CD244 (CD244 molecule)

Gene

• Entrez ID: 51744
• Gene name: CD244 molecule
• Gene symbol: CD244
• Synonyms: 2B4, NAIL, NKR2B4, Nmrk, SLAMF4
• Chromosome: 1
• Chromosome location: 1q23.3
• Summary: 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 t

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs3766379	T>C	Risk-factor	Intron variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT713727	hsa-miR-6512-5p	HITS-CLIP	19536157
MIRT713726	hsa-miR-382-3p	HITS-CLIP	19536157
MIRT713725	hsa-miR-125a-5p	HITS-CLIP	19536157
MIRT713724	hsa-miR-125b-5p	HITS-CLIP	19536157
MIRT713723	hsa-miR-4319	HITS-CLIP	19536157
MIRT713722	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT713721	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT713720	hsa-miR-5702	HITS-CLIP	19536157
MIRT713719	hsa-miR-6868-3p	HITS-CLIP	19536157
MIRT713718	hsa-miR-937-5p	HITS-CLIP	19536157
MIRT713727	hsa-miR-6512-5p	HITS-CLIP	19536157
MIRT713726	hsa-miR-382-3p	HITS-CLIP	19536157
MIRT713725	hsa-miR-125a-5p	HITS-CLIP	19536157
MIRT713724	hsa-miR-125b-5p	HITS-CLIP	19536157
MIRT713723	hsa-miR-4319	HITS-CLIP	19536157
MIRT713722	hsa-miR-6734-3p	HITS-CLIP	19536157
MIRT713721	hsa-miR-3667-3p	HITS-CLIP	19536157
MIRT713720	hsa-miR-5702	HITS-CLIP	19536157
MIRT713719	hsa-miR-6868-3p	HITS-CLIP	19536157
MIRT713718	hsa-miR-937-5p	HITS-CLIP	19536157
MIRT756136	hsa-miR-330-3p	Luciferase reporter assay, Western blotting, qRT-PCR	36845111
MIRT874383	hsa-miR-3157-5p	CLIP-seq
MIRT874384	hsa-miR-331-3p	CLIP-seq
MIRT874385	hsa-miR-4287	CLIP-seq
MIRT874386	hsa-miR-4469	CLIP-seq
MIRT874387	hsa-miR-4685-3p	CLIP-seq
MIRT874388	hsa-miR-4690-3p	CLIP-seq
MIRT874389	hsa-miR-1262	CLIP-seq
MIRT874390	hsa-miR-3194-3p	CLIP-seq
MIRT874391	hsa-miR-326	CLIP-seq
MIRT874392	hsa-miR-330-5p	CLIP-seq
MIRT874393	hsa-miR-4701-3p	CLIP-seq
MIRT874394	hsa-miR-19a	CLIP-seq
MIRT874395	hsa-miR-19b	CLIP-seq
MIRT874396	hsa-miR-3173-5p	CLIP-seq
MIRT874397	hsa-miR-320a	CLIP-seq
MIRT874398	hsa-miR-320b	CLIP-seq
MIRT874399	hsa-miR-320c	CLIP-seq
MIRT874400	hsa-miR-320d	CLIP-seq
MIRT874401	hsa-miR-320e	CLIP-seq
MIRT756136	hsa-miR-330-3p	CLIP-seq
MIRT874402	hsa-miR-3663-5p	CLIP-seq
MIRT874403	hsa-miR-4286	CLIP-seq
MIRT874404	hsa-miR-4312	CLIP-seq
MIRT874405	hsa-miR-4429	CLIP-seq
MIRT874406	hsa-miR-4728-3p	CLIP-seq
MIRT874407	hsa-miR-653	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0002250	Process	Adaptive immune response	IEA
GO:0002323	Process	Natural killer cell activation involved in immune response	IDA	11714776
GO:0005515	Function	Protein binding	IPI	11489943, 15153464, 15841490, 16002700, 16920955, 16983070, 18296487, 20164429, 23346089, 24642916, 26221972
GO:0005886	Component	Plasma membrane	TAS
GO:0007165	Process	Signal transduction	TAS	10358138
GO:0009897	Component	External side of plasma membrane	IDA	17213291
GO:0016021	Component	Integral component of membrane	IEA
GO:0032729	Process	Positive regulation of interferon-gamma production	IDA	11714776
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	8376943
GO:0038023	Function	Signaling receptor activity	IEA
GO:0042288	Function	MHC class I protein binding	IDA	20164429
GO:0045087	Process	Innate immune response	IEA
GO:0050900	Process	Leukocyte migration	TAS
GO:0060732	Process	Positive regulation of inositol phosphate biosynthetic process	IDA	8376943
GO:0071663	Process	Positive regulation of granzyme B production	IDA	11714776

Other IDs

• MIM: 605554
• HGNC: 18171
• e!Ensembl: ENSG00000122223

Protein

• UniProt ID: Q9BZW8
• Protein name: Natural killer cell receptor 2B4 (NK cell activation-inducing ligand) (NAIL) (NK cell type I receptor protein 2B4) (NKR2B4) (h2B4) (SLAM family member 4) (SLAMF4) (Signaling lymphocytic activation molecule 4) (CD antigen CD244)
• Protein function: Heterophilic receptor of the signaling lymphocytic activation molecule (SLAM) family; its ligand is CD48. SLAM receptors triggered by homo- or heterotypic cell-cell interactions are modulating the activation and differentiation of a wide variety
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF11465	Receptor_2B4	22 → 127	Natural killer cell receptor 2B4	Domain
  PF13895	Ig_2	137 → 216	Immunoglobulin domain	Domain

• Sequence:

  MLGQVVTLILLLLLKVYQGKGCQGSADHVVSISGVPLQLQPNSIQTKVDSIAWKKLLPSQ
  NGFHHILKWENGSLPSNTSNDRFSFIVKNLSLLIKAAQQQDSGLYCLEVTSISGKVQTAT
  FQVFVFESLLPDKVEKPRLQGQGKILDRGRCQVALSCLVSRDGNVSYAWYRGSKLIQTAG
  NLTYLDEEVDINGTHTYTCNVSNPVSWESHTLNLTQDCQNAHQEFRFWPFLVIIVILSAL
  FLGTLACFCVWRRKRKEKQSETSPKEFLTIYEDVKDLKTRRNHEQEQTFPGGGSTIYSMI
  QSQSSAPTSQEPAYTLYSLIQPSRKSGSRKRNHSPSFNSTIYEVIGKSQPKAQNPARLSR
  KELENFDVYS

• Sequence length: 370

Pathways

KEGG:

Natural killer cell mediated cytotoxicity

Reactome:

Cell surface interactions at the vascular wall

Associated diseases

Causal
Disease name	Disease term	dbSNP ID	References
Rheumatoid arthritis	Rheumatoid Arthritis	rs3766379, rs3792876, rs2071592, rs3087456, rs587776843, rs1566328963, rs2240340, rs1557787212	18794858
Vasculitis	Vasculitis	rs376785840, rs587777240, rs200930463, rs587777241, rs77563738, rs202134424, rs148936893, rs587777242, rs775440641, rs770689762, rs45511697, rs139750129, rs756881285, rs747774101, rs1568966771, rs766602945, rs1601419986, rs1489114116, rs754904956, rs755007390, rs368615054

Unknown
Disease name	Disease term	dbSNP ID	References
Crohn disease	Crohn Disease	rs2066847, rs2066844, rs886052047, rs5743265, rs111608429, rs104895438	21102463
Drachtman weinblatt sitarz syndrome	Congenital neurologic anomalies