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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

CD244 Gene

protein-coding GIFtS: 59
GCID: GC01M160799

CD244 molecule, natural killer cell receptor 2B4

(Previous names: natural killer cell receptor 2B4, CD244 natural killer...)

Explore 18 diseases affiliated with
CD244 via

MalaCards

our new
Human Malady Compendium

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

Aliases
CD244 Molecule, Natural Killer Cell Receptor 2B4¹ ²		H2B4¹
NAIL¹ ² ³ ⁵		NK Cell Activation-Inducing Ligand² ³
NKR2B4¹ ² ³ ⁵		NK Cell Type I Receptor Protein 2B4² ³
2B4¹ ² ³		CD244 Natural Killer Cell Receptor 2B4¹
SLAMF4¹ ² ⁵		NK Cell Activation Inducing Ligand NAIL²
Nmrk¹ ²		CD244 Antigen³
Natural Killer Cell Receptor 2B4¹ ²

External Ids:	HGNC: 18171¹	Entrez Gene: 51744²	Ensembl: ENSG00000122223⁷	OMIM: 605554⁵	UniProtKB: Q9BZW8³

Export aliases for CD244 gene to outside databases

Previous GC identifers: GC01M158591 GC01M156532 GC01M157577 GC01M158016 GC01M157613 GC01M159066 GC01M132156

(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 CD244:

This gene encodes a cell surface receptor expressed on natural killer (NK) cells (and some T cells) that mediate

non-major histocompatibility complex (MHC) restricted killing. The interaction between NK-cell and target cells via

this receptor is thought to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding

different isoforms have been found for this gene.(provided by RefSeq, Oct 2009)

UniProtKB/Swiss-Prot: CD244_HUMAN, Q9BZW8

Function: Modulate other receptor-ligand interactions to enhance leukocyte activation

Gene Wiki entry for CD244

(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:

NC_000001.10 NC_018912.1 NT_004487.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the CD244 gene promoter:
GR ISGF-3 AML1a GR-beta NCX/Ncx Tal-1beta YY1 Evi-1 GR-alpha ITF-2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: CD244 promoter sequence

Search SABiosciences Chromatin IP Primers for CD244

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CD244

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1q23.3 Ensembl cytogenetic band: 1q23.3 HGNC cytogenetic band: 1q23.1

CD244 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CD244 gene location

GeneLoc information about chromosome 1 GeneLoc Exon Structure

GeneLoc location for GC01M160799: view genomic region (about GC identifiers)

Start:	160,799,950 bp from pter	End:	160,832,692 bp from pter
Size:	32,743 bases	Orientation:	minus strand

(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: CD244_HUMAN, Q9BZW8 (See protein sequence)

Recommended Name: Natural killer cell receptor 2B4 precursor

Size: 370 amino acids; 41616 Da

Subunit: Interacts with CD48. Following phosphorylation, it is able to recruit PTPN11/SHP-2 and SH2D1A/SAP. Binding of

SH2D1A/SAP to CD244 prevents its association with PTPN11/SHP-2

Subcellular location: Membrane; Single-pass type I membrane protein (Potential)

Secondary accessions: Q5VYI2 Q5VYI6 Q5VYI7 Q96T47 Q9NQD2 Q9NQD3 Q9Y288

Alternative splicing: 4 isoforms: Q9BZW8-1 Q9BZW8-2 Q9BZW8-3 Q9BZW8-4 (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CD244: NX_Q9BZW8

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q9BZW8

CD244 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (3 alternative transcripts):

NP_001160135.1 NP_001160136.1 NP_057466.1

ENSEMBL proteins:

ENSP00000357013 ENSP00000357012 ENSP00000432636 ENSP00000313619 ENSP00000357011

Reactome Protein details: Q9BZW8
Human Recombinant Protein Products for CD244:

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	R&D Systems Recombinant & Natural Proteins for CD244 (2B4/CD244/SLAMF4)
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	OriGene Purified Protein: CD244 OriGene Protein Over-expression Lysate (see all 2): CD244 OriGene Custom Protein Services for CD244
	GenScript Custom Purified and Recombinant Proteins Services for CD244
	Novus Biologicals CD244 Proteins Novus Biologicals CD244 Lysate
	Sino Biological Recombinant Protein for CD244
	ProSpec Recombinant Protein for CD244
	Uscn Proteins for CD244

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	TAS	--
GO:0009897	external side of plasma membrane	IDA	17213291
GO:0016021	integral to membrane	IEA	--

CD244 for ontologies About GeneDecksing

CD244 Antibody Products:

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Assay Products for CD244:

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	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for CD244

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

CD244 for domains About GeneDecksing

5/6 InterPro domains/families (see all 6):

IPR024304 NK_rcpt_2B4

IPR015631 SLAM_fam_rcpts

IPR013783 Ig-like_fold

IPR007110 Ig-like_dom

IPR024303 NK_rcpt_2B4_Ig_dom

Graphical View of Domain Structure for InterPro Entry Q9BZW8

ProtoNet protein and cluster: Q9BZW8

1 Blocks protein family: IPB003599 Immunoglobulin subtype

UniProtKB/Swiss-Prot: CD244_HUMAN, Q9BZW8

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

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: CD244_HUMAN, Q9BZW8

Function: Modulate other receptor-ligand interactions to enhance leukocyte activation

Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004872	receptor activity	IEA	--
GO:0005515	protein binding	IPI	18296487

CD244 for ontologies About GeneDecksing

Phenotypes:
2 GenomeRNAi human phenotypes for CD244:

Increased HPV18 LCR reporter a

Proliferating cells

1 MGI mutant phenotype (inferred from 1 allele) (MGI details for Cd244):

immune system

CD244 for phenotypes About GeneDecksing

Animal Models:
Mouse knock-out Cd244^tm1Kmle for CD244

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CD244

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CD244
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate CD244:
		hsa-miR-1233 hsa-miR-186* hsa-miR-767-5p hsa-miR-551b* hsa-miR-3921
		SwitchGear 3'UTR luciferase reporter plasmid: CD244 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD244 (see all 7) OriGene shRNA RFP: CD244 OriGene siRNA: CD244
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD244
		Sirion Biotech Custom design and validation of potent shRNA sequences against CD244

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for CD244
			Sirion Biotech Customized adenovirus for overexpression of CD244 Sirion Biotech Customized adenovirus for potent knockdown of CD244

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD244 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CD244 (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): CD244 (NM_016382)
		Sino Biological Human cDNA Clone for CD244
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		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD244

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for CD244
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		Sirion Biotech Customized stable knockdown cell line services for CD244 Sirion Biotech Customized inducible knockdown cell line services for CD244 Sirion Biotech Customized stable overexpressing cell line services for CD244 Sirion Biotech Customized inducible overexpressing cell line services for CD244

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD244

(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-pathway

contained gene-specific pathways

Natural killer cell mediated cytotoxicity

Natural killer cell mediated cytotoxicity

1.00

Cell surface interactions at the vascular wall

Cell surface interactions at the vascular wall

1.00

Platelet activation, signaling and aggregation

Hemostasis

0.43

Pathway sources
See GeneCards unified pathways
Show all pathways

2 Reactome Pathways for CD244

	Hemostasis
	Cell surface interactions at the vascular wall

1 Kegg Pathway (Kegg details for CD244):

Natural killer cell mediated cytotoxicity

CD244 for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for CD244

STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

5/9 Interacting proteins for CD244 (Q9BZW8^{1, 2, 3} ENSP00000357013⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 9)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
ARHGEF7	Q14155²^,³, ENSP00000364893⁴	MINT-3374907 I2D: score=2 STRING: ENSP00000364893
CD48	P09326¹^,³, ENSP00000357025⁴	EBI-1580565,EBI-714770 I2D: score=2 STRING: ENSP00000357025
SH2D1A	O60880²^,³, ENSP00000360181⁴	MINT-3371771 I2D: score=5 STRING: ENSP00000360181
SH3BP2	P78314²^,³, ENSP00000348685⁴	MINT-8037426 I2D: score=1 STRING: ENSP00000348685
CD247	P20963³, ENSP00000354782⁴	I2D: score=1 STRING: ENSP00000354782

About this table

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0007165	signal transduction	TAS	10358138
GO:0007596	blood coagulation	TAS	--
GO:0050900	leukocyte migration	TAS	--

CD244 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

CD244 for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for CD244
4 Novoseek chemical compound relationships for CD244 gene About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
tyrosine	42.5	8	10358138 (2), 11034353 (1), 11513144 (1), 11689425 (1) (see all 6)
ly294002	25.6	4	12807490 (1), 11815622 (1)
phosphoinositide	15.8	3	11815622 (2), 12807490 (1)
lipid	0	6	12515815 (3), 15677558 (1)

Search CenterWatch for drugs/clinical trials and news about CD244

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
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 CD244 gene (3 alternative transcripts):

NM_001166663.1 NM_001166664.1 NM_016382.3

Unigene Cluster for CD244:

CD244 molecule, natural killer cell receptor 2B4

Hs.157872 [show with all ESTs]

Unigene Representative Sequence: NM_001166663

6 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000368034(uc001fxa.3 uc009wtr.3 uc009wtq.3 uc009wtp.3)

ENST00000368033 ENST00000492063 ENST00000322302 ENST00000481677 ENST00000368032(uc010pjt.2)

miRNA Products:		Browse 3'-UTR reporter clones for miRNA target validation Browse OriGene MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CD244
		5 QIAGEN miScript miRNA Assays for microRNAs that regulate CD244:
		hsa-miR-1233 hsa-miR-186* hsa-miR-767-5p hsa-miR-551b* hsa-miR-3921
		SwitchGear 3'UTR luciferase reporter plasmid: CD244 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CD244 (see all 7) OriGene shRNA RFP: CD244 OriGene siRNA: CD244
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CD244
		Sirion Biotech Custom design and validation of potent shRNA sequences against CD244

Clone Products:		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CD244 (see all 5) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CD244 (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 3): CD244 (NM_016382)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for CD244
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CD244

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CD244 Browse OriGene validated miRNA SYBR primer pairs
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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CD244
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD244

Additional cDNA sequence:

AF105261.1 AF107761.2 AF117711.1 AF145782.1 AF242540.1 AF363452.1 AJ245375.1 AJ245376.1

AK295950.1 AK313201.1 BC028073.1 BC041607.1 BC053985.1

3 DOTS entries:

DT.70103143 DT.97764917 DT.92043047

24/27 AceView cDNA sequences (see all 27):

AF105261 AJ245376 BC053985 AJ245377 AJ245375 AF107761 NM_016382 AI688606

BM561503 BC041607 BC028073 CB217129 AF145782 BV198847 BM564435 AF117711

AI363168 AW452231 AF242540 AF363452 BU752490 BX281209 BI911487 AI871467

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for CD244 (see all 7) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	^	3	^	4a	·	4b	^	5a	·	5b	·	5c	·	5d	^	6a	·	6b	·	6c	^	7	^	8	^	9	^	10a	·	10b	^	11a	·	11b	·	11c
SP1:									-						-								-				-								-
SP2:									-														-				-								-
SP3:									-						-								-				-
SP4:									-						-		-		-		-		-				-								-
SP5:																															-

ECgene alternative splicing isoforms for CD244

(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

CD244 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --

About this image

CD244 expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Zeugopod Periosteum

Bone

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See CD244 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CD244

SOURCE GeneReport for Unigene cluster: Hs.157872

UniProtKB/Swiss-Prot: CD244_HUMAN, Q9BZW8

Tissue specificity: Expressed in spleen, PBL, followed by lung, liver, testis and small intestine. Expressed not only

in NK cells, but also on monocytes and basophils

SABiosciences Expression via Pathway-Focused PCR Array including CD244:

Cell Surface Markers in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CD244

In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CD244

(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 CD244 gene from 2/6 species (see all 6) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Cd244^{1 , 5}	CD244 natural killer cell receptor 2B4^{1, 5}	67.59(n)¹ 53.31(a)¹		1 (79.52 cM)⁵ 18106¹ NM_018729.2¹ NP_061199.2¹ 171559193⁵
chicken (Gallus gallus)	Aves	CD244¹	CD244 molecule, natural killer cell receptor 2B4	47.01(n) 32.57(a)		425935 XM_003643381.1 XP_003643429.1

ENSEMBL Gene Tree for CD244 (if available)
TreeFam Gene Tree for CD244 (if available)

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

(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

SNP ID	Valid	Clinical significance	Chr 1 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs118169990^1,2	F	--	160799553(+)	`CTCTAC/GTCACT`	3	--	ds500¹		1		EA	120
rs181682106^1,2		--	160799675(+)	`GTTCAC/TACTTC`	3	--	ds500¹		0	--	--	--	--
rs3766375^1,2	C,F,H	--	160799686(+)	`TCTCCA/GGGAGG`	3	--	ds500¹		7		EA NS NA	1998
rs186386433^1,2		--	160799716(+)	`CACAGA/TCTCAG`	3	--	ds500¹		0	--	--	--	--
rs189413795^1,2		--	160799823(+)	`GTGAAC/TAGGGC`	3	--	ds500¹		0	--	--	--	--
rs181775292^1,2		--	160799959(+)	`GAGGAC/TACATA`	3	--	ut3¹		0	--	--	--	--
rs78916399^1,2	C,F	--	160800012(+)	`TCACCG/ATTTTA`	3	--	ut3¹		1		WA	118
rs144853685^1,2		--	160800042(+)	`ATACAA/GGGTAG`	3	--	ut3¹		0	--	--	--	--
rs79250720^1,2	C,F	--	160800044(+)	`ACAGGG/ATAGGA`	3	--	ut3¹		1		WA	118
rs148555185^1,2		--	160800126(+)	`TTGTCG/TCTTTC`	3	--	ut3¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for CD244 (160799950 - 160832692 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for CD244: --
Human Gene Mutation Database (HGMD): CD244

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CD244

DNA2.0 Custom Variant and Variant Library Synthesis for CD244

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

CD244 for disorders           About GeneDecksing

OMIM gene information: 605554
OMIM disorders: 180300
18 diseases for CD244:    About MalaCards

human t-cell leukemia virus type 1 lymphoproliferative syndrome bcg infection infectious mononucleosis

rheumatoid arthritis systemic lupus erythematosus lupus erythematosus t-cell leukemia

myelodysplastic syndrome arthritis hepatitis b cervical cancer

cervicitis influenza leukemia hepatitis

neuroblastoma melanoma

6 Novoseek disease relationships for CD244 gene About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
x-linked lymphoproliferative syndrome	91.9	5	11275258 (1), 11342640 (1), 11099315 (1), 15713798 (1)
lymphoproliferative syndrome	89.7	5	11815622 (2), 11093147 (1), 11489943 (1)
ebv infections	46.8	1	16710842 (1)
tumors	7.82	3	15998796 (1), 19360406 (1), 19638467 (1)
necrosis	0	2	16045743 (1), 19638467 (1)
cancer	0	2	16710842 (1), 19360406 (1)

Human Genome Epidemiology (HuGE) Navigator: CD244 (6 documents)

Export disorders for CD244 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)
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PubMed articles for CD244 gene, integrated from 9 sources (see all 129):
(articles sorted by number of sources associating them with CD244)

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Molecular characterization of a novel human natural killer cell receptor homologous to mouse 2B4. (PubMed id 10458320)^{1, 2, 3, 9} Boles K.S....Mathew P.A. (1999)
Human 2B4, an activating NK cell receptor, recruits the protein tyrosine phosphatase SHP-2 and the adaptor signaling protein SAP. (PubMed id 10358138)^{1, 2, 9} Tangye S.G....Phillips J.H. (1999)
Signal peptide prediction based on analysis of experimentally verified cleavage sites. (PubMed id 15340161)^{1, 2} Zhang Z. and Henzel W.J. (2004)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
X-linked lymphoproliferative disease: 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. (PubMed id 10934222)^{1, 2} Parolini S.... Moretta A. (2000)
Structure of the human natural killer cell receptor 2B4 gene and identification of a novel alternative transcript. (PubMed id 11003394)^{1, 2} Kumaresan P.R. and Mathew P.A. (2000)
Activating interactions in human NK cell recognition: the role of 2B4-CD48. (PubMed id 10359122)^{1, 2} Nakajima H.... Colonna M. (1999)
Molecular cloning and biological characterization of NK cell activation-inducing ligand, a counterstructure for CD48. (PubMed id 10556801)^{1, 2} Kubin M.Z.... Goodwin R.G. (1999)
Analysis of a human V beta gene subfamily. (PubMed id 3772297)^{1, 3} Siu G....Hood L.E. (1986)
Molecular basis of the dual functions of 2B4 (CD244). (PubMed id 18523281)^{1, 9} Chlewicki L.K....Kumar V. (2008)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

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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: 51744	HGNC: 18171	AceView: CD244	Ensembl:ENSG00000122223	euGenes: HUgn51744
ECgene: CD244	Kegg: 51744	H-InvDB: CD244

(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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Name	Description
PharmGKB entry for CD244	Pharmacogenomics, SNPs, Pathways

Intellectual Property for CD244 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for CD244 gene:
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CD244 molecule, natural killer cell receptor 2B4

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CD244 Gene

CD244 molecule, natural killer cell receptor 2B4

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