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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ADAMTSL3
ADAMTS like 3
Chromosome 15 · 15q25.2
NCBI Gene: 57188Ensembl: ENSG00000156218.14HGNC: HGNC:14633UniProt: P82987
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingextracellular matrixelastic fiberextracellular matrix organizationAbnormality of the skeletal systemasthmainjurysmoking behavior
✦AI Summary

ADAMTSL3 (ADAMTS-like 3) is a secreted extracellular matrix protein with diverse roles across multiple physiological systems. Structurally, it resembles ADAMTS proteases and contains thrombospondin-type domains 1. ADAMTSL3 mediates synaptic organization in the hippocampus through DCC (deleted in colorectal cancer) receptor signaling, selectively promoting GABAergic synapse function and activity-dependent plasticity via DCC phosphorylation and Src kinase activation 2. Genetically, ADAMTSL3 variants associate with lean body mass and appendicular muscle mass in large meta-analyses 3, and specific polymorphisms correlate with body measurement traits in cattle 4. The gene has broader tissue expression including epithelial cells, vascular endothelium, neurons, and cardiac myocytes 1. Disease relevance spans multiple conditions: schizophrenia-associated variants implicate altered DCC signaling and GABAergic function 52, reduced ADAMTSL3 expression occurs in colorectal cancer and correlates with poor survival outcomes 16, and decreased expression appears in periodontitis gingival tissues with hypermetylation 7. ADAMTSL3 may contribute to human cognitive evolution as a von Economo neuron marker gene 8. These findings suggest ADAMTSL3 functions as a multifaceted extracellular regulator critical for skeletal development, synaptic homeostasis, and tumor suppression.

Sources cited
1
ADAMTSL3 variants significantly associate with whole body and appendicular lean body mass in genome-wide association meta-analysis
PMID: 28724990
2
ADAMTSL3 is a candidate gene for schizophrenia with potentially causal variants identified through sequencing and imputation analysis
PMID: 21239144
3
Bovine ADAMTSL3 SNPs correlate with body measurement traits and tissue expression patterns
PMID: 21607618
4
Adamtsl3 mediates DCC signaling to promote GABAergic synapse function and activity-dependent plasticity relevant to schizophrenia
PMID: 37572323
5
ADAMTSL3 is a secreted glycoprotein widely expressed in epithelial, endothelial, neuronal and cardiac tissues with reduced expression in colorectal cancer
PMID: 17597111
6
ADAMTSL3 is identified as a primate-shared and human-specific von Economo neuron marker gene involved in primate brain evolution
PMID: 39631404
7
ADAMTSL3 expression is significantly decreased in gingival tissues from periodontitis patients correlating with disease stage
PMID: 36927684
8
ADAMTSL3 functions as a tumor suppressor gene; knockout promotes hepatocellular carcinoma proliferation and downregulation predicts poor survival
PMID: 32266537
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.50Moderate
asthmaOpen Targets
0.50Moderate
injuryOpen Targets
0.43Moderate
smoking behaviorOpen Targets
0.39Weak
chronic obstructive pulmonary diseaseOpen Targets
0.39Weak
respiratory system diseaseOpen Targets
0.36Weak
developmental dysplasia of the hipOpen Targets
0.32Weak
open-angle glaucomaOpen Targets
0.32Weak
Hammer Toe SyndromeOpen Targets
0.31Weak
peptic ulcer diseaseOpen Targets
0.31Weak
lower respiratory tract diseaseOpen Targets
0.29Weak
acute tonsillitisOpen Targets
0.29Weak
type 2 diabetes mellitusOpen Targets
0.29Weak
Chronic Obstructive AsthmaOpen Targets
0.29Weak
diverticular diseaseOpen Targets
0.28Weak
dyshidrosisOpen Targets
0.28Weak
adolescent idiopathic scoliosisOpen Targets
0.28Weak
retinopathyOpen Targets
0.28Weak
osteoarthritis, hipOpen Targets
0.27Weak
osteoarthritis, kneeOpen Targets
0.27Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
COL9A3Shared pathway100%COL15A1Shared pathway100%MATN2Shared pathway100%MIAShared pathway100%MATN4Shared pathway100%ADAMTSL5Shared pathway100%
Tissue Expression6 tissues
Heart
100%
Lung
67%
Liver
63%
Ovary
16%
Brain
12%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
ADAMTSL3COL9A3COL15A1MATN2MIAMATN4ADAMTSL5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P82987
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.69LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.59 [0.51–0.69]
RankingsWhere ADAMTSL3 stands among ~20K protein-coding genes
  • #11,844of 20,598
    Most Researched30
  • #5,238of 17,882
    Most Constrained (LOEUF)0.69
Genes detectedADAMTSL3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Large meta-analysis of genome-wide association studies identifies five loci for lean body mass.
PMID: 28724990
Nat Commun · 2017
1.00
2
ADAMTSL3 as a candidate gene for schizophrenia: gene sequencing and ultra-high density association analysis by imputation.
PMID: 21239144
Schizophr Res · 2011
0.90
3
Molecular characterization, expression pattern, polymorphism and association analysis of bovine ADAMTSL3 gene.
PMID: 21607618
Mol Biol Rep · 2012
0.80
4
Adamtsl3 mediates DCC signaling to selectively promote GABAergic synapse function.
PMID: 37572323
Cell Rep · 2023
0.70
5
ADAMTSL3/punctin-2, a gene frequently mutated in colorectal tumors, is widely expressed in normal and malignant epithelial cells, vascular endothelial cells and other cell types, and its mRNA is reduced in colon cancer.
PMID: 17597111
Int J Cancer · 2007
0.60