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

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	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	Reference	Source
involved in natural killer cell activation	IDA IDA: Inferred from direct assay	27249817	GOA

Cellular Component GO Annotation	Evidence	Reference	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

Ig_2

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 Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	CD48	P09326	CD244	Homo sapiens	Q9BZW8	Solid Phase Assay	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%
HY-P72022	SLAMF2/CD48 Protein, Human (HEK293, hFc)	P09326 (Q27-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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS02251	CD48 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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