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25 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DLK1
delta like non-canonical Notch ligand 1
Chromosome 14 · 14q32.2
NCBI Gene: 8788Ensembl: ENSG00000185559.17HGNC: HGNC:2907UniProt: A8K019
188PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
RESEARCH IMPACT
Trending
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
positive regulation of bone resorptionregulation of bone remodelingGO:0005615negative regulation of ossificationAbnormality of the skeletal systemosteoarthritispaternal uniparental disomy of chromosome 14Abnormality of refraction
✦AI Summary

DLK1 (delta-like non-canonical Notch ligand 1) is a membrane-bound protein that regulates multiple developmental processes through inhibition of TGF-β superfamily signaling rather than canonical Notch pathways. DLK1 directly binds to and antagonizes Activin receptor type 2B (ACVR2B), competing with canonical TGF-β ligands to inhibit downstream signaling 1. This mechanism promotes myoblast differentiation by blocking Myostatin-ACVR2B signaling and interferes with SMAD2/3-NICD complex formation, indirectly affecting Notch signaling 1. DLK1 plays critical roles in human development and disease, with haploinsufficiency causing variable neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and brain malformations 2. Mutations in DLK1 are associated with central precocious puberty 3, and paternal deletions encompassing DLK1 cause Temple syndrome characterized by growth delays and precocious puberty 4. In cancer contexts, DLK1 shows high expression in multiple solid tumors including neuroblastoma and adrenocortical carcinoma, where it regulates tumor cell plasticity and chemoresistance 56. DLK1-targeting antibody-drug conjugates demonstrate therapeutic potential in DLK1-expressing cancers 56. Additionally, DLK1 serves as a marker for adipose stem cell populations, with DLK1-negative cells showing enhanced proliferative and adipogenic capacity 7.

Sources cited
1
DLK1 directly binds ACVR2B and antagonizes Myostatin signaling, promoting myoblast differentiation
PMID: 40593645
2
DLK1 haploinsufficiency causes neurodevelopmental disorders with intellectual disability and brain malformations
PMID: 31353024
3
DLK1 mutations are associated with central precocious puberty
PMID: 30086862
4
Paternal DLK1 deletions cause Temple syndrome with growth delays and precocious puberty
PMID: 38715103
5
DLK1 is highly expressed in neuroblastoma and serves as an immunotherapeutic target
PMID: 39454577
6
DLK1 regulates tumor cell plasticity and chemoresistance in adrenocortical carcinoma
PMID: 40595495
7
DLK1 serves as a marker for adipose stem cell populations with different differentiation capacities
PMID: 33498986
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.44Moderate
osteoarthritisOpen Targets
0.37Weak
paternal uniparental disomy of chromosome 14Open Targets
0.33Weak
Abnormality of refractionOpen Targets
0.32Weak
Central precocious pubertyOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.29Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
myeloproliferative disorderOpen Targets
0.21Weak
clonal hematopoiesisOpen Targets
0.20Weak
genetic disorderOpen Targets
0.19Weak
Hodgkins lymphomaOpen Targets
0.17Weak
Silver-Russell syndromeOpen Targets
0.14Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.14Weak
cleft palateOpen Targets
0.14Weak
smoking initiationOpen Targets
0.12Weak
neoplasmOpen Targets
0.11Weak
diabetes mellitusOpen Targets
0.10Weak
adrenal cortex carcinomaOpen Targets
0.10Weak
hepatocellular carcinomaOpen Targets
0.10Weak
CachexiaOpen Targets
0.10Suggestive
Pathogenic Variants1
NM_003836.7(DLK1):c.357C>G (p.Tyr119Ter)Likely pathogenic
Central precocious puberty
☆☆☆☆2023→ Residue 119
View on ClinVar ↗
Related Genes
INSProtein interaction99%NOTCH1Protein interaction93%DIO3Protein interaction92%RTL1Protein interaction92%NOTCH2Protein interaction79%GRB10Protein interaction78%
Tissue Expression6 tissues
Ovary
100%
Brain
27%
Heart
1%
Liver
0%
Lung
0%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
DLK1INSNOTCH1DIO3RTL1NOTCH2GRB10
PROTEIN STRUCTURE
Preparing viewer…
PDB9D20 · 2.67 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.46Moderately Constrained
pLIⓘ
0.99Intolerant
Observed/Expected LoF0.26 [0.16–0.46]
RankingsWhere DLK1 stands among ~20K protein-coding genes
  • #2,278of 20,598
    Most Researched188 · top quartile
  • #4,733of 5,498
    Most Pathogenic Variants1
  • #2,607of 17,882
    Most Constrained (LOEUF)0.46 · top quartile
Genes detectedDLK1
Sources retrieved25 papers
Response time—
📄 Sources
25▼
1
Central precocious puberty: From genetics to treatment.
PMID: 30086862
Best Pract Res Clin Endocrinol Metab · 2018
1.00
2
A proteogenomic surfaceome study identifies DLK1 as an immunotherapeutic target in neuroblastoma.
PMID: 39454577
Cancer Cell · 2024
0.90
3
Advancements in the study of DLK1 in the pathogenesis of diabetes.
PMID: 40054732
Life Sci · 2025
0.84
4
Human-Specific NOTCH2NL Genes Expand Cortical Neurogenesis through Delta/Notch Regulation.
PMID: 29856955
Cell · 2018
0.80
5
Haploinsufficiency of the Notch Ligand DLL1 Causes Variable Neurodevelopmental Disorders.
PMID: 31353024
Am J Hum Genet · 2019
0.70