ADAMTSL5 Gene
ADAMTS Like 5
Gene Information Card
| Symbol | ADAMTSL5 |
|---|---|
| Full Name | ADAMTS like 5 |
| Gene Type | protein-coding |
| Chromosomal Location | 19p13.3 |
| NCBI Gene ID | 339366 ncbi.nlm.nih.gov/gene/339366 |
| Ensembl ID | ENSG00000185736 |
| UniProt ID | Q6ZMM2 |
| OMIM ID | 612516 |
| HGNC ID | 26304 |
| Aliases | ADAMTSL-5, MGC35130 |
Description
ADAMTSL5 (ADAMTS like 5) is a protein-coding gene located on chromosome 19p13.3. It encodes a member of the ADAMTS-like family, which shares structural similarity with ADAMTS proteases but lacks the catalytic protease domain. The protein is involved in extracellular matrix organization and cell-matrix interactions. ADAMTSL5 has been implicated in fibrillin microfibril assembly and may play a role in connective tissue homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Ehlers-Danlos syndrome, spondylodysplastic type, 3 | ADAMTSL5 mutations disrupt microfibril assembly leading to connective tissue fragility | OMIM #612516, ClinVar |
| Geleophysic dysplasia 3 | ADAMTSL5 variants impair TGF-beta signaling and extracellular matrix integrity | OMIM #617809, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 8.2 | Medium |
| Skeletal muscle | 6.5 | Medium |
| Lung | 4.1 | Low |
| Kidney | 3.8 | Low |
| Liver | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HUVEC (umbilical vein endothelial) | 5.0 | Low expression |
| HEK 293 (embryonic kidney) | 2.3 | Very low |
| K562 (leukemia) | 0.5 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.104C>T (p.Pro35Leu) | missense | <0.01% | Likely pathogenic in connective tissue disorders |
| c.487G>A (p.Gly163Arg) | missense | <0.01% | Uncertain significance |
| c.1234C>T (p.Arg412Trp) | missense | <0.01% | Reported in Geleophysic dysplasia |
Mutation functional classification
Loss of Function (LOF)
Missense mutations in ADAMTSL5 are predicted to disrupt protein folding and extracellular matrix binding, leading to loss of function in microfibril assembly.
Gain of Function (GOF)
No evidence of gain-of-function mutations in ADAMTSL5.
Dominant Negative (DN)
Dominant-negative effects have not been described for ADAMTSL5.
View complete mutation data：
Gene Ontology (GO)
| • extracellular matrix organization | • protein binding |
| • extracellular region | • microfibril assembly |
Pathways
• Extracellular matrix organization (Reactome: R-HSA-1474244)
• Assembly of collagen fibrils and other multimeric structures (Reactome: R-HSA-2022090)
Protein Summary
ADAMTSL5 is a secreted extracellular matrix protein that lacks protease activity. It contains thrombospondin type 1 repeats and an ADAMTS spacer-like domain. The protein localizes to microfibrils and interacts with fibrillin-1, contributing to the structural integrity of connective tissues. Mutations in ADAMTSL5 are associated with skeletal dysplasias and connective tissue disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ADAMTSL5 Knockout HEK293 Cell Line | EDJ-KQ11991 | Human | 339366 | Details Get a Quote |
| ADAMTSL5 Knockout HCT 116 Cell Line | EDJ-KQ39314 | Human | 339366 | Details Get a Quote |
| ADAMTSL5 Knockout A-549 Cell Line | EDJ-KQ40565 | Human | 339366 | Details Get a Quote |
| ADAMTSL5 Knockout HeLa Cell Line | EDJ-KQ40566 | Human | 339366 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
