CD48 - CD48 molecule Gene

Also Known as BCM1; BLAST; hCD48; mCD48; BLAST1; SLAMF2; MEM-102

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 962

About CD48

Cytogenetic location: 1q23.3 Genomic coordinates (GRCh38): 1:160,678,746-160,711,822 (from NCBI)

This gene has 3 transcripts (splice variants), 262 orthologues and 9 paralogues. Biased expression in lymph node (RPKM 70.5), spleen (RPKM 47.2) and 9 other tissues.

Summary

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]

CD48 Products (2)

mRNA Protein Name
NM_001256030.2 NP_001242959.1 CD48 antigen isoform 2 precursor
NM_001778.4 NP_001769.2 CD48 antigen isoform 1 precursor
Molecular Function GO Annotation Evidence References Source
enables protein binding IPI
IPI: Inferred from physical interaction
12356317 GOA
enables receptor ligand activity IDA
IDA: Inferred from direct assay
27249817 GOA
Biological Process GO Annotation Evidence References Source
involved in natural killer cell activation IDA
IDA: Inferred from direct assay
27249817 GOA
Cellular Component GO Annotation Evidence References Source
is active in membrane raft IDA
IDA: Inferred from direct assay
12007789 GOA
located in membrane raft IDA
IDA: Inferred from direct assay
11313396 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

CD48 Protein Structure

V-set

V-set: Immunoglobulin V-set domain (32 - 123)

Ig_2

Ig_2: Immunoglobulin domain (134 - 206)

  • 0
  • 100
  • 200
  • 243 a.a.
Protein Preferred Names Protein Names

CD48 antigen

  • B-lymphocyte activation marker BLAST-1

CD48 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method References
Intra
CD48 P09326 CD244 Homo sapiens Q9BZW8 18296487
Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant CD48 Proteins

Cat. No. Product Name Accession Purity
HY-P71091 SLAMF2/CD48 Protein, Human (HEK293, mFc) P09326 (Q27-S220) ≥ 95%, as determined by reducing SDS-PAGE.
HY-P72022 SLAMF2/CD48 Protein, Human (HEK293, hFc) P09326 (Q27-S220) ≥ 90%, as determined by reducing SDS-PAGE.
HY-P72919 SLAMF2/CD48 Protein, Human (HEK293, His) P09326 (Q27-S220) ≥ 95%, as determined by reducing SDS-PAGE.

CD48 Antibodies

Cat. No. Product Name Application Reactivity
HY-P81366 CD48 Antibody (YA1111) IHC-P Human
HY-P81366A CD48 Antibody (YA1111)(PBS only) IHC-P Human
HY-P84996 CD48 Antibody (YA4688) ELISA, FC Human

Related Diseases

Diseases Alias
Lymphoproliferative Syndrome, X-Linked, 1
  • Lymphomatoid Papulosis

  • Duncan Disease

  • Purtilo Syndrome

  • X-Linked Lymphoproliferative Syndrome

  • Xlp

  • X-Linked Lymphoproliferative Disease

  • XLP1

  • Lyp

  • Lymphoproliferative Disease, X-Linked

  • Xlpd

  • X-Linked Lymphoproliferative Disease Due To Sh2d1a Deficiency

  • Ebv Infection, Severe, Susceptibility To

  • Ebvs

  • Immunodeficiency 5

  • Imd5

  • X-Linked Lymphoproliferative Syndrome 1

  • Epstein-Barr Virus Infection, Familial Fatal

  • Ebv Infection, Severe

  • Infectious Mononucleosis, Severe

  • Infectious Mononucleosis, Severe, Susceptibility To

  • Immunodeficiency, X-Linked Progressive Combined Variable

  • Epstein Barr Virus Infection, Familial Fatal

  • X-Linked Progressive Combined Variable Immunodeficiency 5

  • Epstein-Barr Virus-Induced Lymphoproliferative Disease In Males

  • Familial Fatal Epstein-Barr Infection

  • Severe Susceptibility To Ebv Infection

  • Severe Susceptibility To Infectious Mononucleosis

  • Sap Deficiency

  • Sh2d1a/Slam-Associated Protein Deficiency

  • X-Linked Lymphoproliferative Syndrome Type 1

  • X-Linked Progressive Combined Variable Immunodeficiency

  • Lymphoproliferative Syndrome, X-Linked

  • Sap

  • X-Linked Lymphoproliferative Disorder

Leukemia, Acute Myeloid
  • Acute Myeloid Leukemia

  • Leukemia, Acute Myelogenous

  • Acute Myelogenous Leukemia

  • AML

  • Leukemia, Acute Myeloid, Susceptibility To

  • Acute Myeloblastic Leukemia

  • Leukemia, Acute Myeloid, Reduced Survival In, Somatic

  • Acute Myeloid Leukaemia

  • Leukemia, Myelocytic, Acute

  • Therapy Related Acute Myeloid Leukemia And Myelodysplastic Syndrome

  • Secondary Aml

  • Acute Myelocytic Leukemia

  • Acute Myeloid Leukemia, Somatic

  • Leukemia, Acute Myeloid, Somatic

  • Myeloid Leukemia, Acute, M4/M4eo Subtype, Somatic

  • Acute Myeloblastic Leukaemia

  • Acute Myelogenous Leukaemia

  • Aml - Acute Myeloid Leukemia

  • Acute Myeloid Leukemia With Cebpa Somatic Mutations

  • Aml With Cebpa Somatic Mutations

  • Inherited Acute Myeloid Leukemia

  • Familial Aml

  • Inherited Aml

  • Pure Familial Aml

  • Pure Familial Acute Myeloid Leukemia

  • Secondary Acute Myeloid Leukemia

  • Therapy-Related Aml And Myelodysplastic Syndrome

  • Acute Myeloid Leukemia, Secondary

  • Acute Non-Lymphoblastic Leukemia

  • Acute Non-Lymphocytic Leukemia

  • Acute Biphenotypic Leukemia

  • Acute Undifferentiated Leukemia

  • Acute Myeloblastic Leukaemia With Multilineage Dysplasia

  • Acute Myeloid Leukaemia With Multilineage Dysplasia Without Mention Of Remission

  • Acute Myeloid Leukaemia With Myelodysplasia-Related Features

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Bos taurus CD48 VGNC VGNC:27036
Macaca mulatta CD48 VGNC VGNC:70769
Mus musculus CD48 MGD MGI:88339
Rattus norvegicus CD48 RGD RGD:620620
Felis catus CD48 VGNC VGNC:107848
Canis familiaris CD48 VGNC VGNC:38961
Others CD48 NCBI