Property Summary

NCBI Gene PubMed Count 35
PubMed Score 16.32
PubTator Score 16.26

Knowledge Summary

Patent

No data available

Expression

Synonym

Accession P27658 D3DN42 Q53XI6 Q96D07
Symbols C3orf7

Gene

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.
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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
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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.
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