CD48 (CD48 molecule)

Gene Gene information from NCBI Gene database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 962
Gene name CD48 molecule
Gene symbol CD48
Synonyms (NCBI Gene)
BCM1BLASTBLAST1MEM-102SLAMF2hCD48mCD48
Chromosome 1
Chromosome location 1q23.3
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 a
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
18
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (18)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 12356317, 15153464, 16002700, 18296487
GO:0005576 Component Extracellular region IEA
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS 1693656, 2828034
GO:0006952 Process Defense response TAS 2828034
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
109530 1683 ENSG00000117091
Protein Protein information from UniProt database.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P09326
Protein 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)
Protein function Glycosylphosphatidylinositol (GPI)-anchored cell surface glycoprotein that interacts via its N-terminal immunoglobulin domain with cell surface receptors including CD244/2B4 or CD2 to regulate immune cell function and activation (PubMed:12007789
PDB 2EDO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 30 → 128 Immunoglobulin V-set domain Domain
PF13895 Ig_2 133 → 218 Immunoglobulin domain Domain
Tissue specificity TISSUE SPECIFICITY: Widely expressed on all hematopoietic cells. {ECO:0000269|PubMed:9893294}.
Sequence
Sequence length 243
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Natural killer cell mediated cytotoxicity   Cell surface interactions at the vascular wall
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
7
Gene Gene ontology Other IDs Protein Pathways Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (7)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
HYPOTHYROIDISM — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL — CTD
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG ADENOCARCINOMA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
LUNG CANCER — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (65)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 12653584
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 12653584
★★★★★
★☆☆☆☆
Found in Text Mining only
Angiolymphoid hyperplasia Angiolymphoid Hyperplasia BEFREE 29223447
★★★★★
★☆☆☆☆
Found in Text Mining only
Aplastic Anemia Aplastic anemia BEFREE 16467865, 7858265
★★★★★
★☆☆☆☆
Found in Text Mining only
Arnold-Chiari Malformation, Type I Arnold-Chiari malformation BEFREE 29788393
★★★★★
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 39662827 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Asthma Asthma BEFREE 25255823, 27859399, 30306094
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Autoimmune Lymphoproliferative Disorder BEFREE 17062728
★★★★★
★☆☆☆☆
Found in Text Mining only
Autoimmune Lymphoproliferative Syndrome Autoimmune lymphoproliferative disorder Pubtator 17725802 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Beckwith-Wiedemann Syndrome Beckwith-Wiedemann Syndrome BEFREE 11054561
★★★★★
★☆☆☆☆
Found in Text Mining only