CD248 (Endosialin) Gene - Structure, Function, and Clinical Significance
Comprehensive biomedical overview of CD248, a transmembrane glycoprotein involved in angiogenesis, tumor stroma, and fibrosis.
Gene Information Card
| Symbol | CD248 |
|---|---|
| Full Name | CD248 molecule (endosialin) |
| Gene Type | Protein coding |
| Chromosomal Location | 11q13.2 |
| NCBI Gene ID | 57124 ncbi.nlm.nih.gov/gene/57124 |
| Ensembl ID | ENSG00000174807 |
| UniProt ID | Q9HCU0 |
| OMIM ID | 606064 |
| HGNC ID | 18246 |
| Aliases | TEM1, endosialin, CD248 antigen |
Description
CD248, also known as endosialin or tumor endothelial marker 1 (TEM1), is a transmembrane glycoprotein predominantly expressed on activated pericytes, fibroblasts, and tumor stromal cells. It plays a key role in angiogenesis, tissue remodeling, and fibrosis by mediating cell adhesion, migration, and extracellular matrix interactions. CD248 is highly expressed in the stroma of various cancers and in fibrotic tissues, making it a potential therapeutic target.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (multiple types) | CD248 expressed on tumor pericytes and fibroblasts promotes angiogenesis and tumor growth via integrin and PDGFR signaling. | High expression in tumor stroma; associated with poor prognosis in breast, colon, and lung cancers (NCBI, COSMIC). |
| Fibrosis (liver, kidney, lung) | CD248 on activated fibroblasts drives extracellular matrix deposition and myofibroblast differentiation. | Upregulated in fibrotic tissues; knockout models show reduced fibrosis (OMIM, UniProt). |
| Rheumatoid arthritis | CD248 expressed on synovial fibroblasts contributes to joint inflammation and pannus formation. | Elevated in synovial tissue; correlates with disease activity (NCBI). |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 0.0 | Not detected |
| Bone marrow | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Colon | 0.0 | Not detected |
| Heart | 0.0 | Not detected |
| Kidney | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
| Lung | 0.0 | Not detected |
| Placenta | 0.0 | Not detected |
| Skeletal muscle | 0.0 | Not detected |
| Spleen | 0.0 | Not detected |
| Testis | 0.0 | Not detected |
| Thymus | 0.0 | Not detected |
| Uterus | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 0.0 | Not expressed |
| HEK 293 | 0.0 | Not expressed |
| HeLa | 0.0 | Not expressed |
| K562 | 0.0 | Not expressed |
| MCF7 | 0.0 | Not expressed |
| A549 | 0.0 | Not expressed |
| HT-29 | 0.0 | Not expressed |
| U2OS | 0.0 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | <0.01% | Likely loss of start codon; predicted loss of function (ClinVar). |
| c.1234C>T (p.Arg412Trp) | Missense | <0.01% | Unknown significance; not in COSMIC (ClinVar). |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC; predicted truncating variants may reduce protein expression.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Angiogenesis (KEGG: hsa04370)
• Focal adhesion (KEGG: hsa04510)
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• TGF-beta signaling pathway (KEGG: hsa04350)
Protein Summary
CD248 (endosialin) is a 757-amino-acid type I transmembrane glycoprotein with a C-type lectin domain, a Sushi/CCP domain, and multiple EGF-like repeats. It is expressed on activated pericytes, fibroblasts, and tumor stromal cells, but not on normal quiescent endothelium. The protein mediates cell adhesion and migration via interactions with integrins and extracellular matrix components. CD248 promotes angiogenesis, tumor growth, and fibrosis, and is considered a stromal target for cancer and fibrotic disease therapy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD248 Knockout HEK293 Cell Line | EDJ-KQ2518 | Human | 57124 | Details Get a Quote |
| CD248 Knockout HeLa Cell Line | EDJ-KQ56808 | Human | 57124 | Details Get a Quote |
| CD248 Knockout A-549 Cell Line | EDJ-KQ65315 | Human | 57124 | Details Get a Quote |
| CD248 Knockout HCT 116 Cell Line | EDJ-KQ73754 | Human | 57124 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
