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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
  • CD48 Antigen 3 4
  • BLAST1 3 4
  • SLAMF2 3 4
  • TCT.1 3 4
  • BCM1 3 4
  • CD48 Molecule 2
  • 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 Hematopoietic Stem Cell Differentiation Pathways and Lineage-specific Markers and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include 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

Additional gene information for CD48 Gene

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

Genomics for CD48 Gene

GeneHancer (GH) Regulatory Elements for CD48 Gene

Promoters and enhancers for CD48 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH01J160703 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 669.4 +2.3 2310 11.8 HDGF PKNOX1 SMAD1 STAT5A KLF5 IRF4 ZNF207 ATF7 ETV6 BCLAF1 CD48 SLAMF7 CD244 DEDD NCSTN ENSG00000228863 SLAMF1 LY9 LINC01133 ENSG00000256029
GH01J160738 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 10 -30.3 -30293 8 HDGF PKNOX1 SMAD1 ZNF133 BMI1 BATF KLF5 IRF4 ZNF207 ZNF143 SLAMF7 FCER1G CD48 CD244 ARHGAP30 COPA ENSG00000275801
GH01J160726 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9.4 -15.0 -14950 1.6 HDGF SMAD1 YBX1 IRF4 YY1 POLR2B ZNF766 ZNF213 ZNF143 ZNF207 SLAMF7 LY9 ENSG00000228863 ITLN1 DEDD NCSTN B4GALT3 SLAMF1 ENSG00000256029 CD48
GH01J160427 Enhancer 1.6 FANTOM5 Ensembl ENCODE dbSUPER 9 +281.2 281211 6 HDGF HDAC1 PKNOX1 SMAD1 STAT5A BATF IRF4 RAD21 ZNF766 ARID2 VANGL2 SLAMF7 USP21 SLAMF1 NCSTN ENSG00000228863 NHLH1 ITLN1 CD48 CD244
GH01J160681 Enhancer 1.2 Ensembl ENCODE dbSUPER 11.8 +28.1 28121 5.4 RB1 ARNT STAT5A RAD21 CBX5 ZNF143 BCLAF1 RUNX3 CREM SMARCA5 GC01P160684 CD48 SLAMF7 SLAMF1 LY9 ITLN1 ENSG00000228863
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CD48 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CD48 gene promoter:
  • p300
  • C/EBPalpha
  • AP-1
  • c-Fos
  • c-Jun
  • FosB
  • Fra-1
  • JunB
  • JunD

Genomic Locations for CD48 Gene

Genomic Locations for CD48 Gene
33,106 bases
Minus strand
33,106 bases
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:
    Recommended name:
    CD48 antigen
    Protein Accession:
    Secondary Accessions:
    • Q5U055
    • Q8MGR0

    Protein attributes for CD48 Gene

    243 amino acids
    Molecular mass:
    27683 Da
    Quaternary structure:
    • Interacts with CD2. Interacts with CD244 in a heterophilic manner.

    Three dimensional structures from OCA and Proteopedia for CD48 Gene

    Alternative splice isoforms for CD48 Gene


neXtProt entry for CD48 Gene

Post-translational modifications for CD48 Gene

  • Glycosylation at Asn206, posLast=189189, posLast=178178, posLast=162162, posLast=104104, Asn44, and posLast=4040
  • Modification sites at PhosphoSitePlus

Other Protein References for CD48 Gene

Assay Products

  • Abcam assays for CD48

No data available for DME Specific Peptides for CD48 Gene

Domains & Families for CD48 Gene

Gene Families for CD48 Gene

Human Protein Atlas (HPA):
  • CD markers
  • Plasma proteins
  • Predicted membrane proteins
  • Predicted secreted proteins

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

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

No data available for UniProtKB/Swiss-Prot for CD48 Gene

Function for CD48 Gene

Molecular function for CD48 Gene

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

Phenotypes From GWAS Catalog for CD48 Gene

Gene Ontology (GO) - Molecular Function for CD48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003823 antigen binding IEA --
GO:0005515 protein binding IPI 12356317
GO:0038023 signaling receptor activity IEA --
genes like me logo Genes that share ontologies with CD48: view
genes like me logo Genes that share phenotypes with CD48: view

Animal Models for CD48 Gene

MGI Knock Outs for CD48:

Animal Model Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CD48 gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 1
cytosol 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (3)
  • Cytosol (2)
  • Nucleoli fibrillar center (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CD48 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 1693656
GO:0016020 membrane IEA,HDA 19946888
GO:0031225 anchored component of membrane IEA --
GO:0045121 membrane raft IDA 11313396
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:0002819 regulation of adaptive immune response IEA --
GO:0006952 defense response TAS 2828034
GO:0007165 signal transduction IEA --
GO:0050900 leukocyte migration TAS --
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

mRNA/cDNA for CD48 Gene

Unigene Clusters for CD48 Gene

CD48 molecule:
Representative Sequences:

Clone Products

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

No ASD Table

Relevant External Links for CD48 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CD48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for CD48 Gene

Protein tissue co-expression partners for CD48 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CD48 Gene:


SOURCE GeneReport for Unigene cluster for CD48 Gene:


Evidence on tissue expression from TISSUES for CD48 Gene

  • Pancreas(4.1)
  • Blood(3.3)
  • Lymph node(3.1)
  • Bone marrow(3)
  • Spleen(3)
  • Intestine(2.4)
genes like me logo Genes that share expression patterns with CD48: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
(Pan troglodytes)
Mammalia CD48 34 33
  • 99.31 (n)
(Canis familiaris)
Mammalia CD48 34 33
  • 72.36 (n)
(Bos Taurus)
Mammalia CD48 34 33
  • 71.87 (n)
(Mus musculus)
Mammalia Cd48 16 34 33
  • 65.6 (n)
(Rattus norvegicus)
Mammalia Cd48 33
  • 65.3 (n)
(Ornithorhynchus anatinus)
Mammalia CD48 34
  • 21 (a)
Species where no ortholog for CD48 was found in the sources mined by GeneCards:
  • 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

Gene Tree for CD48 (if available)
Gene Tree for CD48 (if available)
Evolutionary constrained regions (ECRs) for CD48: view image

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 Variation AA Info Type
rs1000118569 -- 160,685,825(-) C/T intron_variant
rs1000155733 -- 160,688,387(-) C/G intron_variant
rs1000250159 -- 160,695,121(-) G/A intron_variant
rs1000271965 -- 160,688,179(-) A/C intron_variant
rs1000316130 -- 160,680,296(-) C/T downstream_transcript_variant, genic_downstream_transcript_variant, intron_variant

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

Variant ID Type Subtype PubMed ID
nsv437213 CNV loss 16327808
nsv506962 OTHER sequence alteration 20534489
nsv508042 OTHER sequence alteration 20534489
nsv511001 OTHER complex 20534489
nsv831714 CNV gain 17160897
nsv952223 CNV duplication 24416366

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)

Additional Variant Information for CD48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

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

Disorders for CD48 Gene

Additional Disease Information for CD48

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

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. TCT.1, a target molecule for gamma/delta T cells, is encoded by an immunoglobulin superfamily gene (Blast-1) located in the CD1 region of human chromosome 1. (PMID: 1827826) Del Porto P … Hercend T (The Journal of experimental medicine 1991) 3 4 22 58
  2. Characterization of the Epstein-Barr virus-inducible gene encoding the human leukocyte adhesion and activation antigen BLAST-1 (CD48). (PMID: 1847502) Fisher RC … Thorley-Lawson DA (Molecular and cellular biology 1991) 3 4 22 58
  3. The human leucocyte antigen CD48 (MEM-102) is closely related to the activation marker Blast-1. (PMID: 1999350) Korínek V … Horejsí V (Immunogenetics 1991) 3 4 22 58
  4. Molecular cloning of the lymphocyte activation marker Blast-1. (PMID: 2828034) Staunton DE … Thorley-Lawson DA (The EMBO journal 1987) 2 3 4 58
  5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 44 58

Products for CD48 Gene

Sources for CD48 Gene

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