COL11A2 Gene

HGNC Family	Collagens (COL)
Name	collagen, type XI, alpha 2
Description	This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. It is located on chromosome 6 very close to but separate from the gene for retinoid X receptor beta. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Proteolytic processing of this type XI chain produces PARP, a proline/arginine-rich protein that is an amino terminal domain. Mutations in this gene are associated with type III Stickler syndrome, otospondylomegaepiphyseal dysplasia (OSMED syndrome), Weissenbacher-Zweymuller syndrome, autosomal dominant non-syndromic sensorineural type 13 deafness (DFNA13), and autosomal recessive non-syndromic sensorineural type 53 deafness (DFNB53). Alternative splicing results in multiple transcript variants. A related pseudogene is located nearby on chromosome 6. [provided by RefSeq, Jul 2009]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\n COL11A2 encodes the α2‐chain of type XI collagen, a minor fibrillar collagen that plays a critical role in the organization and structural integrity of cartilage extracellular matrix and in the regulation of collagen fibril diameter during skeletogenesis."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": " In cartilage and osteoblasts, proper COL11A2 expression is tightly regulated by key transcriptional factors—such as SOX9 and members of the Sp1 family—to ensure appropriate chondrocyte differentiation and extracellular matrix assembly."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "4"}]}, {"type": "t", "text": " Mutations or polymorphisms in COL11A2 have been linked to several disorders: in Stickler syndrome, aberrant structural properties of collagen XI contribute to a spectrum of ophthalmic, skeletal, and auditory anomalies"}, {"type": "fg", "children": [{"type": "fg_f", "ref": "2"}]}, {"type": "t", "text": "; in other instances, specific mutations (for example, those affecting critical glycine residues within the triple-helical domain) underlie cases of nonsyndromic sensorineural hearing loss."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": " Furthermore, allelic variations in COL11A2 have been associated with an increased risk of degenerative changes in intervertebral discs and ligament ossification, suggesting that even subtle perturbations in collagen XI composition can affect tissue biomechanics and predispose to conditions such as disc bulges and ossification of the posterior longitudinal ligament."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "7"}]}, {"type": "t", "text": " Collectively, these findings underscore the pivotal function of COL11A2 in cartilage homeostasis and skeletal development, with its disruption leading to a broad range of connective tissue and hearing disorders.\n "}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Elisabeth Sock, Roberta A Pagon, Kathelijn Keymolen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddg158"}], "href": "https://doi.org/10.1093/hmg/ddg158"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12783851"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12783851"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Guy Van Camp, Rikkert L Snoeckx, Nele Hilgert, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A new autosomal recessive form of Stickler syndrome is caused by a mutation in the COL9A1 gene."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Hum Genet (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1086/506478"}], "href": "https://doi.org/10.1086/506478"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16909383"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16909383"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Allan J Richards, Annie McNinch, Howard Martin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mutat (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/humu.21257"}], "href": "https://doi.org/10.1002/humu.21257"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20513134"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20513134"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Tomohiro Goto, Yoshito Matsui, Russell J Fernandes, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Sp1 family of transcription factors regulates the human alpha2 (XI) collagen gene (COL11A2) in Saos-2 osteoblastic cells."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Bone Miner Res (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1359/jbmr.020605"}], "href": "https://doi.org/10.1359/jbmr.020605"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16734381"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16734381"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Svetlana Solovieva, Jaana Lohiniva, Päivi Leino-Arjas, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Intervertebral disc degeneration in relation to the COL9A3 and the IL-1ss gene polymorphisms."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur Spine J (2006)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s00586-005-0988-1"}], "href": "https://doi.org/10.1007/s00586-005-0988-1"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16133074"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16133074"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "W Chen, K Kahrizi, N C Meyer, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation of COL11A2 causes autosomal recessive non-syndromic hearing loss at the DFNB53 locus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Med Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1136/jmg.2005.032615"}], "href": "https://doi.org/10.1136/jmg.2005.032615"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "16033917"}], "href": "https://pubmed.ncbi.nlm.nih.gov/16033917"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "S Maeda, Y Ishidou, H Koga, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Functional impact of human collagen alpha2(XI) gene polymorphism in pathogenesis of ossification of the posterior longitudinal ligament of the spine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Bone Miner Res (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1359/jbmr.2001.16.5.948"}], "href": "https://doi.org/10.1359/jbmr.2001.16.5.948"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11341341"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11341341"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "S Maeda, H Koga, S Matsunaga, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gender-specific haplotype association of collagen alpha2 (XI) gene in ossification of the posterior longitudinal ligament of the spine."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Hum Genet (2001)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1007/s100380170117"}], "href": "https://doi.org/10.1007/s100380170117"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "11289713"}], "href": "https://pubmed.ncbi.nlm.nih.gov/11289713"}]}]}]}
Synonyms	STL3, HKE5, OSMEDB, FBCG2, OSMEDA, DFNA13, DFNB53
Proteins	COBA2_HUMAN
NCBI Gene ID	1302
API
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Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

COL11A2 has 6,225 functional associations with biological entities spanning 9 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 124 datasets.

Click the + buttons to view associations for COL11A2 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

COL11A2 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 COL11A2 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 COL11A2 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 COL11A2 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 COL11A2 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 COL11A2 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 COL11A2 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 COL11A2 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 COL11A2 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 COL11A2 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 COL11A2 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of COL11A2 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 COL11A2 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with COL11A2 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 COL11A2 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of COL11A2 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 COL11A2 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with COL11A2 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with COL11A2 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CM4AI KOLF21J CRISPRi Gene Perturbation Atlas	gene perturbations changing expression of COL11A2 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 COL11A2 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing COL11A2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing COL11A2 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with COL11A2 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 COL11A2 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with COL11A2 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with COL11A2 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with COL11A2 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with COL11A2 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 COL11A2 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DGIdb Drug Targets 2026	interacting drugs for COL11A2 protein from the DGIdb Drug Targets 2026 dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving COL11A2 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving COL11A2 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with COL11A2 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 COL11A2 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 COL11A2 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 COL11A2 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 COL11A2 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with COL11A2 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 COL11A2 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 COL11A2 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.