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

KIR2DL5A Gene

protein-coding   GIFtS: 50
GCID: GC19P9I0019

killer cell immunoglobulin-like receptor, two domains, long...

 Explore 31 diseases affiliated with
KIR2DL5A via our new
 Human Malady Compendium 
Biological research products
for KIR2DL5A
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic
Tail, 5A1 2
     Killer Cell Immunoglobulin-Like Receptor 2DL5A2
KIR2DL51 2 3 5     Killer Cell Immunoglobulin-Like Receptor KIR2DL5A2
CD158F1 2 3     Killer Cell Immunoglobulin-Like Receptor, Two Domains, Long Cytoplasmic Tail, 52
KIR2DL5.11 2     Killer-Cell Ig-Like Receptor2
KIR2DL5.32     CD158F13
KIR2DL5B2     CD158f1 Antigen3

External Ids:    HGNC: 163451   Entrez Gene: 572922   Ensembl: ENSG000002157647   OMIM: 6053055   UniProtKB: Q8N1093   

Export aliases for KIR2DL5A gene to outside databases

Previous GC identifers: GC19P9H0088 GC19P9I0086 GC19P9I0011 GC19P9I0013 GC19P9I0015 GC19P9I0017


(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:
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)

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 69), 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

Browse SwitchGear Promoter luciferase reporter plasmids
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Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIR2DL5A


Genomic Location:
Chromosome:19   

Entrez Gene cytogenetic band: 19p13.3   Ensembl cytogenetic band:  19_GL000209.1   HGNC cytogenetic band: 19q13.4 GRCh37 novel patch

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19P9I0019:  view genomic region     (about GC identifiers)

Start:
86,691 bp from start of contig NT_113949      End:
96,155 bp from start of contig NT_113949
Size:
9,465 bases      Orientation:
plus strand

1 alternative location:
Chr19+,GL000209.1 7,891-96,246     

(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: 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 MOPED and PaxDb:    About this image 

Estimated protein expression log10 (pmol).

REFSEQ proteins: NP_065396.1  
ENSEMBL proteins: 
 ENSP00000375611   ENSP00000383672   ENSP00000383645   ENSP00000383649   ENSP00000343498  
 ENSP00000383652   ENSP00000383651   ENSP00000383650   ENSP00000383646   ENSP00000383644  

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Uscn Proteins for KIR2DL5A

Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0005886plasma membrane IEA--
GO:0005887integral to plasma membrane ----
GO:0016021integral to membrane IEA--


KIR2DL5A for ontologies           About GeneDecksing



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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

KIR2DL5A for domains           About GeneDecksing

3 InterPro domains/families:
 IPR013783 Ig-like_fold
 IPR003599 Ig_sub
 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


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

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Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0004872receptor activity ----
GO:0004888transmembrane signaling receptor activity ----
GO:0005515protein binding ----
GO:0032393MHC class I receptor activity ----


KIR2DL5A for ontologies           About GeneDecksing


1 GenomeRNAi human phenotype for KIR2DL5A:
 Cell cycle / mitosis defect 


(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-pathwaycontained gene-specific pathways
1Allograft rejection
Graft-versus-host disease0.63
Antigen processing and presentation0.25
2Immune response CD16 signaling in NK cells
Immune response Role of DAP12 receptors in NK cells0.32
Immune response_Role of DAP12 receptors in NK cells0.32
3Natural killer cell mediated cytotoxicity
Natural killer cell mediated cytotoxicity1.00

Pathway sources
See GeneCards unified pathways
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

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

5/10 Interacting proteins for KIR2DL5A (Q8N1093 ENSP000003836454) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
InteractantInteraction Details
GeneCardExternal ID(s)
PTPN11Q061243, ENSP000003409444I2D: score=1 STRING: ENSP00000340944
PTPN6P293503, ENSP000003915924I2D: score=1 STRING: ENSP00000391592
HLA-CENSP000003654024STRING: ENSP00000365402
FCER1GENSP000002899024STRING: ENSP00000289902
HLA-BENSP000003991684STRING: ENSP00000399168
About this table

Gene Ontology (GO): 5 biological process terms (GO ID links to tree view):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006955immune response ----
GO:0006968cellular defense response ----
GO:0007165signal transduction ----
GO:0030101natural killer cell activation ----
GO:0050776regulation of immune response ----


KIR2DL5A for ontologies           About GeneDecksing



(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

KIR2DL5A for compounds           About GeneDecksing

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

Browse Tocris compounds for KIR2DL5A
1 Novoseek 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 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,
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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 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
10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000391731 ENST00000400875(uc010euy.2) ENST00000400847 ENST00000400851(uc002qtv.3 uc010evf.3)
ENST00000344867(uc002qtt.2 uc002qts.2) ENST00000400854(uc010evd.3 uc002quc.4)
ENST00000400853(uc002qud.4) ENST00000400852(uc002quh.4 uc002que.4 uc002quf.4 uc010eve.3 uc002qug.4)
ENST00000400848(uc010yic.2 uc021vdb.1 uc010yie.2 uc010evg.1 uc010evh.1 uc002qui.2)
ENST00000400846(uc002quk.1)

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Additional cDNA sequence: 

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

1 DOTS entry:

DT.91758233 

7 AceView cDNA sequences:

AF204903 NM_020535 AF271607 AF217487 BV172480 AF271608 AJ544587 

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
CGAP TAG: TCCACATAAC

Microarray
RNAseq (Illumina Body Map)
(100×FPKM)½
SAGE (Serial Analysis of Gene Expression)

About this image
See KIR2DL5A Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIR2DL5A

SOURCE GeneReport for Unigene cluster: Hs.740906
    SABiosciences Custom PCR Arrays for KIR2DL5A
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In Situ
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Search Advanced Cell Diagnostics for 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 chordates.

Orthologs for KIR2DL5A gene from 2/7 species (see all 7)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
chicken
(Gallus gallus)
Aves --
--
(see all 59)
--
25(a)
24(a)
(see all 59)
many ↔ many
many ↔ many
(see all 59)
Un(51843257-51844123)
Un(7502858-7503788)
lizard
(Anolis carolinensis)
Reptilia --
--
(see all 3)
--
17(a)
15(a)
(see all 3)
many ↔ many
many ↔ many
(see all 3)
GL343329.1(1231914-1234163)
GL343329.1(823590-844642)


ENSEMBL Gene Tree for KIR2DL5A (if available)
TreeFam Gene Tree for KIR2DL5A (if available) 

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
Paralogs for KIR2DL5A gene
KIR2DL42  LILRB42  LILRB12  LILRA62  IGSF12  LILRA52  KIR3DL12  OSCAR2  
NCR12  LILRA42  ENSG000002177922  TARM12  KIR3DX12  LILRA32  LILRB52  LILRA12  
KIR3DL32  KIR2DL12  LILRB22  A1BG2  LILRA22  KIR3DL22  KIR2DL32  FCAR2  
LILRB32  GP62  
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    KIR-G1    KIR2DL4    KIR221
KIR-G2    p140    KIR2DL2    KIR2DL3    KIR2DL1    NKAT2a-delta-Ig2
KIR2DS2    1060P11.7    KIR2DS1    KIR2DS3    KIR2DS5    KIR2DS4

KIR2DL5A for paralogs           About GeneDecksing



(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

Human Gene Mutation Database (HGMD): KIR2DL5A

Locus Specific Mutation Databases (LSDB): KIR2DL5A
SABiosciences Cancer Mutation PCR Assays
Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing KIR2DL5A
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(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.)
About This Section

KIR2DL5A for disorders           About GeneDecksing

OMIM gene information: 605305    OMIM disorders: --

20/31 diseases for KIR2DL5A (see all 31):    About MalaCards
vogt-koyanagi-harada disease    tropical spastic paraparesis    graft versus host disease    spastic paraparesis
familial mediterranean fever    non-hodgkin lymphoma    anterior uveitis    spontaneous abortion
ankylosing spondylitis    systemic lupus erythematosus    lupus erythematosus    hodgkin's lymphoma
spasticity    uveitis    spondylitis    leptospirosis
spondyloarthropathy    behcet's disease    celiac disease    graves' disease

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 94):
(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. Genetic polymorphisms of killer cell immunoglobulin-like receptors are associated with susceptibility to psoriasis vulgaris. (PubMed id 15140215)1, 4 Suzuki Y....Muto M. (2004)
  3. Analysis of candidate genes on chromosome 19 in coeliac disease: an association study of the KIR and LILR gene clusters. (PubMed id 12121272)1, 4 Moodie S.J....Ciclitira P.J. (2002)
  4. Gene structure and promoter variation of expressed and nonexpressed variants of the KIR2DL5 gene. (PubMed id 11086080)1, 3 Vilches C.... Parham P. (2000)
  5. Human KIR2DL5 is an inhibitory receptor expressed on the surface of NK and T lymphocyte subsets. (PubMed id 17371997)1, 9 Estefania E....Vilches C. (2007)
  6. KIR2DL5 can inhibit human NK cell activation via recruitment of Src homology region 2-containing protein tyrosine phosphatase-2 (SHP-2). (PubMed id 15187115)1, 9 Yusa S....Campbell K.S. (2004)
  7. Activating KIR genes are associated with ankylosing spondylitis in Asian populations. (PubMed id 18638658)1, 9 Diaz-Pena R....Lopez-Larrea C. (2008)
  8. Killer-cell immunoglobulin-like receptors (KIR) in sev ere A (H1N1) 2009 influenza infections. (PubMed id 22652695)1 Aranda-Romo S....Noyola D.E. (2012)
  9. 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 Wu G.Q....Huang H. (2010)
  10. 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 Carneiro V.L....Lyra A.C. (2010)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 57292 HGNC: 16345 AceView: KIR2DL5 Ensembl:ENSG00000215764 euGenes: HUgn57292
ECgene: KIR2DL5A Kegg: 57292 H-InvDB: KIR2DL5A

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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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.)
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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, 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),
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