Identity
HGNC
LOCATION
10q25.1
LOCUSID
ALIAS
BA16H23.2,BP180,BPA-2,BPAG2,ERED,LAD-1
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: 1308
MIM: 113811
HGNC: 2194
Ensembl: ENSG00000065618
Variants:
dbSNP: 1308
ClinVar: 1308
TCGA: ENSG00000065618
COSMIC: COL17A1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37289141 | 2024 | Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry. | 1 |
| 37979963 | 2024 | Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. | 1 |
| 37289141 | 2024 | Epithelial recurrent erosion dystrophy (ERED) from the splice site altering COL17A1 variant c.3156C>T in families of Finnish-Swedish ancestry. | 1 |
| 37979963 | 2024 | Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta. | 1 |
| 36412277 | 2023 | What's new in the pathogeneses and triggering factors of bullous pemphigoid. | 5 |
| 37803411 | 2023 | Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer. | 0 |
| 36412277 | 2023 | What's new in the pathogeneses and triggering factors of bullous pemphigoid. | 5 |
| 37803411 | 2023 | Levels of type XVII collagen (BP180) ectodomain are elevated in circulation from patients with multiple cancer types and is prognostic for patients with metastatic colorectal cancer. | 0 |
| 34673051 | 2022 | Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa. | 2 |
| 35490295 | 2022 | Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa. | 9 |
| 35722628 | 2022 | Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer. | 3 |
| 34673051 | 2022 | Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa. | 2 |
| 35490295 | 2022 | Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa. | 9 |
| 35722628 | 2022 | Integrated Analysis of ECT2 and COL17A1 as Potential Biomarkers for Pancreatic Cancer. | 3 |
| 33393081 | 2021 | Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations. | 0 |
Citation
Dessen P
COL17A1 (collagen type XVII alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2007-02-01
Online version: http://atlasgeneticsoncology.org/gene/46288/col17a1
