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Aliases for CD48 Gene

Aliases for CD48 Gene

  • CD48 Molecule 2 3 5
  • Signaling Lymphocytic Activation Molecule 2 3 4
  • CD48 Antigen (B-Cell Membrane Protein) 2 3
  • B-Lymphocyte Activation Marker BLAST-1 3 4
  • Leukocyte Antigen MEM-102 3 4
  • BCM1 Surface Antigen 3 4
  • SLAM Family Member 2 3 4
  • BLAST1 3 4
  • SLAMF2 3 4
  • TCT.1 3 4
  • BCM1 3 4
  • CD48 Antigen 4
  • MEM-102 3
  • BLAST 3
  • HCD48 3
  • MCD48 3

External Ids for CD48 Gene

Previous HGNC Symbols for CD48 Gene

  • BCM1

Previous GeneCards Identifiers for CD48 Gene

  • GC01M158440
  • GC01M156380
  • GC01M157426
  • GC01M157865
  • GC01M157461
  • GC01M158915
  • GC01M132004

Summaries for CD48 Gene

Entrez Gene Summary for CD48 Gene

  • This gene encodes a member of the CD2 subfamily of immunoglobulin-like receptors which includes SLAM (signaling lymphocyte activation molecules) proteins. The encoded protein is found on the surface of lymphocytes and other immune cells, dendritic cells and endothelial cells, and participates in activation and differentiation pathways in these cells. The encoded protein does not have a transmembrane domain, however, but is held at the cell surface by a GPI anchor via a C-terminal domain which maybe cleaved to yield a soluble form of the receptor. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]

GeneCards Summary for CD48 Gene

CD48 (CD48 Molecule) is a Protein Coding gene. Among its related pathways are Platelet activation, signaling and aggregation and Dendritic Cells Developmental Lineage Pathway. GO annotations related to this gene include receptor activity and antigen binding.

UniProtKB/Swiss-Prot for CD48 Gene

  • Ligand for CD2. Might facilitate interaction between activated lymphocytes. Probably involved in regulating T-cell activation.

Gene Wiki entry for CD48 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CD48 Gene

Genomics for CD48 Gene

Regulatory Elements for CD48 Gene

Promoters for CD48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around CD48 on UCSC Golden Path with GeneCards custom track

Genomic Location for CD48 Gene

Chromosome:
1
Start:
160,678,746 bp from pter
End:
160,711,851 bp from pter
Size:
33,106 bases
Orientation:
Minus strand

Genomic View for CD48 Gene

Genes around CD48 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CD48 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CD48 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CD48 Gene

Proteins for CD48 Gene

  • Protein details for CD48 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P09326-CD48_HUMAN
    Recommended name:
    CD48 antigen
    Protein Accession:
    P09326
    Secondary Accessions:
    • Q5U055
    • Q8MGR0

    Protein attributes for CD48 Gene

    Size:
    243 amino acids
    Molecular mass:
    27683 Da
    Quaternary structure:
    • Interacts with CD244 in an heterophilic manner.

    Three dimensional structures from OCA and Proteopedia for CD48 Gene

    Alternative splice isoforms for CD48 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CD48 Gene

Proteomics data for CD48 Gene at MOPED

Post-translational modifications for CD48 Gene

  • Glycosylation at Asn 40, Asn 44, Asn 104, Asn 162, Asn 178, Asn 189, and Asn 206
  • Modification sites at PhosphoSitePlus

Other Protein References for CD48 Gene

Antibody Products

No data available for DME Specific Peptides for CD48 Gene

Domains & Families for CD48 Gene

Protein Domains for CD48 Gene

Suggested Antigen Peptide Sequences for CD48 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P09326

UniProtKB/Swiss-Prot:

CD48_HUMAN :
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
Domain:
  • Contains 2 Ig-like C2-type (immunoglobulin-like) domains.
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
genes like me logo Genes that share domains with CD48: view

Function for CD48 Gene

Molecular function for CD48 Gene

GENATLAS Biochemistry:
cell differentiation antigen CD48,?41kDa,identified by monoclonal antibodies WM68,LO-MN25,J4-57,Tu145,WM63,K31,Ig superfamily
UniProtKB/Swiss-Prot Function:
Ligand for CD2. Might facilitate interaction between activated lymphocytes. Probably involved in regulating T-cell activation.
genes like me logo Genes that share phenotypes with CD48: view

Animal Models for CD48 Gene

MGI Knock Outs for CD48:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for CD48 Gene

Localization for CD48 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CD48 Gene

Cell membrane; Lipid-anchor, GPI-anchor.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CD48 Gene COMPARTMENTS Subcellular localization image for CD48 gene
Compartment Confidence
extracellular 5
plasma membrane 5
chloroplast 1
cytosol 1
lysosome 1
nucleus 1
vacuole 1

Gene Ontology (GO) - Cellular Components for CD48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016020 membrane IDA 19946888
GO:0043234 protein complex IEA --
GO:0045121 membrane raft IDA 11313396
GO:0046658 anchored component of plasma membrane IEA --
genes like me logo Genes that share ontologies with CD48: view

Pathways & Interactions for CD48 Gene

genes like me logo Genes that share pathways with CD48: view

Gene Ontology (GO) - Biological Process for CD48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007165 signal transduction IEA --
GO:0045576 mast cell activation IEA --
genes like me logo Genes that share ontologies with CD48: view

No data available for SIGNOR curated interactions for CD48 Gene

Drugs & Compounds for CD48 Gene

(1) Drugs for CD48 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for CD48 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CD48: view

Transcripts for CD48 Gene

Unigene Clusters for CD48 Gene

CD48 molecule:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CD48 Gene

No ASD Table

Relevant External Links for CD48 Gene

GeneLoc Exon Structure for
CD48
ECgene alternative splicing isoforms for
CD48

Expression for CD48 Gene

mRNA expression in normal human tissues for CD48 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CD48 Gene

This gene is overexpressed in Whole Blood (x15.7).

Protein differential expression in normal tissues from HIPED for CD48 Gene

This gene is overexpressed in CD8 Tcells (19.2), Peripheral blood mononuclear cells (14.5), Lymph node (8.7), Monocytes (7.8), and NK cells (6.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for CD48 Gene



SOURCE GeneReport for Unigene cluster for CD48 Gene Hs.243564

genes like me logo Genes that share expression patterns with CD48: view

Protein tissue co-expression partners for CD48 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for CD48 Gene

Orthologs for CD48 Gene

This gene was present in the common ancestor of mammals.

Orthologs for CD48 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CD48 35
  • 99.31 (n)
  • 99.18 (a)
CD48 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CD48 36
  • 57 (a)
OneToOne
CD48 35
  • 71.87 (n)
  • 57.81 (a)
dog
(Canis familiaris)
Mammalia CD48 35
  • 72.36 (n)
  • 57.92 (a)
CD48 36
  • 57 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Cd48 36
  • 52 (a)
OneToOne
Cd48 16
Cd48 35
  • 65.6 (n)
  • 52.75 (a)
platypus
(Ornithorhynchus anatinus)
Mammalia CD48 36
  • 21 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Cd48 35
  • 65.3 (n)
  • 51.6 (a)
Species with no ortholog for CD48:
  • 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)
  • chicken (Gallus gallus)
  • 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)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • 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 CD48 Gene

ENSEMBL:
Gene Tree for CD48 (if available)
TreeFam:
Gene Tree for CD48 (if available)

Paralogs for CD48 Gene

No data available for Paralogs for CD48 Gene

Variants for CD48 Gene

Sequence variations from dbSNP and Humsavar for CD48 Gene

SNP ID Clin Chr 01 pos Sequence Context AA Info Type
rs2295615 - 160,684,968(+) GTCCT(C/G)TTTCT reference, missense
rs16832307 - 160,679,062(+) TAAGT(A/G)ACAGG reference, missense
rs487701 -- 160,693,288(+) tgcca(A/G)tgaaa intron-variant
rs352677 -- 160,705,554(+) ACATG(C/G)CTGGC intron-variant
rs352684 -- 160,711,985(+) GAACA(A/G)TTTTG upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for CD48 Gene

Variant ID Type Subtype PubMed ID
nsv831714 CNV Gain 17160897
nsv511001 CNV Complex 20534489
nsv506962 CNV Insertion 20534489
nsv437213 CNV Loss 16327808
nsv508042 CNV Loss 20534489

Variation tolerance for CD48 Gene

Residual Variation Intolerance Score: 67.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 3.65; 56.86% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CD48 Gene

HapMap Linkage Disequilibrium report
CD48

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CD48 Gene

Disorders for CD48 Gene

Relevant External Links for CD48

Genetic Association Database (GAD)
CD48
Human Genome Epidemiology (HuGE) Navigator
CD48
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CD48

No disorders were found for CD48 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for CD48 Gene

Publications for CD48 Gene

  1. Molecular cloning of the lymphocyte activation marker Blast-1. (PMID: 2828034) Staunton D.E. … Thorley-Lawson D.A. (EMBO J. 1987) 2 3 4 67
  2. 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
  3. Direct and indirect interactions of the cytoplasmic region of CD244 (2B4) in mice and humans with FYN kinase. (PMID: 17599905) Clarkson N.G. … Brown M.H. (J. Biol. Chem. 2007) 3 23
  4. CD48 is an allergen and IL-3-induced activation molecule on eosinophils. (PMID: 16785501) Munitz A. … Levi-Schaffer F. (J. Immunol. 2006) 3 23
  5. Crystal structure and binding properties of the CD2 and CD244 (2B4)-binding protein, CD48. (PMID: 16803907) Evans E.J. … Davis S.J. (J. Biol. Chem. 2006) 3 23

Products for CD48 Gene

Sources for CD48 Gene

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