CD244 (CD244 molecule)

Gene

• Entrez ID: 51744
• Gene name: CD244 molecule
• Gene symbol: CD244
• Synonyms (NCBI Gene): 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	IBA
GO:0002323	Process	Natural killer cell activation involved in immune response	IDA	11714776
GO:0002376	Process	Immune system process	IEA
GO:0005515	Function	Protein binding	IPI	11489943, 15153464, 15841490, 16002700, 16920955, 16983070, 18296487, 20164429, 23346089, 24642916, 26221972
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006955	Process	Immune response	IBA
GO:0007165	Process	Signal transduction	TAS	10358138
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009897	Component	External side of plasma membrane	IDA	17213291
GO:0016020	Component	Membrane	IEA
GO:0030101	Process	Natural killer cell activation	IDA	15169881, 15713798
GO:0030101	Process	Natural killer cell activation	IDA	27249817
GO:0032729	Process	Positive regulation of type II interferon production	IDA	11714776
GO:0032757	Process	Positive regulation of interleukin-8 production	IDA	8376943
GO:0038023	Function	Signaling receptor activity	IDA	27249817
GO:0038023	Function	Signaling receptor activity	TAS	10358138
GO:0042288	Function	MHC class I protein binding	IBA
GO:0042288	Function	MHC class I protein binding	IDA	20164429
GO:0045087	Process	Innate immune response	IEA
GO:0045121	Component	Membrane raft	IEA
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

• Tissue specificity: TISSUE SPECIFICITY: Expressed in spleen, PBL, followed by lung, liver, testis and small intestine. Expressed in all natural killer (NK) cells, monocytes and basophils, TCR-gamma/delta+ T-cells, monocytes, basophils, and on a subset of CD8(+) T-cells. {ECO
• 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

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ANKYLOSING SPONDYLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARTHRITIS, RHEUMATOID	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CD244-related disorder	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CROHN'S DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INFLAMMATORY BOWEL DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostate cancer	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid arthritis	risk factor	ClinVar ClinVar, Disgenet ClinVar, Disgenet ClinVar, Disgenet	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
SCLEROSING CHOLANGITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ULCERATIVE COLITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Amnesia	Amnesia	BEFREE	26314831		★☆☆☆☆ Found in Text Mining only
Arthritis Psoriatic	Psoriatic arthritis	Pubtator	39662827	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27345162	Inhibit	★☆☆☆☆ Found in Text Mining only
Asthma	Asthma	BEFREE	27859399		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	21622868, 28768726		★☆☆☆☆ Found in Text Mining only
Cirrhosis	Cirrhosis	BEFREE	26296604		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32393998	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	37945594	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	23274669, 30016182		★☆☆☆☆ Found in Text Mining only
Congenital neurologic anomalies	Drachtman Weinblatt Sitarz syndrome	HPO_DG			★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASDB_DG	21102463		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn Disease	GWASCAT_DG	21102463		★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Dermatomyositis	Pubtator	27039301	Associate	★☆☆☆☆ Found in Text Mining only
Down Syndrome	Down syndrome	Pubtator	35222360	Associate	★☆☆☆☆ Found in Text Mining only
Dry Eye Syndromes	Dry eye syndrome	Pubtator	39884388	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	36199963	Associate	★☆☆☆☆ Found in Text Mining only
Immune System Diseases	Immune system disease	Pubtator	11034354	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	LHGDN	11986947		★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	19638467	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	28126968		★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	29908544, 29946192, 34913594, 39582863	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	LHGDN	11986947		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	28126968, 29908544, 29946192		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26296604		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver Cirrhosis	BEFREE	26296604		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	35981786	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus	Lupus Erythematosus	BEFREE	21622868		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	20345977, 26314831, 27345162, 28593610, 29020082	Inhibit	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	22661557, 28387859, 35603218	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Discoid	Lupus Erythematosus	BEFREE	21622868		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	18794858, 20437071, 21622868, 26314831, 28593610, 30347240		★☆☆☆☆ Found in Text Mining only
Lupus Vulgaris	Lupus Vulgaris	BEFREE	21622868		★☆☆☆☆ Found in Text Mining only
Lymphoma, Follicular	Lymphoma	BEFREE	29217528		★☆☆☆☆ Found in Text Mining only
Lymphoproliferative Disorders	Lymphoproliferative syndrome	Pubtator	10934222, 11034354, 11342640, 11815622, 15713798, 15814676, 24985396	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30347240		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	15889254	Stimulate	★☆☆☆☆ Found in Text Mining only
Myositis	Myositis	Pubtator	27039301	Associate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	36438903	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	30546369		★☆☆☆☆ Found in Text Mining only
nervous system disorder	Nervous System Disorder	BEFREE	19997502		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	19638467	Associate	★☆☆☆☆ Found in Text Mining only
Ovarian Neoplasms	Ovarian neoplasm	Pubtator	35186171	Associate	★☆☆☆☆ Found in Text Mining only
Paraparesis Tropical Spastic	Tropical spastic paraparesis	Pubtator	19997502	Associate	★☆☆☆☆ Found in Text Mining only
Peripheral Arterial Disease	Peripheral arterial disease	Pubtator	39221259	Associate	★☆☆☆☆ Found in Text Mining only
Polymyositis	Polymyositis	Pubtator	27039301	Associate	★☆☆☆☆ Found in Text Mining only
Prostatic Hyperplasia	Prostatic hyperplasia	Pubtator	39390078	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	29757042		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	18794858, 19324521, 19435719, 21586211		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	LHGDN	18794858		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	CTD_human_DG	18794858		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	CLINVAR_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Rheumatoid Arthritis	Rheumatoid arthritis	HPO_DG			★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Systemic Scleroderma	Scleroderma	BEFREE	21586211		★☆☆☆☆ Found in Text Mining only
Vasculitis	Vasculitis	HPO_DG			★☆☆☆☆ Found in Text Mining only
X-Linked Lymphoproliferative Disorder	Lymphoproliferative Syndrome, X-Linked	BEFREE	11093147, 15814676		★☆☆☆☆ Found in Text Mining only