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KIR2DL1 (killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1)

Identity

Alias_nameskiller cell immunoglobulin-like receptor
Alias_symbol (synonym)cl-42
nkat1
47.11
p58.1
CD158A
Other aliasKIR-K64
KIR221
NKAT
NKAT-1
NKAT1
HGNC (Hugo) KIR2DL1
LocusID (NCBI) 3802
Atlas_Id 43665
Location 19q13.42  [Link to chromosome band 19q13]
Location_base_pair Starts at 55281265 and ends at 55295778 bp from pter ( according to hg19-Feb_2009)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)KIR2DL1   6329
Cards
Entrez_Gene (NCBI)KIR2DL1  3802  killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 1
AliasesCD158A; KIR-K64; KIR221; NKAT; 
NKAT-1; NKAT1; p58.1
GeneCards (Weizmann)KIR2DL1
Ensembl hg19 (Hinxton)ENSG00000125498 [Gene_View]  chr19:55281265-55295778 [Contig_View]  KIR2DL1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000125498 [Gene_View]  chr19:55281265-55295778 [Contig_View]  KIR2DL1 [Vega]
ICGC DataPortalENSG00000125498
TCGA cBioPortalKIR2DL1
AceView (NCBI)KIR2DL1
Genatlas (Paris)KIR2DL1
WikiGenes3802
SOURCE (Princeton)KIR2DL1
Genetics Home Reference (NIH)KIR2DL1
Genomic and cartography
GoldenPath hg19 (UCSC)KIR2DL1  -     chr19:55281265-55295778 +  19q13.42   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KIR2DL1  -     19q13.42   [Description]    (hg38-Dec_2013)
EnsemblKIR2DL1 - 19q13.42 [CytoView hg19]  KIR2DL1 - 19q13.42 [CytoView hg38]
Mapping of homologs : NCBIKIR2DL1 [Mapview hg19]  KIR2DL1 [Mapview hg38]
OMIM604936   
Gene and transcription
Genbank (Entrez)AF022045 AF135560 AF285431 AF285432 AY366237
RefSeq transcript (Entrez)NM_014218
RefSeq genomic (Entrez)NC_000019 NC_018930 NG_005994 NT_011109 NT_187636 NT_187637 NT_187639 NT_187640 NT_187641 NT_187643 NT_187645 NT_187668 NT_187669 NT_187671 NT_187672 NT_187673 NT_187674 NT_187675 NT_187676 NT_187683 NT_187684 NT_187685 NT_187686 NT_187687 NT_187693 NW_003571054 NW_003571055 NW_003571060 NW_004929415
Consensus coding sequences : CCDS (NCBI)KIR2DL1
Cluster EST : UnigeneHs.690615 [ NCBI ]
CGAP (NCI)Hs.690615
Alternative Splicing GalleryENSG00000125498
Gene ExpressionKIR2DL1 [ NCBI-GEO ]   KIR2DL1 [ EBI - ARRAY_EXPRESS ]   KIR2DL1 [ SEEK ]   KIR2DL1 [ MEM ]
Gene Expression Viewer (FireBrowse)KIR2DL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3802
GTEX Portal (Tissue expression)KIR2DL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP43626   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP43626  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP43626
Splice isoforms : SwissVarP43626
PhosPhoSitePlusP43626
Domains : Interpro (EBI)Ig-like_dom    Ig-like_fold    Ig_sub    Immunoglobulin   
Domain families : Pfam (Sanger)ig (PF00047)   
Domain families : Pfam (NCBI)pfam00047   
Domain families : Smart (EMBL)IG (SM00409)  
Conserved Domain (NCBI)KIR2DL1
DMDM Disease mutations3802
Blocks (Seattle)KIR2DL1
PDB (SRS)1IM9    1NKR   
PDB (PDBSum)1IM9    1NKR   
PDB (IMB)1IM9    1NKR   
PDB (RSDB)1IM9    1NKR   
Structural Biology KnowledgeBase1IM9    1NKR   
SCOP (Structural Classification of Proteins)1IM9    1NKR   
CATH (Classification of proteins structures)1IM9    1NKR   
SuperfamilyP43626
Human Protein AtlasENSG00000125498
Peptide AtlasP43626
HPRD12000
IPIIPI00302335   IPI00956579   IPI00956560   IPI00956195   IPI00930565   IPI00655598   IPI00451617   IPI00956607   IPI00893038   
Protein Interaction databases
DIP (DOE-UCLA)P43626
IntAct (EBI)P43626
FunCoupENSG00000125498
BioGRIDKIR2DL1
STRING (EMBL)KIR2DL1
ZODIACKIR2DL1
Ontologies - Pathways
QuickGOP43626
Ontology : AmiGOnatural killer cell inhibitory signaling pathway  receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  immune response  regulation of immune response  
Ontology : EGO-EBInatural killer cell inhibitory signaling pathway  receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  immune response  regulation of immune response  
Pathways : KEGGAntigen processing and presentation    Natural killer cell mediated cytotoxicity    Graft-versus-host disease   
NDEx NetworkKIR2DL1
Atlas of Cancer Signalling NetworkKIR2DL1
Wikipedia pathwaysKIR2DL1
Orthology - Evolution
OrthoDB3802
GeneTree (enSembl)ENSG00000125498
Phylogenetic Trees/Animal Genes : TreeFamKIR2DL1
HOVERGENP43626
HOGENOMP43626
Homologs : HomoloGeneKIR2DL1
Homology/Alignments : Family Browser (UCSC)KIR2DL1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerKIR2DL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KIR2DL1
dbVarKIR2DL1
ClinVarKIR2DL1
1000_GenomesKIR2DL1 
Exome Variant ServerKIR2DL1
ExAC (Exome Aggregation Consortium)KIR2DL1 (select the gene name)
Genetic variants : HAPMAP3802
Genomic Variants (DGV)KIR2DL1 [DGVbeta]
DECIPHER (Syndromes)19:55281265-55295778  ENSG00000125498
CONAN: Copy Number AnalysisKIR2DL1 
Mutations
ICGC Data PortalKIR2DL1 
TCGA Data PortalKIR2DL1 
Broad Tumor PortalKIR2DL1
OASIS PortalKIR2DL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKIR2DL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDKIR2DL1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch KIR2DL1
DgiDB (Drug Gene Interaction Database)KIR2DL1
DoCM (Curated mutations)KIR2DL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KIR2DL1 (select a term)
intoGenKIR2DL1
Cancer3DKIR2DL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604936   
Orphanet
MedgenKIR2DL1
Genetic Testing Registry KIR2DL1
NextProtP43626 [Medical]
TSGene3802
GENETestsKIR2DL1
Huge Navigator KIR2DL1 [HugePedia]
snp3D : Map Gene to Disease3802
BioCentury BCIQKIR2DL1
ClinGenKIR2DL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3802
Chemical/Pharm GKB GenePA30114
Clinical trialKIR2DL1
Miscellaneous
canSAR (ICR)KIR2DL1 (select the gene name)
Probes
Litterature
PubMed141 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKIR2DL1
EVEXKIR2DL1
GoPubMedKIR2DL1
iHOPKIR2DL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:11:56 CET 2017

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