• Gene id: 962

Gene Summary

• Gene Symbol: CD48   Gene   UCSC   Ensembl
• Aliases: BCM1, BLAST, BLAST1, MEM-102, SLAMF2, hCD48, mCD48
• Gene name: CD48 molecule
• Alternate names: CD48 antigen, 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,
• Gene location: 1q23.3 (160711850: 160678745)     Exons: 4     NC_000001.11
• Gene summary(Entrez): 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 a
• OMIM: 109530

Protein Summary

• Protein general information: P09326  
  • Name: CD48 antigen (B lymphocyte activation marker BLAST 1) (BCM1 surface antigen) (Leukocyte antigen MEM 102) (SLAM family member 2) (SLAMF2) (Signaling lymphocytic activation molecule 2) (TCT.1) (CD antigen CD48)
  • Length: 243  
  • Mass: 27683
• Sequence:

  MCSRGWDSCLALELLLLPLSLLVTSIQGHLVHMTVVSGSNVTLNISESLPENYKQLTWFYTFDQKIVEWDSRKSK
  YFESKFKGRVRLDPQSGALYISKVQKEDNSTYIMRVLKKTGNEQEWKIKLQVLDPVPKPVIKIEKIEDMDDNCYL
  KLSCVIPGESVNYTWYGDKRPFPKELQNSVLETTLMPHNYSRCYTCQVSNSVSSKNGTVCLSPPCTLARSFGVEW
  IASWLVVTVPTILGLLLT

• Structural information:
  • Protein Domains: (29..12-)
    1 (/note="Ig-like-C2-type)
    (132..21-)
    2" (/note="Ig-like-C2-type)
  • Interpro: IPR033548  IPR007110  IPR036179  IPR013783  IPR003599   IPR013106  
  • Prosite: PS50835
  • PDB: 2EDO
  • PDBsum: 2EDO
  • STRING: ENSP00000484431
• Other Databases: GeneCards:  CD48  Malacards:  CD48

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0031226	intrinsic component of plasma membrane	TAS	cellular component
GO:0002819	regulation of adaptive immune response	IEA	biological process
GO:0038023	signaling receptor activity	IEA	molecular function
GO:0003823	antigen binding	IEA	molecular function
GO:0031225	anchored component of membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006952	defense response	TAS	biological process
GO:0005886	plasma membrane	TAS	cellular component
GO:0050900	leukocyte migration	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005886	plasma membrane	IEA	cellular component
GO:0045121	membrane raft	IDA	cellular component
GO:0070062	extracellular exosome	HDA	cellular component
GO:0016020	membrane	HDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04650	Natural killer cell mediated cytotoxicity

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R