Human Gene KIR2DS4 (ENST00000339924.12) Description and Page Index
  Description: killer cell immunoglobulin like receptor, two Ig domains and short cytoplasmic tail 4 (from HGNC KIR2DS4)
RefSeq Summary (NM_012314): 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].
Gencode Transcript: ENST00000339924.12
Gencode Gene: ENSG00000221957.8
Transcript (Including UTRs)
   Position: hg38 chr19:54,832,676-54,848,569 Size: 15,894 Total Exon Count: 8 Strand: +
Coding Region
   Position: hg38 chr19:54,832,765-54,847,943 Size: 15,179 Coding Exon Count: 8 

Page IndexSequence and LinksMalaCardsCTDRNA-Seq ExpressionMicroarray Expression
RNA StructureOther SpeciesmRNA DescriptionsPathwaysOther NamesMethods
Data last updated at UCSC: 2021-01-14 15:32:12

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr19:54,832,676-54,848,569)mRNA (may differ from genome)Protein (297 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaBioGPS
CGAPEnsemblExonPrimerGeneCardsHGNCLynx
MGIPubMedWikipedia

-  MalaCards Disease Associations
  MalaCards Gene Search: KIR2DS4
Diseases sorted by gene-association score: craniofacial-deafness-hand syndrome (6), waardenburg's syndrome (4), birdshot chorioretinopathy (2)

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

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 2.85 RPKM in Whole Blood
Total median expression: 5.16 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.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -33.3089-0.374 Picture PostScript Text
3' UTR -139.23626-0.222 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  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    

-  Descriptions from all associated GenBank mRNAs
  AM851002 - Homo sapiens mRNA for killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3 gene), allele KIR2DS3*002EM6.
AF208054 - Homo sapiens non-inhibitory killer-cell Ig-like receptor KIR (KIR2DS5) mRNA, complete cds.
L76670 - Homo sapiens nkat7 mRNA, complete cds.
KJ904360 - Synthetic construct Homo sapiens clone ccsbBroadEn_13754 KIR2DS2 gene, encodes complete protein.
BC160061 - Synthetic construct Homo sapiens clone IMAGE:100063997, MGC:193176 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5 (KIR2DS5) mRNA, encodes complete protein.
BC108917 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2, mRNA (cDNA clone MGC:120018 IMAGE:40017299), complete cds.
BC126856 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2, mRNA (cDNA clone MGC:120020 IMAGE:40017301), complete cds.
LS974116 - Homo sapiens mRNA for KIR2DS5 protein (KIR2DS5 gene), isolate 82, allele Ins57bp_(Cry)_hKIR2DS5_00201.
BC125146 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2, mRNA (cDNA clone IMAGE:40120229), partial cds.
X97231 - H.sapiens mRNA for NK receptor, clone library 59C/K3.
FR750994 - Homo sapiens mRNA for killer-cell immunoglobulin-like receptor two domains short tail 2 protein precursor (KIR2DS2 gene), allele KIR2DS2*005.
BC119631 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2, mRNA (cDNA clone MGC:149477 IMAGE:40115568), complete cds.
BC119632 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2, mRNA (cDNA clone MGC:149478 IMAGE:40115570), complete cds.
L41347 - Homo sapiens natural killer-associated transcript 5 (NKAT5) mRNA, complete cds.
L76667 - Homo sapiens NKAT5-delta-Ig1/Ig2 mRNA, complete cds.
L76668 - Homo sapiens nkat5-delta-Ig1 mRNA, complete cds.
AY366243 - Homo sapiens natural killer cell inhibitory receptor (KIR2DS2) mRNA, KIR2DS2*00102 allele, complete cds.
BC156608 - Synthetic construct Homo sapiens clone IMAGE:100062036, MGC:190146 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 3 (KIR2DS3) mRNA, encodes complete protein.
AF022047 - Homo sapiens natural killer cell inhibitory receptor KIR2DS3 variant mRNA, complete cds.
AB528584 - Synthetic construct DNA, clone: pF1KB6699, Homo sapiens KIR2DS2 gene for killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2, without stop codon, in Flexi system.
AM409094 - Homo sapiens mRNA for killer-cell Ig-like receptor (KIR2DS2 gene), allele HSV9.
EF370407 - Homo sapiens nonfunctional killer cell Ig-like receptor (KIR2DS3) mRNA, complete sequence.
LS974081 - Homo sapiens mRNA for KIR2DS2 protein (KIR2DS2 gene), isolate 01, 10, allele Del51bp_(ex6)_hKIR2DS2_0010101.
X89893 - H.sapiens mRNA for NK receptor (183 ActI).
AJ002105 - Homo sapiens mRNA for NK receptor, clone library TG14#13.
AJ002102 - Homo sapiens mRNA for NK receptor, clone library TG14#8.
AJ002103 - Homo sapiens mRNA for NK receptor, clone library TG14#35.
AJ002104 - Homo sapiens mRNA for NK receptor, clone library TG14#6.
AF285439 - Homo sapiens clone KIR2DS2v2 killer-cell Ig-like receptor mRNA, complete cds.
AY366244 - Homo sapiens natural killer cell inhibitory receptor (KIR2DS2) mRNA, KIR2DS2*00103 allele, partial cds.
U24079 - Human p58 natural killer cell receptor precursor mRNA, clone cl-49, complete cds.
AY789063 - Homo sapiens natural killer cell inhibitory receptor (KIR2DS3) mRNA, KIR2DS3*002 allele, partial cds.
AF285438 - Homo sapiens clone KIR2DS2v1 killer-cell Ig-like receptor mRNA, partial cds.
AF135557 - Homo sapiens p58 killer cell inhibitory receptor KIR-K36 (KIR-K36) mRNA, partial cds.
AY366248 - Homo sapiens natural killer cell inhibitory receptor (KIR2DS5) mRNA, KIR2DS5*005 allele, complete cds.
X89892 - H.sapiens mRNA for NK receptor (Eb6 ActI).
AF022046 - Homo sapiens natural killer cell inhibitory receptor KIR2DS1 variant mRNA, complete cds.
BC166637 - Synthetic construct Homo sapiens clone IMAGE:100066363, MGC:195500 killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 1 (KIR2DS1) mRNA, encodes complete protein.
BC108918 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4, mRNA (cDNA clone MGC:120019 IMAGE:40017300), complete cds.
LS974114 - Homo sapiens mRNA for KIR2DS1 protein (KIR2DS1 gene), isolate 38, 82, allele Ins78bp_(Cry)_hKIR2DS1_00201.
LS974117 - Homo sapiens mRNA for KIR2DS1 protein (KIR2DS1 gene), isolate 82, allele Ins54bp_(Cry)_hKIR2DS1_00201.
BC096725 - Homo sapiens cDNA clone IMAGE:40026982, containing frame-shift errors.
AM999888 - Homo sapiens mRNA for killer-cell immunoglobulin-like receptor (KIR2DL1-KIR2DS1 hybrid gene), clone pCR4-TOPO_C9.
L76663 - Homo sapiens nkat2b mRNA, complete cds.
BC032422 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3, mRNA (cDNA clone MGC:39949 IMAGE:5220339), complete cds.
X98858 - H.sapiens mRNA for HLA-C specific activatory NK receptor.
AF074087 - Homo sapiens killer cell inhibitory receptor short form (KIR2DS2) mRNA, alternatively spliced, partial cds.
AF272389 - Homo sapiens natural killer cell immunoglobulin-like receptor (KIR2DS5) mRNA, partial cds.
AF285437 - Homo sapiens clone KIR2DS1v2 killer-cell Ig-like receptor mRNA, partial cds.
AK301140 - Homo sapiens cDNA FLJ56503 complete cds, highly similar to Killer cell immunoglobulin-like receptor 3DS1 precursor.
BC143618 - Homo sapiens cDNA clone IMAGE:9052131.
BC143616 - Homo sapiens cDNA clone IMAGE:9052129.
AF022044 - Homo sapiens natural killer cell receptor KIR3DS1 variant mRNA, complete cds.
BC098107 - Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1, mRNA (cDNA clone MGC:119726 IMAGE:40026977), complete cds.
BC098288 - Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1, mRNA (cDNA clone MGC:119728 IMAGE:40026980), complete cds.
BC105679 - Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1, mRNA (cDNA clone MGC:125316 IMAGE:40004313), complete cds.
L76661 - Homo sapiens nkat10 mRNA, complete cds.
KJ891514 - Synthetic construct Homo sapiens clone ccsbBroadEn_00908 KIR3DS1 gene, encodes complete protein.
KJ904495 - Synthetic construct Homo sapiens clone ccsbBroadEn_13889 KIR3DS1-like gene, encodes complete protein.
KJ904494 - Synthetic construct Homo sapiens clone ccsbBroadEn_13888 KIR2DS4-like gene, encodes complete protein.
EF582383 - Homo sapiens killer cell immunoglobulin-like receptor KIR3DS1 (KIR3DS1) mRNA, KIR3DS1-KRS1 allele, complete cds.
X97232 - H.sapiens mRNA for NK receptor, clone library D97.10.
U73396 - Human NK-receptor (KIR-123FM) mRNA, complete cds.
X97233 - H.sapiens mRNA for NK receptor, clone library C97.12#5.
EF370406 - Homo sapiens nonfunctional killer cell Ig-like receptor (KIR3DS1) mRNA, partial sequence.
AJ417558 - Homo sapiens partial mRNA for killer cell immunoglobulin receptor (KIR3DS1 gene), strain 4373.
BC144566 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4, mRNA (cDNA clone MGC:178111 IMAGE:9053094), complete cds.
BC171788 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4, mRNA (cDNA clone MGC:198503 IMAGE:9054442), complete cds.
X94609 - H.sapiens mRNA for activatory NK receptor/KKA3 p50.3.
AF002255 - Homo sapiens killer cell inhibitory receptor cl-17 mRNA, complete cds.
AY388472 - Homo sapiens natural killer cell Ig-like receptor KIR2DS4 (KIR2DS4) mRNA, KIR2DS4*00101 allele, complete cds.
AY366245 - Homo sapiens natural killer cell inhibitory receptor (KIR2DS4) mRNA, KIR2DS4*0010103 allele, complete cds.
BC127084 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4, mRNA (cDNA clone MGC:150419 IMAGE:40120468), complete cds.
JD394819 - Sequence 375843 from Patent EP1572962.
BC096694 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4, mRNA (cDNA clone MGC:119727 IMAGE:40026979), complete cds.
BC101977 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4, mRNA (cDNA clone MGC:125315 IMAGE:40004312), complete cds.
BC103693 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4, mRNA (cDNA clone MGC:125317 IMAGE:40004314), complete cds.
L76671 - Homo sapiens nkat8 mRNA, complete cds.
AY366246 - Homo sapiens natural killer cell inhibitory receptor (KIR2DS4) mRNA, KIR2DS4*004 allele, complete cds.
KJ905223 - Synthetic construct Homo sapiens clone ccsbBroadEn_14687 KIR2DS4-like gene, encodes complete protein.
AB590477 - Synthetic construct DNA, clone: pFN21AE2115, Homo sapiens KIR2DS4 gene for killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4, without stop codon, in Flexi system.
AY102623 - Homo sapiens KIR1D splice variant mRNA, complete cds.
LS974077 - Homo sapiens mRNA for KIR2DS4 protein (KIR2DS4 gene), isolate 85, allele Ins54bp_(Cry)_hKIR2DS4_00401.
LS974082 - Homo sapiens mRNA for KIR2DS4 protein (KIR2DS4 gene), isolate 02, 04, allele Del51bp_(ex6)_hKIR2DS4_0010101.
LS974107 - Homo sapiens mRNA for KIR2DS4 protein (KIR2DS4 gene), isolate 04, 85, allele Del294bp_(3-5ss)_hKIR2DS4_00101.
U24077 - Human p58 natural killer cell receptor precursor mRNA, clone cl-39, complete cds.
AY789064 - Homo sapiens truncated natural killer cell inhibitory receptor (KIR2DS4) mRNA, KIR2DS4*007 allele, partial cds.
BC125147 - Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4, mRNA (cDNA clone IMAGE:40120230), partial cds.
AJ417554 - Homo sapiens partial mRNA for killer cell immunoglobulin receptor (KIR2DS4 gene), strain 3321.
AJ417555 - Homo sapiens partial mRNA for killer cell immunoglobulin receptor (KIR2DS4 gene), strain 4053.
AJ620615 - Homo sapiens mRNA for truncated killer cell immunoglobulin-like receptor (KIR2DS4 gene), isolate B160(v2).
AJ620616 - Homo sapiens partial mRNA for truncated killer cell immunoglobulin-like receptor (KIR2DS4 gene), isolate B193(v1).
AF135563 - Homo sapiens p50 killer cell activating receptor KAR-K1a mRNA, alternatively spliced, partial cds.
AF135559 - Homo sapiens p58 killer cell inhibitory receptor KIR-K61 (KIR-K61) mRNA, partial cds.
AF135561 - Homo sapiens p58 killer cell inhibitory receptor KIR-K65 (KIR-K65) mRNA, partial cds.
AF135562 - Homo sapiens p58 killer cell inhibitory receptor KIR-K78 (KIR-K78) mRNA, partial cds.
AF135564 - Homo sapiens p50 killer cell activating receptor KAR-K1d mRNA, alternatively spliced, partial cds.
U96188 - Homo sapiens p50 cell activatory receptor NKR-K1 mRNA, partial cds.
AY102624 - Homo sapiens KIR1D mRNA, partial cds.
JD110111 - Sequence 91135 from Patent EP1572962.
JD098050 - Sequence 79074 from Patent EP1572962.
JD120841 - Sequence 101865 from Patent EP1572962.
JD038717 - Sequence 19741 from Patent EP1572962.
JD304256 - Sequence 285280 from Patent EP1572962.
JD364194 - Sequence 345218 from Patent EP1572962.
JD171693 - Sequence 152717 from Patent EP1572962.
JD353404 - Sequence 334428 from Patent EP1572962.
JD228897 - Sequence 209921 from Patent EP1572962.
JD237435 - Sequence 218459 from Patent EP1572962.
JD525272 - Sequence 506296 from Patent EP1572962.
JD291661 - Sequence 272685 from Patent EP1572962.
JD533385 - Sequence 514409 from Patent EP1572962.
JD063768 - Sequence 44792 from Patent EP1572962.
JD273310 - Sequence 254334 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

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000339924.1, ENST00000339924.10, ENST00000339924.11, ENST00000339924.2, ENST00000339924.3, ENST00000339924.4, ENST00000339924.5, ENST00000339924.6, ENST00000339924.7, ENST00000339924.8, ENST00000339924.9, U24077, uc061ctl.1
UCSC ID: ENST00000339924.12
RefSeq Accession: NM_012314

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