Human Gene KIR2DL4 (ENST00000396293.5) Description and Page Index
  Description: Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis. (from UniProt Q99706)
RefSeq Summary (NM_001080770): 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. This gene is one of the 'framework' loci that is present on all haplotypes. Alternate alleles of this gene are represented on multiple alternate reference loci (ALT_REF_LOCs). Alternative splicing results in multiple transcript variants, some of which may not be annotated on the primary reference assembly. [provided by RefSeq, Jul 2016].
Gencode Transcript: ENST00000396293.5
Gencode Gene: ENSG00000189013.14
Transcript (Including UTRs)
   Position: hg38 chr19:54,803,641-54,814,122 Size: 10,482 Total Exon Count: 5 Strand: +
Coding Region
   Position: hg38 chr19:54,803,652-54,814,111 Size: 10,460 Coding Exon Count: 5 

Page IndexSequence and LinksUniProtKB CommentsMalaCardsCTDRNA-Seq Expression
Microarray ExpressionProtein StructureOther SpeciesGO AnnotationsmRNA DescriptionsPathways
Other NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:54,803,641-54,814,122)mRNA (may differ from genome)Protein (230 aa)
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Wikipedia

-  Comments and Description Text from UniProtKB
  ID: KI2L4_HUMAN
DESCRIPTION: RecName: Full=Killer cell immunoglobulin-like receptor 2DL4; AltName: Full=CD158 antigen-like family member D; AltName: Full=G9P; AltName: Full=Killer cell inhibitory receptor 103AS; Short=KIR-103AS; AltName: Full=MHC class I NK cell receptor KIR103AS; AltName: CD_antigen=CD158d; Flags: Precursor;
FUNCTION: Receptor on natural killer (NK) cells for HLA-C alleles. Inhibits the activity of NK cells thus preventing cell lysis.
SUBUNIT: Interacts with ARRB2.
SUBCELLULAR LOCATION: Cell membrane; Single-pass type I membrane protein.
SIMILARITY: Belongs to the immunoglobulin superfamily.
SIMILARITY: Contains 2 Ig-like C2-type (immunoglobulin-like) domains.

-  MalaCards Disease Associations
  MalaCards Gene Search: KIR2DL4
Diseases sorted by gene-association score: duane retraction syndrome (5)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 3.59 RPKM in Spleen
Total median expression: 8.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR013783 - Ig-like_fold
IPR003599 - Ig_sub
IPR013151 - Immunoglobulin

Pfam Domains:
PF00047 - Immunoglobulin domain

ModBase Predicted Comparative 3D Structure on Q99706
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-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologGenome BrowserNo orthologNo orthologNo orthologNo ortholog
      
      
 RGD    
 Protein Sequence    
 Alignment    

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004888 transmembrane signaling receptor activity
GO:0005515 protein binding

Biological Process:
GO:0006968 cellular defense response
GO:0007165 signal transduction
GO:0050776 regulation of immune response

Cellular Component:
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane


-  Descriptions from all associated GenBank mRNAs
  AY601812 - Homo sapiens natural killer cell immunoglobulin-like receptor (KIR2DL4) mRNA, complete cds.
AK309531 - Homo sapiens cDNA, FLJ99572.
AK310066 - Homo sapiens cDNA, FLJ17108.
BC041611 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4, mRNA (cDNA clone MGC:52132 IMAGE:5485491), complete cds.
BC028137 - Homo sapiens cDNA clone IMAGE:5215399, containing frame-shift errors.
AF285436 - Homo sapiens clone KIR2DL4v4 killer-cell Ig-like receptor mRNA, complete cds.
AF002980 - Homo sapiens killer cell receptor (KIR103) mRNA, allele AS, complete cds.
AF002981 - Homo sapiens killer cell receptor (KIR103) mRNA, allele ASD1, complete cds.
AF002982 - Homo sapiens killer cell receptor (KIR103) mRNA, allele ASD2, complete cds.
U71199 - Human natural killer cell receptor (KIR) mRNA, complete cds.
U73394 - Human NK-receptor (KIR-103AST) mRNA, complete cds.
AY359817 - Homo sapiens KIR2DL4 mRNA, complete cds.
AF034771 - Homo sapiens natural killer cell inhibitory receptor (KIR2DL4) mRNA, variant 1, complete cds.
AF034772 - Homo sapiens natural killer cell inhibitory receptor (KIR2DL4) mRNA, variant 2, complete cds.
AF034773 - Homo sapiens natural killer cell inhibitory receptor (KIR2DL4) mRNA, variant 3, complete cds.
X99480 - H.sapiens mRNA for NK receptor, clone NK3.3 #27.
X99481 - H.sapiens mRNA for NK receptor, clone GR #19.
X97229 - H.sapiens mRNA for NK receptor, clone library 15.212.
AB529218 - Synthetic construct DNA, clone: pF1KB6560, Homo sapiens KIR3DL3 gene for killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3, without stop codon, in Flexi system.
HQ448395 - Synthetic construct Homo sapiens clone IMAGE:100071822; CCSB013581_04 killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4) gene, encodes complete protein.
KJ897094 - Synthetic construct Homo sapiens clone ccsbBroadEn_06488 KIR2DL4 gene, encodes complete protein.
DQ266438 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4) mRNA, complete cds.
AF276292 - Homo sapiens killer cell immunoglobulin-like receptor KIR2DL4 mRNA, complete cds.
EU194340 - Homo sapiens KIR2DL4 (KIR2DL4) mRNA, KIR2DL4*0501 variant 1 allele, complete cds.
EU194342 - Homo sapiens KIR2DL4 (KIR2DL4) mRNA, KIR2DL4*0501 variant 2 allele, complete cds.
LS974091 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 82, allele Del105bp_(ex7)_hKIR2DL4_00501.
LS974092 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 02, 82, allele Del104bp_(ex7)_hKIR2DL4_00801.
LS974093 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 02, 07, allele Del155bp_(ex6+7)_hKIR2DL4_00802.
LS974095 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 00, 02, allele Del156bp_(ex6+7)_hKIR2DL4_00201.
LS974096 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 06, allele Del209bp_(ex6+7+8)_hKIR2DL4_00101.
LS974097 - Homo sapiens mRNA for KIR2DL4_00201 protein (KIR2DL4_00201 gene), isolate 02, allele Del158bp_(ex7+8)_hKIR2DL4_00201.
LS974101 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 82, 85, allele Ins67bp_(5ss)_hKIR2DL4_00801.
LS974103 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 04, 06, allele Del66bp_(5ss)_hKIR2DL4_00102.
LS974104 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 04, 06, allele Del74bp_(5ss)_hKIR2DL4_00102.
LS974105 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 07, allele Del73bp_(5ss)_hKIR2DL4_00801.
LS974106 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 07, allele Del198bp_(5ss)_hKIR2DL4_00201.
Y13054 - Homo sapiens mRNA for NK receptor, clone GR #29.
AF002979 - Homo sapiens killer cell receptor (KIR103) mRNA, allele LP, complete cds.
X99479 - H.sapiens mRNA for NK receptor, clone 12.11C.
AF002256 - Homo sapiens killer cell inhibitory receptor homolog cl-9 mRNA, complete cds.
AY789058 - Homo sapiens natural killer cell inhibitory receptor (KIR2DL4) mRNA, KIR2DL4*00103 allele, complete cds.
AY789059 - Homo sapiens natural killer cell inhibitory receptor (KIR2DL4) mRNA, KIR2DL4*00105 allele, complete cds.
AY789060 - Homo sapiens truncated natural killer cell inhibitory receptor (KIR2DL4) mRNA, KIR2DL4*00801 allele, complete cds.
AY789061 - Homo sapiens truncated natural killer cell inhibitory receptor (KIR2DL4) mRNA, KIR2DL4*011 allele, complete cds.
AY789062 - Homo sapiens natural killer cell inhibitory receptor (KIR2DL4) mRNA, KIR2DL4*00602 allele, complete cds.
LS974080 - Homo sapiens mRNA for KIR2DL4 protein (KIR2DL4 gene), isolate 85, allele Del51bp_(ex6)_hKIR2DL4_00202.
EU194341 - Homo sapiens KIR2DL4 (KIR2DL4) mRNA, KIR2DL4*00103 variant allele, partial cds.
AY223512 - Homo sapiens truncated natural killer cell receptor (KIR2DL4) mRNA, KIR2DL4-9A allele, partial cds.
AY223513 - Homo sapiens clone 11.5 natural killer cell receptor (KIR2DL4) mRNA, KIR2DL4-10A allele, partial cds.
AY223514 - Homo sapiens clone 11.6 truncated natural killer cell receptor (KIR2DL4) mRNA, KIR2DL4-10A allele, partial cds.
AY223515 - Homo sapiens clone 5.5 natural killer cell receptor (KIR2DL4) mRNA, KIR2DL4-9A allele, partial cds.
AY250088 - Homo sapiens clone 3.1a natural killer cell recpetor (KIR2DL4) mRNA, partial cds.
DQ272466 - Homo sapiens killer cell immunoglobulin-like receptor 2DL4 10A-B mRNA, partial cds.
AY052496 - Homo sapiens truncated NK cell receptor (KIR2DL4) mRNA, KIR2DL4-9A allele, partial cds.
AY052497 - Homo sapiens NK cell receptor (KIR2DL4) mRNA, KIR2DL4-9A allele, partial cds.
AY052498 - Homo sapiens NK cell receptor (KIR2DL4) mRNA, KIR2DL4-10A allele, partial cds.
JD098050 - Sequence 79074 from Patent EP1572962.
JD364194 - Sequence 345218 from Patent EP1572962.

-  Biochemical and Signaling Pathways
  KEGG - Kyoto Encyclopedia of Genes and Genomes
hsa04612 - Antigen processing and presentation
hsa04650 - Natural killer cell mediated cytotoxicity

Reactome (by CSHL, EBI, and GO)

Protein Q99706 (Reactome details) participates in the following event(s):

R-HSA-199579 KIR2DL4 interacting with HLA-G
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-1280218 Adaptive Immune System
R-HSA-168256 Immune System

-  Other Names for This Gene
  Alternate Gene Symbols: A8W795, AY359817, CD158D, ENST00000396293.1, ENST00000396293.2, ENST00000396293.3, ENST00000396293.4, KI2L4_HUMAN, KIR103AS, O14621, O14622, O14623, O14624, O43534, P78400, P78401, Q8N738, Q99559, Q99560, Q99561, Q99562, Q99706, Q9UQJ7, uc061cth.1
UCSC ID: ENST00000396293.5
RefSeq Accession: NM_001080770
Protein: Q99706 (aka KI2L4_HUMAN or K2L4_HUMAN)

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.