MDK (Midkine) Gene
A comprehensive overview of the MDK gene, including its genomic context, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | MDK |
|---|---|
| Full Name | Midkine (neurite growth-promoting factor 2) |
| Gene Type | protein-coding |
| Chromosomal Location | 11p11.2 |
| NCBI Gene ID | 4192 ncbi.nlm.nih.gov/gene/4192 |
| Ensembl ID | ENSG00000110448 |
| UniProt ID | P21741 |
| OMIM ID | 162095 |
| HGNC ID | 6972 |
| Aliases | MK, NEGF2, ARAP, FLJ27379 |
Description
The MDK gene encodes midkine, a heparin-binding growth factor that promotes cell growth, survival, migration, and angiogenesis. It is involved in neurodevelopment, inflammation, and cancer progression. MDK is overexpressed in many malignancies and is associated with poor prognosis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neuroblastoma | MDK overexpression promotes tumor growth and angiogenesis via PI3K/Akt and MAPK pathways. | PMID: 10445858 |
| Alzheimer disease | MDK is upregulated in brain regions affected by Alzheimer disease and may contribute to neuroinflammation and amyloid-beta toxicity. | PMID: 12684512 |
| Breast carcinoma | MDK expression correlates with tumor progression and metastasis through activation of Notch2 signaling. | PMID: 23359680 |
| Wilms tumor | MDK is overexpressed in Wilms tumor and may act as an autocrine growth factor. | PMID: 10376528 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | High |
| Kidney | 8.2 | Medium |
| Lung | 6.1 | Medium |
| Liver | 2.3 | Low |
| Heart | 1.8 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 15.3 | High expression |
| MCF7 (breast cancer) | 9.7 | Medium expression |
| A549 (lung cancer) | 7.4 | Medium expression |
| HEK293 (embryonic kidney) | 4.1 | Low expression |
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; functional impact unknown |
| c.214C>T (p.Arg72Trp) | missense | <0.01% | Rare variant; no known disease association |
| c.382G>A (p.Glu128Lys) | missense | <0.01% | Reported in COSMIC; uncertain significance |
Mutation functional classification
Loss of Function (LOF)
No well-characterized loss-of-function mutations reported in MDK.
Gain of Function (GOF)
Overexpression and amplification are common in cancers, suggesting gain-of-function effects.
Dominant Negative (DN)
No dominant-negative mutations described for MDK.
View complete mutation data：
Gene Ontology (GO)
| • GO:0008083 - growth factor activity | • GO:0008201 - heparin binding |
| • GO:0005515 - protein binding | • GO:0008284 - positive regulation of cell population proliferation |
| • GO:0043066 - negative regulation of apoptotic process | • GO:0001525 - angiogenesis |
| • GO:0007399 - nervous system development |
Pathways
• PI3K-Akt signaling pathway (KEGG: hsa04151)
• MAPK signaling pathway (KEGG: hsa04010)
• Focal adhesion (KEGG: hsa04510)
• Proteoglycans in cancer (KEGG: hsa05205)
Protein Summary
Midkine is a 13.4 kDa heparin-binding growth factor composed of two domains: an N-terminal domain and a C-terminal domain, each containing three antiparallel beta-sheets. It is secreted and interacts with cell surface receptors such as LRP1, PTPRZ1, and integrins. Midkine promotes cell survival, migration, and angiogenesis, and is implicated in neurodevelopment, inflammation, and tumorigenesis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MDK Knockout HEK293 Cell Line | EDJ-KQ50435 | Human | 4192 | Details Get a Quote |
| MDK Knockout HeLa Cell Line | EDJ-KQ53858 | Human | 4192 | Details Get a Quote |
| MDK Knockout A-549 Cell Line | EDJ-KQ62344 | Human | 4192 | Details Get a Quote |
| MDK Knockout HCT 116 Cell Line | EDJ-KQ70816 | Human | 4192 | Details Get a Quote |
| MDK Knockout A-549-FLUC Cell Line | EDC90273 | Human | 4192 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
