CD244 (CD244 molecule)

Gene
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
51744
Gene name Gene Name - the full gene name approved by the HGNC.
CD244 molecule
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
CD244
Synonyms (NCBI Gene) Gene synonyms aliases
2B4, NAIL, NKR2B4, Nmrk, SLAMF4
Chromosome Chromosome number
1
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
1q23.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs3766379 T>C Risk-factor Intron variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(47)
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 information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(24)
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
605554 18171 ENSG00000122223
Protein
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
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
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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (2)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Crohn Disease Crohn's disease N/A N/A GWAS
Rheumatoid arthritis rheumatoid arthritis N/A N/A ClinVar
Show/Hide Text Mining Associations (43)
Associations from Text Mining Disease 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