COL18A1 Chromosome 21
Collagen type XVIII alpha 1 chain
Upload your DNA to see your personal genotypes for variants in COL18A1.
What This Gene Does
This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix proteins that contain multiple triple-helix domains (collagenous domains) interrupted by non-collagenous domains. A long isoform of the protein has an N-terminal domain that is homologous to the extracellular part of frizzled receptors. Proteolytic processing at several endogenous cleavage sites in the C-terminal domain results in production of endostatin, a potent antiangiogenic protein that is able to inhibit angiogenesis and tumor growth. Mutations in this gene are associated with Knobloch syndrome. The main features of this syndrome involve retinal abnormalities, so type XVIII collagen may play an important role in retinal structure and in neural tube closure. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Multiplexin collagens"
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000182871
Associated Conditions (24)
COL18A1-related disorder
Progressive neurodegenerative disease
Hereditary glaucoma
primary closed-angle
Inborn genetic diseases
Knobloch syndrome
Lung cancer
Nonpapillary renal cell carcinoma
Knobloch syndrome 1
Gastric cancer
Papillary renal cell carcinoma type 1
Thyroid cancer
nonmedullary
1
Retinal dystrophy
Clear cell carcinoma of kidney
Melanoma
Cataract
High myopia
Nystagmus
+4 more conditions
Key Variants
RS1002126692
Conflicting classifications of pathogenicity
COL18A1-related disorder, COL18A1-related disorder
Health Risk
RS1057518766
Conflicting classifications of pathogenicity
Progressive neurodegenerative disease, Hereditary glaucoma, primary closed-angle
Health Risk
RS1085307837
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1085307935
Conflicting classifications of pathogenicity
Health Risk
RS11544970
Conflicting classifications of pathogenicity
Knobloch syndrome, Knobloch syndrome
Health Risk
RS1272002645
Conflicting classifications of pathogenicity
Knobloch syndrome, Knobloch syndrome
Health Risk
RS139122081
Conflicting classifications of pathogenicity
Knobloch syndrome, Knobloch syndrome
Health Risk
RS1392844393
Conflicting classifications of pathogenicity
Knobloch syndrome, Knobloch syndrome
Health Risk
RS1405984023
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS145912433
Conflicting classifications of pathogenicity
Knobloch syndrome, Knobloch syndrome
Health Risk
RS149772252
Conflicting classifications of pathogenicity
Knobloch syndrome, COL18A1-related disorder, Inborn genetic diseases
Health Risk
RS151228115
Conflicting classifications of pathogenicity
Lung cancer, Lung cancer
Health Risk
All Variants (258)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1167407832 | Health Risk | Likely pathogenic | — |
| RS1239178537 | Health Risk | Likely pathogenic | — |
| RS1349733632 | Health Risk | Likely pathogenic | — |
| RS1409030092 | Health Risk | Likely pathogenic | — |
| RS1555874538 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1602667345 | Health Risk | Likely pathogenic | Knobloch syndrome, Knobloch syndrome |
| RS2035758739 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS2035835799 | Health Risk | Likely pathogenic | — |
| RS2036225419 | Health Risk | Likely pathogenic | — |
| RS2036311953 | Health Risk | Likely pathogenic | Knobloch syndrome 1, Knobloch syndrome 1 |
| RS2037655865 | Health Risk | Likely pathogenic | — |
| RS2145891378 | Health Risk | Likely pathogenic | — |
| RS2145934671 | Health Risk | Likely pathogenic | Knobloch syndrome, Knobloch syndrome |
| RS2145991515 | Health Risk | Likely pathogenic | — |
| RS2146073581 | Health Risk | Likely pathogenic | — |
| RS2146088508 | Health Risk | Likely pathogenic | — |
| RS2517557197 | Health Risk | Likely pathogenic | — |
| RS2517676428 | Health Risk | Likely pathogenic | — |
| RS2517683028 | Health Risk | Likely pathogenic | — |
| RS2517690574 | Health Risk | Likely pathogenic | — |
| RS2517775597 | Health Risk | Likely pathogenic | — |
| RS2517781660 | Health Risk | Likely pathogenic | — |
| RS2517795259 | Health Risk | Likely pathogenic | Knobloch syndrome 1, Knobloch syndrome 1 |
| RS2517825283 | Health Risk | Likely pathogenic | — |
| RS2517826809 | Health Risk | Likely pathogenic | — |
| RS750070668 | Health Risk | Likely pathogenic | — |
| RS753935209 | Health Risk | Likely pathogenic | Knobloch syndrome, Knobloch syndrome |
| RS753984170 | Health Risk | Likely pathogenic | Hereditary glaucoma, primary closed-angle, Knobloch syndrome 1 |
| RS757523045 | Health Risk | Likely pathogenic | Knobloch syndrome, Knobloch syndrome |
| RS770631950 | Health Risk | Likely pathogenic | Knobloch syndrome, Knobloch syndrome 1, Knobloch syndrome |
| RS776147216 | Health Risk | Likely pathogenic | Clear cell carcinoma of kidney, Clear cell carcinoma of kidney |
| RS778612831 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS887282132 | Health Risk | Likely pathogenic | — |
| RS894151180 | Health Risk | Likely pathogenic | Nonpapillary renal cell carcinoma, Melanoma, Nonpapillary renal cell carcinoma |
| RS900062138 | Health Risk | Likely pathogenic | — |
| RS907713687 | Health Risk | Likely pathogenic | — |
| RS960350711 | Health Risk | Likely pathogenic | — |
| RS1057518802 | Health Risk | Pathogenic | Cataract, High myopia, Nystagmus |
| RS113847452 | Health Risk | Pathogenic | Knobloch syndrome, Knobloch syndrome |
| RS1160505542 | Health Risk | Pathogenic | — |
| RS1160950245 | Health Risk | Pathogenic | — |
| RS1176071759 | Health Risk | Pathogenic | — |
| RS1203288518 | Health Risk | Pathogenic | — |
| RS1220214438 | Health Risk | Pathogenic | — |
| RS1230407213 | Health Risk | Pathogenic | — |
| RS1241419372 | Health Risk | Pathogenic | — |
| RS1268694070 | Health Risk | Pathogenic | — |
| RS1280809356 | Health Risk | Pathogenic | — |
| RS1285121531 | Health Risk | Pathogenic | — |
| RS1323772321 | Health Risk | Pathogenic | — |