Property Summary

NCBI Gene PubMed Count 33
PubMed Score 82.59
PubTator Score 97.93

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (5)

Disease Target Count P-value
posterior fossa group A ependymoma 1511 6.023991680544E-10
pilocytic astrocytoma 3086 4.60608312459539E-6
pituitary cancer 1972 3.97743897533471E-5
ovarian cancer 8492 8.00465275732913E-5
invasive ductal carcinoma 2950 3.4431588510196E-4
intraductal papillary-mucinous carcinoma (IPMC) 2988 0.00184910874919872
pancreatic cancer 2300 0.00189808133065414
pediatric high grade glioma 2712 0.00359133324605279
glioblastoma 5572 0.00364571305732386
intraductal papillary-mucinous neoplasm (IPMN) 3289 0.0103746961958442
breast carcinoma 1614 0.0169306954451475
gastric carcinoma 832 0.0232421550419849
lung cancer 4473 0.0330138542322783
Disease Target Count Z-score Confidence
Corneal disease 32 0.0 2.0

Expression

  Differential Expression (14)

Synonym

Accession P25067 Q5JV31 Q8TEJ5
Symbols FECD
PPCD
FECD1
PPCD2

Gene

  Ortholog (10)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Chicken OMA Inparanoid
Anole lizard OMA Inparanoid
Xenopus OMA EggNOG Inparanoid

 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)
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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
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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.
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