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 no... See more...

Aliases for CD48 Gene

Aliases for CD48 Gene

  • CD48 Molecule 2 3 5
  • SLAMF2 2 3 4
  • 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
  • BLAST 2 3
  • HCD48 2 3
  • MCD48 2 3
  • TCT.1 3 4
  • BCM1 3 4
  • CD48 Molecule 2
  • MEM-102 3
  • CD48 5

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. Diseases associated with CD48 include Lymphoproliferative Syndrome, X-Linked, 1 and Cone-Rod Dystrophy 6. Among its related pathways are Gastric Cancer Network 2 and Cell surface interactions at the vascular wall. Gene Ontology (GO) annotations related to this gene include antigen binding. An important paralog of this gene is SLAMF1.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for CD48 Gene

Genomics for CD48 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CD48 Gene
- 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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CD48

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

Genomic Locations for CD48 Gene

Genomic Locations for CD48 Gene
chr1:160,678,746-160,711,851
(GRCh38/hg38)
Size:
33,106 bases
Orientation:
Minus strand
chr1:160,648,536-160,681,641
(GRCh37/hg19)
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 CD2. 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 Asn40, Asn44, Asn104, Asn162, Asn189, and Asn206
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for CD48 Gene

Antibody Products

  • Abcam antibodies for CD48

Assay Products

  • Signalway ELISA kits for CD48
  • Abcam assays 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 intracellular proteins
  • Predicted membrane proteins

Protein Domains for CD48 Gene

InterPro:
Blocks:
  • Immunoglobulin subtype
ProtoNet:

Suggested Antigen Peptide Sequences for CD48 Gene

GenScript: Design optimal peptide antigens:
  • TCT.1 (CD48_HUMAN)
  • CD48 protein (Q6IAZ2_HUMAN)
genes like me logo Genes that share domains with CD48: view

No data available for Graphical View of Domain Structure and 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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD48

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
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
endoplasmic reticulum 1
endosome 1
golgi apparatus 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:0016020 membrane IEA,HDA 19946888
GO:0031225 anchored component of membrane IEA --
GO:0031226 intrinsic component of plasma membrane TAS 1693656
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

Pathways by source for CD48 Gene

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: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

2 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CD48

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

No ASD Table

Relevant External Links for CD48 Gene

GeneLoc Exon Structure for
CD48

Expression for CD48 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CD48

SOURCE GeneReport for Unigene cluster for CD48 Gene:

Hs.243564

Evidence on tissue expression from TISSUES for CD48 Gene

  • Pancreas(4.3)
  • Blood(3.6)
  • Spleen(3.5)
  • Bone marrow(3.5)
  • Lymph node(3.4)
  • Intestine(3)
  • Liver(2.4)
  • Lung(2.3)
  • Bone(2.1)
  • Heart(2.1)
  • Stomach(2.1)
  • Skin(2)
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
Chimpanzee
(Pan troglodytes)
Mammalia CD48 30 31
  • 99.31 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CD48 30 31
  • 72.36 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CD48 30 31
  • 71.87 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Cd48 30 17 31
  • 65.6 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cd48 30
  • 65.3 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia CD48 31
  • 21 (a)
OneToOne
Species where no ortholog for CD48 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CD48: view image

Paralogs for CD48 Gene

Paralogs for CD48 Gene

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

Variants for CD48 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CD48 Gene

SNP ID Clinical significance and condition Chr 01 pos Variation AA Info Type
767716 Benign: not provided 160,685,002(-) C/T SYNONYMOUS_VARIANT
780270 Benign: not provided 160,685,184(-) A/G SYNONYMOUS_VARIANT
789153 Benign: not provided 160,681,129(-) C/A MISSENSE_VARIANT,INTRON_VARIANT
rs16832307 - p.Leu241Ser
rs2295615 - p.Glu102Gln

Additional dbSNP identifiers (rs#s) for CD48 Gene

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
CD48

SNP Genotyping and Copy Number Assay Products

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

Disorders for CD48 Gene

MalaCards: The human disease database

(3) MalaCards diseases for CD48 Gene - From: DISEASES

Disorder Aliases PubMed IDs
lymphoproliferative syndrome, x-linked, 1
  • xlp1
cone-rod dystrophy 6
  • retinitis pigmentosa 6
leukemia, acute myeloid
  • aml
- elite association - COSMIC cancer census association via MalaCards
Search CD48 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CD48

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with CD48: view

No data available for 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 23
  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 23
  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 23
  4. Molecular cloning of the lymphocyte activation marker Blast-1. (PMID: 2828034) Staunton DE … Thorley-Lawson DA (The EMBO journal 1987) 2 3 4
  5. 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 (Journal of immunology (Baltimore, Md. : 1950) 2010) 3 23

Products for CD48 Gene

Sources for CD48 Gene