CD34: A Key Hematopoietic Stem Cell Marker and Adhesion Molecule
Comprehensive genomic, expression, and clinical insights into CD34, a sialomucin marker of hematopoietic stem and progenitor cells.
Gene Information Card
| Symbol | CD34 |
|---|---|
| Full Name | CD34 molecule |
| Gene Type | Protein coding |
| Chromosomal Location | 1q32.2 |
| NCBI Gene ID | 947 ncbi.nlm.nih.gov/gene/947 |
| Ensembl ID | ENSG00000174059 |
| UniProt ID | P28906 |
| OMIM ID | 142230 |
| HGNC ID | 1663 |
| Aliases | CD34 antigen, hematopoietic progenitor cell antigen CD34, M1S1, sialomucin |
Description
The CD34 gene encodes a transmembrane sialomucin protein that is a well-established marker for hematopoietic stem and progenitor cells (HSPCs). CD34 is involved in cell adhesion, migration, and maintenance of progenitor cell phenotype. It is also expressed on vascular endothelial cells and some mesenchymal stromal cells. CD34 is widely used clinically for the selection and enumeration of HSPCs for bone marrow transplantation and for the diagnosis and classification of leukemias and vascular tumors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Acute myeloid leukemia (AML) | CD34 is expressed on leukemic blasts in a significant proportion of AML cases; high expression is associated with poor prognosis and immature phenotype. | ClinVar, COSMIC, literature |
| Myelodysplastic syndromes (MDS) | CD34 expression on bone marrow blasts is used for diagnosis and risk stratification; increased CD34+ cells correlate with disease progression. | ClinVar, literature |
| Angiosarcoma | CD34 is expressed in vascular tumors including angiosarcoma, aiding in histopathological diagnosis. | UniProt, literature |
| Gastrointestinal stromal tumor (GIST) | CD34 is positive in a subset of GISTs, used in immunohistochemical panels for differential diagnosis. | UniProt, literature |
| Kaposi sarcoma | CD34 expression is seen in spindle cells of Kaposi sarcoma, supporting vascular origin. | UniProt, literature |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Bone Marrow | High | High |
| Spleen | Medium | Medium |
| Lymph Node | Medium | Medium |
| Thymus | Medium | Medium |
| Blood | Low | Low |
| Liver | Low | Low |
| Lung | Low | Low |
| Kidney | Low | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| K-562 (CML) | Low | CD34 expression is low in this cell line |
| HL-60 (AML) | Low | CD34 expression is low in this cell line |
| MOLT-4 (ALL) | Low | CD34 expression is low in this cell line |
| A549 (Lung carcinoma) | Low | CD34 expression is low in this cell line |
| HUVEC (Endothelial) | High | CD34 is highly expressed in endothelial cells |
| MSC (Mesenchymal stem cell) | Medium | CD34 is expressed at moderate levels in some MSC populations |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Ser41Leu) | Missense | Rare | Unknown; not reported in ClinVar or COSMIC |
| c.456G>A (p.Thr152Thr) | Synonymous | Rare | No functional effect |
| c.789_790insA (p.Leu264ThrfsTer5) | Frameshift | Very rare | Predicted loss of function; not associated with disease |
| c.1000C>T (p.Arg334Trp) | Missense | Rare | Unknown; not reported in ClinVar or COSMIC |
Mutation functional classification
Loss of Function (LOF)
No pathogenic loss-of-function mutations have been reported in ClinVar or COSMIC. CD34 knockout in mice shows normal hematopoiesis, suggesting functional redundancy.
Gain of Function (GOF)
No gain-of-function mutations have been described. CD34 overexpression in tumors is generally due to transcriptional regulation, not mutation.
Dominant Negative (DN)
No dominant-negative mutations have been reported.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Hematopoietic stem cell differentiation
• Cell adhesion molecules (CAMs)
• Leukocyte transendothelial migration
• PI3K-Akt signaling pathway (indirect via adhesion)
Protein Summary
The CD34 protein is a heavily glycosylated type I transmembrane sialomucin. It consists of a large extracellular domain with multiple O-glycosylation sites, a single transmembrane domain, and a short cytoplasmic tail. CD34 is expressed on the surface of hematopoietic stem and progenitor cells, vascular endothelial cells, and some fibroblasts. It functions as an adhesion molecule, mediating cell-cell and cell-matrix interactions, and is involved in maintaining the undifferentiated state of progenitor cells. CD34 is also a ligand for L-selectin, playing a role in leukocyte rolling and homing. The protein is widely used as a marker for stem cell isolation and enumeration in clinical transplantation.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| CD34 Knockout HEK293 Cell Line | EDJ-KQ2227 | Human | 947 | Details Get a Quote |
| CD34 Knockout HeLa Cell Line | EDJ-KQ52835 | Human | 947 | Details Get a Quote |
| CD34 Knockout A-549 Cell Line | EDJ-KQ61305 | Human | 947 | Details Get a Quote |
| CD34 Knockout HCT 116 Cell Line | EDJ-KQ69799 | Human | 947 | Details Get a Quote |
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