Format

Send to:

Choose Destination

CD48 CD48 molecule [ Homo sapiens (human) ]

Gene ID: 962, updated on 8-May-2016
Official Symbol
CD48provided by HGNC
Official Full Name
CD48 moleculeprovided by HGNC
Primary source
HGNC:HGNC:1683
See related
Ensembl:ENSG00000117091 HPRD:00177; MIM:109530; Vega:OTTHUMG00000024009
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BCM1; BLAST; hCD48; mCD48; BLAST1; SLAMF2; MEM-102
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]
Orthologs
Location:
1q21.3-q22
Exon count:
5
Annotation release Status Assembly Chr Location
107 current GRCh38.p2 (GCF_000001405.28) 1 NC_000001.11 (160678746..160711851, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (160648536..160681641, complement)

Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene signaling lymphocytic activation molecule family member 1 Neighboring gene SET pseudogene 9 Neighboring gene endogenous retrovirus group K member 8 Gag polyprotein-like Neighboring gene SLAM family member 7 Neighboring gene uncharacterized LOC105371470

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

NHGRI GWAS Catalog

Description
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
NHGRI GWA Catalog

Protein interactions

Protein Gene Interaction Pubs
Nef nef Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD48 (SLAMF2) PubMed
Vpu vpu Both HIV-1 Nef and Vpu downregulate the cell surface expression of CD48 (SLAMF2) PubMed

Go to the HIV-1, Human Interaction Database

  • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
    Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
  • Gastric cancer network 2, organism-specific biosystem (from WikiPathways)
    Gastric cancer network 2, organism-specific biosystemNetwork generated by mapping candidate oncogenes and tumor suppressor genes identified by integrated analysis of expression array and aCGH data. Network generated by Ingenuity Pathway Analysis.
  • Hemostasis, organism-specific biosystem (from REACTOME)
    Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
  • Natural killer cell mediated cytotoxicity, organism-specific biosystem (from KEGG)
    Natural killer cell mediated cytotoxicity, organism-specific biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
  • Natural killer cell mediated cytotoxicity, conserved biosystem (from KEGG)
    Natural killer cell mediated cytotoxicity, conserved biosystemNatural killer (NK) cells are lymphocytes of the innate immune system that are involved in early defenses against both allogeneic (nonself) cells and autologous cells undergoing various forms of stre...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
defense response TAS
Traceable Author Statement
more info
PubMed 
leukocyte migration TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
anchored component of membrane IEA
Inferred from Electronic Annotation
more info
 
extracellular exosome IDA
Inferred from Direct Assay
more info
PubMed 
integral component of plasma membrane TAS
Traceable Author Statement
more info
PubMed 
membrane IDA
Inferred from Direct Assay
more info
PubMed 
membrane raft IDA
Inferred from Direct Assay
more info
PubMed 
plasma membrane TAS
Traceable Author Statement
more info
 
Preferred Names
CD48 antigen
Names
B-lymphocyte activation marker BLAST-1
BCM1 surface antigen
CD48 antigen (B-cell membrane protein)
SLAM family member 2
TCT.1
leukocyte antigen MEM-102
signaling lymphocytic activation molecule 2

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001256030.1NP_001242959.1  CD48 antigen isoform 2 precursor

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 3' UTR and coding region compared to variant 1. The resulting protein (isoform 2) is longer and has a distinct C-terminus compared to isoform 1.
    Source sequence(s)
    AK225636, AL121985
    Consensus CDS
    CCDS72955.1
    UniProtKB/TrEMBL
    A0A087X1S7
    Related
    ENSP00000484431, OTTHUMP00000276397, ENST00000613788, OTTHUMT00000476976
    Conserved Domains (3) summary
    cd05741
    Location:38127
    Ig_CEACAM_D1_like; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM) and similar proteins
    smart00410
    Location:32127
    IG_like; Immunoglobulin like
    pfam13895
    Location:133205
    Ig_2; Immunoglobulin domain
  2. NM_001778.3NP_001769.2  CD48 antigen isoform 1 precursor

    See identical proteins and their annotated locations for NP_001769.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the shorter transcript and encodes the shorter protein (isoform 1).
    Source sequence(s)
    AL121985, BC016182, BG505217
    Consensus CDS
    CCDS1208.1
    UniProtKB/Swiss-Prot
    P09326
    Related
    ENSP00000357025, OTTHUMP00000025680, ENST00000368046, OTTHUMT00000060471
    Conserved Domains (3) summary
    cd05741
    Location:38127
    Ig_CEACAM_D1_like; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM) and similar proteins
    smart00410
    Location:32127
    IG_like; Immunoglobulin like
    pfam13895
    Location:133205
    Ig_2; Immunoglobulin domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107 details...

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p2 Primary Assembly

Genomic

  1. NC_000001.11 Reference GRCh38.p2 Primary Assembly

    Range
    160678746..160711851 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011510171.1XP_011508473.1  

    Conserved Domains (3) summary
    cd05741
    Location:695
    Ig_CEACAM_D1_like; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM) and similar proteins
    smart00410
    Location:195
    IG_like; Immunoglobulin like
    pfam13895
    Location:101173
    Ig_2; Immunoglobulin domain
  2. XM_005245625.1XP_005245682.1  

    Conserved Domains (2) summary
    cd05741
    Location:38127
    Ig_CEACAM_D1_like; First immunoglobulin (Ig)-like domain of carcinoembryonic antigen (CEA) related cell adhesion molecule (CEACAM) and similar proteins
    smart00410
    Location:32127
    IG_like; Immunoglobulin like

Alternate CHM1_1.1

Genomic

  1. NC_018912.2 Alternate CHM1_1.1

    Range
    162043866..162076982 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)