GENE REFERENCE / HGNC:14631

ADAMTSL2

ADAMTS like 2

protein-coding gene9q34.2Gene information

What does this gene do?

The ADAMTSL2 gene provides instructions for making a protein whose exact function is unknown. The ADAMTSL2 protein is active in many different tissues and is found in the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells.

Studies suggest that the ADAMTSL2 protein interacts with a protein called latent transforming growth factor beta-binding protein 1 (LTBP1). The LTBP1 protein is involved in the storage of another protein called transforming growth factor beta (TGF-β). TGF-β helps regulate important cell processes, including the growth and division (proliferation) of cells, the process by which cells mature to carry out specific functions (differentiation), cell movement, and the self-destruction of cells (apoptosis).

The interaction between the ADAMTSL2 and LTBP1 proteins suggests that ADAMTSL2 may play a role in the microfibrillar network. This organized arrangement of thread-like filaments (microfibrils) within the extracellular matrix provides strength and flexibility to tissues throughout the body.

Researchers also suspect that the ADAMTSL2 protein may help regulate the availability of TGF-β, which is stored in the microfibrillar network. Once released from the microfibrillar network, TGF-β activates important signaling pathways, including the signaling pathways involved in bone formation.

Source: MedlinePlus, National Library of Medicine. Source publication: 2026-02-25. Source review: 2026-02.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 424
Submissions for variants in or overlapping this gene: 675
Submissions explicitly reporting this gene: 598
Alleles reported pathogenic / likely pathogenic: 25
VariationIDs with uncertain significance: 207
VariationIDs with conflicting classifications: 36

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about ADAMTSL2?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 25 alleles in ADAMTSL2 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in ADAMTSL2.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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