Gene Symbol: COL5A2
Description: collagen type V alpha 2 chain
Alias: EDSC, EDSCL2, collagen alpha-2(V) chain, AB collagen, collagen, fetal membrane, A polypeptide, type V preprocollagen alpha 2 chain
Species: human
Products:     COL5A2

Top Publications

  1. Richards A, Martin S, Nicholls A, Harrison J, Pope F, Burrows N. A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type II. J Med Genet. 1998;35:846-8 pubmed
    ..Here we characterise a COL5A2 mutation in an EDS II family...
  2. Takahara K, Schwarze U, Imamura Y, Hoffman G, Toriello H, Smith L, et al. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal pro-alpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am J Hum Genet. 2002;71:451-65 pubmed
    ..Mutations in the COL5A1 and COL5A2 genes, which encode type V collagen, have been identified in several individuals...
  3. Segev F, Heon E, Cole W, Wenstrup R, Young F, Slomovic A, et al. Structural abnormalities of the cornea and lid resulting from collagen V mutations. Invest Ophthalmol Vis Sci. 2006;47:565-73 pubmed
    ..of this study was to define the ocular phenotype resulting from mutations in the type V collagen genes COL5A1 and COL5A2 and to study the pathogenesis of anomalies in a Col5a1-deficient mouse...
  4. Symoens S, Syx D, Malfait F, Callewaert B, De Backer J, Vanakker O, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mutat. 2012;33:1485-93 pubmed publisher
    ..We analyzed COL5A1 and COL5A2 in 126 patients with a diagnosis or suspicion of classic EDS...
  5. Malfait F, Wenstrup R, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med. 2010;12:597-605 pubmed publisher
    ..50% of patients with a clinical diagnosis of classic Ehlers-Danlos syndrome harbor mutations in the COL5A1 and the COL5A2 gene, encoding the ?1 and the ?2-chain of type V collagen, respectively...
  6. Unsöld C, Pappano W, Imamura Y, Steiglitz B, Greenspan D. Biosynthetic processing of the pro-alpha 1(V)2pro-alpha 2(V) collagen heterotrimer by bone morphogenetic protein-1 and furin-like proprotein convertases. J Biol Chem. 2002;277:5596-602 pubmed
  7. Wenstrup R, Florer J, Willing M, Giunta C, Steinmann B, Young F, et al. COL5A1 haploinsufficiency is a common molecular mechanism underlying the classical form of EDS. Am J Hum Genet. 2000;66:1766-76 pubmed
    ..These findings indicate that the normal formation of the heterotypic collagen fibrils that contain types I, III, and V collagen requires the expression of both COL5A1 alleles. ..
  8. Michalickova K, Susic M, Willing M, Wenstrup R, Cole W. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. Hum Mol Genet. 1998;7:249-55 pubmed
    ..We have identified mutations of the COL5A2 gene, which encodes the alpha2(V) chain of type V collagen, in two unrelated patients with the severe type I form ..
  9. Meienberg J, Rohrbach M, Neuenschwander S, Spanaus K, Giunta C, Alonso S, et al. Hemizygous deletion of COL3A1, COL5A2, and MSTN causes a complex phenotype with aortic dissection: a lesson for and from true haploinsufficiency. Eur J Hum Genet. 2010;18:1315-21 pubmed publisher
    ..1q32.3. This deletion affects not only COL3A1 but also 21 other known genes (GULP1, DIRC1, COL5A2, WDR75, SLC40A1, ASNSD1, ANKAR, OSGEPL1, ORMDL1, LOC100129592, PMS1, MSTN, C2orf88, HIBCH, INPP1, MFSD6, TMEM194B, ..

More Information


  1. Fukuoka A, Koshiro K, Inoue S, Yoshida Y, Tanaka T, Ikeda T, et al. Hydrolytic stability of one-step self-etching adhesives bonded to dentin. J Adhes Dent. 2011;13:243-8 pubmed publisher
    ..The bond strength and ultramorphological data demonstrated that the bond of 1-SEAs to dentin degrades with time, although the degree of degradation is obviously material dependent. ..
  2. Charone S, Kuchler E, Leite A, Silva Fernandes M, Taioqui Pelá V, Martini T, et al. Analysis of Polymorphisms in Genes Differentially Expressed in the Enamel of Mice with Different Genetic Susceptibilities to Dental Fluorosis. Caries Res. 2019;53:228-233 pubmed publisher
    ..Seventeen genetic polymorphisms in Amelx, Ambn, Ambn, Col14a1, Col1a1, Col5a2, Enam, Fam20a, Fam83h, Foxo1, Klk4, Mmp20, Serpinf1, Serpinh1, Smad3, Tuft1, and Wdr72 were genotyped by real-time ..
  3. Tang X, Huang X, Wang D, Yan R, Lu F, Cheng C, et al. Identifying gene modules of thyroid cancer associated with pathological stage by weighted gene co-expression network analysis. Gene. 2019;: pubmed publisher
    ..DCN, COL1A1, COL1A2, COL5A2 and COL3A1 were hub genes in the co-expressed network...
  4. Wypchło M, Korwin Kossakowska A, Bereznowski A, Hecold M, Lewczuk D. Polymorphisms in selected genes and analysis of their relationship with osteochondrosis in Polish sport horse breeds. Anim Genet. 2018;49:623-627 pubmed publisher
    ..Seven SNPs located in the MATN1, CPVL, HYAL1, XIRP2, FRZB, COL5A2 and IGF1 genes were found to be associated with occurrence of osteochondrotic lesions in different joints...
  5. Flood H, Bolte C, Dasgupta N, Sharma A, Zhang Y, Gandhi C, et al. The Forkhead box F1 transcription factor inhibits collagen deposition and accumulation of myofibroblasts during liver fibrosis. Biol Open. 2019;8: pubmed publisher
    ..Overexpression of FOXF1 inhibits Col1a2, Col5a2, and MMP2 in primary murine HSCs in vitro Altogether, FOXF1 prevents aberrant ECM depositions ..
  6. Edwards D, Romero R, Kusanovic J, Hassan S, Mazaki Tovi S, Vaisbuch E, et al. Polymorphisms in maternal and fetal genes encoding for proteins involved in extracellular matrix metabolism alter the risk for small-for-gestational-age. J Matern Fetal Neonatal Med. 2011;24:362-80 pubmed publisher
    ..Multi-locus analyses with MDR identified a two SNP model with maternal variants collagen type V α 2 (COL5A2) and plasminogen activator urokinase (PLAU) predicting SGA outcome correctly 59% of the time (p = 0.035)...
  7. Dong Y, Yang L, Luo W, Zhu T, Yan W, Kong J, et al. Mannose receptor C type 2 mediates 1,25(OH)2D3/vitamin D receptor-regulated collagen metabolism through collagen type 5, alpha 2 chain and matrix metalloproteinase 13 in murine MC3T3-E1 cells. Mol Cell Endocrinol. 2019;483:74-86 pubmed publisher
    ..Then we found MRC2 down-regulated COL5A2 and up-regulated MMP13...
  8. Baird A, Carter S, Innes J, Ollier W, Short A. Genetic basis of cranial cruciate ligament rupture (CCLR) in dogs. Connect Tissue Res. 2014;55:275-81 pubmed publisher
    ..identified SNPs in key genes involved in ligament strength, stability and extracellular matrix formation (COL5A1, COL5A2, COL1A1, COL3A1, COL11A1, COL24A1, FBN1, LOX, LTBP2) which were significantly associated with CCLR susceptibility ..
  9. Wang P, Magdolen V, Seidl C, Dorn J, Drecoll E, Kotzsch M, et al. Kallikrein-related peptidases 4, 5, 6 and 7 regulate tumour-associated factors in serous ovarian cancer. Br J Cancer. 2018;119:1-9 pubmed publisher
    ..approaches, PCR arrays, genome-wide microarray and proteome analyses, we identified 10 candidates (MSN, KRT19, COL5A2, COL1A2, BMP5, F10, KRT7, JUNB, BMP4, MMP1)...
  10. Nielsen R, Couppé C, Jensen J, Olsen M, Heinemeier K, Malfait F, et al. Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients. FASEB J. 2014;28:4668-76 pubmed publisher
    ..Mutation analyses (COL5A1 and COL5A2) were performed in the patients. COL5A1 mutations were found in 3 of 4 of the patients with cEDS...
  11. Zhang Q, Burdette J, Wang J. Integrative network analysis of TCGA data for ovarian cancer. BMC Syst Biol. 2014;8:1338 pubmed publisher
    ..relationships among these features and discovered a set of 13 hub genes including ARID1A, C19orf53, CSKN2A1 and COL5A2. The directed graph revealed many potential genetic pathways, some of which confirmed the existing results in the ..
  12. Monroe G, Harakalová M, van der Crabben S, Majoor Krakauer D, Bertoli Avella A, Moll F, et al. Familial Ehlers-Danlos syndrome with lethal arterial events caused by a mutation in COL5A1. Am J Med Genet A. 2015;167:1196-203 pubmed publisher
    ..Classic EDS, caused by heterozygous mutations in the COL5A1 or COL5A2 genes, is characterized by fragile, hyperextensible skin and joint laxity...
  13. Hatzirodos N, Hummitzsch K, Irving Rodgers H, Rodgers R. Transcriptome comparisons identify new cell markers for theca interna and granulosa cells from small and large antral ovarian follicles. PLoS ONE. 2015;10:e0119800 pubmed publisher 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, ..
  14. Yan L, Zhan C, Wang S, Wang S, Guo L. Genetic analysis of radiation-specific biomarkers in sinonasal squamous cell carcinomas. Tumour Biol. 2016;37:12001-12009 pubmed
    ..The expression of several core genes (CCND2, COL5A2, GADD45B, and THBS2) was confirmed with reverse transcription quantitative PCR (RT-qPCR) in a larger series of ..
  15. Xi W, Liu Y, Sun X, Shan J, Yi L, Zhang T. Bioinformatics analysis of RNA-seq data revealed critical genes in colon adenocarcinoma. Eur Rev Med Pharmacol Sci. 2017;21:3012-3020 pubmed
    ..Several critical genes were disclosed, such as MYH11, COL5A2 and ribosomal proteins. Nine relevant small molecule drugs were identified, such as scriptaid and STOCK1N-35874...
  16. Miwa T, Kanda M, Tanaka H, Tanaka C, Kobayashi D, Umeda S, et al. FBXO50 Enhances the Malignant Behavior of Gastric Cancer Cells. Ann Surg Oncol. 2017;24:3771-3779 pubmed publisher
    ..FBXO50 mRNA were increased in five GC cell lines and positively correlated with those of ITGA5, ITGB1, MMP2, MSN, COL5A2, GNG11, and WNT5A. Copy number gain of the FBXO50 locus was detected in four GC cell lines...
  17. Colombi M, Dordoni C, Venturini M, Zanca A, Calzavara Pinton P, Ritelli M. Delineation of Ehlers-Danlos syndrome phenotype due to the c.934C>T, p.(Arg312Cys) mutation in COL1A1: Report on a three-generation family without cardiovascular events, and literature review. Am J Med Genet A. 2017;173:524-530 pubmed publisher
    ..Mutations in COL5A1 and COL5A2 encoding type V collagen account for more than 90% of the patients so far characterized...
  18. Li Z, Zhou C, Tan L, Chen P, Cao Y, Li C, et al. Variants of genes encoding collagens and matrix metalloproteinase system increased the risk of aortic dissection. Sci China Life Sci. 2017;60:57-65 pubmed publisher
    ..genes, we performed transcriptome sequencing and pedigree co-segregation analysis in some genes and generated Col5a2 knockout rats. We identified 257 pathogenic or likely pathogenic variants which involved 88...
  19. Weng T, Wang C, Hung Y, Chen W, Chen Y, Lai M. Differential Expression Pattern of THBS1 and THBS2 in Lung Cancer: Clinical Outcome and a Systematic-Analysis of Microarray Databases. PLoS ONE. 2016;11:e0161007 pubmed publisher
    ..Patients with a high expression of seven TSHB2-coexpressed genes (CHI3L1, COL5A2, COL11A1, FAP, MXRA5, THY1, and VCAN) had poor survival rates...
  20. Ziganshin B, Bailey A, Coons C, Dykas D, Charilaou P, Tanriverdi L, et al. Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting. Ann Thorac Surg. 2015;100:1604-11 pubmed publisher
    ..6%]) with TAAD. 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...
  21. Pinheiro M, Drigo S, Tonhosolo R, Andrade S, Marchi F, Jurisica I, et al. HABP2 p.G534E variant in patients with family history of thyroid and breast cancer. Oncotarget. 2017;8:40896-40905 pubmed publisher
    ..with deregulation of the extracellular matrix organization pathway (CTSB, TNXB, COL4A3, COL16A1, COL24A1, COL5A2, NID1, LOXL2, MMP11, TRIM24 and MUSK) and DNA repair function (NBN and MSH2) were detected by WES, suggesting that ..
  22. Wang Y. Transcriptional Regulatory Network Analysis for Gastric Cancer Based on mRNA Microarray. Pathol Oncol Res. 2017;23:785-791 pubmed publisher
    ..047809) and WNT signaling pathway (p = 0.048077). PPI network with 247 nodes and 913 edges were constructed and COL5A2 was the hub node...
  23. Zhu L, Miao X, Wang N. Integrated miRNA-mRNA analysis of Epstein-Barr virus-positive nasopharyngeal carcinoma. Genet Mol Res. 2015;14:6028-36 pubmed publisher 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...
  24. Mak A, Tang P, Cleveland C, Smith M, Kari Connolly M, Katsumoto T, et al. Brief Report: Whole-Exome Sequencing for Identification of Potential Causal Variants for Diffuse Cutaneous Systemic Sclerosis. Arthritis Rheumatol. 2016;68:2257-62 pubmed publisher
    ..Newly identified genes (COL4A3, COL4A4, COL5A2, COL13A1, and COL22A1) were significantly enriched in the extracellular matrix-related pathway, which is relevant ..
  25. Sheets J, Iwanicki M, Liu J, Howitt B, Hirsch M, Gubbels J, et al. SUSD2 expression in high-grade serous ovarian cancer correlates with increased patient survival and defective mesothelial clearance. Oncogenesis. 2016;5:e264 pubmed publisher
    ..SUSD2 and well-characterized mesenchymal proteins, including Twist-1, Zeb-1, N-cadherin, STEAP1, AHNAK, Snail-1, COL5A2 and Snail-3 in OVCAR3, OVSAHO and KURAMOCHI cell line models...
  26. Shen L, Zhao L, Tang J, Wang Z, Bai W, Zhang F, et al. Key Genes in Stomach Adenocarcinoma Identified via Network Analysis of RNA-Seq Data. Pathol Oncol Res. 2017;23:745-752 pubmed publisher
    ..A total of 20 drugs, 9 TFs and 6 miRNAs were acquired that may regulate the DEGs. NFAT-COL1A1/ANXA1, HSF2-FOS, SREBP-IL1RN and miR-26-COL5A2 regulation axes may be important mechanisms for STAD.
  27. Kline R, Kaifer K, Osman E, Carella F, Tiberi A, Ross J, et al. Comparison of independent screens on differentially vulnerable motor neurons reveals alpha-synuclein as a common modifier in motor neuron diseases. PLoS Genet. 2017;13:e1006680 pubmed publisher
    ..This cross species comparison has generated a refined list of differentially expressed genes, including CELF5, Col5a2, PGEMN1, SNCA, Stmn1 and HOXa5, alongside a further enrichment for synaptic and axonal transcripts...
  28. Cheng M, An S, Li J. Identifying key genes associated with acute myocardial infarction. Medicine (Baltimore). 2017;96:e7741 pubmed publisher
    ..A total of 41 DEGs, such as SOCS3, VAPA, and COL5A2, are speculated to have roles in the pathogenesis of AMI; 2 transcription factors FOXO3 and MYBL2, and 2 miRNAs ..
  29. Myers J, Loidl H, Seyer J, Dion A. Complete primary structure of the human alpha 2 type V procollagen COOH-terminal propeptide. J Biol Chem. 1985;260:11216-22 pubmed
  30. Ritelli M, Dordoni C, Venturini M, Chiarelli N, Quinzani S, Traversa M, et al. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013;8:58 pubmed publisher
    ..that was adopted for mutation detection consisted of sequencing the COL5A1 gene and, if no mutation was detected, COL5A2 analysis...
  31. Egusa H, Iida K, Kobayashi M, Lin T, Zhu M, Zuk P, et al. Downregulation of extracellular matrix-related gene clusters during osteogenic differentiation of human bone marrow- and adipose tissue-derived stromal cells. Tissue Eng. 2007;13:2589-600 pubmed
    ..INT)-beta3, and TenascinX genes were only downregulated in osteogenic BMSCs, whereas COL1A2, COL3A1, COL4A1, COL5A2, COL15A1, osteopontin, osteonectin, and INT-beta1 genes were only downregulated in osteogenic ASCs...
  32. Mirza Z, Rajeh N. Identification Of Electrophysiological Changes In Alzheimer's Disease: A Microarray Based Transcriptomics And Molecular Pathway Analysis Study. CNS Neurol Disord Drug Targets. 2017;: pubmed publisher
    ..12 (RASL12) were most up-regulated genes, while neurofilament light polypeptide (NEFL); collagen, type V, alpha 2 (COL5A2); visinin-like 1 (VSNL1); cannabinoid receptor 1 (brain) (CNR1); neurofilament, medium polypeptide (NEFM); ..
  33. Gopalakrishnan B, Wang W, Greenspan D. Biosynthetic processing of the Pro-alpha1(V)Pro-alpha2(V)Pro-alpha3(V) procollagen heterotrimer. J Biol Chem. 2004;279:30904-12 pubmed
  34. Fang M, Yu C, Chen S, Xiong W, Li X, Zeng R, et al. Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing. Sci Rep. 2017;7:10035 pubmed publisher
    ..5%). Among the 27 VUS, 14 (51.9%) were in the FBN1 gene, 3 in Col5A2, 2 in ACTA2, 2 in MYH11, 2 in MYLK, 2 in SLC2A10, 1 in MSTN and 1 in SMAD3 respectively...
  35. Vastrad B, Vastrad C, Godavarthi A, Chandrashekar R. Molecular mechanisms underlying gliomas and glioblastoma pathogenesis revealed by bioinformatics analysis of microarray data. Med Oncol. 2017;34:182 pubmed publisher
    ..TSHR were selected, while the significant enriched pathway (amebiasis) for down-regulated gene such as COL3A1, COL5A2, LAMA2 were selected as well as significant GO term (RNA polymerase II core promoter proximal region sequence-..
  36. Grond Ginsbach C, Wigger F, Morcher M, von Pein F, Grau A, Hausser I, et al. Sequence analysis of the COL5A2 gene in patients with spontaneous cervical artery dissections. Neurology. 2002;58:1103-5 pubmed
    ..The T1227S mutation and the V509A/P830L haplotype also were detected among 50 healthy subjects. The D1429V substitution was detected neither in a series of 150 healthy control subjects nor among 50 additional patients with sCAD. ..
  37. Qiu H, Zhu B, Ni S. Identification of genes associated with primary open-angle glaucoma by bioinformatics approach. Int Ophthalmol. 2018;38:19-28 pubmed publisher
    ..Centrality analysis screened out 20 genes, among which COL4A4, COL3A1, COL1A2, ITGB5, COL5A2, and COL5A1 were shared in ECM-receptor interaction and focal adhesion pathways...
  38. Li S, Liu X, Liu T, Meng X, Yin X, Fang C, et al. Identification of Biomarkers Correlated with the TNM Staging and Overall Survival of Patients with Bladder Cancer. Front Physiol. 2017;8:947 pubmed publisher
    ..Survival analysis of hub genes suggested that lower expression of MMP11, COL5A2, CDC25B, TOP2A, CENPF, CDCA3, TK1, TPX2, CDCA8, AEBP1, and FOXM1were associated with better overall survival of BC ..
  39. Myers J, Loidl H, Stolle C, Seyer J. Partial covalent structure of the human alpha 2 type V collagen chain. J Biol Chem. 1985;260:5533-41 pubmed
    ..Voss, T., Kuhn, K. and Engel, J. (1984) J. Mol. Biol. 172, 325-343). ..
  40. Greenspan D, Hoffman G, Lee B. High levels of expression of full length human pro-alpha 2(V) collagen cDNA in pro-alpha 2(V)-deficient hamster cells. J Biol Chem. 1989;264:20683-7 pubmed
    ..These chains were pepsin sensitive, indicating that pro-alpha 2(V) chains can be secreted as nonstable homotrimers or as free chains. ..
  41. Wright G, Hughes A, Regan M, Doherty M. Association of two loci on chromosome 2q with nodal osteoarthritis. Ann Rheum Dis. 1996;55:317-9 pubmed
    ..Confirmation of these findings in large independent data sets and further analysis of candidate genes in this region will be important in unravelling the molecular basis for this common disease. ..
  42. Park A, Phillips C, Pfeiffer F, Roenneburg D, Kernien J, Adams S, et al. Homozygosity and Heterozygosity for Null Col5a2 Alleles Produce Embryonic Lethality and a Novel Classic Ehlers-Danlos Syndrome-Related Phenotype. Am J Pathol. 2015;185:2000-11 pubmed publisher
    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...
  43. Greenspan D, Lee S, Lee B, Hoffman G. Homology between alpha 2(V) and alpha 1(III) collagen promoters and evidence for negatively acting elements in the alpha 2(V) first intron and 5' flanking sequences. Gene Expr. 1991;1:29-39 pubmed
    ..Expression assays also identified negatively acting elements, in intron and 5' flanking sequences, which inhibit transcription from the alpha 2(V) promoter. ..
  44. Roulet M, Välkkilä M, Chanut Delalande H, Hämäläinen E, Kessler E, Ala Kokko L, et al. The collagen V homotrimer [alpha1(V)](3) production is unexpectedly favored over the heterotrimer [alpha1(V)](2)alpha2(V) in recombinant expression systems. J Biomed Biotechnol. 2010;2010:376927 pubmed publisher
    ..The different constructs and transfected cells we have generated represent useful tools to further investigate the mechanisms of collagen trimer assembly. ..
  45. Mann K. Isolation of the alpha 3-chain of human type V collagen and characterization by partial sequencing. Biol Chem Hoppe Seyler. 1992;373:69-75 pubmed
    ..N-Terminal sequence analysis of the fragments and comparison to sequences contained in a database indicated a relatively high similarity of the alpha 3(V)-chain to alpha 1(V) and alpha 1(XI) with an identity of approximately 73%. ..
  46. Codreanu S, Hoeksema M, Slebos R, Zimmerman L, Rahman S, Li M, et al. Identification of Proteomic Features To Distinguish Benign Pulmonary Nodules from Lung Adenocarcinoma. J Proteome Res. 2017;16:3266-3276 pubmed publisher
    ..analyses confirmed significant nodule-specific abundance of 10 proteins including ALOX5, ALOX5AP, CCL19, CILP1, COL5A2, ITGB2, ITGAX, PTPRE, S100A12, and SLC2A3 and significant ADC-specific abundance of CEACAM6, CRABP2, LAD1, PLOD2, ..
  47. Weil D, Bernard M, Gargano S, Ramirez F. The pro alpha 2(V) collagen gene is evolutionarily related to the major fibrillar-forming collagens. Nucleic Acids Res. 1987;15:181-98 pubmed
    ..These studies have therefore provided conclusive evidence which categorizes the Type V collagen as a member of the Group 1 molecules, or fibrillar-forming collagens. ..
  48. Moradi Ameli M, Rousseau J, Kleman J, Champliaud M, Boutillon M, Bernillon J, et al. Diversity in the processing events at the N-terminus of type-V collagen. Eur J Biochem. 1994;221:987-95 pubmed
    ..These results indicate that the alpha 1(V) chain exists in an additional stoichiometry, different from [alpha 1(V)]2 alpha 2(V).(ABSTRACT TRUNCATED AT 400 WORDS) ..
  49. Tsipouras P, Schwartz R, Liddell A, Salkeld C, Weil D, Ramirez F. Genetic distance of two fibrillar collagen loci, COL3A1 and COL5A2, located on the long arm of human chromosome 2. Genomics. 1988;3:275-7 pubmed
    Two of the human fibrillar collagen genes, proa1(III) (COL3A1) and proa2(V) (COL5A2), map to the same region of the long arm of chromosome 2...
  50. Zeng X, Liu X, Liu T, Wang X. The clinical significance of COL5A2 in patients with bladder cancer: A retrospective analysis of bladder cancer gene expression data. Medicine (Baltimore). 2018;97:e0091 pubmed publisher
    ..The present study was aimed to investigate the relationship between the expression of collagen type V alpha 2 chain (COL5A2) and clinical outcomes of patients with bladder cancer...
  51. Bertelli R, Valenti F, Oleggini R, Caridi G, Altieri P, Coviello D, et al. Cell-specific regulation of alpha1(III) and alpha2(V) collagen by TGF-beta1 in tubulointerstitial cell models. Nephrol Dial Transplant. 1998;13:573-9 pubmed
    ..cell transfection employing CV1 fibroblasts as the unique suitable model, and chimaeric constructs of COL3A1 and COL5A2 promoters fused to the luciferase reporter gene, demonstrated a twofold stimulation of a large 1436 COL3A1 ..
  52. Woodbury D, Benson Chanda V, Ramirez F. Amino-terminal propeptide of human pro-alpha 2(V) collagen conforms to the structural criteria of a fibrillar procollagen molecule. J Biol Chem. 1989;264:2735-8 pubmed
  53. Park A, Phan N, Massoudi D, Liu Z, Kernien J, Adams S, et al. Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections. Am J Pathol. 2017;187:2300-2311 pubmed publisher
    ..cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused ..
  54. Myking S, Myhre R, Gjessing H, Morken N, Sengpiel V, Williams S, et al. 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. BMC Med Genet. 2011;12:174 pubmed publisher
    ..The most consistent significant fetal gene across all analyses was COL5A2. The functionally similar COL5A1 was significant when combining fetal and maternal genotypes...
  55. McCarthy J, Meyer J, Moliterno D, Newby L, Rogers W, Topol E. Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients. Hum Genet. 2003;114:87-98 pubmed
    ..Polymorphisms in eight genes, including LDLR, GBE1, IL1R1, TGFB1, IL6, COL5A2, SELE and LIPC, were associated with metabolic syndrome in the whole population ( P values ranged from 0.047 to 0...
  56. Shrivastava A, Radziejewski C, Campbell E, Kovac L, McGlynn M, Ryan T, et al. An orphan receptor tyrosine kinase family whose members serve as nonintegrin collagen receptors. Mol Cell. 1997;1:25-34 pubmed
  57. Tiriveedhi V, Angaswamy N, Brand D, Weber J, Gelman A, Hachem R, et al. 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. Clin Exp Immunol. 2012;167:158-68 pubmed publisher
    ..We conclude that a shift in immunodominance of self-antigenic determinants of Col-V results in induction of IFN-? and IL-17 with loss of tolerance leading to autoimmunity to Col-V, which leads to chronic lung allograft rejection. ..
  58. Emanuel B, Cannizzaro L, Seyer J, Myers J. Human alpha 1(III) and alpha 2(V) procollagen genes are located on the long arm of chromosome 2. Proc Natl Acad Sci U S A. 1985;82:3385-9 pubmed
    ..By using normal and translocated cell lines, our results show that both the alpha 1(III) and alpha 2(V) procollagen genes map to the q24.3----q31 region of chromosome 2. ..
  59. Välkkilä M, Melkoniemi M, Kvist L, Kuivaniemi H, Tromp G, Ala Kokko L. Genomic organization of the human COL3A1 and COL5A2 genes: COL5A2 has evolved differently than the other minor fibrillar collagen genes. Matrix Biol. 2001;20:357-66 pubmed
    We report here on the complete structure of the human COL3A1 and COL5A2 genes...
  60. Azuaje F, Zhang L, Jeanty C, Puhl S, Rodius S, Wagner D. Analysis of a gene co-expression network establishes robust association between Col5a2 and ischemic heart disease. BMC Med Genomics. 2013;6:13 pubmed publisher
    ..05). Col5a2, a gene previously not specifically linked to MI response but responsible for the classic type of Ehlers-Danlos ..