Property Summary

NCBI Gene PubMed Count 35
PubMed Score 16.32
PubTator Score 16.26

Knowledge Summary

Patent

No data available

TINX Plot

Expression

  Differential Expression (26)

Disease log2 FC p
urothelial carcinoma 2.400 3.6e-02
malignant mesothelioma -1.300 7.6e-06
glioblastoma multiforme 2.400 6.3e-11
posterior fossa group B ependymoma 2.300 3.4e-05
cystic fibrosis -2.086 2.0e-05
autosomal dominant Emery-Dreifuss muscul... 1.013 1.9e-03
adrenocortical carcinoma -1.598 1.2e-02
primary pancreatic ductal adenocarcinoma 4.091 1.8e-04
intraductal papillary-mucinous adenoma (... -2.800 2.0e-02
Hydrolethalus syndrome 1.813 3.2e-02
lung cancer -1.400 2.6e-04
pancreatic cancer 4.100 1.3e-03
breast carcinoma 1.600 8.5e-11
Breast cancer 4.500 2.2e-02
pediatric high grade glioma 2.300 4.0e-03
pilocytic astrocytoma 3.700 9.1e-09
subependymal giant cell astrocytoma 3.441 4.6e-02
invasive ductal carcinoma 4.852 1.2e-06
nasopharyngeal carcinoma 1.800 8.0e-04
psoriasis -1.700 3.4e-08
lung carcinoma -2.400 8.8e-25
gastric carcinoma 4.600 5.5e-03
ulcerative colitis 1.500 2.5e-02
ovarian cancer -5.000 2.0e-07
Gaucher disease type 3 -1.500 4.6e-02
pituitary cancer -1.900 2.9e-03

 MGI Phenotype (1)

Gene RIF (11)

PMID Text
26110394 High COL8A1 expression is associated with early loss of kidney function.
24498017 Data indicate that complement factor H (CFH) R1210C and common variants in COL8A1 and RAD51B plus six genes contribute predictive information for advanced macular degeneration (AMD) beyond macular and behavioral phenotypes.
23533600 The results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions.
23512105 In addition, eight genes classified as 'second tier' hits in the original study (PAX7, THADA, COL8A1/FILIP1L, DCAF4L2, GADD45G, NTN1, RBFOX3 and FOXE1) showed evidence of linkage and association in this replication sample.
21139683 The purpose of this study is to evaluate COL8A1 and COL8A2 as candidate genes for thin central corneal thickness in human primary open angle glaucoma patients.
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
17721297 Observational study of genotype prevalence. (HuGE Navigator)
17721297 The absence of pathogenic mutations in COL8A1 and COL8A2 in patients with keratoconus indicates that other genetic factors are involved in the pathogenesis of this corneal ectatic disorder.
16936088 The absence of pathogenic mutations identified in the COL8A1 or COL8A2 genes in affected members of 15 pedigrees with familial FECD (Fuchs endothelial corneal dystrophy) indicates that other genetic factors are involved.

AA Sequence

MAVLPGPLQLLGVLLTISLSSIRLIQAGAYYGIKPLPPQIPPQMPPQIPQYQPLGQQVPHMPLAKDGLAM      1 - 70
GKEMPHLQYGKEYPHLPQYMKEIQPAPRMGKEAVPKKGKEIPLASLRGEQGPRGEPGPRGPPGPPGLPGH     71 - 140
GIPGIKGKPGPQGYPGVGKPGMPGMPGKPGAMGMPGAKGEIGQKGEIGPMGIPGPQGPPGPHGLPGIGKP    141 - 210
GGPGLPGQPGPKGDRGPKGLPGPQGLRGPKGDKGFGMPGAPGVKGPPGMHGPPGPVGLPGVGKPGVTGFP    211 - 280
GPQGPLGKPGAPGEPGPQGPIGVPGVQGPPGIPGIGKPGQDGIPGQPGFPGGKGEQGLPGLPGPPGLPGI    281 - 350
GKPGFPGPKGDRGMGGVPGALGPRGEKGPIGAPGIGGPPGEPGLPGIPGPMGPPGAIGFPGPKGEGGIVG    351 - 420
PQGPPGPKGEPGLQGFPGKPGFLGEVGPPGMRGLPGPIGPKGEAGQKGVPGLPGVPGLLGPKGEPGIPGD    421 - 490
QGLQGPPGIPGIGGPSGPIGPPGIPGPKGEPGLPGPPGFPGIGKPGVAGLHGPPGKPGALGPQGQPGLPG    491 - 560
PPGPPGPPGPPAVMPPTPPPQGEYLPDMGLGIDGVKPPHAYGAKKGKNGGPAYEMPAFTAELTAPFPPVG    561 - 630
APVKFNKLLYNGRQNYNPQTGIFTCEVPGVYYFAYHVHCKGGNVWVALFKNNEPVMYTYDEYKKGFLDQA    631 - 700
SGSAVLLLRPGDRVFLQMPSEQAAGLYAGQYVHSSFSGYLLYPM                              701 - 744
//

Text Mined References (42)

PMID Year Title
26110394 2015 Biomarkers for Refractory Lupus Nephritis: A Microarray Study of Kidney Tissue.
25416956 2014 A proteome-scale map of the human interactome network.
25335168 2014 Common variants at 1p36 are associated with superior frontal gyrus volume.
25241763 2014 Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
24498017 2014 Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.
24144296 2013 Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.
23979707 2013 SILAC-based proteomics of human primary endothelial cell morphogenesis unveils tumor angiogenic markers.
23533600 2013 CNV analysis in Tourette syndrome implicates large genomic rearrangements in COL8A1 and NRXN1.
23512105 2013 Confirming genes influencing risk to cleft lip with/without cleft palate in a case-parent trio study.
23455636 2013 Seven new loci associated with age-related macular degeneration.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23154389 2013 Regulation of endodermal differentiation of human embryonic stem cells through integrin-ECM interactions.
21139683 2010 Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20551380 2010 Proteomics characterization of extracellular space components in the human aorta.
20385826 2010 Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
17888087 2007 Collagen type VIII expression in human diabetic nephropathy.
17721297 2007 Keratoconus is not associated with mutations in COL8A1 and COL8A2.
16936088 2006 No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16189514 2005 Towards a proteome-scale map of the human protein-protein interaction network.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14990571 2004 Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers.
12782141 2003 Crystal structure of the collagen alpha1(VIII) NC1 trimer.
12482545 2003 Vascular collagens: spotlight on the role of type VIII collagen in atherogenesis.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12107410 2002 Expressed sequence tag analysis of human RPE/choroid for the NEIBank Project: over 6000 non-redundant transcripts, novel genes and splice variants.
11708810 2001 NC1 domain of human type VIII collagen (alpha 1) inhibits bovine aortic endothelial cell proliferation and causes cell apoptosis.
11689488 2001 Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
10823842 2000 Differential display identification of 40 genes with altered expression in activated human smooth muscle cells. Local expression in atherosclerotic lesions of smags, smooth muscle activation-specific genes.
10731515 2000 Extracellular matrix components in retrocorneal fibrous membrane in comparison to corneal endothelium and Descemet's membrane.
10686422 2000 The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo.
10666376 2000 Type VIII collagen stimulates smooth muscle cell migration and matrix metalloproteinase synthesis after arterial injury.
9705353 1998 The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can form stable homotrimeric molecules.
9438378 1997 Type VIII collagen.
7734329 1994 Human mast cells produce type VIII collagen in vivo.
2376131 1990 Distribution of type VIII collagen in tissues: an immunohistochemical study.
2029894 1991 The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3.
1515454 1992 Cleavage of type VIII collagen by human neutrophil elastase.