Details for: COL1A2

Gene ID: 1278

Symbol: COL1A2

Ensembl ID: ENSG00000164692

Description: collagen type I alpha 2 chain

Associated with

Cells (max top 100)

(Marker Scores and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: endocardial cell (CL0002350)
    Fold Change: 8.42
    Marker Score: 4,759
  • Cell Name: mesodermal cell (CL0000222)
    Fold Change: 4.34
    Marker Score: 57,234
  • Cell Name: cell of skeletal muscle (CL0000188)
    Fold Change: 4.17
    Marker Score: 3,174
  • Cell Name: bronchus fibroblast of lung (CL2000093)
    Fold Change: 4.06
    Marker Score: 5,575
  • Cell Name: mesenchymal stem cell (CL0000134)
    Fold Change: 3.87
    Marker Score: 5,962
  • Cell Name: alveolar type 2 fibroblast cell (CL4028006)
    Fold Change: 3.82
    Marker Score: 2,124
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: 3.79
    Marker Score: 24,635
  • Cell Name: fibroblast of lung (CL0002553)
    Fold Change: 3.63
    Marker Score: 9,516
  • Cell Name: theca cell (CL0000503)
    Fold Change: 3.63
    Marker Score: 2,604
  • Cell Name: skin fibroblast (CL0002620)
    Fold Change: 3.6
    Marker Score: 933
  • Cell Name: skeletal muscle satellite cell (CL0000594)
    Fold Change: 3.54
    Marker Score: 2,365
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: 3.3
    Marker Score: 19,545
  • Cell Name: inflammatory cell (CL0009002)
    Fold Change: 3.12
    Marker Score: 1,342
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 3.1
    Marker Score: 34,865
  • Cell Name: fibroblast of connective tissue of nonglandular part of prostate (CL1000304)
    Fold Change: 2.96
    Marker Score: 2,527
  • Cell Name: smooth muscle cell of large intestine (CL1000279)
    Fold Change: 2.93
    Marker Score: 1,107
  • Cell Name: glandular epithelial cell (CL0000150)
    Fold Change: 2.88
    Marker Score: 7,085
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: 2.72
    Marker Score: 5,229
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 2.71
    Marker Score: 92,105
  • Cell Name: vascular leptomeningeal cell (CL4023051)
    Fold Change: 2.67
    Marker Score: 3,072
  • Cell Name: stromal cell of lamina propria of small intestine (CL0009022)
    Fold Change: 2.65
    Marker Score: 597
  • Cell Name: double negative thymocyte (CL0002489)
    Fold Change: 2.65
    Marker Score: 3,662
  • Cell Name: mesothelial cell of epicardium (CL0011019)
    Fold Change: 2.58
    Marker Score: 828
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: 2.58
    Marker Score: 1,501
  • Cell Name: fibroblast (CL0000057)
    Fold Change: 2.56
    Marker Score: 2,474
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 2.51
    Marker Score: 10,817
  • Cell Name: Unknown (CL0002371)
    Fold Change: 2.48
    Marker Score: 2,636
  • Cell Name: preosteoblast (CL0007010)
    Fold Change: 2.41
    Marker Score: 683
  • Cell Name: uterine smooth muscle cell (CL0002601)
    Fold Change: 2.36
    Marker Score: 3,070
  • Cell Name: myeloid leukocyte (CL0000766)
    Fold Change: 2.35
    Marker Score: 2,835
  • Cell Name: keratocyte (CL0002363)
    Fold Change: 2.27
    Marker Score: 523
  • Cell Name: Leydig cell (CL0000178)
    Fold Change: 2.2
    Marker Score: 2,368
  • Cell Name: cardiac neuron (CL0010022)
    Fold Change: 2.13
    Marker Score: 2,653
  • Cell Name: enteric smooth muscle cell (CL0002504)
    Fold Change: 2.13
    Marker Score: 5,005
  • Cell Name: fibroblast of connective tissue of glandular part of prostate (CL1000305)
    Fold Change: 2.1
    Marker Score: 875
  • Cell Name: myofibroblast cell (CL0000186)
    Fold Change: 2.09
    Marker Score: 2,585
  • Cell Name: supporting cell (CL0000630)
    Fold Change: 2.08
    Marker Score: 3,914
  • Cell Name: contractile cell (CL0000183)
    Fold Change: 2.08
    Marker Score: 1,127
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.06
    Marker Score: 1,020
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 2.03
    Marker Score: 1,335
  • Cell Name: pancreatic stellate cell (CL0002410)
    Fold Change: 2.02
    Marker Score: 1,272
  • Cell Name: muscle cell (CL0000187)
    Fold Change: 1.98
    Marker Score: 560
  • Cell Name: smooth muscle cell (CL0000192)
    Fold Change: 1.91
    Marker Score: 1,258
  • Cell Name: renal interstitial pericyte (CL1001318)
    Fold Change: 1.87
    Marker Score: 1,783
  • Cell Name: interstitial cell of Cajal (CL0002088)
    Fold Change: 1.83
    Marker Score: 634
  • Cell Name: adipose microvascular endothelial cell (CL2000072)
    Fold Change: 1.78
    Marker Score: 528
  • Cell Name: adventitial cell (CL0002503)
    Fold Change: 1.66
    Marker Score: 409
  • Cell Name: epicardial adipocyte (CL1000309)
    Fold Change: 1.62
    Marker Score: 787
  • Cell Name: pericyte (CL0000669)
    Fold Change: 1.59
    Marker Score: 928
  • Cell Name: mesenchymal lymphangioblast (CL0005021)
    Fold Change: 1.58
    Marker Score: 353
  • Cell Name: hematopoietic cell (CL0000988)
    Fold Change: 1.55
    Marker Score: 1,028
  • Cell Name: kidney interstitial cell (CL1000500)
    Fold Change: 1.52
    Marker Score: 1,081
  • Cell Name: fibroblast of breast (CL4006000)
    Fold Change: 1.48
    Marker Score: 846
  • Cell Name: mural cell (CL0008034)
    Fold Change: 1.47
    Marker Score: 168,576
  • Cell Name: stem cell of epidermis (CL1000428)
    Fold Change: 1.46
    Marker Score: 495
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: 1.46
    Marker Score: 802
  • Cell Name: hepatic stellate cell (CL0000632)
    Fold Change: 1.38
    Marker Score: 519
  • Cell Name: photoreceptor cell (CL0000210)
    Fold Change: 1.37
    Marker Score: 1,028
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 1.3
    Marker Score: 13,090
  • Cell Name: cortical thymic epithelial cell (CL0002364)
    Fold Change: 1.29
    Marker Score: 4,774
  • Cell Name: eukaryotic cell (CL0000255)
    Fold Change: 1.27
    Marker Score: 654
  • Cell Name: fibroblast of connective tissue of prostate (CL1000299)
    Fold Change: 1.27
    Marker Score: 315
  • Cell Name: prostate stromal cell (CL0002622)
    Fold Change: 1.25
    Marker Score: 315
  • Cell Name: tracheobronchial smooth muscle cell (CL0019019)
    Fold Change: 1.2
    Marker Score: 352
  • Cell Name: smooth muscle cell of prostate (CL1000487)
    Fold Change: 1.19
    Marker Score: 303
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 1.19
    Marker Score: 4,981
  • Cell Name: mesothelial cell (CL0000077)
    Fold Change: 1.18
    Marker Score: 475
  • Cell Name: cardiac mesenchymal cell (CL0000569)
    Fold Change: 1.17
    Marker Score: 287
  • Cell Name: peripheral nervous system neuron (CL2000032)
    Fold Change: 1.13
    Marker Score: 1,265
  • Cell Name: blood vessel smooth muscle cell (CL0019018)
    Fold Change: 1.12
    Marker Score: 294
  • Cell Name: ovarian surface epithelial cell (CL2000064)
    Fold Change: 1.06
    Marker Score: 2,879
  • Cell Name: nephron tubule epithelial cell (CL1000494)
    Fold Change: 1.05
    Marker Score: 247
  • Cell Name: epithelial cell of lower respiratory tract (CL0002632)
    Fold Change: 1.05
    Marker Score: 4,383
  • Cell Name: meningeal macrophage (CL0000879)
    Fold Change: 1.03
    Marker Score: 289
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.01
    Marker Score: 6,078
  • Cell Name: cerebral cortex GABAergic interneuron (CL0010011)
    Fold Change: 1
    Marker Score: 71,771
  • Cell Name: forebrain radial glial cell (CL0013000)
    Fold Change: 1
    Marker Score: 47,996
  • Cell Name: glial cell (CL0000125)
    Fold Change: 0.99
    Marker Score: 1,087
  • Cell Name: neural crest cell (CL0011012)
    Fold Change: 0.98
    Marker Score: 1,052
  • Cell Name: absorptive cell (CL0000212)
    Fold Change: 0.98
    Marker Score: 30,404
  • Cell Name: osteoclast (CL0000092)
    Fold Change: 0.96
    Marker Score: 477
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.95
    Marker Score: 2,412
  • Cell Name: syncytiotrophoblast cell (CL0000525)
    Fold Change: 0.94
    Marker Score: 776
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.93
    Marker Score: 272
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: 0.91
    Marker Score: 2,730
  • Cell Name: muscle precursor cell (CL0000680)
    Fold Change: 0.91
    Marker Score: 235
  • Cell Name: immature innate lymphoid cell (CL0001082)
    Fold Change: 0.9
    Marker Score: 1,840
  • Cell Name: germ cell (CL0000586)
    Fold Change: 0.9
    Marker Score: 1,577
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 0.9
    Marker Score: 598
  • Cell Name: skeletal muscle satellite stem cell (CL0008011)
    Fold Change: 0.89
    Marker Score: 951
  • Cell Name: transit amplifying cell (CL0009010)
    Fold Change: 0.88
    Marker Score: 5,012
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.87
    Marker Score: 5,269
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: 0.86
    Marker Score: 851
  • Cell Name: smooth muscle cell of small intestine (CL1000275)
    Fold Change: 0.86
    Marker Score: 224
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.82
    Marker Score: 13,175
  • Cell Name: chondrocyte (CL0000138)
    Fold Change: 0.81
    Marker Score: 365
  • Cell Name: connective tissue cell (CL0002320)
    Fold Change: 0.8
    Marker Score: 207
  • Cell Name: reticular cell (CL0000432)
    Fold Change: 0.79
    Marker Score: 288
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.79
    Marker Score: 1,337
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: 0.79
    Marker Score: 831

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Marker Score to the Marker Score Threshold, indicating how much the gene expression has changed compared to a baseline.
Marker Score: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** COL1A2 is a member of the collagen family, which is composed of three polypeptide chains (α1, α2, and α3) that form a triple helix structure. The COL1A2 gene encodes for the α2 chain, which is essential for the formation of type I collagen, the most abundant collagen in the human body. COL1A2 is highly expressed in various tissues, including bone, skin, and muscle, and is involved in numerous cellular processes, including cell adhesion, migration, and differentiation. **Pathways and Functions:** COL1A2 is involved in various signaling pathways, including: 1. **Adaptive Immune System:** COL1A2 is expressed on the surface of immune cells, such as T cells and dendritic cells, and plays a role in the regulation of immune responses. 2. **Anchoring Fibril Formation:** COL1A2 is involved in the formation of anchoring fibrils, which are essential for the stability of blood vessels. 3. **Assembly of Collagen Fibrils:** COL1A2 is necessary for the assembly of collagen fibrils, which provide structural integrity to tissues such as skin and bone. 4. **Cell Surface Interactions:** COL1A2 interacts with various cell surface receptors, including integrins and scavenger receptors, to regulate cell adhesion and migration. 5. **Cytokine Signaling:** COL1A2 is involved in the regulation of cytokine signaling, which is essential for the immune response. **Clinical Significance:** COL1A2 is involved in various diseases, including: 1. **Osteogenesis Imperfecta (OI):** A genetic disorder characterized by fragile bones and skeletal deformities. 2. **Von Willebrand Disease (VWD):** A bleeding disorder caused by defective platelet adhesion to exposed collagen. 3. **Arthritis:** COL1A2 is involved in the regulation of joint inflammation and cartilage degradation. 4. **Cardiovascular Disease:** COL1A2 is involved in the regulation of blood vessel development and stability. In conclusion, COL1A2 is a crucial gene that plays a vital role in various physiological processes, including immune responses, cell adhesion, and tissue development. Its dysregulation can lead to various diseases, highlighting the importance of further research into the molecular mechanisms underlying COL1A2 function.

Genular Protein ID: 1777650509

Symbol: CO1A2_HUMAN

Name: Collagen alpha-2(I) chain

UniProtKB Accession Codes:

P08123 P02464 Q13897 Q13997 Q13998 Q14038 Q14057 Q15177 Q15947 Q16480 Q16511 Q7Z5S6 Q9UEB6 Q9UEF9 Q9UM83 Q9UMI1 Q9UML5 Q9UMM6 Q9UPH0

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 EMBL 24 EPD 1 Ensembl 1 ExpressionAtlas 1 GO 28 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 Genevisible 1 GenomeRNAi 1 GlyConnect 1 GlyCosmos 1 GlyGen 1 HGNC 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 15 MINT 1 MalaCards 1 MassIVE 1 MaxQB 1 MetOSite 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 8 OrthoDB 1 PANTHER 2 PDB 4 PDBsum 4 PIR 1 PRO 1 PROSITE 1 PROSITE-ProRule 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 21 RefSeq 1 SAM 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SignaLink 1 TreeFam 1 UCSC 1 UniProtKB 2 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 2824475

Title: Organization of the human pro-alpha 2(I) collagen gene.

PubMed ID: 2824475

DOI: 10.1016/s0021-9258(18)47691-0

PubMed ID: 9016532

Title: The human type I collagen mutation database.

PubMed ID: 9016532

DOI: 10.1093/nar/25.1.181

PubMed ID: 9443882

Title: 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.

PubMed ID: 9443882

DOI: 10.1086/301689

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 3421913

Title: 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.

PubMed ID: 3421913

DOI: 10.1042/bj2520633

PubMed ID: 4011429

Title: Analysis of the promoter region and the N-propeptide domain of the human pro alpha 2(I) collagen gene.

PubMed ID: 4011429

DOI: 10.1093/nar/13.10.3427

PubMed ID: 3680255

Title: Ehlers-Danlos syndrome type VIIB. Deletion of 18 amino acids comprising the N-telopeptide region of a pro-alpha 2(I) chain.

PubMed ID: 3680255

DOI: 10.1016/s0021-9258(18)49266-6

PubMed ID: 2394758

Title: Structural and functional characterization of a splicing mutation in the pro-alpha 2(I) collagen gene of an Ehlers-Danlos type VII patient.

PubMed ID: 2394758

DOI: 10.1016/s0021-9258(18)55498-3

PubMed ID: 1577745

Title: 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.

PubMed ID: 1577745

DOI: 10.1016/s0021-9258(19)50393-3

PubMed ID: 5529814

Title: Isolation and characterization of the cyanogen bromide peptides from the alpha 1 and alpha 2 chains of human skin collagen.

PubMed ID: 5529814

DOI: 10.1021/bi00826a012

PubMed ID: 3403536

Title: 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.

PubMed ID: 3403536

DOI: 10.1016/s0021-9258(18)37971-7

PubMed ID: 1642148

Title: Expression of mutant alpha (I)-procollagen in osteoblast and fibroblast cultures from a proband with osteogenesis imperfecta type IV.

PubMed ID: 1642148

DOI: 10.1002/jbmr.5650070709

PubMed ID: 4319110

Title: A comparative study of glycopeptides derived from selected vertebrate collagens. A possible role of the carbohydrate in fibril formation.

PubMed ID: 4319110

DOI: 10.1016/s0021-9258(18)62815-7

PubMed ID: 4412529

Title: Comparative sequence studies on alpha2-CB2 from calf, human, rabbit and pig-skin collagen.

PubMed ID: 4412529

DOI: 10.1111/j.1432-1033.1974.tb03689.x

PubMed ID: 2839839

Title: 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.

PubMed ID: 2839839

DOI: 10.1073/pnas.85.14.5254

PubMed ID: 6321602

Title: Isolation and characterization of a human pro alpha 2(I) collagen gene segment.

PubMed ID: 6321602

DOI: 10.1111/1523-1747.ep12260213

PubMed ID: 6687691

Title: 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.

PubMed ID: 6687691

DOI: 10.1021/bi00274a023

PubMed ID: 1339453

Title: 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.

PubMed ID: 1339453

DOI: 10.1016/s0021-9258(18)42578-1

PubMed ID: 7881420

Title: Severe (type III) osteogenesis imperfecta due to glycine substitutions in the central domain of the collagen triple helix.

PubMed ID: 7881420

DOI: 10.1093/hmg/3.12.2201

PubMed ID: 2364107

Title: Growth-dependent modulation of type I collagen production and mRNA levels in cultured human skin fibroblasts.

PubMed ID: 2364107

DOI: 10.1016/0167-4781(90)90037-3

PubMed ID: 6267597

Title: Cloning a cDNA for the pro-alpha 2 chain of human type I collagen.

PubMed ID: 6267597

DOI: 10.1073/pnas.78.6.3516

PubMed ID: 2897363

Title: 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.

PubMed ID: 2897363

DOI: 10.1016/s0021-9258(18)68560-6

PubMed ID: 6309769

Title: Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts.

PubMed ID: 6309769

DOI: 10.1016/s0021-9258(17)44615-1

PubMed ID: 6092353

Title: Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

PubMed ID: 6092353

DOI: 10.1016/s0021-9258(18)90635-6

PubMed ID: 2010058

Title: Mutations in collagen genes: causes of rare and some common diseases in humans.

PubMed ID: 2010058

DOI: 10.1096/fasebj.5.7.2010058

PubMed ID: 9101290

Title: 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.

PubMed ID: 9101290

DOI: 10.1002/(sici)1098-1004(1997)9:4<300::aid-humu2>3.0.co;2-9

PubMed ID: 1895312

Title: Osteogenesis imperfecta: translation of mutation to phenotype.

PubMed ID: 1895312

DOI: 10.1136/jmg.28.7.433

PubMed ID: 22905912

Title: Resveratrol-induced changes of the human adipocyte secretion profile.

PubMed ID: 22905912

DOI: 10.1021/pr300539b

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 2914942

Title: 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.

PubMed ID: 2914942

DOI: 10.1016/s0021-9258(19)81713-1

PubMed ID: 2777764

Title: Characterization of point mutations in the collagen COL1A1 and COL1A2 genes causing lethal perinatal osteogenesis imperfecta.

PubMed ID: 2777764

DOI: 10.1016/s0021-9258(18)71548-2

PubMed ID: 1696002

Title: Detection of point mutations in type I collagen by RNase digestion of RNA/RNA hybrids.

PubMed ID: 1696002

DOI: 10.1093/nar/18.14.4227

PubMed ID: 2064612

Title: 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.

PubMed ID: 2064612

DOI: 10.1042/bj2760765

PubMed ID: 1990009

Title: 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.

PubMed ID: 1990009

DOI: 10.1016/s0021-9258(18)52286-9

PubMed ID: 1874719

Title: 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.

PubMed ID: 1874719

DOI: 10.1016/s0021-9258(18)98449-8

PubMed ID: 2052622

Title: 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.

PubMed ID: 2052622

DOI: 10.1073/pnas.88.12.5423

PubMed ID: 1301191

Title: Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the disease.

PubMed ID: 1301191

DOI: 10.1002/humu.1380010108

PubMed ID: 1284475

Title: 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.

PubMed ID: 1284475

DOI: 10.1002/humu.1380010109

PubMed ID: 1385413

Title: 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.

PubMed ID: 1385413

DOI: 10.1016/s0021-9258(18)50063-6

PubMed ID: 8456807

Title: Mutations in the COL1A2 gene of type I collagen that result in nonlethal forms of osteogenesis imperfecta.

PubMed ID: 8456807

DOI: 10.1002/ajmg.1320450215

PubMed ID: 8456808

Title: Chemical cleavage method for the detection of RNA base changes: experience in the application to collagen mutations in osteogenesis imperfecta.

PubMed ID: 8456808

DOI: 10.1002/ajmg.1320450216

PubMed ID: 8444468

Title: A single amino acid deletion in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

PubMed ID: 8444468

DOI: 10.1007/bf00202479

PubMed ID: 8401517

Title: Identification of type I collagen gene (COL1A2) mutations in nonlethal osteogenesis imperfecta.

PubMed ID: 8401517

DOI: 10.1093/hmg/2.8.1319

PubMed ID: 7906591

Title: 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.

PubMed ID: 7906591

DOI: 10.1093/hmg/2.12.2175

PubMed ID: 8094076

Title: 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.

PubMed ID: 8094076

DOI: 10.1016/s0021-9258(18)53826-6

PubMed ID: 7693712

Title: 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.

PubMed ID: 7693712

DOI: 10.1016/s0021-9258(19)74583-9

PubMed ID: 7520724

Title: Osteogenesis imperfecta: comparison of molecular defects with bone histological changes.

PubMed ID: 7520724

DOI: 10.1016/8756-3282(94)90295-x

PubMed ID: 7959683

Title: Three unrelated individuals with perinatally lethal osteogenesis imperfecta resulting from identical Gly502Ser substitutions in the alpha 2-chain of type I collagen.

PubMed ID: 7959683

DOI: 10.1007/bf00211014

PubMed ID: 8081394

Title: 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.

PubMed ID: 8081394

DOI: 10.1002/humu.1380030411

PubMed ID: 8182080

Title: 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.

PubMed ID: 8182080

DOI: 10.1016/s0021-9258(17)36689-9

PubMed ID: 7891382

Title: 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.

PubMed ID: 7891382

DOI: 10.1136/jmg.31.12.965

PubMed ID: 7720740

Title: Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation.

PubMed ID: 7720740

DOI: 10.1007/bf01991915

PubMed ID: 7860070

Title: A Gly238Ser substitution in the alpha 2 chain of type I collagen results in osteogenesis imperfecta type III.

PubMed ID: 7860070

DOI: 10.1007/bf00209405

PubMed ID: 7749416

Title: A novel G1006A substitution in the alpha 2(I) chain of type I collagen produces osteogenesis imperfecta type III.

PubMed ID: 7749416

DOI: 10.1002/humu.1380050212

PubMed ID: 8800927

Title: Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicism.

PubMed ID: 8800927

DOI: 10.1159/000472168

PubMed ID: 8829649

Title: 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.

PubMed ID: 8829649

DOI: 10.1002/(sici)1098-1004(1996)7:2<89::aid-humu1>3.0.co;2-k

PubMed ID: 8723681

Title: 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.

PubMed ID: 8723681

DOI: 10.1002/(sici)1098-1004(1996)7:4<318::aid-humu5>3.0.co;2-4

PubMed ID: 10627137

Title: Four new cases of lethal osteogenesis imperfecta due to glycine substitutions in COL1A1 and genes.

PubMed ID: 10627137

PubMed ID: 9923651

Title: An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta.

PubMed ID: 9923651

DOI: 10.1016/s0945-053x(98)90109-3

PubMed ID: 10408781

Title: Osteogenesis imperfecta: mosaicism and refinement of the genotype-phenotype map in OI type III.

PubMed ID: 10408781

DOI: 10.1002/(sici)1098-1004(1999)13:6<503::aid-humu12>3.0.co;2-i

PubMed ID: 10987300

Title: PLAG1 fusion oncogenes in lipoblastoma.

PubMed ID: 10987300

PubMed ID: 15077201

Title: 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.

PubMed ID: 15077201

DOI: 10.1086/420794

PubMed ID: 16816023

Title: 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.

PubMed ID: 16816023

DOI: 10.1136/jmg.2005.038224

PubMed ID: 16879195

Title: Osteogenesis imperfecta: clinical, biochemical and molecular findings.

PubMed ID: 16879195

DOI: 10.1111/j.1399-0004.2006.00646.x

PubMed ID: 16705691

Title: Mutational spectrum of type I collagen genes in Korean patients with osteogenesis imperfecta.

PubMed ID: 16705691

DOI: 10.1002/humu.9423

PubMed ID: 16786509

Title: Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV.

PubMed ID: 16786509

DOI: 10.1002/humu.9430

PubMed ID: 17078022

Title: Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

PubMed ID: 17078022

DOI: 10.1002/humu.20429

PubMed ID: 18272325

Title: Natural variation in four human collagen genes across an ethnically diverse population.

PubMed ID: 18272325

DOI: 10.1016/j.ygeno.2007.12.008

PubMed ID: 18996919

Title: Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

PubMed ID: 18996919

DOI: 10.1093/hmg/ddn374

PubMed ID: 21239989

Title: Recurrence of perinatal lethal osteogenesis imperfecta in sibships: parsing the risk between parental mosaicism for dominant mutations and autosomal recessive inheritance.

PubMed ID: 21239989

DOI: 10.1097/gim.0b013e318202e0f6

PubMed ID: 21344539

Title: COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.

PubMed ID: 21344539

DOI: 10.1002/humu.21475

PubMed ID: 23656646

Title: WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.

PubMed ID: 23656646

DOI: 10.1056/nejmoa1215458

PubMed ID: 23692737

Title: Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome.

PubMed ID: 23692737

DOI: 10.1186/1750-1172-8-78

PubMed ID: 27509835

Title: DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum.

PubMed ID: 27509835

DOI: 10.1007/s00198-016-3709-1

Sequence Information:

  • Length: 1366
  • Mass: 129314
  • Checksum: 1E68A5970FB4210A
  • Sequence:
    • MLSFVDTRTL LLLAVTLCLA TCQSLQEETV RKGPAGDRGP RGERGPPGPP GRDGEDGPTG 
PPGPPGPPGP PGLGGNFAAQ YDGKGVGLGP GPMGLMGPRG PPGAAGAPGP QGFQGPAGEP 
GEPGQTGPAG ARGPAGPPGK AGEDGHPGKP GRPGERGVVG PQGARGFPGT PGLPGFKGIR 
GHNGLDGLKG QPGAPGVKGE PGAPGENGTP GQTGARGLPG ERGRVGAPGP AGARGSDGSV 
GPVGPAGPIG SAGPPGFPGA PGPKGEIGAV GNAGPAGPAG PRGEVGLPGL SGPVGPPGNP 
GANGLTGAKG AAGLPGVAGA PGLPGPRGIP GPVGAAGATG ARGLVGEPGP AGSKGESGNK 
GEPGSAGPQG PPGPSGEEGK RGPNGEAGSA GPPGPPGLRG SPGSRGLPGA DGRAGVMGPP 
GSRGASGPAG VRGPNGDAGR PGEPGLMGPR GLPGSPGNIG PAGKEGPVGL PGIDGRPGPI 
GPAGARGEPG NIGFPGPKGP TGDPGKNGDK GHAGLAGARG APGPDGNNGA QGPPGPQGVQ 
GGKGEQGPPG PPGFQGLPGP SGPAGEVGKP GERGLHGEFG LPGPAGPRGE RGPPGESGAA 
GPTGPIGSRG PSGPPGPDGN KGEPGVVGAV GTAGPSGPSG LPGERGAAGI PGGKGEKGEP 
GLRGEIGNPG RDGARGAPGA VGAPGPAGAT GDRGEAGAAG PAGPAGPRGS PGERGEVGPA 
GPNGFAGPAG AAGQPGAKGE RGAKGPKGEN GVVGPTGPVG AAGPAGPNGP PGPAGSRGDG 
GPPGMTGFPG AAGRTGPPGP SGISGPPGPP GPAGKEGLRG PRGDQGPVGR TGEVGAVGPP 
GFAGEKGPSG EAGTAGPPGT PGPQGLLGAP GILGLPGSRG ERGLPGVAGA VGEPGPLGIA 
GPPGARGPPG AVGSPGVNGA PGEAGRDGNP GNDGPPGRDG QPGHKGERGY PGNIGPVGAA 
GAPGPHGPVG PAGKHGNRGE TGPSGPVGPA GAVGPRGPSG PQGIRGDKGE PGEKGPRGLP 
GLKGHNGLQG LPGIAGHHGD QGAPGSVGPA GPRGPAGPSG PAGKDGRTGH PGTVGPAGIR 
GPQGHQGPAG PPGPPGPPGP PGVSGGGYDF GYDGDFYRAD QPRSAPSLRP KDYEVDATLK 
SLNNQIETLL TPEGSRKNPA RTCRDLRLSH PEWSSGYYWI DPNQGCTMDA IKVYCDFSTG 
ETCIRAQPEN IPAKNWYRSS KDKKHVWLGE TINAGSQFEY NVEGVTSKEM ATQLAFMRLL 
ANYASQNITY HCKNSIAYMD EETGNLKKAV ILQGSNDVEL VAEGNSRFTY TVLVDGCSKK 
TNEWGKTIIE YKTNKPSRLP FLDIAPLDIG GADQEFFVDI GPVCFK

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.