| Symbol
| COL18A1
| contributors: SGE - updated : 18-01-2018
|
| HGNC name
| collagen, type XVIII, alpha 1
|
| HGNC id
| 2195
|
| corresponding disease(s)
|
KNO
|
| Other morbid association(s)
|
| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| constitutional
|
|
| --over
|
|
in primary Sjögren syndrome, particularly in those with interstitial lung disease (ILD)  | |
| Susceptibility
|
to age-related macular degeneration |
| Variant & Polymorphism
other
| polymorphism at position 1437 in prostate cancer (heterozygous Asn-1437 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous Asp-1437 individuals) |
|
allele N104 for the endostatin domain represent a modifier allele for disorder in which angiogenesis is important, such a cancer |
|
SNP in COL18A1 are associated with hepatopulmonary syndrome |
| 
|
| Candidate gene
| high expression is associated with poor prognosis in patients with metastatic carcinoma |
| Marker
| serum COL18A1 as a potential biomarker in |
|
Pulmonary arterial hypertension (PAH) with the capacity to predict poor outcomes |
|
|
Therapy target
|
|
| System | Type | Disorder | Pubmed |
|---|
| cancer | angiogenesis | | |
| construction of endostatin analogues with high ATPase activity may provide a new direction for the development of more potent antiangiogenic drugs | | neurosensorial | visual | | |
| therapeutic up-regulation may be a new strategy in the treatment of neovascular AMD (age-related macular degeneration) | | respiratory | lung | | |
| COL18A1/ES is a potential new therapeutic target in Pulmonary arterial hypertension (PAH) | | miscelleaneous | hypertension | | |
| coadministration of COL18A1 with VEGFA inhibitors may offer a unique strategy to prevent drug-related hypertension and enhance antiangiogenic tumor suppression |
| |
|
| Collagen XVIII deficiency leads to anterior and posterior eye defects in Col18a1(-/-) mice | |
Col18a1(-/-) mice showed effacement of the glomerular podocyte foot processes, and microindentation studies showed changes in the mechanical properties of the glomeruli |