Identity
HGNC
LOCATION
6q13
LOCUSID
ALIAS
BA209D8.1,BTHLM2,COL12A1L,DJ234P15.1,EDSMYP,UCMD2
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: 1303
MIM: 120320
HGNC: 2188
Ensembl: ENSG00000111799
Variants:
dbSNP: 1303
ClinVar: 1303
TCGA: ENSG00000111799
COSMIC: COL12A1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36694230 | 2023 | Epigenetic dysregulation-mediated COL12A1 upregulation predicts worse outcome in intrahepatic cholangiocarcinoma patients. | 7 |
| 37458870 | 2023 | Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2. | 1 |
| 37506150 | 2023 | PABPC1 promotes cell proliferation and metastasis in pancreatic adenocarcinoma by regulating COL12A1 expression. | 2 |
| 36694230 | 2023 | Epigenetic dysregulation-mediated COL12A1 upregulation predicts worse outcome in intrahepatic cholangiocarcinoma patients. | 7 |
| 37458870 | 2023 | Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2. | 1 |
| 37506150 | 2023 | PABPC1 promotes cell proliferation and metastasis in pancreatic adenocarcinoma by regulating COL12A1 expression. | 2 |
| 35933466 | 2022 | Temporal profiling of the breast tumour microenvironment reveals collagen XII as a driver of metastasis. | 46 |
| 35933466 | 2022 | Temporal profiling of the breast tumour microenvironment reveals collagen XII as a driver of metastasis. | 46 |
| 33096204 | 2021 | Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function. | 27 |
| 33129849 | 2021 | A novel mutation in the COL12A1 gene. | 4 |
| 34062975 | 2021 | COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction. | 6 |
| 34517516 | 2021 | Bioinformatics analysis identified MMP14 and COL12A1 as immune-related biomarkers associated with pancreatic adenocarcinoma prognosis. | 11 |
| 33096204 | 2021 | Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function. | 27 |
| 33129849 | 2021 | A novel mutation in the COL12A1 gene. | 4 |
| 34062975 | 2021 | COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction. | 6 |
Citation
Dessen P
COL12A1 (collagen type XII alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2012-11-01
Online version: http://atlasgeneticsoncology.org/gene/52983/col12a1-(collagen-type-xii-alpha-1-chain)
