Identity
HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
BTHLM1,PP3610,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: 1292
MIM: 120240
HGNC: 2212
Ensembl: ENSG00000142173
Variants:
dbSNP: 1292
ClinVar: 1292
TCGA: ENSG00000142173
COSMIC: COL6A2
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36521657 | 2023 | Role of COL6A2 in malignant progression and temozolomide resistance of glioma. | 1 |
| 36982625 | 2023 | Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. | 1 |
| 36521657 | 2023 | Role of COL6A2 in malignant progression and temozolomide resistance of glioma. | 1 |
| 36982625 | 2023 | Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. | 1 |
| 36292982 | 2022 | The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene. | 0 |
| 36292982 | 2022 | The Presentation of Two Unrelated Clinical Cases from the Republic of North Ossetia-Alania with the Same Previously Undescribed Variant in the COL6A2 Gene. | 0 |
| 33537799 | 2021 | Use of RNA‑sequencing to detect abnormal transcription of the collagen α‑2 (VI) chain gene that can lead to Bethlem myopathy. | 1 |
| 33982770 | 2021 | Collagen type VI‑α1 and 2 repress the proliferation, migration and invasion of bladder cancer cells. | 17 |
| 33537799 | 2021 | Use of RNA‑sequencing to detect abnormal transcription of the collagen α‑2 (VI) chain gene that can lead to Bethlem myopathy. | 1 |
| 33982770 | 2021 | Collagen type VI‑α1 and 2 repress the proliferation, migration and invasion of bladder cancer cells. | 17 |
| 32053901 | 2020 | Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. | 8 |
| 32350230 | 2020 | Proteomics Profiling Reveals Insulin-Like Growth Factor 1, Collagen Type VI α-2 Chain, and Fermitin Family Homolog 3 as Potential Biomarkers of Plaque Erosion in ST-Segment Elevated Myocardial Infarction. | 2 |
| 32053901 | 2020 | Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. | 8 |
| 32350230 | 2020 | Proteomics Profiling Reveals Insulin-Like Growth Factor 1, Collagen Type VI α-2 Chain, and Fermitin Family Homolog 3 as Potential Biomarkers of Plaque Erosion in ST-Segment Elevated Myocardial Infarction. | 2 |
| 27563703 | 2017 | Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy. | 2 |
Citation
Dessen P
COL6A2 (collagen type VI alpha 2 chain)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/61996
