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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
  • 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 T Cell Co-Signaling Pathway: Ligand-Receptor Interactions and Cell surface interactions at the vascular wall. 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

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

Regulatory Elements for CD48 Gene

Enhancers for CD48 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH01H160703 1.5 FANTOM5 ENCODE dbSUPER 19.4 +2.3 2310 11 HDGF PKNOX1 TBL1XR1 SIN3A RFX5 ZNF207 ATF7 ETV6 RUNX3 CREM SLAMF7 CD244 CD48 DEDD NCSTN ENSG00000228863 SLAMF1 LY9 LINC01133 ENSG00000256029
GH01H160738 1.8 FANTOM5 Ensembl ENCODE dbSUPER 10 -30.3 -30294 8 HDGF PKNOX1 TBL1XR1 ZNF133 BMI1 BATF GATA2 ZNF143 ZNF207 ATF7 SLAMF7 FCER1G CD48 CD244 ARHGAP30 COPA ENSG00000275801
GH01H160726 1.9 FANTOM5 Ensembl ENCODE dbSUPER 9.4 -15.0 -14951 1 HDGF YBX1 YY1 ZNF766 ELK1 ZNF143 ZNF207 ATF7 RUNX3 GTF2B SLAMF7 LY9 ENSG00000228863 ITLN1 DEDD NCSTN B4GALT3 SLAMF1 ENSG00000256029 CD48
GH01H160681 1.4 Ensembl ENCODE dbSUPER 11.8 +28.1 28122 5 TBL1XR1 RB1 ARNT RAD21 CBX5 ZNF143 RUNX3 CREM SMARCA5 ZNF654 CD48 SLAMF7 SLAMF1 LY9 ITLN1 GC01P160684 ENSG00000228863
GH01H160427 1.8 FANTOM5 Ensembl ENCODE dbSUPER 9 +281.2 281211 5 HDAC1 HDGF PKNOX1 TBL1XR1 BATF RAD21 ZNF766 ZNF143 ZNF207 ATF7 VANGL2 SLAMF7 SLAMF1 NCSTN ENSG00000228863 NHLH1 ITLN1 CD48 CD244 LY9
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CD48 on UCSC Golden Path with GeneCards custom track

Promoters for CD48 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000014588 451 1201 TBL1XR1 EBF1 RELA POLR2A EED ZNF207 ATF7 ETV6 RUNX3 IKZF2

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 a 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

Post-translational modifications for CD48 Gene

  • Glycosylation at posLast=4040, Asn44, posLast=104104, posLast=162162, Asn178, Asn189, and posLast=206206
  • Modification sites at PhosphoSitePlus

Other Protein References for CD48 Gene

Antibody Products

  • Abcam antibodies for CD48

Protein Products

  • Abcam proteins for CD48

No data available for DME Specific Peptides for CD48 Gene

Domains & Families for CD48 Gene

Gene Families for CD48 Gene

HGNC:
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

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.

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:0004872 receptor activity IEA --
GO:0005515 protein binding IPI 12356317
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

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CD48
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

COMPARTMENTS
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:0009897 external side of plasma membrane IEA --
GO:0016020 membrane IEA,IDA 19946888
GO:0031225 anchored component of 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:0002819 regulation of adaptive immune response IEA --
GO:0006952 defense response TAS 2828034
GO:0007165 signal transduction IEA --
GO:0042110 T cell activation 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:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for CD48
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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 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, PaxDb, 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:

CD48

SOURCE GeneReport for Unigene cluster for CD48 Gene:

Hs.243564

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

Primer Products

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
chimpanzee
(Pan troglodytes)
Mammalia CD48 33 34
  • 99.31 (n)
dog
(Canis familiaris)
Mammalia CD48 33 34
  • 72.36 (n)
cow
(Bos Taurus)
Mammalia CD48 33 34
  • 71.87 (n)
mouse
(Mus musculus)
Mammalia Cd48 33 16 34
  • 65.6 (n)
rat
(Rattus norvegicus)
Mammalia Cd48 33
  • 65.3 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CD48 34
  • 21 (a)
OneToOne
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

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
rs1000118569 -- 160,685,825(+) AGAGC(C/T)TTCCT intron-variant
rs1000155733 -- 160,688,387(+) TCCTT(C/G)TCAAA intron-variant
rs1000250159 -- 160,695,121(+) GCAGA(A/G)CAGGA intron-variant
rs1000271965 -- 160,688,179(+) TTAAC(A/C)AAATG intron-variant
rs1000316130 -- 160,680,296(+) TTGAT(C/T)CAAGT intron-variant, downstream-variant-500B

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)

Relevant External Links for CD48 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
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. 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 60
  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 60
  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 60
  4. Molecular cloning of the lymphocyte activation marker Blast-1. (PMID: 2828034) Staunton DE … Thorley-Lawson DA (The EMBO journal 1987) 2 3 4 60
  5. A Large-scale genetic association study of esophageal adenocarcinoma risk. (PMID: 20453000) Liu CY … Christiani DC (Carcinogenesis 2010) 3 45 60

Products for CD48 Gene

Sources for CD48 Gene

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