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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KIR2DL5A Gene

protein-coding   GIFtS: 45
GCID: GC19P9Q0450

Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long...

  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)
About This Section

Aliases
Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic
Tail, 5A1 2
     Killer Cell Immunoglobulin-Like Receptor 2DL5A2
KIR2DL52 3 5     Killer Cell Immunoglobulin-Like Receptor KIR2DL5A2
CD158F2 3     Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic
Tail, 52
KIR2DL5.12     Killer-Cell Ig-Like Receptor2
KIR2DL5.32     CD158F13
KIR2DL5B2     CD158f1 Antigen3

External Ids:    HGNC: 163451   Entrez Gene: 572922   OMIM: 6053055   UniProtKB: Q8N1093   

Export aliases for KIR2DL5A gene to outside databases

Previous GC identifers: GC19P9H0088 GC19P9I0086 GC19P9I0011 GC19P9I0013 GC19P9I0015 GC19P9I0017 GC19P9I0019


(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 KIR2DL5A 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. (provided by RefSeq, Jul 2008)

GeneCards Summary for KIR2DL5A Gene: 
KIR2DL5A (killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A) is a protein-coding gene. Diseases associated with KIR2DL5A include anterior uveitis, and spondyloarthropathy, and among its related super-pathways are Immune response Role of DAP12 receptors in NK cells and Allograft rejection.

UniProtKB/Swiss-Prot: KI2LA_HUMAN, Q8N109
Function: Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus
preventing cell lysis




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:NT_113949.1  
Regulatory elements:
   Search SABiosciences Regulatory transcription factor binding sites for KIR2DL5A
         Other transcription factors

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Epigenetics:
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Genomic Location:
Chromosome:19   

Entrez Gene cytogenetic band: 19p13.3   HGNC cytogenetic band: 19q13.4 GRCh37 novel patch

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P9Q0450:       (about GC identifiers)

Start:
450,949 bp from start of contig NW_003571055      End:
460,504 bp from start of contig NW_003571055
Size:
9,556 bases      Orientation:
plus strand

1 alternative location:
Chr19+,NT_113949 86,691-96,155     

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KI2LA_HUMAN, Q8N109 (See protein sequence)
Recommended Name: Killer cell immunoglobulin-like receptor 2DL5A precursor  
Size: 375 amino acids; 40678 Da
Subcellular location: Cell membrane; Single-pass type I membrane protein

Explore the universe of human proteins at neXtProt for KIR2DL5A: NX_Q8N109

KIR2DL5A Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --

REFSEQ proteins: NP_065396.1  
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Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane IEA--
GO:0016021integral to membrane IEA--

KIR2DL5A for ontologies           About GeneDecksing



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(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section
HGNC Gene Families: 
CD: CD molecules
KIR: Killer cell immunoglobulin-like receptors
IGD: Immunoglobulin superfamily / Immunoglobulin-like domain containing

3 InterPro protein domains:
 IPR003599 Ig_sub
 IPR013783 Ig-like_fold
 IPR013151 Immunoglobulin

Graphical View of Domain Structure for InterPro Entry Q8N109

ProtoNet protein and cluster: Q8N109

UniProtKB/Swiss-Prot: KI2LA_HUMAN, Q8N109
Similarity: Belongs to the immunoglobulin superfamily
Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains


KIR2DL5A 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,
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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

     UniProtKB/Swiss-Prot Summary: KI2LA_HUMAN, Q8N109
Function: Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus
preventing cell lysis

Phenotypes:
     1 GenomeRNAi human phenotype for KIR2DL5A:

 Cell cycle / mitosis defect 

Animal Models:
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(Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
About This Section

SuperPaths for KIR2DL5A About                                                                                                See pathways by source

SuperPathContained pathways About
1Immune response Fc epsilon RI pathway
Immune response Role of DAP12 receptors in NK cells0.32
Natural killer cell mediated cytotoxicity0.31
2Allograft rejection
Graft-versus-host disease0.65
Antigen processing and presentation0.37

Pathways by source                                                                                                                                                                 See SuperPaths
Show all pathways

1 EMD Millipore Pathway for KIR2DL5A
    Immune response Role of DAP12 receptors in NK cells


1 GeneGo (Thomson Reuters) Pathway for KIR2DL5A
    Immune response Role of DAP12 receptors in NK cells


3         Kegg Pathways  (Kegg details for KIR2DL5A):
    Antigen processing and presentation
Natural killer cell mediated cytotoxicity
Graft-versus-host disease


KIR2DL5A for pathways           About GeneDecksing

Interactions:

    Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for KIR2DL5A

2 Interacting proteins for KIR2DL5A (Q8N1093) via UniProtKB, MINT, STRING, and/or I2D
InteractantInteraction Details
GeneCardExternal ID(s)
PTPN11Q061243I2D: score=1 
PTPN6P293503I2D: score=1 
About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

KIR2DL5A for compounds           About GeneDecksing

Browse Small Molecules at EMD Millipore
Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for KIR2DL5A (KI2LA)

1 Novoseek inferred chemical compound relationship for KIR2DL5A gene    About this table
Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine 16.3 4 15187115 (1), 17371997 (1)

Search CenterWatch for drugs/clinical trials and news about KIR2DL5A / KI2LA

(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,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for KIR2DL5A gene: 
NM_020535.3  

Unigene Cluster for KIR2DL5A:

Killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 5A
Hs.740906
Unigene Representative Sequence: NM_001018081
miRNA
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Additional mRNA sequence: 

AF204903.1 AF217487.1 AF271607.1 AF271608.1 AJ544587.1 

1 DOTS entry:

DT.91758233 

7 AceView cDNA sequences:

NM_020535 AF204903 AJ544587 AF271607 AF217487 BV172480 AF271608 

GeneLoc Exon Structure


(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

KIR2DL5A expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TCCACATAAC
KIR2DL5A Expression
About this image


Genevestigator expression for KIR2DL5A

SOURCE GeneReport for Unigene cluster: Hs.740906
    SABiosciences Custom PCR Arrays for KIR2DL5A
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In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KIR2DL5A

(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

This gene was present in the common ancestor of mammals.

Orthologs for KIR2DL5A gene from 1 species (see representative species )    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
cow
(Bos taurus)
Mammalia KIR2DL5A1 killer cell immunoglobulin-like receptor, two domains, more 71.56(n)
56.88(a)
  282860  NM_174740.2  NP_777165.1 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for KIR2DL5A gene
18/47 SIMAP similar genes for KIR2DL5A using alignment to 2 protein entries:     KI2LA_HUMAN (see all proteins) (see all similar genes):
KIR2DL5B    KIR2DLX    KIR411    KIR2DL4    KIR-G1    KIR221
KIR-G2    p140    KIR2DL2    KIR2DL3    KIR2DP1DL1    KIR2DL1
KIR2DS2S3    NKAT2a-delta-Ig2    KIR2DS2    1060P11.7    KIR2DS1    KIR2DS3

KIR2DL5A 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) 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

Human Gene Mutation Database (HGMD): KIR2DL5A

Locus Specific Mutation Databases (LSDB): KIR2DL5A
SABiosciences Cancer Mutation PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing KIR2DL5A
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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section
OMIM gene information: 605305    OMIM disorders: --

20/32 diseases for KIR2DL5A (see all 32):    About MalaCards
anterior uveitis    spondyloarthropathy    leptospirosis    hepatitis b virus infection
ankylosing spondylitis    vogt-koyanagi-harada disease    tropical spastic paraparesis    spastic paraparesis
hematopoietic stem cell transplantation    uveitis    familial mediterranean fever    spondylitis
leprosy    behcet's disease    celiac disease    hepatitis b
graves' disease    spasticity    non-hodgkin lymphoma    gastritis


KIR2DL5A for disorders           About GeneDecksing

Genetic Association Database (GAD): KIR2DL5A
Human Genome Epidemiology (HuGE) Navigator: KIR2DL5A (85 documents)

Export disorders for KIR2DL5A 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)
About This Section

PubMed articles for KIR2DL5A gene, integrated from 9 sources (see all 96):
(articles sorted by number of sources associating them with KIR2DL5A)
    Utopia: connect your pdf to the dynamic
world of online information

  1. Some human KIR haplotypes contain two KIR2DL5 genes: KIR2DL5A and KIR2DL5B. (PubMed id 12185535)1, 2, 3, 9 Gomez-Lozano N.... Vilches C. (2002)
  2. Activating KIR genes are associated with ankylosing spondylitis in Asian populations. (PubMed id 18638658)1, 4, 9 Diaz-Pena R....Lopez-Larrea C. (2008)
  3. The beneficial impact of missing KIR ligands and abse nce of donor KIR2DS3 gene on outcome following unrelated hematopoietic SCT for myeloid leukemia in the Chinese population. (PubMed id 20173784)1, 4 Wu G.Q....Huang H. (2010)
  4. Natural killer cell receptor and HLA-C gene polymorph isms among patients with hepatitis C: a comparison between sustained virologica l responders and non-responders. (PubMed id 20456039)1, 4 Carneiro V.L....Lyra A.C. (2010)
  5. HLA-DQA1*0505 sharing and Killer Immunoglobulin-like receptors in sub fertile couples: report of the 15th International Histocompati bility Workshop. (PubMed id 20210919)1, 4 Varla-Leftherioti M....Spyropoulou-Vlachou M. (2010)
  6. Association of killer cell immunoglobulin-like recept or 2DL5 with systemic lupus erythematosus and accompanying infections. (PubMed id 20371502)1, 4 Kimoto Y....Harada M. (2010)
  7. Immunogenetic characteristics of patients with autoim mune gastritis. (PubMed id 20082482)1, 4 Oksanen A.M....Partanen J.A. (2010)
  8. Inhibitory KIR and specific HLA-C gene combinations c onfer susceptibility to or protection against chronic hepatitis B. (PubMed id 20643584)1, 4 Gao X....Zhao Y. (2010)
  9. Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection. (PubMed id 20878400)1, 4 Wauquier N....Vieillard V. (2010)
  10. Influence of HLA class I and HLA-KIR compound genotyp es on HIV-2 infection and markers of disease progression in a Manjako community in West Africa. (PubMed id 20519398)1, 4 Yindom L.M....Carrington M. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
 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)
About This Section
Entrez Gene: 57292 HGNC: 16345 AceView: KIR2DL5 euGenes: HUgn57292 ECgene: KIR2DL5A Kegg: 57292
H-InvDB: KIR2DL5A

(According to HUGE)
About This Section
  --

(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
NameDescription
PharmGKB entry for KIR2DL5A Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
About This Section
Patent Information for KIR2DL5A gene:
Search GeneIP for patents involving KIR2DL5A

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, 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, Animal models from inGenious Targeting Laboratory, genOway)
About This Section

 
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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