Property Summary

NCBI Gene PubMed Count 33
PubMed Score 82.59
PubTator Score 97.93

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (14)

Disease log2 FC p
posterior fossa group A ependymoma 3.100 6.0e-10
glioblastoma 1.800 3.6e-03
intraductal papillary-mucinous carcinoma... -1.100 1.8e-03
intraductal papillary-mucinous neoplasm ... -1.100 1.0e-02
lung cancer -1.100 3.3e-02
pancreatic cancer 1.300 1.9e-03
breast carcinoma 1.100 1.7e-02
pediatric high grade glioma 1.500 3.6e-03
pilocytic astrocytoma 2.200 4.6e-06
Breast cancer 1.200 2.8e-02
invasive ductal carcinoma 2.045 3.4e-04
gastric carcinoma 1.500 2.3e-02
ovarian cancer 3.500 8.0e-05
pituitary cancer -1.200 4.0e-05

 GWAS Trait (1)

Gene RIF (21)

PMID Text
25007886 No mutations were identified in COL8A2, in neither the late-onset cohort nor the early-onset family, suggesting genetic heterogeneity in this Late-onset Fuchs endothelial corneal dystrophy (FECD) family.
24348007 Variation in the COL8A2, SLC4A11, and ZEB1 genes is present in only a small fraction of African American cases and as such does not appear to significantly contribute to the genetic risk of Fuchs endothelial corneal dystrophy.
23608731 Esophageal transcript profiling identified a distinct subset of genes, including COL8A2, in patients with Eosionophilic esophagitis and inherited connective tissue disorders.
23601356 mutations in the COL8A2 gene do not contribute to all cases of early-onset early-onset Fuchs' endothelial corneal dystrophy .
23110055 Association of central corneal thickness with TCF4 was also significant (p = 6.1x10(-7)), but was abolished with adjustment for FECD grade (p = 0.92).
22814818 Single nucleotide polymorphisms in COL8A2 gene is not associated with central corneal thickness in glaucoma.
22020132 Report cellular model in which collagen VIII mutations, which clinically result in Fuchs' dystrophy, are associated with abnormal cellular accumulation of collagen VIII.
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.
20144242 COL8A2, SLC4A11 genes may not be responsible for Fuchs endothelial corneal dystrophy in patients examined in this study.
20144242 Observational study of gene-disease association. (HuGE Navigator)
18502986 The previously reported mutations in the COL8A2 gene were not found in the 92 samples tested.
18464802 These data constitute the first report of a heterozygous Q455V mutation of the COL8A2 gene in Korean patients with Fuchs' corneal dystrophy and Q455V may be the causative defect in the development and progression of Korean FECD patients.
18024822 description of the phenotype of early-onset Fuchs' endothelial corneal dystrophy in a British family, which is caused by a point mutation (resulting in p.L450W substitution) in COL8A2
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.
17471329 Microscopic and electron microscopic examination revealed pathological changes in Descemet's membrane of L450W COL8A2 mutants that were consistent with several-fold increased growth of the extracellular matrix.
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.
16908762 Alpha2(VIII) collagen supported endothelial cell attachment in a dose-dependent manner, with an 18-fold higher affinity for endothelial cells.
15914606 A novel pathogenic L450W COL8A2 mutation was identified and its highly distinctive pathology characterized. This indicates that COL8A2 mutations give rise to a rare subtype of FCD (Fuchs corneal dystrophy).
15851557 No pathogenic mutations were identified in the COL8A2 gene or in several positional candidate genes in a series of patients, indicating that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy.
15175909 The R155Q and T502M mutations of COL8A2 may not be the causative defect in the Japanese Fuchs' endothelial corneal dystrophy and posterior polymorphous dystrophy patients examined in this study.

AA Sequence

MLGTLTPLSSLLLLLLVLVLGCGPRASSGGGAGGAAGYAPVKYIQPMQKGPVGPPFREGKGQYLEMPLPL      1 - 70
LPMDLKGEPGPPGKPGPRGPPGPPGFPGKPGMGKPGLHGQPGPAGPPGFSRMGKAGPPGLPGKVGPPGQP     71 - 140
GLRGEPGIRGDQGLRGPPGPPGLPGPSGITIPGKPGAQGVPGPPGFQGEPGPQGEPGPPGDRGLKGDNGV    141 - 210
GQPGLPGAPGQGGAPGPPGLPGPAGLGKPGLDGLPGAPGDKGESGPPGVPGPRGEPGAVGPKGPPGVDGV    211 - 280
GVPGAAGLPGPQGPSGAKGEPGTRGPPGLIGPTGYGMPGLPGPKGDRGPAGVPGLLGDRGEPGEDGEPGE    281 - 350
QGPQGLGGPPGLPGSAGLPGRRGPPGPKGEAGPGGPPGVPGIRGDQGPSGLAGKPGVPGERGLPGAHGPP    351 - 420
GPTGPKGEPGFTGRPGGPGVAGALGQKGDLGLPGQPGLRGPSGIPGLQGPAGPIGPQGLPGLKGEPGLPG    421 - 490
PPGEGRAGEPGTAGPTGPPGVPGSPGITGPPGPPGPPGPPGAPGAFDETGIAGLHLPNGGVEGAVLGKGG    491 - 560
KPQFGLGELSAHATPAFTAVLTSPFPASGMPVKFDRTLYNGHSGYNPATGIFTCPVGGVYYFAYHVHVKG    561 - 630
TNVWVALYKNNVPATYTYDEYKKGYLDQASGGAVLQLRPNDQVWVQMPSDQANGLYSTEYIHSSFSGFLL    631 - 700
CPT                                                                       701 - 703
//

Text Mined References (36)

PMID Year Title
25007886 2014 Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.
24348007 2013 Genetic screen of African Americans with Fuchs endothelial corneal dystrophy.
23608731 2013 High prevalence of eosinophilic esophagitis in patients with inherited connective tissue disorders.
23601356 2014 Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.
23291589 2013 Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
23110055 2012 Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy.
22814818 2012 Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness.
22020132 2011 A cellular model for the investigation of Fuchs' endothelial corneal dystrophy.
21139683 2010 Distribution of COL8A2 and COL8A1 gene variants in Caucasian primary open angle glaucoma patients with thin central corneal thickness.
20551380 2010 Proteomics characterization of extracellular space components in the human aorta.
20144242 2010 Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India.
18502986 2009 Genome-wide linkage scan in fuchs endothelial corneal dystrophy.
18464802 2009 Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.
18024822 2007 British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.
17888087 2007 Collagen type VIII expression in human diabetic nephropathy.
17721297 2007 Keratoconus is not associated with mutations in COL8A1 and COL8A2.
17471329 2006 Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation.
16936088 2006 No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy.
16908762 2006 Alpha2(VIII) collagen substrata enhance endothelial cell retention under acute shear stress flow via an alpha2beta1 integrin-dependent mechanism: an in vitro and in vivo study.
16710414 2006 The DNA sequence and biological annotation of human chromosome 1.
16303941 2005 Fuchs corneal dystrophy: aberrant collagen distribution in an L450W mutant of the COL8A2 gene.
15914606 2005 Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.
15851557 2005 No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy.
15175909 Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy.
15015022 2004 Neither collagen 8A1 nor 8A2 mutations play a major role in cervical artery dissection. A mutation analysis and linkage study.
14990571 2004 Expression and supramolecular assembly of recombinant alpha1(viii) and alpha2(viii) collagen homotrimers.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12782141 2003 Crystal structure of the collagen alpha1(VIII) NC1 trimer.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11689488 2001 Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.
10686422 2000 The alpha1(VIII) and alpha2(VIII) collagen chains form two distinct homotrimeric proteins in vivo.
9705353 1998 The alpha1(VIII) and alpha2(VIII) chains of type VIII collagen can form stable homotrimeric molecules.
9438378 1997 Type VIII collagen.
2029894 1991 The complete primary structure of the human alpha 1 (VIII) chain and assignment of its gene (COL8A1) to chromosome 3.
2019595 1991 The alpha 2(VIII) collagen gene. A novel member of the short chain collagen family located on the human chromosome 1.
1515454 1992 Cleavage of type VIII collagen by human neutrophil elastase.