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Collagen, type V, alpha 2

This gene encodes an alpha chain for one of the low abundance fibrillar collagens. Fibrillar collagen molecules are trimers that can be composed of one or more types of alpha chains. Type V collagen is found in tissues containing type I collagen and appears to regulate the assembly of heterotypic fibers composed of both type I and type V collagen. This gene product is closely related to type XI collagen and it is possible that the collagen chains of types V and XI constitute a single collagen type with tissue-specific chain combinations. Mutations in this gene are associated with Ehlers-Danlos syndrome, types I and II. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: COL3A1, COL5A1, COL1A1, CAN, HAD
Papers on COL5A2
Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting.
Elefteriades et al., New Haven, United States. In Ann Thorac Surg, Nov 2015
The following 21-gene panel was tested by WES: ACTA2, ADAMTS10, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, ELN, FBLN4, FLNA, FBN1, FBN2, MYH11, MYLK, NOTCH1, PRKG1, SLC2A10, SMAD3, TGFB2, TGFBR1, TGFBR2.
Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype.
Greenspan et al., Madison, United States. In Am J Pathol, Jul 2015
Null alleles for the COL5A1 gene and missense mutations for COL5A1 or the COL5A2 gene underlie cases of classic Ehlers-Danlos syndrome, characterized by fragile, hyperextensible skin and hypermobile joints.
Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1.
Baas et al., Utrecht, Netherlands. In Am J Med Genet A, Jun 2015
Classic EDS, caused by heterozygous mutations in the COL5A1 or COL5A2 genes, is characterized by fragile, hyperextensible skin and joint laxity.
Actions of Huangqi decoction against rat liver fibrosis: a gene expression profiling analysis.
Su et al., Shanghai, China. In Chin Med, 2014
The expressions of PDGFra, PDGFrb, PDGFb, PDGFd, COL1A1, COL1A2, COL5A2, and THBS1 were significantly down-regulated by HQD (P < 0.001).
Integrated miRNA-mRNA analysis of Epstein-Barr virus-positive nasopharyngeal carcinoma.
Wang et al., Beijing, China. In Genet Mol Res, 2014
The interactions between DEGs and the let-7 or miR-29 families appeared strongest in this network, where CDC25A, COL3A1, and COL1A1 were regulated by several let-7 family members, while COL4A1 and COL5A2 were regulated by several miR-29 family members.
Transcriptome comparisons identify new cell markers for theca interna and granulosa cells from small and large antral ovarian follicles.
Rodgers et al., Adelaide, Australia. In Plos One, 2014
Many genes up regulated in theca interna were common to both sizes of follicles (MGP, DCN, ASPN, ALDH1A1, COL1A2, FN1, COL3A1, OGN, APOD, COL5A2, IGF2, NID1, LHFP, ACTA2, DUSP12, ACTG2, SPARCL1, FILIP1L, EGFLAM, ADAMDEC1, HPGD, COL12A1, FBLN5, RAMP2, COL15A1, PLK2, COL6A3, LOXL1, RARRES1, FLI1, LAMA2).
Analysis of gene expression in cyclooxygenase-2-overexpressed human osteosarcoma cell lines.
Kim et al., Ch'unch'ŏn, South Korea. In Genomics Inform, 2014
Among the upregulated genes, COL1A1, COL5A2, FBN1, HOXD10, RUNX2, and TRAPPC2are involved in bone and skeletal system development, while DDR2, RAC2, RUNX2, and TSPAN31are involved in the positive regulation of cell proliferation.
Microarray-based detection and expression analysis of extracellular matrix proteins in drug‑resistant ovarian cancer cell lines.
Zabel et al., Poznań, Poland. In Oncol Rep, 2014
These genes were: ITGB1BP3, COL3A1, COL5A2, COL15A1, TGFBI, DCN, LUM, MATN2, POSTN and EGFL6.
Screening of diagnostic markers for osteosarcoma.
Li et al., Shanghai, China. In Mol Med Report, 2014
Finally, three differentially‑expressed genes GJA1, COL1A2 and COL5A2 were identified, and an interaction network was successfully generated with COL1A2 and COL5A2 at the core.
Integrative network analysis of TCGA data for ovarian cancer.
Wang et al., Evanston, United States. In Bmc Syst Biol, 2013
We built a Bayesian network model with a logit link function to quantify the causal relationships among these features and discovered a set of 13 hub genes including ARID1A, C19orf53, CSKN2A1 and COL5A2.
A shift in the collagen V antigenic epitope leads to T helper phenotype switch and immune response to self-antigen leading to chronic lung allograft rejection.
Mohanakumar et al., Saint Louis, United States. In Clin Exp Immunol, 2012
Before but not after developing bronchiolitis obliterans, lung transplantation patients had antibodies to Col-V, alpha2(V). Pep5-8 to alpha1,2(V) and pep9-14 to alpha2(V)were immunodominant.
Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency.
Mátyás et al., Zürich, Switzerland. In Eur J Hum Genet, 2010
Physical and laboratory examinations revealed that true haploinsufficiency of COL3A1, COL5A2, and MSTN, but not that of SLC40A1, leads to a clinical phenotype.
Col V siRNA engineered tenocytes for tendon tissue engineering.
Ouyang et al., Hangzhou, China. In Plos One, 2010
Results describe the effect of collagen Va1/2 on the fibrillogenesis of Sprague-Dawley rat tenocytes, as well as the efficacy of Col V siRNA engineered tenocytes for tendon tissue engineering.
Candidate gene analysis of spontaneous preterm delivery: new insights from re-analysis of a case-control study using case-parent triads and control-mother dyads.
Jacobsson et al., Oslo, Norway. In Bmc Med Genet, 2010
This study suggests a fetal association of COL5A2 and a combined fetal-maternal association of COL5A1 with spontaneous preterm delivery.
Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type.
De Paepe et al., Gent, Belgium. In Genet Med, 2010
role of mutations in Ehlers-Danlos syndrome (Review)
Connective tissue and related disorders and preterm birth: clues to genes contributing to prematurity.
Strauss et al., Richmond, United States. In Placenta, 2009
The responsible genes include COL5A1, COL5A2, COL3A1, COL1A1, COL1A2, TNXB, PLOD1, ADAMTS2, CRTAP, LEPRE1 and ZMPSTE24.
Ehlers-Danlos Syndrome, Classic Type
De Paepe et al., Seattle, United States. In Unknown Journal, 2007
At least 50% of individuals with classic EDS have an identifiable pathogenic variant in COL5A1 or COL5A2, the genes encoding type V collagen; however, this number may be an underestimate, since no prospective molecular studies of COL5A1 and COL5A2 have been performed in a clinically well-defined group.
Molecular genetics in classic Ehlers-Danlos syndrome.
De Paepe et al., Gent, Belgium. In Am J Med Genet C Semin Med Genet, 2005
Mutations in the COL5A1 and the COL5A2 gene, encoding the alpha1 and the alpha2-chain of type V collagen respectively, are identified in approximately 50% of patients with a clinical diagnosis of classic EDS.
Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly.
Ramirez et al., New York City, United States. In Nat Genet, 1995
The tissue-specific organization of collagen molecules into tridimensional macroaggregates determines the physiomechanical properties of most connective tissues, but the factors and mechanisms controlling this process are unknown.
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