1. Gene
  2. CD48 - CD48 molecule Gene

CD48 - CD48 molecule Gene

Homo sapiens

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

Gene ID: 962 | Gene type: protein coding

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

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

Recombinant CD48 Proteins

Cat. No. Product Name Accession Purity
HY-P71091 SLAMF2/CD48 Protein, Human (HEK293, mFc) P09326 (Q27-S220) ≥95%
HY-P72022 SLAMF2/CD48 Protein, Human (HEK293, hFc) P09326 (Q27-S220) ≥95%
HY-P73527 SLAMF2/CD48 Protein, Human (220a.a, HEK293, hFc) P09326 (M1-S220) ≥95%
HY-P72919 SLAMF2/CD48 Protein, Human (HEK293, His) P09326 (Q27-S220) ≥95%

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