DLK2: Delta Like Non-Canonical Notch Ligand 2
A comprehensive biomedical resource for DLK2 gene, including genomic annotation, expression, mutations, and associated diseases.
Gene Information Card
| Symbol | DLK2 |
|---|---|
| Full Name | delta like non-canonical Notch ligand 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 65989 ncbi.nlm.nih.gov/gene/65989 |
| Ensembl ID | ENSG00000112210 |
| UniProt ID | Q6UY14 |
| OMIM ID | 616567 |
| HGNC ID | 29000 |
| Aliases | DLK2, EGFL9, MEGF11, delta-like 2 homolog (Drosophila) |
Description
DLK2 (delta like non-canonical Notch ligand 2) is a protein-coding gene that encodes a member of the delta/notch-like family. The protein acts as a non-canonical ligand for Notch receptors, modulating Notch signaling in processes such as cell differentiation, proliferation, and neurodevelopment. DLK2 is expressed in various tissues and has been implicated in cancer and developmental disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | DLK2 overexpression or mutation may alter Notch signaling, promoting tumorigenesis | COSMIC, ClinVar |
| Neurodevelopmental disorders | DLK2 variants may disrupt Notch-mediated neuronal differentiation | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Lung | 8.2 | Low |
| Liver | 3.1 | Low |
| Kidney | 6.7 | Low |
| Testis | 15.3 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 7.5 | Low expression |
| SH-SY5Y | 14.8 | High expression (neuronal) |
| A549 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.101C>T (p.Thr34Met) | Missense | <0.01% | Unknown functional impact |
| c.205G>A (p.Gly69Ser) | Missense | <0.01% | Reported in ClinVar as uncertain significance |
| c.457_459del (p.Lys153del) | In-frame deletion | <0.01% | Potential loss of function |
Mutation functional classification
Loss of Function (LOF)
In-frame deletions or nonsense mutations that disrupt the EGF-like domains may impair ligand-receptor interaction.
Gain of Function (GOF)
Missense mutations in the DSL domain may enhance Notch binding and signaling.
Dominant Negative (DN)
Truncated forms of DLK2 could interfere with wild-type ligand function.
View complete mutation data：
Gene Ontology (GO)
| • Notch binding | • calcium ion binding |
| • plasma membrane | • regulation of Notch signaling pathway |
| • cell differentiation |
Pathways
• Notch signaling pathway
• Developmental biology
Protein Summary
The DLK2 protein is a single-pass type I membrane protein containing EGF-like repeats and a DSL domain, characteristic of Notch ligands. It localizes to the plasma membrane and modulates Notch receptor activity in a non-canonical manner, influencing cell fate decisions during development and tissue homeostasis.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DLK2 Knockout Huh-7 Cell Line | EDJ-KQ44 | Human | 65989 | Details Get a Quote |
| DLK2 Knockout HEK293 Cell Line | EDJ-KQ13159 | Human | 65989 | Details Get a Quote |
| DLK2 Knockout A-549 Cell Line | EDJ-KQ42495 | Human | 65989 | Details Get a Quote |
| DLK2 Knockout HCT 116 Cell Line | EDJ-KQ42496 | Human | 65989 | Details Get a Quote |
| DLK2 Knockout HeLa Cell Line | EDJ-KQ57111 | Human | 65989 | Details Get a Quote |
