MATN1 Gene

Name	matrilin 1, cartilage matrix protein
Description	This gene encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMATN1 encodes matrilin‐1, a cartilage-specific extracellular matrix protein that plays a key role in the organization and integrity of cartilage. Multiple genetic studies have examined its involvement in adolescent idiopathic scoliosis (AIS). For example, one investigation identified a promoter polymorphism (rs1149048) associated with increased AIS susceptibility and curve progression, while another study using gene-based association and linkage analyses supported MATN1 as a candidate gene for AIS. However, significant associations were not consistently replicated across populations, with some studies in Japanese and Turkish cohorts reporting no correlation, and meta‐analyses indicating that associations may be ethnicity-specific. These findings, complemented by investigations of circulating matrilin‐1 levels and the influence of MATN1 polymorphisms on bracing effectiveness, underscore the complex genetic contributions of MATN1 to AIS development and progression."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its role in spinal deformities, MATN1 has been implicated in craniofacial skeletal development. Studies investigating mandibular malocclusions have identified sequence variants in MATN1 that influence the risk of conditions such as mandibular prognathism and retrognathism. Certain alleles appear to predispose to an abnormal anterior or posterior positioning of the mandible, while other variants may confer a protective effect, suggesting that MATN1’s genetic variation contributes to the regulation of mandibular growth and morphology."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "10"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nAt the molecular level, the matrilin‐1 protein is a critical organizer of the extracellular matrix (ECM) in cartilage. It participates in forming hetero-oligomers with other matrilins, interacting with type II and IX collagens, and even associating with proteoglycans such as biglycan. These interactions reinforce the cartilage ECM and coordinate its macromolecular structure. In addition, purified matrilin‐1 exhibits novel antiangiogenic properties by inhibiting endothelial cell proliferation and migration, which may contribute to tissue repair processes such as fracture healing."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "12"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMoreover, evolving research has explored the broader implications of MATN1 in musculoskeletal disorders. Investigations into osteoarthritis have compared MATN1 genotype frequencies between patients and controls, while studies in skeletal dysplasias have identified MATN1 as a potential modifier gene within a network of mutations affecting bone and connective tissue integrity. These findings highlight that MATN1’s role extends beyond cartilage formation to influence overall skeletal homeostasis."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "14"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Zhijun Chen, Nelson L S Tang, Xingbin Cao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Promoter polymorphism of matrilin-1 gene predisposes to adolescent idiopathic scoliosis in a Chinese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2008.203"}], "href": "https://doi.org/10.1038/ejhg.2008.203"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "18985072"}], "href": "https://pubmed.ncbi.nlm.nih.gov/18985072"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Lucio Montanaro, Patrizio Parisini, Tiziana Greggi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Evidence of a linkage between matrilin-1 gene (MATN1) and idiopathic scoliosis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Scoliosis (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/1748-7161-1-21"}], "href": "https://doi.org/10.1186/1748-7161-1-21"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "17176459"}], "href": "https://pubmed.ncbi.nlm.nih.gov/17176459"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Yohei Takahashi, Morio Matsumoto, Tatsuki Karasugi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Lack of association between adolescent idiopathic scoliosis and previously reported single nucleotide polymorphisms in MATN1, MTNR1B, TPH1, and IGF1 in a Japanese population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Orthop Res (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jor.21347"}], "href": "https://doi.org/10.1002/jor.21347"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21308753"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21308753"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Hurriyet Yilmaz, Coskun Zateri, Ahmet Uludag, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Single-nucleotide polymorphism in Turkish patients with adolescent idiopathic scoliosis: curve progression is not related with MATN-1, LCT C/T-13910, and VDR BsmI."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Orthop Res (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/jor.22075"}], "href": "https://doi.org/10.1002/jor.22075"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22278929"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22278929"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Jae Woong Bae, Chang-Hyun Cho, Woo-Kie Min, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Associations between matrilin-1 gene polymorphisms and adolescent idiopathic scoliosis curve patterns in a Korean population."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Rep (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11033-011-1360-7"}], "href": "https://doi.org/10.1007/s11033-011-1360-7"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22193623"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22193623"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Hongqi Zhang, Shushan Zhao, Zijin Zhao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "The association of rs1149048 polymorphism in matrilin-1(MATN1) gene with adolescent idiopathic scoliosis susceptibility: a meta-analysis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Mol Biol Rep (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s11033-014-3112-y"}], "href": "https://doi.org/10.1007/s11033-014-3112-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24469715"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24469715"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Zhi-jun Chen, Yong Qiu, Yang Yu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Association between polymorphism of Matrilin-1 gene (MATN1) with susceptibility to adolescent idiopathic scoliosis]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Wai Ke Za Zhi (2009)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20092731"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20092731"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Yang Yu, Zhi-jun Chen, Yong Qiu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Association between matrilin-1 gene polymorphism and bracing effectiveness in adolescent idiopathic scoliosis girls]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Wai Ke Za Zhi (2009)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20137728"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20137728"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Bin Wang, Zhi-Jun Chen, Yong Qiu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Decreased circulating matrilin-1 levels in adolescent idiopathic scoliosis]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Wai Ke Za Zhi (2009)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20137399"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20137399"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "J Y Jang, E K Park, H M Ryoo, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Polymorphisms in the Matrilin-1 gene and risk of mandibular prognathism in Koreans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Dent Res (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1177/0022034510375962"}], "href": "https://doi.org/10.1177/0022034510375962"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20739701"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20739701"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Pranita B Balkhande, Bhaskar V K S Lakkakula, Arun B Chitharanjan "}, {"type": "b", "children": [{"type": "t", "text": "Relationship between matrilin-1 gene polymorphisms and mandibular retrognathism."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Orthod Dentofacial Orthop (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ajodo.2017.06.023"}], "href": "https://doi.org/10.1016/j.ajodo.2017.06.023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29407503"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29407503"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Maryline Fresquet, Thomas A Jowitt, Louise A Stephen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Structural and functional investigations of Matrilin-1 A-domains reveal insights into their role in cartilage ECM assembly."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M110.154443"}], "href": "https://doi.org/10.1074/jbc.M110.154443"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20729554"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20729554"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Matthew J Foradori, Qian Chen, Cecilia A Fernandez, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Matrilin-1 is an inhibitor of neovascularization."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M113.529982"}], "href": "https://doi.org/10.1074/jbc.M113.529982"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24692560"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24692560"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "I Strusberg, A Sembaj, S Tabares, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association analysis of genotypic frequencies of matrilin-1 gene in patients with osteoarthritis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Clin Exp Rheumatol (2002)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12175111"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12175111"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Emile R Chimusa, Peter Beighton, Judit Kumuthini, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddy373"}], "href": "https://doi.org/10.1093/hmg/ddy373"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "30358852"}], "href": "https://pubmed.ncbi.nlm.nih.gov/30358852"}]}]}]}
Synonyms	CRTM, CMP
Proteins	MATN1_HUMAN
NCBI Gene ID	4146
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

MATN1 has 4,345 functional associations with biological entities spanning 8 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) extracted from 105 datasets.

Click the + buttons to view associations for MATN1 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

MATN1 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 MATN1 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 MATN1 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 MATN1 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 MATN1 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 MATN1 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 MATN1 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 MATN1 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 MATN1 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 MATN1 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 MATN1 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of MATN1 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 MATN1 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of MATN1 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of MATN1 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 MATN1 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 MATN1 gene from the CM4AI KOLF21J CRISPRi Gene Perturbation Atlas dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of MATN1 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing MATN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing MATN1 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with MATN1 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 MATN1 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 MATN1 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with MATN1 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with MATN1 gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by MATN1 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with MATN1 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 MATN1 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 MATN1 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 MATN1 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with MATN1 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 MATN1 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 MATN1 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of MATN1 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 MATN1 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with MATN1 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GAD High Level Gene-Disease Associations	diseases associated with MATN1 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of MATN1 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with MATN1 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
	GeneSigDB Published Gene Signatures	PubMedIDs of publications reporting gene signatures containing MATN1 from the GeneSigDB Published Gene Signatures dataset.
	GEO Signatures of Differentially Expressed Genes for Diseases	disease perturbations changing expression of MATN1 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.