CD244 (CD244 molecule)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 51744
Gene name CD244 molecule
Gene symbol CD244
Synonyms (NCBI Gene)
2B4NAILNKR2B4NmrkSLAMF4
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 information provided by dbSNP.
1
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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SNP ID Visualize variation Clinical significance Consequence
rs3766379 T>C Risk-factor Intron variant
miRNA miRNA information provided by mirtarbase database.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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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
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605554 18171 ENSG00000122223
Protein Protein information from UniProt database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
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
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Natural killer cell mediated cytotoxicity   Cell surface interactions at the vascular wall
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
CD244-related disorder Benign rs140746142, rs16832484 RCV003914168
RCV003978374
Prostate cancer Uncertain significance rs193921024 RCV000149080
Rheumatoid arthritis risk factor rs3766379 RCV000005173
Show/Hide Text Mining Associations (43)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acquired Immunodeficiency Syndrome Associate 21256826
Adenocarcinoma of Lung Associate 35946526
Arthritis Psoriatic Associate 39662827
Arthritis Rheumatoid Inhibit 27345162
Colorectal Neoplasms Stimulate 32393998
Colorectal Neoplasms Associate 37945594
COVID 19 Associate 33154753
Deltaretrovirus Infections Associate 24505299
Dermatomyositis Associate 27039301
Down Syndrome Associate 35222360