Property Summary

NCBI Gene PubMed Count 20
PubMed Score 10.56
PubTator Score 26.33

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (2)

Disease log2 FC p
sonic hedgehog group medulloblastoma 2.400 1.8e-05
pituitary cancer 1.900 7.3e-03

Gene RIF (14)

PMID Text
26486031 We highlight phenotypes of the 4 affected children from the 2 reported families: isolated congenital ptosis (one unilateral, one bilateral) and Duane syndrome (one unilateral, one bilateral) with synergistic divergence.
25500261 We identified COL25A1 mutations as a cause of autosomal-recessive congenital cranial dysinnervation disorder.
23018867 COL25A1 methylation correlates with severity of cervical intraepithelial neoplasia
22297151 The COL25A1 single nucleotide polymorphism rs13134663 was significantly associated with antisocial personality disorder, especially in subjects with comorbid substance dependence.
21688384 The next best locus for gene x gender interactions for age at onset was in COL25A1 gene at 4q25
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20332099 Observational study of gene-disease association. (HuGE Navigator)
19548013 COL25A1 leads to Alzheimer's disease-like pathology in vivo
18501477 provides genetic evidence of association between COL25A1 and risk for Alzheimer's disease
18501477 Observational study of gene-disease association. (HuGE Navigator)
16300410 suggest that CLAC becomes involved at an intermediate stage in the pathogenesis of Alzheimer's disease by binding to Abeta fibrils, including fibrils formed from peptides with truncated N- or C-termini, and thereby slows their growth
15853808 Results show that collagenous Alzheimer amyloid plaque component (CLAC) assembles amyloid-beta fibrils into fibril bundles that have an increased resistance to proteases.
15615705 CLACbinds to amyloid beta peptides through the positively charged amino acid cluster within the collagenous domain 1 and inhibits formation of amyloid fibrils
15522881 CLAC displays features characteristic of a collagen protein, ie. it forms a partly protease-resistant triple-helical structure, exhibits an intermediate affinity for heparin, and is glycosylated; binding domain between CLAC and amyloid beta-peptide

AA Sequence

MLLKKHAGKGGGREPRSEDPTPAEQHCARTMPPCAVLAALLSVVAVVSCLYLGVKTNDLQARIAALESAK      1 - 70
GAPSIHLLPDTLDHLKTMVQEKVERLLAQKSYEHMAKIRIAREAPSECNCPAGPPGKRGKRGRRGESGPP     71 - 140
GQPGPQGPPGPKGDKGEQGDQGPRMVFPKINHGFLSADQQLIKRRLIKGDQGQAGPPGPPGPPGPRGPPG    141 - 210
DTGKDGPRGMPGVPGEPGKPGEQGLMGPLGPPGQKGSIGAPGIPGMNGQKGEPGLPGAVGQNGIPGPKGE    211 - 280
PGEQGEKGDAGENGPKGDTGEKGDPGSSAAGIKGEPGESGRPGQKGEPGLPGLPGLPGIKGEPGFIGPQG    281 - 350
EPGLPGLPGTKGERGEAGPPGRGERGEPGAPGPKGKQGESGTRGPKGSKGDRGEKGDSGAQGPRGPPGQK    351 - 420
GDQGATEIIDYNGNLHEALQRITTLTVTGPPGPPGPQGLQGPKGEQGSPGIPGMDGEQGLKGSKGDMGDP    421 - 490
GMTGEKGGIGLPGLPGANGMKGEKGDSGMPGPQGPSIIGPPGPPGPHGPPGPMGPHGLPGPKGTDGPMGP    491 - 560
HGPAGPKGERGEKGAMGEPGPRGPYGLPGKDGEPGLDGFPGPRGEKGDLGEKGEKGFRGVKGEKGEPGQP    561 - 630
GLDGLDAPCQLGPDGLPMPGCWQK                                                  631 - 654
//

Text Mined References (21)

PMID Year Title
26486031 2015 Recessive COL25A1 mutations cause isolated congenital ptosis or exotropic Duane syndrome with synergistic divergence.
25500261 2015 Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder.
25133637 2014 Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults.
23018867 2012 Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia.
22297151 2012 Association of COL25A1 with comorbid antisocial personality disorder and substance dependence.
21688384 2011 Genome-wide association analysis of age at onset in schizophrenia in a European-American sample.
21408207 2011 Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20332099 2010 A systematic gene-based screen of chr4q22-q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.
19548013 2010 COL25A1 triggers and promotes Alzheimer's disease-like pathology in vivo.
18501477 2010 Genetic association to the amyloid plaque associated protein gene COL25A1 in Alzheimer's disease.
16300410 2005 CLAC binds to aggregated Abeta and Abeta fragments, and attenuates fibril elongation.
15853808 2005 Collagenous Alzheimer amyloid plaque component assembles amyloid fibrils into protease resistant aggregates.
15815621 2005 Generation and annotation of the DNA sequences of human chromosomes 2 and 4.
15615705 2005 CLAC binds to amyloid beta peptides through the positively charged amino acid cluster within the collagenous domain 1 and inhibits formation of amyloid fibrils.
15522881 2005 Characterization of the Alzheimer's disease-associated CLAC protein and identification of an amyloid beta-peptide-binding site.
15215182 2004 Mostly separate distributions of CLAC- versus Abeta40- or thioflavin S-reactivities in senile plaques reveal two distinct subpopulations of beta-amyloid deposits.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14656069 2003 Molecular identification of AMY, an Alzheimer disease amyloid-associated protein.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11927537 2002 CLAC: a novel Alzheimer amyloid plaque component derived from a transmembrane precursor, CLAC-P/collagen type XXV.