Collagen Type I Alpha 2 (COL1a2)
[Edit]COL1-A2; OI4; Collagen Alpha-2(I)chain; osteogenesis imperfecta type IV; Collagen Of Skin,Tendon And bone,Alpha-2 Chain
Collagen alpha-2(I) chain is a protein, one of the chains for type I collagen, the fibrillar collagen found in most connective tissues. Mutations in this gene are associated with osteogenesis imperfecta, Ehlers-Danlos syndrome, idiopathic osteoporosis, and atypical Marfan syndrome. De Wet et al. (1987) isolated 60 kb of cloned DNA containing the entire COL1A2 gene and 22 kb of flanking sequences. Like the homologous avian gene, the 1,366 amino acid residues of the human prepropolypeptide chain are encoded by 52 exons. Analysis of the 5-prime and 3-prime untranslated regions conclusively established the nature of 5 polymorphic mRNA transcripts. The exons are equally distributed as follows: 6 in the N-propeptide domain, 42 in the alpha-chain region, and 4 in the C-propeptide domain.
Organism species: Homo sapiens (Human)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA215Hu01 | Recombinant Collagen Type I Alpha 2 (COL1a2) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAA215Hu01 | Polyclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. |
MAA215Hu22 | Monoclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. | |
PAA215Hu02 | Polyclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. | |
Assay Kits | SEA215Hu | ELISA Kit for Collagen Type I Alpha 2 (COL1a2) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Mus musculus (Mouse)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA215Mu01 | Recombinant Collagen Type I Alpha 2 (COL1a2) | Positive Control; Immunogen; SDS-PAGE; WB. |
APA215Mu01 | Active Collagen Type I Alpha 2 (COL1a2) | Cell culture; Activity Assays. | |
Antibodies | LAA215Mu71 | Biotin-Linked Polyclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC. |
PAA215Mu01 | Polyclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. | |
Assay Kits | SEA215Mu | ELISA Kit for Collagen Type I Alpha 2 (COL1a2) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Rattus norvegicus (Rat)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA215Ra01 | Recombinant Collagen Type I Alpha 2 (COL1a2) | Positive Control; Immunogen; SDS-PAGE; WB. |
APA215Ra01 | Active Collagen Type I Alpha 2 (COL1a2) | Cell culture; Activity Assays. | |
Antibodies | LAA215Ra71 | Biotin-Linked Polyclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC. |
Assay Kits | SEA215Ra | ELISA Kit for Collagen Type I Alpha 2 (COL1a2) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Oryctolagus cuniculus (Rabbit)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA215Rb01 | Recombinant Collagen Type I Alpha 2 (COL1a2) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAA215Rb51 | Polyclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. |
MAA215Rb21 | Monoclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. | |
Assay Kits | SEA215Rb | ELISA Kit for Collagen Type I Alpha 2 (COL1a2) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Canis familiaris; Canine (Dog)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA215Ca01 | Recombinant Collagen Type I Alpha 2 (COL1a2) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAA215Ca01 | Polyclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. |
MAA215Ca21 | Monoclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. | |
Assay Kits | SEA215Ca | ELISA Kit for Collagen Type I Alpha 2 (COL1a2) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Sus scrofa; Porcine (Pig)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | n/a | Recombinant Collagen Type I Alpha 2 (COL1a2) | Recombinant Protein Customized Service Offer |
Antibodies | n/a | Monoclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | Monoclonal Antibody Customized Service Offer |
n/a | Polyclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | Polyclonal Antibody Customized Service Offer | |
Assay Kits | SEA215Po | ELISA Kit for Collagen Type I Alpha 2 (COL1a2) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Bos taurus; Bovine (Cattle)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA215Bo01 | Recombinant Collagen Type I Alpha 2 (COL1a2) | Positive Control; Immunogen; SDS-PAGE; WB. |
Antibodies | PAA215Bo01 | Polyclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. |
MAA215Bo21 | Monoclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. | |
Assay Kits | SEA215Bo | ELISA Kit for Collagen Type I Alpha 2 (COL1a2) | Enzyme-linked immunosorbent assay for Antigen Detection. |
Organism species: Chicken (Gallus)
CATALOG NO. | PRODUCT NAME | APPLICATIONS | |
Proteins | RPA215Ga01 | Recombinant Collagen Type I Alpha 2 (COL1a2) | Positive Control; Immunogen; SDS-PAGE; WB. |
APA215Ga61 | Active Collagen Type I Alpha 2 (COL1a2) | Cell culture; Activity Assays. | |
RPA215Ga02 | Recombinant Collagen Type I Alpha 2 (COL1a2) | Positive Control; Immunogen; SDS-PAGE; WB. | |
Antibodies | PAA215Ga01 | Polyclonal Antibody to Collagen Type I Alpha 2 (COL1a2) | WB; IHC; ICC; IP. |
Assay Kits | n/a | CLIA Kit for Collagen Type I Alpha 2 (COL1a2) | CLIA Kit Customized Service Offer |
n/a | ELISA Kit for Collagen Type I Alpha 2 (COL1a2) | ELISA Kit Customized Service Offer |
- "Organization of the human pro-alpha 2(I) collagen gene."J. Biol. Chem. 262:16032-16036(1987) [PubMed] [Europe PMC] [Abstract]
- "The human type I collagen mutation database."Nucleic Acids Res. 25:181-187(1997) [PubMed] [Europe PMC] [Abstract]
- "Analysis of the COL1A1 and COL1A2 genes by PCR amplification and scanning by conformation-sensitive gel electrophoresis identifies only COL1A1 mutations in 15 patients with osteogenesis imperfecta type I: identification of common sequences of null-allele mutations."Am. J. Hum. Genet. 62:98-110(1998) [PubMed] [Europe PMC] [Abstract]
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
- "Structure of a full-length cDNA clone for the prepro alpha 2(I) chain of human type I procollagen. Comparison with the chicken gene confirms unusual patterns of gene conservation."Biochem. J. 252:633-640(1988) [PubMed] [Europe PMC] [Abstract]
- "Analysis of the promoter region and the N-propeptide domain of the human pro alpha 2(I) collagen gene."Nucleic Acids Res. 13:3427-3438(1985) [PubMed] [Europe PMC] [Abstract]
- "Fine structural analysis of the unique 5' region of the human COL1A2 gene containing two regions of dinucleotide repeats adjacent to the transcriptional start site."Connect. Tissue Res. 30:1-6(1998)
- "Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient."J. Biol. Chem. 265:16007-16011(1990) [PubMed] [Europe PMC] [Abstract]
- "Ehlers Danlos syndrome type VIIB. Incomplete cleavage of abnormal type I procollagen by N-proteinase in vitro results in the formation of copolymers of collagen and partially cleaved pNcollagen that are near circular in cross-section."J. Biol. Chem. 267:9093-9100(1992) [PubMed] [Europe PMC] [Abstract]
- "Isolation and characterization of the cyanogen bromide peptides from the alpha 1 and alpha 2 chains of human skin collagen."Biochemistry 9:4699-4706(1970) [PubMed] [Europe PMC] [Abstract]
- "A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother."J. Biol. Chem. 263:11407-11413(1988) [PubMed] [Europe PMC] [Abstract]
- "Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV."J. Bone Miner. Res. 7:793-805(1992) [PubMed] [Europe PMC] [Abstract]
- "Comparative sequence studies on alpha2-CB2 from calf, human, rabbit and pig-skin collagen."Eur. J. Biochem. 47:257-261(1974) [PubMed] [Europe PMC] [Abstract]
- "Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain."Proc. Natl. Acad. Sci. U.S.A. 85:5254-5258(1988) [PubMed] [Europe PMC] [Abstract]
- "Isolation and characterization of a human pro alpha 2(I) collagen gene segment."J. Invest. Dermatol. 82:265-269(1984) [PubMed] [Europe PMC] [Abstract]
- "Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene."Biochemistry 22:1139-1145(1983) [PubMed] [Europe PMC] [Abstract]
- "Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat pattern."J. Biol. Chem. 267:7751-7757(1992) [PubMed] [Europe PMC] [Abstract]
- "Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix."Hum. Mol. Genet. 3:2201-2206(1994) [PubMed] [Europe PMC] [Abstract]
- "Growth-dependent modulation of type I collagen production and mRNA levels in cultured human skin fibroblasts."Biochim. Biophys. Acta 1049:171-176(1990) [PubMed] [Europe PMC] [Abstract]
- "Cloning a cDNA for the pro-alpha 2 chain of human type I collagen."Proc. Natl. Acad. Sci. U.S.A. 78:3516-3520(1981) [PubMed] [Europe PMC] [Abstract]
- "Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype."J. Biol. Chem. 263:7734-7740(1988) [PubMed] [Europe PMC] [Abstract]
- "Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts."J. Biol. Chem. 258:10128-10135(1983) [PubMed] [Europe PMC] [Abstract]
- "Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation."J. Biol. Chem. 259:12941-12944(1984) [PubMed] [Europe PMC] [Abstract]
- "Mutations in collagen genes: causes of rare and some common diseases in humans."FASEB J. 5:2052-2060(1991) [PubMed] [Europe PMC] [Abstract]
- "Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels."Hum. Mutat. 9:300-315(1997) [PubMed] [Europe PMC] [Abstract]
- "Osteogenesis imperfecta: translation of mutation to phenotype."J. Med. Genet. 28:433-442(1991) [PubMed] [Europe PMC] [Abstract]
- "Resveratrol-induced changes of the human adipocyte secretion profile."J. Proteome Res. 11:4733-4743(2012) [PubMed] [Europe PMC] [Abstract]
- "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome."J. Proteomics 96:253-262(2014) [PubMed] [Europe PMC] [Abstract]
- "Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain."J. Biol. Chem. 262:16376-16385(1987) [PubMed] [Europe PMC] [Abstract]
- "A single base mutation that converts glycine 907 of the alpha 2(I) chain of type I procollagen to aspartate in a lethal variant of osteogenesis imperfecta. The single amino acid substitution near the carboxyl terminus destabilizes the whole triple helix."J. Biol. Chem. 264:3002-3006(1989) [PubMed] [Europe PMC] [Abstract]
- "Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta."J. Biol. Chem. 264:15809-15812(1989) [PubMed] [Europe PMC] [Abstract]
- "Two cysteine substitutions in the type I procollagen genes (COL1A1 and COL1A2) that cause lethal osteogenesis imperfecta. The location of glycine substitutions does not in any simple way predict their effects on protein function or phenotype."Am. J. Hum. Genet. 47:A216-A216(1990)
- "Characterization of a type I collagen alpha 2(I) glycine-586 to valine substitution in osteogenesis imperfecta type IV. Detection of the mutation and prenatal diagnosis by a chemical cleavage method."Biochem. J. 276:765-770(1991) [PubMed] [Europe PMC] [Abstract]
- "The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helix."J. Biol. Chem. 266:2590-2594(1991) [PubMed] [Europe PMC] [Abstract]
- "Substitutions for glycine alpha 1-637 and glycine alpha 2-694 of type I procollagen in lethal osteogenesis imperfecta. The conformational strain on the triple helix introduced by a glycine substitution can be transmitted along the helix."J. Biol. Chem. 266:15608-15613(1991) [PubMed] [Europe PMC] [Abstract]
- "Mutation in a gene for type I procollagen (COL1A2) in a woman with postmenopausal osteoporosis: evidence for phenotypic and genotypic overlap with mild osteogenesis imperfecta."Proc. Natl. Acad. Sci. U.S.A. 88:5423-5427(1991) [PubMed] [Europe PMC] [Abstract]
- "Lethal perinatal osteogenesis imperfecta due to a type I collagen alpha 2(I) Gly to Arg substitution detected by chemical cleavage of an mRNA:cDNA sequence mismatch."Hum. Mutat. 1:55-62(1992) [PubMed] [Europe PMC] [Abstract]
- "Incorporation of type I collagen molecules that contain a mutant alpha 2(I) chain (Gly580-->Asp) into bone matrix in a lethal case of osteogenesis imperfecta."J. Biol. Chem. 267:23108-23112(1992) [PubMed] [Europe PMC] [Abstract]
- "Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta."Am. J. Med. Genet. 45:228-232(1993) [PubMed] [Europe PMC] [Abstract]
- "Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta."Am. J. Med. Genet. 45:233-240(1993) [PubMed] [Europe PMC] [Abstract]
- "A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III."Hum. Genet. 90:621-628(1993) [PubMed] [Europe PMC] [Abstract]
- "Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta."Hum. Mol. Genet. 2:1319-1321(1993) [PubMed] [Europe PMC] [Abstract]
- "A novel glycine to glutamic acid substitution at position 343 in the alpha 2 chain of type I collagen in an individual with lethal osteogenesis imperfecta."Hum. Mol. Genet. 2:2175-2177(1993) [PubMed] [Europe PMC] [Abstract]
- "Serine for glycine substitutions in type I collagen in two cases of type IV osteogenesis imperfecta (OI). Additional evidence for a regional model of OI pathophysiology."J. Biol. Chem. 268:2667-2673(1993) [PubMed] [Europe PMC] [Abstract]
- "Two additional cases of osteogenesis imperfecta with substitutions for glycine in the alpha 2(I) collagen chain. A regional model relating mutation location with phenotype."J. Biol. Chem. 268:25162-25167(1993) [PubMed] [Europe PMC] [Abstract]
- "Osteogenesis imperfecta: comparison of molecular defects with bone histological changes."Bone 15:321-328(1994) [PubMed] [Europe PMC] [Abstract]
- "Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen."Hum. Genet. 94:497-503(1994) [PubMed] [Europe PMC] [Abstract]
- "A Gly859Ser substitution in the triple helical domain of the alpha 2 chain of type I collagen resulting in osteogenesis imperfecta type III in two unrelated individuals."Hum. Mutat. 3:391-394(1994) [PubMed] [Europe PMC] [Abstract]
- "Substitution of an aspartic acid for glycine 700 in the alpha 2(I) chain of type I collagen in a recurrent lethal type II osteogenesis imperfecta dramatically affects the mineralization of bone."J. Biol. Chem. 269:14751-14758(1994) [PubMed] [Europe PMC] [Abstract]
- "Determination of a new collagen type I alpha 2 gene point mutation which causes a Gly640 Cys substitution in osteogenesis imperfecta and prenatal diagnosis by DNA hybridisation."J. Med. Genet. 31:965-968(1994) [PubMed] [Europe PMC] [Abstract]
- "Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation."Eur. J. Pediatr. 154:123-129(1995) [PubMed] [Europe PMC] [Abstract]
- "A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III."Hum. Genet. 95:215-218(1995) [PubMed] [Europe PMC] [Abstract]
- "A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III."Hum. Mutat. 5:175-178(1995) [PubMed] [Europe PMC] [Abstract]
- "Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism."Eur. J. Hum. Genet. 4:39-45(1996) [PubMed] [Europe PMC] [Abstract]
- "Direct sequencing of PCR products derived from cDNAs for the pro alpha 1 and pro alpha 2 chains of type I procollagen as a screening method to detect mutations in patients with osteogenesis imperfecta."Hum. Mutat. 7:89-99(1996) [PubMed] [Europe PMC] [Abstract]
- "Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein folding."Hum. Mutat. 7:318-326(1996) [PubMed] [Europe PMC] [Abstract]
- "Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes."Hum. Mutat. 12:71-72(1998) [PubMed] [Europe PMC] [Abstract]
- "Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III."Hum. Mutat. 13:503-503(1999) [PubMed] [Europe PMC] [Abstract]
- "PLAG1 fusion oncogenes in lipoblastoma."Cancer Res. 60:4869-4872(2000) [PubMed] [Europe PMC] [Abstract]
- "Rare autosomal recessive cardiac valvular form of Ehlers-Danlos syndrome results from mutations in the COL1A2 gene that activate the nonsense-mediated RNA decay pathway."Am. J. Hum. Genet. 74:917-930(2004) [PubMed] [Europe PMC] [Abstract]
- "Total absence of the alpha2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems."J. Med. Genet. 43:E36-E36(2006) [PubMed] [Europe PMC] [Abstract]
- "Osteogenesis imperfecta: clinical, biochemical and molecular findings."Clin. Genet. 70:131-139(2006) [PubMed] [Europe PMC] [Abstract]
- "Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta."Hum. Mutat. 27:599-599(2006) [PubMed] [Europe PMC] [Abstract]
- "Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV."Hum. Mutat. 27:716-716(2006) [PubMed] [Europe PMC] [Abstract]
- "Natural variation in four human collagen genes across an ethnically diverse population."Genomics 91:307-314(2008) [PubMed] [Europe PMC] [Abstract]
- "Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships."Hum. Mol. Genet. 18:463-471(2009) [PubMed] [Europe PMC] [Abstract]
- "COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta."Hum. Mutat. 32:598-609(2011) [PubMed] [Europe PMC] [Abstract]
- "WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta." N. Engl. J. Med. 368:1809-1816(2013) [PubMed] [Europe PMC] [Abstract]