Identity
HGNC
LOCATION
21q22.3
LOCUSID
ALIAS
GLCC,KNO,KNO1,KS
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: 80781
MIM: 120328
HGNC: 2195
Ensembl: ENSG00000182871
Variants:
dbSNP: 80781
ClinVar: 80781
TCGA: ENSG00000182871
COSMIC: COL18A1
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36623578 | 2023 | Temporally and spatially regulated collagen XVIII isoforms are involved in ureteric tree development via the TSP1-like domain. | 3 |
| 36623578 | 2023 | Temporally and spatially regulated collagen XVIII isoforms are involved in ureteric tree development via the TSP1-like domain. | 3 |
| 33238767 | 2021 | Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children. | 2 |
| 33296124 | 2021 | Collagen type XVIII alpha 1 chain (COL18A1) variants affect the risk of anti-tuberculosis drug-induced hepatotoxicity: A prospective study. | 1 |
| 33341801 | 2021 | Elevated Endostatin Expression Is Regulated by the pIgA Immune Complex and Associated with Disease Severity of IgA Nephropathy. | 3 |
| 34680907 | 2021 | Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population. | 3 |
| 33238767 | 2021 | Variable phenotype of Knobloch syndrome due to biallelic COL18A1 mutations in children. | 2 |
| 33296124 | 2021 | Collagen type XVIII alpha 1 chain (COL18A1) variants affect the risk of anti-tuberculosis drug-induced hepatotoxicity: A prospective study. | 1 |
| 33341801 | 2021 | Elevated Endostatin Expression Is Regulated by the pIgA Immune Complex and Associated with Disease Severity of IgA Nephropathy. | 3 |
| 34680907 | 2021 | Knobloch Syndrome Associated with Novel COL18A1 Variants in Chinese Population. | 3 |
| 31922883 | 2020 | Functional Impact of Human Genetic Variants of COL18A1/Endostatin on Pulmonary Endothelium. | 16 |
| 32158205 | 2020 | Serum Endostatin Is a Novel Marker for COPD Associated with Lower Lung Function, Exacerbation and Systemic Inflammation. | 8 |
| 32178553 | 2020 | Three cases of molecularly confirmed Knobloch syndrome. | 5 |
| 32700429 | 2020 | Knobloch syndrome in a patient from Chile. | 1 |
| 31922883 | 2020 | Functional Impact of Human Genetic Variants of COL18A1/Endostatin on Pulmonary Endothelium. | 16 |
Citation
Dessen P
COL18A1 (collagen type XVIII alpha 1 chain)
Atlas Genet Cytogenet Oncol Haematol. 2003-02-01
Online version: http://atlasgeneticsoncology.org/gene/40123/col18a1
