 BI907615 BQ005357 NM_007360 AF350019 AF350018 BG485675 

GeneLoc Exon Structure

Selected Alternative Splicing Database (ASD) splice patterns (SP) for KLRC4 (see all 7)    About this scheme

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4a · 4b ^ 5a · 5b · 5c · 5d ^ 6 ^ 7 ^ 8a · 8b ^ 9a · 9b ^ 10 ^ 11a · 11b ^ 12 ^ 13a · 13b ^ 14 ^ 15a · 15b · 15c
SP1:        -     -           -                       -     -                 -     -     -                       -           -                                 
SP2:                                                  -     -     -           -           -                       -           -                                 
SP3:                                                                                                              -           -                                 
SP4:                                                                                      -                                                                     
SP5:                          -                                                                                                                                 


ECgene alternative splicing isoforms for KLRC4

(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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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KLRC4 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: CTTCTATAAA
KLRC4 Expression
About this image

KLRC4 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

KLRC4 Protein Expression

UniProtKB/Swiss-Prot: NKG2F_HUMAN, O43908
Tissue specificity: Natural killer cells

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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLRC4

(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)
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ENSEMBL Gene Tree for KLRC4 (if available)
TreeFam Gene Tree for KLRC4 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for KLRC4 gene
KLRC22  KLRD12  KLRK12  KLRC4-KLRK12  ENSG000002556412  KLRC12  KLRC32  
4 SIMAP similar genes for KLRC4 using alignment to 1 protein entry:     NKG2F_HUMAN:
KLRC4-KLRK1    KLRC2    KLRC3    KLRC1

KLRC4 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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2 SNPs for KLRC4    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 12 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs18419581,2,4
----see VAR_0134062 mis40--------
rs26171701,2,4
----see VAR_0134072 mis40--------

HapMap Linkage Disequilibrium report for KLRC4 (10559983 - 10562356 bp)

Structural Variations
     Database of Genomic Variants (DGV) 10 variations for KLRC4:    About this table    
Variant IDTypeSubtypePubMed ID
nsv606CNV Loss18451855
dgv1371n71CNV Loss21882294
nsv8914CNV Loss18304495
nsv898759CNV Loss21882294
dgv1370n71CNV Loss21882294
nsv898763CNV Loss21882294
nsv898767CNV Loss21882294
nsv521062CNV Gain19592680
nsv832328CNV Gain17160897
nsv898757CNV Gain21882294

Site Specific Mutation Identification with PCR Assays
SeqTarget long-range PCR primers for resequencing KLRC4
DNA2.0 Custom Variant and Variant Library Synthesis for KLRC4

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 602893    OMIM disorders: --

5 diseases for KLRC4:    
About MalaCards
richter's syndrome    nasopharyngitis    hepatitis b    ulcerative colitis
hepatitis

1 disease from the University of Copenhagen DISEASES database for KLRC4:
Nasopharyngitis

KLRC4 for disorders           About GeneDecksing

Genetic Association Database (GAD): KLRC4
Human Genome Epidemiology (HuGE) Navigator: KLRC4 (7 documents)

Export disorders for KLRC4 gene to outside databases

(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)
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PubMed articles for KLRC4 gene, integrated from 10 sources (see all 29):
(articles sorted by number of sources associating them with KLRC4)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Sequence analysis of a 62-kb region overlapping the human KLRC cluster of genes. (PubMed id 9598306)1, 2, 3, 9 Plougastel B. and Trowsdale J. (Genomics 1998)
  2. Cloning of NKG2-F, a new member of the NKG2 family of human natural killer cell receptor genes. (PubMed id 9394807)1, 2, 9 Plougastel B. and Trowsdale J. (Eur. J. Immunol. 1997)
  3. Conservation and variation in human and common chimpanzee CD94 and NKG2 genes. (PubMed id 11751968)1, 2, 9 Shum B.P.... Parham P. (J. Immunol. 2002)
  4. Association of NKG2D genetic polymorphism with susceptibility to chronic hepatitis B in a Han Chinese population. (PubMed id 20648603)1, 4 Ma J....Liu Y. (J. Med. Virol. 2010)
  5. Scan of 977 nonsynonymous SNPs in CLL4 trial patients for the identification of genetic variants influencing prognosis. (PubMed id 18006695)1, 4 Sellick G.S....Houlston R.S. (Blood 2008)
  6. Identification of the NKG2D haplotypes associated with natural cytotoxic activity of peripheral blood lymphocytes and cancer immunosurveillance. (PubMed id 16397273)1, 4 Hayashi T....Nakachi K. (Cancer Res. 2006)
  7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
  8. The genomic organization of NKG2C, E, F, and D receptor genes in the human natural killer gene complex. (PubMed id 9683661)1, 2 Glienke J.... Francis F. (Immunogenetics 1998)
  9. Linkage of the NKG2 and CD94 receptor genes to D12S77 in the human natural killer gene complex. (PubMed id 9887346)1, 9 Sobanov Y....Hofer E. (Immunogenetics 1999)
  10. Genome-wide association analysis identifies new susceptibility loci for BehAset's disease and epistasis between HLA-B*51 and ERAP1. (PubMed id 23291587)1 Kirino Y....Kastner D.L. (Nat. Genet. 2013)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 8302 HGNC: 6377 AceView: KLRK1 Ensembl:ENSG00000183542 euGenes: HUgn8302
ECgene: KLRC4 Kegg: 8302 H-InvDB: KLRC4

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for KLRC4 Pharmacogenomics, SNPs, Pathways
ATLAS Chromosomes in Cancer entry for KLRC4 Genetics and Cytogenetics in Oncology and Haematology

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for KLRC4 gene:
Search GeneIP for patents involving KLRC4

GeneCards and IP:
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(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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 OriGene Antibodies for KLRC4   OriGene RNAi products in human, mouse, rat for KLRC4  
 OriGene qPCR primer pairs and template standards for KLRC4   OriGene Protein Over-expression Lysate for KLRC4  
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 Browse OriGene ORF clones   OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling  
 OriGene Custom Antibody Services for KLRC4   OriGene Custom Protein Services for KLRC4  

 
 
 Block miRNA regulation of human, mouse, rat KLRC4 using miScript Target Protectors SeqTarget long-range PCR primers for resequencing KLRC4
 DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat KLRC4 Predesigned siRNA for gene silencing in human, mouse, rat KLRC4
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 Custom PCR Arrays for KLRC4 Search Chromatin IP Primers for KLRC4
 Pre-validated RT2 qPCR Primer Assay in human, mouse / rat KLRC4  Search GeneGlobe Interaction Network for KLRC4
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 GenScript Custom Purified and Recombinant Proteins Services for KLRC4 GenScript cDNA clones with any tag delivered in your preferred vector for KLRC4
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 Search Tocris compounds for KLRC4 (NKG2F)
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 Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies

 Novus Tissue Slides
 KLRC4 antibodies
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 Search for Antibodies for KLRC4 at Abcam
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 Proteins for KLRC4
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 Browse ESI BIO Cell Lines and PureStem Progenitors for KLRC4
 Gene Synthesis
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 Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KLRC4
 Browse SwitchGear 3'UTR luciferase reporter plasmids for KLRC4
 Browse SwitchGear Promoter luciferase reporter plasmids for KLRC4
 ThermoFisher Antibodies for KLRC4
 Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat KLRC4
 inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for KLRC4
 inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for KLRC4
 LSBio Antibodies in human, mouse, rat for KLRC4
Customized transgenic rodents for:
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014

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