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Aliases for CD244 Gene

Aliases for CD244 Gene

  • CD244 Molecule 2 3
  • CD244 Molecule, Natural Killer Cell Receptor 2B4 2 3 5
  • Signaling Lymphocytic Activation Molecule 4 3 4
  • NK Cell Type I Receptor Protein 2B4 3 4
  • NK Cell Activation-Inducing Ligand 3 4
  • SLAM Family Member 4 3 4
  • NKR2B4 3 4
  • SLAMF4 3 4
  • NAIL 3 4
  • H2B4 3 4
  • 2B4 3 4
  • NK Cell Activation Inducing Ligand NAIL 3
  • CD244 Natural Killer Cell Receptor 2B4 2
  • Natural Killer Cell Receptor 2B4 2
  • CD244 Antigen 4
  • Nmrk 3

External Ids for CD244 Gene

Previous GeneCards Identifiers for CD244 Gene

  • GC01M158591
  • GC01M156532
  • GC01M157577
  • GC01M158016
  • GC01M157613
  • GC01M159066
  • GC01M132156

Summaries for CD244 Gene

Entrez Gene Summary for CD244 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 to modulate NK-cell cytolytic activity. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

GeneCards Summary for CD244 Gene

CD244 (CD244 Molecule) is a Protein Coding gene. Diseases associated with CD244 include Rheumatoid Arthritis and Lymphoproliferative Syndrome, X-Linked, 1. Among its related pathways are Natural Killer Cell Receptors: Human Target Cell ?�� NK Cell Ligand-Receptor Interactions and T Cell Co-Signaling Pathway: Ligand-Receptor Interactions. GO annotations related to this gene include receptor activity.

UniProtKB/Swiss-Prot for CD244 Gene

  • 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 of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Acts as activating natural killer (NK) cell receptor (PubMed:10359122, PubMed:8376943, PubMed:11714776). Activating function implicates association with SH2D1A and FYN (PubMed:15713798). Downstreaming signaling involves predominantly VAV1, and, to a lesser degree, INPP5D/SHIP1 and CBL. Signal attenuation in the absence of SH2D1A is proposed to be dependent on INPP5D and to a lesser extent PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10934222, PubMed:15713798). Stimulates NK cell cytotoxicity, production of IFN-gamma and granule exocytosis (PubMed:8376943, PubMed:11714776). Optimal expansion and activation of NK cells seems to be dependent on the engagement of CD244 with CD48 expressed on neighboring NK cells (By similarity). Acts as costimulator in NK activation by enhancing signals by other NK receptors such as NCR3 and NCR1 (PubMed:10741393). At early stages of NK cell differentiation may function as an inhibitory receptor possibly ensuring the self-tolerance of developing NK cells (PubMed:11917118). Involved in the regulation of CD8(+) T-cell proliferation; expression on activated T-cells and binding to CD488 provides costimulatory-like function for neighboring T-cells (By similarity). Inhibits inflammatory responses in dendritic cells (DCs) (By similarity).

Gene Wiki entry for CD244 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD244 Gene

Genomics for CD244 Gene

Regulatory Elements for CD244 Gene

Enhancers for CD244 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around CD244 on UCSC Golden Path with GeneCards custom track

Promoters for CD244 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CD244 on UCSC Golden Path with GeneCards custom track

Genomic Location for CD244 Gene

Chromosome:
1
Start:
160,830,158 bp from pter
End:
160,862,902 bp from pter
Size:
32,745 bases
Orientation:
Minus strand

Genomic View for CD244 Gene

Genes around CD244 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD244 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD244 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD244 Gene

Proteins for CD244 Gene

  • Protein details for CD244 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BZW8-CD244_HUMAN
    Recommended name:
    Natural killer cell receptor 2B4
    Protein Accession:
    Q9BZW8
    Secondary Accessions:
    • Q5VYI2
    • Q5VYI6
    • Q5VYI7
    • Q96T47
    • Q9NQD2
    • Q9NQD3
    • Q9Y288

    Protein attributes for CD244 Gene

    Size:
    370 amino acids
    Molecular mass:
    41616 Da
    Quaternary structure:
    • Interacts with CD48 (PubMed:9841922). Interacts (via phosphorylated ITSM 1-4) with SH2D1A (via SH2 domain); SH2D1A probably mediates association with FYN. Interacts (via phosphorylated ITSM 3) with PTPN11/SHP-2, INPP5D/SHIP1, PTPN6/SHP-1 and CSK; binding of SH2D1A/SAP prevents association with PTPN11, PTPN6 and CSK; conflictingly a similar association has been described for phosphorylated ITSM 1 also including GRB2 and PLCG1. Interacts weakly (via phosphorylated ITSM 2) with PTPN11/SHP-2 and CSK (PubMed:10358138, PubMed:10934222, PubMed:12458214, PubMed:24642916, PubMed:26221972, PubMed:15713798). Interacts with SH2D1B (PubMed:12458214, PubMed:24642916). Interacts with PIK3R1; PI3K recruits SH2D1A (PubMed:11815622). Interacts with MHC class I proteins; the interaction is proposed to prevent self-killing of NK cells.

    Alternative splice isoforms for CD244 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD244 Gene

Proteomics data for CD244 Gene at MOPED

Post-translational modifications for CD244 Gene

  • N-linked glycosylation is essential for the binding to its ligand CD48. Also O-glycosylated, in contrast, O-linked sialylation has a negative impact on ligand binding.
  • Phosphorylated by FYN and CSK on tyrosine residues following activation. Coligation with inhibitory receptors such as KIR2DL1 inhibits phosphorylation upon contact of NK cells with sensitive target cells.
  • Glycosylation at Asn 71, Asn 77, Asn 89, Asn 164, Asn 181, Asn 192, Asn 200, and Asn 213
  • Modification sites at PhosphoSitePlus

Other Protein References for CD244 Gene

Antibody Products

  • R&D Systems Antibodies for CD244 (2B4/CD244/SLAMF4)

No data available for DME Specific Peptides for CD244 Gene

Domains & Families for CD244 Gene

Protein Domains for CD244 Gene

Suggested Antigen Peptide Sequences for CD244 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BZW8

UniProtKB/Swiss-Prot:

CD244_HUMAN :
  • The ITSMs (immunoreceptor tyrosine-based switch motifs) with the consensus sequence T-X-Y-X-X-[VI] present in SLAM family receptors have overlapping specificity for activating and inhibitory SH2 domain-containing binding partners. Especially they mediate the interaction with the SH2 domain of SH2D1A and SH2D1B. A three-pronged mechanism is proposed involving threonine (position -2), phosphorylated tyrosine (position 0) and valine/isoleucine (position +3).
Domain:
  • The ITSMs (immunoreceptor tyrosine-based switch motifs) with the consensus sequence T-X-Y-X-X-[VI] present in SLAM family receptors have overlapping specificity for activating and inhibitory SH2 domain-containing binding partners. Especially they mediate the interaction with the SH2 domain of SH2D1A and SH2D1B. A three-pronged mechanism is proposed involving threonine (position -2), phosphorylated tyrosine (position 0) and valine/isoleucine (position +3).
  • Contains 2 Ig-like (immunoglobulin-like) domains.
genes like me logo Genes that share domains with CD244: view

Function for CD244 Gene

Molecular function for CD244 Gene

UniProtKB/Swiss-Prot 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 of immune cells and thus are involved in the regulation and interconnection of both innate and adaptive immune response. Activities are controlled by presence or absence of small cytoplasmic adapter proteins, SH2D1A/SAP and/or SH2D1B/EAT-2. Acts as activating natural killer (NK) cell receptor (PubMed:10359122, PubMed:8376943, PubMed:11714776). Activating function implicates association with SH2D1A and FYN (PubMed:15713798). Downstreaming signaling involves predominantly VAV1, and, to a lesser degree, INPP5D/SHIP1 and CBL. Signal attenuation in the absence of SH2D1A is proposed to be dependent on INPP5D and to a lesser extent PTPN6/SHP-1 and PTPN11/SHP-2 (PubMed:10934222, PubMed:15713798). Stimulates NK cell cytotoxicity, production of IFN-gamma and granule exocytosis (PubMed:8376943, PubMed:11714776). Optimal expansion and activation of NK cells seems to be dependent on the engagement of CD244 with CD48 expressed on neighboring NK cells (By similarity). Acts as costimulator in NK activation by enhancing signals by other NK receptors such as NCR3 and NCR1 (PubMed:10741393). At early stages of NK cell differentiation may function as an inhibitory receptor possibly ensuring the self-tolerance of developing NK cells (PubMed:11917118). Involved in the regulation of CD8(+) T-cell proliferation; expression on activated T-cells and binding to CD488 provides costimulatory-like function for neighboring T-cells (By similarity). Inhibits inflammatory responses in dendritic cells (DCs) (By similarity).

Gene Ontology (GO) - Molecular Function for CD244 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IEA,IPI 16002700
genes like me logo Genes that share ontologies with CD244: view
genes like me logo Genes that share phenotypes with CD244: view

Animal Models for CD244 Gene

MGI Knock Outs for CD244:

Animal Model Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CD244 Gene

Localization for CD244 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD244 Gene

Membrane; Single-pass type I membrane protein. Cell membrane. Note=Receptor engagement results in a recruitment to lipid drafts essential for the subsequent tyrosine phosphorylation of the ITSMs. {ECO:0000269 PubMed:11034353}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD244 Gene COMPARTMENTS Subcellular localization image for CD244 gene
Compartment Confidence
plasma membrane 5

No data available for Gene Ontology (GO) - Cellular Components for CD244 Gene

Pathways & Interactions for CD244 Gene

genes like me logo Genes that share pathways with CD244: view

Gene Ontology (GO) - Biological Process for CD244 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001773 myeloid dendritic cell activation IEA --
GO:0002250 adaptive immune response IEA --
GO:0002323 natural killer cell activation involved in immune response IDA 11714776
GO:0007165 signal transduction TAS 10358138
GO:0045087 innate immune response IEA --
genes like me logo Genes that share ontologies with CD244: view

No data available for SIGNOR curated interactions for CD244 Gene

Drugs & Compounds for CD244 Gene

(2) Drugs for CD244 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for CD244 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD244: view

Transcripts for CD244 Gene

Unigene Clusters for CD244 Gene

CD244 molecule, natural killer cell receptor 2B4:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for CD244 Gene

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: -
SP6: - - - - - -
SP7:

Relevant External Links for CD244 Gene

GeneLoc Exon Structure for
CD244
ECgene alternative splicing isoforms for
CD244

Expression for CD244 Gene

mRNA expression in normal human tissues for CD244 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD244 Gene

This gene is overexpressed in Whole Blood (x23.5) and Spleen (x7.5).

Protein differential expression in normal tissues from HIPED for CD244 Gene

This gene is overexpressed in Plasma (23.2), Breast (19.0), and Skin (16.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CD244 Gene



SOURCE GeneReport for Unigene cluster for CD244 Gene Hs.157872

mRNA Expression by UniProt/SwissProt for CD244 Gene

Q9BZW8-CD244_HUMAN
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.
genes like me logo Genes that share expression patterns with CD244: view

Primer Products

No data available for Protein tissue co-expression partners for CD244 Gene

Orthologs for CD244 Gene

This gene was present in the common ancestor of chordates.

Orthologs for CD244 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia CD244 35
  • 73.13 (n)
  • 60.11 (a)
CD244 36
  • 57 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CD244 35
  • 70.93 (n)
  • 57.93 (a)
CD244 36
  • 49 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cd244 35
  • 68.34 (n)
  • 54.32 (a)
Cd244 16
Cd244 36
  • 48 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia CD244 35
  • 98.08 (n)
  • 94.81 (a)
CD244 36
  • 95 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd244 35
  • 61.4 (n)
  • 44.91 (a)
oppossum
(Monodelphis domestica)
Mammalia CD244 36
  • 32 (a)
OneToOne
chicken
(Gallus gallus)
Aves CD244 35
  • 46.21 (n)
  • 33.22 (a)
CD244 36
  • 26 (a)
OneToOne
Species with no ortholog for CD244:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for CD244 Gene

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

Paralogs for CD244 Gene

No data available for Paralogs for CD244 Gene

Variants for CD244 Gene

Sequence variations from dbSNP and Humsavar for CD244 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs34846692 - 160,841,698(-) TCAAG(A/G)ACTTG intron-variant, reference, missense
rs12064925 - 160,834,058(+) TCCTG(A/G)AAGGC reference, missense
rs480104 -- 160,831,256(-) GAACA(C/G)TTCCT utr-variant-3-prime
rs483197 -- 160,851,877(-) tATTT(G/T)TGTGT intron-variant
rs485618 -- 160,830,690(-) TCTCT(A/C/G/T)AGTAG utr-variant-3-prime

Variation tolerance for CD244 Gene

Residual Variation Intolerance Score: 59% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 35.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD244 Gene

Human Gene Mutation Database (HGMD)
CD244

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for CD244 Gene

Disorders for CD244 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CD244 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
rheumatoid arthritis
  • rheumatoid arthritis, progression of
lymphoproliferative syndrome, x-linked, 1
  • lymphoproliferative syndrome, x-linked
autoimmune lymphoproliferative syndrome, type v
  • autoimmune lymphoproliferative syndrome type v
progesterone-receptor positive breast cancer
- elite association - COSMIC cancer census association via MalaCards
Search CD244 in MalaCards View complete list of genes associated with diseases

Relevant External Links for CD244

Genetic Association Database (GAD)
CD244
Human Genome Epidemiology (HuGE) Navigator
CD244
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD244
genes like me logo Genes that share disorders with CD244: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CD244 Gene

Publications for CD244 Gene

  1. Molecular characterization of a novel human natural killer cell receptor homologous to mouse 2B4. (PMID: 10458320) Boles K.S. … Mathew P.A. (Tissue Antigens 1999) 2 3 4 23 67
  2. Activating NK-cell receptors co-stimulate CD4(+)CD28(-) T cells in patients with rheumatoid arthritis. (PMID: 19904767) Fasth A.E. … MalmstrAPm V. (Eur. J. Immunol. 2010) 3 23
  3. The association of MHC class I proteins with the 2B4 receptor inhibits self-killing of human NK cells. (PMID: 20164429) Betser-Cohen G. … Mandelboim O. (J. Immunol. 2010) 3 23
  4. Functional role of human NK cell receptor 2B4 (CD244) isoforms. (PMID: 19499526) Mathew S.O. … Mathew P.A. (Eur. J. Immunol. 2009) 3 23
  5. 2B4 (CD244) signaling by recombinant antigen-specific chimeric receptors costimulates natural killer cell activation to leukemia and neuroblastoma cells. (PMID: 19638467) Altvater B. … Rossig C. (Clin. Cancer Res. 2009) 3 23

Products for CD244 Gene

Sources for CD244 Gene

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