ADAMTSL3 Gene

HGNC Family	Immunoglobulin superfamily domain containing
Name	ADAMTS-like 3
Description	Predicted to be involved in extracellular matrix organization. Located in intracellular membrane-bounded organelle. [provided by Alliance of Genome Resources, Mar 2025]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n ADAMTSL3 is a secreted, multidomain glycoprotein that belongs to the ADAMTS‐like family, a group of proteins that, although lacking the protease domain found in ADAMTS enzymes, share a similar ancillary domain organization and are localized in the extracellular matrix (ECM). Several genome‐wide association studies have implicated ADAMTSL3 in the regulation of human height, suggesting that it may contribute to longitudinal growth through modulation of extracellular matrix composition and cell–matrix interactions in the growth plate [(1, 3)]. Biochemical and cellular characterizations indicate that ADAMTSL3 (also known as punctin‐2) is widely expressed in adult tissues such as liver, kidney, heart, and skeletal muscle, and is deposited in the ECM where its unique arrangement of thrombospondin type I repeats may facilitate specific cell–matrix or matrix–matrix interactions [(2)]. In addition, alterations in ADAMTSL3 expression or sequence variation have been associated with a range of disorders. For instance, genetic variants in ADAMTSL3 have been linked to schizophrenia, with fine‐mapping studies highlighting a potentially causal variant (rs950169) that may disrupt its normal function [(4)]. Moreover, reduced levels of ADAMTSL3 have been observed in degenerative intervertebral disks and in colorectal carcinoma tissues, implying that appropriate ADAMTSL3 function is important for maintaining ECM integrity and normal cellular differentiation in both musculoskeletal and epithelial contexts [(5, 6)]. Finally, through its capacity to interact with fibrillin‐1 and related molecules, ADAMTSL3 likely participates in the fine‐tuning of local tissue microenvironments, which may have broader implications for growth regulation and disease processes such as Weill–Marchesani syndrome, where proper microfibril formation is essential [(7)]. \n "}]}, {"type": "t", "text": "\n "}, {"type": "p", "children": [{"type": "t", "text": "\n (1)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "1"}]}, {"type": "t", "text": ", (2)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": ", (3)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "3"}]}, {"type": "t", "text": ", (4)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": ", (5)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": ", (6)"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "6"}]}, {"type": "t", "text": ", (7)."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Michael N Weedon, Hana Lango, Cecilia M Lindgren, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association analysis identifies 20 loci that influence adult height."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2008)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.121"}], "href": "https://doi.org/10.1038/ng.121"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18391952"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18391952"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Nina G Hall, Philip Klenotic, Bela Anand-Apte, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ADAMTSL-3/punctin-2, a novel glycoprotein in extracellular matrix related to the ADAMTS family of metalloproteases."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Matrix Biol (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/s0945-053x(03)00075-1"}], "href": "https://doi.org/10.1016/s0945-053x(03"}, {"type": "t", "text": "00075-1) PMID: "}, {"type": "a", "children": [{"type": "t", "text": "14667842"}], "href": "https://pubmed.ncbi.nlm.nih.gov/14667842"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Jimmy Z Liu, Sarah E Medland, Margaret J Wright, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association study of height and body mass index in Australian twin families."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Twin Res Hum Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1375/twin.13.2.179"}], "href": "https://doi.org/10.1375/twin.13.2.179"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20397748"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20397748"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "David J Dow, Julie Huxley-Jones, Jamie M Hall, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ADAMTSL3 as a candidate gene for schizophrenia: gene sequencing and ultra-high density association analysis by imputation."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Schizophr Res (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.schres.2010.12.009"}], "href": "https://doi.org/10.1016/j.schres.2010.12.009"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21239144"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21239144"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Helen E Gruber, Gretchen L Hoelscher, Jane A Ingram, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variations in aggrecan localization and gene expression patterns characterize increasing stages of human intervertebral disk degeneration."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Exp Mol Pathol (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yexmp.2011.06.001"}], "href": "https://doi.org/10.1016/j.yexmp.2011.06.001"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21689646"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21689646"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Bon-Hun Koo, Tiina Hurskainen, Katrina Mielke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "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."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Int J Cancer (2007)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ijc.22882"}], "href": "https://doi.org/10.1002/ijc.22882"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17597111"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17597111"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Gerhard Sengle, Ko Tsutsui, Douglas R Keene, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Microenvironmental regulation by fibrillin-1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1002425"}], "href": "https://doi.org/10.1371/journal.pgen.1002425"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22242013"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22242013"}]}]}]}
Synonyms	ADAMTSL-3
Proteins	ATL3_HUMAN
NCBI Gene ID	57188
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ADAMTSL3 has 4,768 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 115 datasets.

Click the + buttons to view associations for ADAMTSL3 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ADAMTSL3 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ADAMTSL3 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ADAMTSL3 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of ADAMTSL3 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ADAMTSL3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ADAMTSL3 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ADAMTSL3 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ADAMTSL3 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ADAMTSL3 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ADAMTSL3 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	Carcinogenome Chemical Perturbation Carcinogenicity Signatures	small molecule perturbations changing expression of ADAMTSL3 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ADAMTSL3 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ADAMTSL3 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with ADAMTSL3 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ADAMTSL3 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ADAMTSL3 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ADAMTSL3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ADAMTSL3 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of ADAMTSL3 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CM4AI U2OS Cell Map Protein Localization Assemblies	assemblies containing ADAMTSL3 protein from integrated AP-MS and IF data from the CM4AI U2OS Cell Map Protein Localization Assemblies dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ADAMTSL3 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ADAMTSL3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing ADAMTSL3 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ADAMTSL3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ADAMTSL3 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ADAMTSL3 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ADAMTSL3 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with ADAMTSL3 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with ADAMTSL3 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ADAMTSL3 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ADAMTSL3 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ADAMTSL3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ADAMTSL3 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ADAMTSL3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ADAMTSL3 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ADAMTSL3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ADAMTSL3 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ADAMTSL3 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ADAMTSL3 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ADAMTSL3 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ADAMTSL3 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.