Identity
HGNC
LOCATION
2q37.3
LOCUSID
ALIAS
BTHLM1,DYT27,UCMD1
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 1293
MIM: 120250
HGNC: 2213
Ensembl: ENSG00000163359
Variants:
dbSNP: 1293
ClinVar: 1293
TCGA: ENSG00000163359
COSMIC: COL6A3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36980840 | 2023 | Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies. | 1 |
| 36982625 | 2023 | Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. | 1 |
| 37938972 | 2023 | Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence. | 2 |
| 36980840 | 2023 | Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies. | 1 |
| 36982625 | 2023 | Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. | 1 |
| 37938972 | 2023 | Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence. | 2 |
| 33749658 | 2021 | Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies. | 6 |
| 33964895 | 2021 | Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease. | 4 |
| 33749658 | 2021 | Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies. | 6 |
| 33964895 | 2021 | Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease. | 4 |
| 32037012 | 2020 | COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature. | 8 |
| 32245981 | 2020 | A Fragment of Collagen Type VI alpha-3 chain is Elevated in Serum from Patients with Gastrointestinal Disorders. | 9 |
| 32389683 | 2020 | Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy. | 4 |
| 32448721 | 2020 | Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity. | 1 |
| 32640306 | 2020 | Single cell sequencing revealed the underlying pathogenesis of the development of osteoarthritis. | 16 |
Citation
Dessen P
COL6A3 (collagen type VI alpha 3 chain)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/50019
