CD48

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CD48
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl
UniProt
RefSeq (mRNA)

NM_001256030
NM_001778

NM_007649
NM_001360767

RefSeq (protein)

NP_001242959
NP_001769

NP_031675
NP_001347696

Location (UCSC)Chr 1: 160.68 – 160.71 MbChr 1: 171.51 – 171.53 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

CD48 antigen (Cluster of Differentiation 48) also known as B-lymphocyte activation marker (BLAST-1) or signaling lymphocytic activation molecule 2 (SLAMF2) is a protein that in humans is encoded by the CD48 gene.[5]

CD48 is a member of the

endothelial cells, and participates in activation and differentiation pathways in these cells.[5]

CD48 was the first B-cell-specific cellular differentiation antigen identified in transformed B lymphoblasts.[6][7]

Structure

The gene for CD48 is located in

glycosylated, with five possible asparagine-linked glycosylation sites at positions 40, 44, 104, 162 and 189, respectively.[6][7][8][12][13] Approximately 35-40% of the total molecular weight is attributed to the carbohydrate side chains.[12][13][14]

Interactions

CD48 was found to have a very low affinity for CD2 with dissociation constant () < 0.5 mM.

natural killer cells (NK cells) and other leukocytes. The affinity of CD244
for CD48 is at = 8 μM which is about 5 - 10 times stronger than for CD2.[16][17][18]

Function

Cell distribution

CD48 is expressed on all

erythrocytes
(red blood cells).

T-cell activation

CD48 and CD2 molecular coupling together with other interaction pairs of CD28 and CD80, TCR and peptide-MHC and LFA-1 and ICAM-1 contribute to the formation of an immunological synapse between a T cell and an

macrophages through cell signal transduction via GPI moieties.[21][22]

Clinical significance

CD48 is being investigated amongst other markers in research on inflammation markers and therapies for HIV/AIDS.

Heterozygous germline mutation in a patient was associated with a recurrent inflammatory syndrome resembling hemophagocytic lymphohistiocytosis.[23]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000117091Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000015355Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b c "Entrez Gene: CD48 CD48 molecule".
  6. ^
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  23. ^ Volkmer B, Planas R, Gossweiler E, Opitz L, Mauracher A, Nüesch U, Gayden T, Kaiser D, Drexel B, Dumrese C, Jabado N, Vavassori S, Pachlopnik Schmid J: Recurrent inflammatory disease caused by a heterozygous mutation in CD48. J Allergy Clin Immunol. 2019;144(5):1441-1445.e17. doi:10.1016/j.jaci.doi:10.1016/j.jaci.2019.07.038

Further reading

External links

This article incorporates text from the United States National Library of Medicine, which is in the public domain.

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