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KIR2DS2 Gene

protein-coding GIFtS: 45
GCID: GC19P9W0464

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

See KIR2DS2-related diseases
at

MalaCards

(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, Short Cytoplasmic Tail, 2¹ ²		183ActI²
NKAT5² ³ ⁵		CD158b²
Natural Killer-Associated Transcript 5² ³		cl-49²
CD158J² ³		Killer Cell Immunoglobulin-Like Receptor 2DS2²
NKAT-5² ³		Killer-Cell Ig-Like Receptor²
CD158 Antigen-Like Family Member J² ³		Killer-Cell Immunoglobulin-Like Receptor Two Domains Short Tail 2 Protein²
MHC Class I NK Cell Receptor² ³		Natural Killer Associated Transcript 5²
NK Receptor 183 ActI² ³		Natural Killer Cell Inhibitory Receptor²
P58 Natural Killer Cell Receptor Clone CL-49² ³		P58 Killer Cell Inhibitory Receptor KIR-K7a²
P58 NK Receptor CL-49² ³		P58 KIR²
1060P11.9.2²		CD158j Antigen³

External Ids:	HGNC: 6334¹	Entrez Gene: 100132285²	OMIM: 604953⁵	UniProtKB: P43631³

Export aliases for KIR2DS2 gene to outside databases

Previous GC identifers: GC19P055513 GC19P9D0131 GC19P9F0131 GC00P9Q0131 GC19P9H0009 GC19P9H0131 GC19P059936 GC19P9I0131 GC19U900901 GC19P055237

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KIR2DS2 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 KIR2DS2 Gene:

KIR2DS2 (killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2) is a protein-coding gene. Diseases associated with KIR2DS2 include type 1 diabetes mellitus, and cytomegalovirus infection. GO annotations related to this gene include transmembrane signaling receptor activity.

UniProtKB/Swiss-Prot: KI2S2_HUMAN, P43631

Function: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells

(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence at NCBI GenBank:

NT_187640.1 NT_187668.1 NT_187686.1 NT_187636.1 NT_187675.1

Regulatory elements:

Search for regulatory transcription factor binding sites for KIR2DS2
Other transcription factors

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Epigenetics:

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Genomic Location:
Chromosome:19

Entrez Gene cytogenetic band: 19q13.4 HGNC cytogenetic band: 19q13.4 alternate reference locus

GeneLoc information about chromosome 19 GeneLoc Exon Structure

GeneLoc location for GC19P9W0464: (about GC identifiers)

Start:	464,497 bp from start of contig NW_003571061	End:	478,866 bp from start of contig NW_003571061
Size:	14,370 bases	Orientation:	plus strand

1 alternative location:

Chr19+,NT_113949 131,449-145,745

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
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About This Section

UniProtKB/Swiss-Prot: KI2S2_HUMAN, P43631 (See protein sequence)

Recommended Name: Killer cell immunoglobulin-like receptor 2DS2 precursor

Size: 304 amino acids; 33502 Da

Sequence caution: Sequence=AAC50338.1; Type=Erroneous initiation;

1 PDB 3D structure from and Proteopedia for KIR2DS2:

1M4K (3D)

Secondary accessions: Q14955 Q6H2G9

Explore the universe of human proteins at neXtProt for KIR2DS2: NX_P43631

Post-translational modifications:

Glycosylation² at Asn84, Asn178, Asn211

Modification sites at PhosphoSitePlus

REFSEQ proteins: NP_036444.1 Reactome Protein details: P43631

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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 P43631

ProtoNet protein and cluster: P43631

1 Blocks protein domain: IPB003599 Immunoglobulin subtype

UniProtKB/Swiss-Prot: KI2S2_HUMAN, P43631

Similarity: Belongs to the immunoglobulin superfamily

Similarity: Contains 2 Ig-like C2-type (immunoglobulin-like) domains

Find genes that share domains with KIR2DS2 About GenesLikeMe

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: KI2S2_HUMAN, P43631

Function: Receptor on natural killer (NK) cells for HLA-C alleles. Does not inhibit the activity of NK cells

Genatlas biochemistry entry for KIR2DS2:

natural killer cell immunoglobulin-like activating receptor for HLA-C antigens,2DS2,with alternatively spliced

(truncated) forms

Gene Ontology (GO): 1 molecular function term: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004888	transmembrane signaling receptor activity	NAS	8627176

Find genes that share ontologies with KIR2DS2 About GenesLikeMe

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(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
About This Section

Subcellular locations from UniProtKB/Swiss-Prot

KI2S2_HUMAN, P43631: Cell membrane; Single-pass type I membrane protein

Gene Ontology (GO): 2 cellular component terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0016021	integral component of membrane	NAS	8627176

Find genes that share ontologies with KIR2DS2 About GenesLikeMe

(SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
About This Section

SuperPaths for KIR2DS2 About

See pathways by source

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SuperPath

Contained pathways About

Immune response Role of DAP12 receptors in NK cells

Immune response Role of DAP12 receptors in NK cells

0.32

Natural killer cell mediated cytotoxicity

0.31

Allograft rejection

Antigen processing and presentation

0.36

Find genes that share SuperPaths with KIR2DS2 About GenesLikeMe

Pathways by source See SuperPaths
Show all pathways

1 GeneGo (Thomson Reuters) Pathway for KIR2DS2

Immune response Role of DAP12 receptors in NK cells

2 Reactome Pathways for KIR2DS2

	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
	DAP12 interactions

2 Kegg Pathways (Kegg details for KIR2DS2):

	Antigen processing and presentation
	Natural killer cell mediated cytotoxicity

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Interactions:

GeneGlobe Interaction Network for KIR2DS2

2 Interacting proteins for KIR2DS2 (P43631³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HLA-C	P10321³	I2D: score=2
TYROBP	O43914³	I2D: score=2

About this table

Gene Ontology (GO): 4 biological process terms: About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006955	immune response	NAS	8627176
GO:0007165	signal transduction	NAS	8627176
GO:0045087	innate immune response	TAS	--
GO:0050776	regulation of immune response	TAS	--

Find genes that share ontologies with KIR2DS2 About GenesLikeMe

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
About This Section

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(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,
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About This Section

REFSEQ mRNAs for KIR2DS2 gene:

NM_012312.3

Unigene Cluster for KIR2DS2:

Killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2

Hs.512572

Unigene Representative Sequence: NM_012312

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Additional mRNA sequence:

AF074087.1 AF285438.1 AJ002102.1 AJ002103.1 AJ002104.1 AJ002105.1 AM409094.1 AY366243.1

AY366244.1 BC108917.1 BC119631.1 BC119632.1 BC125146.1 BC126856.1 FR750994.1 L41347.1

L76667.1 L76668.1 U24079.1 X89893.1

4 DOTS entries:

DT.121450394 DT.91758234 DT.95344553 DT.40115449

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™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

KIR2DS2 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

KIR2DS2 Protein expression data from MOPED¹, PaxDb² and MaxQB³:

--

SOURCE GeneReport for Unigene cluster: Hs.512572

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(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

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for KIR2DS2 gene

Selected SIMAP similar genes for KIR2DS2 using alignment to 10 protein entries: KI2S2_HUMAN (see all proteins) (see all similar genes):

KIR2DS2S3 KIR-K36 KIR412 KIR2DS1 KIR-K3 KIR-K65

KIR-K78 KIR-K9 KIR2DL3 p58 KIR-K61 KIR2DL2

KIR2DS3 KIR2DS5 KIR-K15 KIR-K64 KIR2DS4 KIR2DS

Find genes that share paralogs with KIR2DS2 About GenesLikeMe

(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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
About This Section

SNP ID	Clinical significance	Chr 19 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs3810343^1,2,4	--	--	see VAR_059420	2		mis⁴		0	--	--	--	--
rs2262065^1,2,4	--	--	see VAR_020090	2		mis⁴		0	--	--	--	--
rs1063326^1,2,4	--	--	see VAR_059422	2		mis⁴		0	--	--	--	--
rs673568^1,2,4	--	--	see VAR_059421	2		mis⁴		0	--	--	--	--

HapMap Linkage Disequilibrium report for KIR2DS2 (464497 - 478866 bp)

Structural Variations
Database of Genomic Variants (DGV) variations for KIR2DS2: --
Locus Specific Mutation Databases (LSDB): KIR2DS2

Site Specific Mutation Identification with PCR Assays

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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

OMIM gene information: 604953 OMIM disorders: --

7 diseases for KIR2DS2:
About MalaCards

type 1 diabetes mellitus cytomegalovirus infection non-hodgkin lymphoma chronic myeloid leukemia

hepatitis b virus infection birdshot chorioretinopathy ankylosing spondylitis

Find genes that share disorders with KIR2DS2 About GenesLikeMe

Genetic Association Database (GAD): KIR2DS2
Human Genome Epidemiology (HuGE) Navigator: KIR2DS2 (92 documents)

Export disorders for KIR2DS2 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 KIR2DS2 gene, integrated from 10 sources (see all 130):
(articles sorted by number of sources associating them with KIR2DS2)

Utopia: connect your pdf to the dynamic
world of online information

Molecular clones of the p58 NK cell receptor reveal immunoglobulin- related molecules with diversity in both the extra- and intracellular domains. (PubMed id 7749980)^{1, 2, 3} Wagtmann N.... Long E.O. (Immunity 1995)
Cloning of immunoglobulin-superfamily members associated with HLA-C and HLA-B recognition by human natural killer cells. (PubMed id 7716543)^{1, 2, 3} Colonna M. and Samaridis J. (Science 1995)
Association of killer cell immunoglobulin-like receptor 2DL5 with systemic lupus erythematosus and accompanying infections. (PubMed id 20371502)^{1, 4} Kimoto Y....Harada M. (Rheumatology (Oxford) 2010)
Immunogenetic characteristics of patients with autoimmune gastritis. (PubMed id 20082482)^{1, 4} Oksanen A.M....Partanen J.A. (World J. Gastroenterol. 2010)
Association of KIR2DS1 and KIR2DS3 with fatal outcome in Ebola virus infection. (PubMed id 20878400)^{1, 4} Wauquier N....Vieillard V. (Immunogenetics 2010)
Influence of HLA class I and HLA-KIR compound genotypes 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. (J. Virol. 2010)
Killer cell immunoglobulin-like receptors in HLA-B27-associated acute anterior uveitis, with and without axial spondyloarthropathy. (PubMed id 19850842)^{1, 4} Levinson R.D....Rajalingam R. (amp 2010)
Effect of killer immunoglobulin-like receptors in the response to combined treatment in patients with chronic hepatitis C virus infection. (PubMed id 19846535)^{1, 4} Vidal-CastiA+eira J.R....LA^pez-Larrea C. (J. Virol. 2010)
Killer cell immunoglobulin-like receptor gene polymorphisms in patients with leukemia: possible association with susceptibility to the disease. (PubMed id 19450876)^{1, 4} Zhang Y....Qi J. (Leuk. Res. 2010)
Killer cell immunoglobulin-like receptor gene-cluster 3DS1-2DL5-2DS1-2DS5 predisposes susceptibility to Vogt-Koyanagi-Harada syndrome in Japanese individuals. (PubMed id 19897003)^{1, 4} Levinson R.D....Rajalingam R. (Hum. Immunol. 2010)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
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: 100132285	HGNC: 6334	euGenes: HUgn100132285	ECgene: KIR2DS2
Kegg: 100132285	H-InvDB: KIR2DS2

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for KIR2DS2	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIR2DS2 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for KIR2DS2 gene:
Search GeneIP for patents involving KIR2DS2

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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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GeneCards Homepage - Last full update: 7 May 2014 - Incrementals: 9 May 2014 , 2 Jun 2014 , 26 Jun 2014 , 30 Jun 2014 , 21 Aug 2014 , 8 Sep 2014 , 2 Nov 2014 , 8 Jan 2015

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KIR2DS2 Gene

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

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KIR2DS2 (Gene Symbol)
Killer Cell Immunoglobulin-Like Receptor, Two Domains, Short Cytoplasmic Tail, 2
NKAT5
Natural Killer-Associated Transcript 5
CD158J
NKAT-5
CD158 Antigen-Like Family Member J
MHC Class I NK Cell Receptor
NK Receptor 183 ActI
P58 Natural Killer Cell Receptor Clone CL-49
P58 NK Receptor CL-49
1060P11.9.2
183ActI
CD158b
cl-49
Killer Cell Immunoglobulin-Like Receptor 2DS2
Killer-Cell Ig-Like Receptor
Killer-Cell Immunoglobulin-Like Receptor Two Domains Short Tail 2 Protein
Natural Killer Associated Transcript 5
Natural Killer Cell Inhibitory Receptor
P58 Killer Cell Inhibitory Receptor KIR-K7a
P58 KIR
CD158j Antigen

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KIR2DS2 Gene

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

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