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    COL1A2 collagen, type I, alpha 2 [ Homo sapiens ]

    Gene ID: 1278, updated on 20-May-2012
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    Summary

    Official Symbol
    COL1A2provided by HGNC
    Official Full Name
    collagen, type I, alpha 2provided by HGNC
    Primary source
    HGNC:2198
    See related
    Ensembl:ENSG00000164692; HPRD:00363; MIM:120160; Vega:OTTHUMG00000148675
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    OI4
    Summary
    This gene encodes the pro-alpha2 chain of type I collagen whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in most connective tissues and is abundant in bone, cornea, dermis and tendon. Mutations in this gene are associated with osteogenesis imperfecta types I-IV, Ehlers-Danlos syndrome type VIIB, recessive Ehlers-Danlos syndrome Classical type, idiopathic osteoporosis, and atypical Marfan syndrome. Symptoms associated with mutations in this gene, however, tend to be less severe than mutations in the gene for the alpha1 chain of type I collagen (COL1A1) reflecting the different role of alpha2 chains in matrix integrity. Three transcripts, resulting from the use of alternate polyadenylation signals, have been identified for this gene. [provided by R. Dalgleish, Feb 2008]
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    Genomic context

    Location :
    7q22.1
    Sequence :
    Chromosome: 7; NC_000007.13 (94023873..94060544)
    See COL1A2 in Epigenomics, MapViewer

    Chromosome 7 - NC_000007.13Genomic Context describing neighboring genes Neighboring gene guanine nucleotide binding protein (G protein), gamma 11 Neighboring gene blocked early in transport 1 homolog (S. cerevisiae) Neighboring gene uncharacterized LOC100506027 Neighboring gene CAS1 domain containing 1 Neighboring gene sarcoglycan, epsilon

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    Genomic regions, transcripts, and products

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details
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    Bibliography

    Related articles in PubMed

    1. Feedback regulation of the α2(1) collagen gene via the Mek-Erk signaling pathway. Dzobo K, et al. IUBMB Life, 2012 Jan. PMID 22131293.
    2. Myocardin-related transcription factor-A complexes activate type I collagen expression in lung fibroblasts. Luchsinger LL, et al. J Biol Chem, 2011 Dec 23. PMID 22049076.
    3. Cross-platform array screening identifies COL1A2, THBS1, TNFRSF10D and UCHL1 as genes frequently silenced by methylation in melanoma. Bonazzi VF, et al. PLoS One, 2011. PMID 22028813.
    4. A novel role of vimentin filaments: binding and stabilization of collagen mRNAs. Challa AA, et al. Mol Cell Biol, 2011 Sep. PMID 21746880.
    5. The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta. Zhang ZL, et al. J Bone Miner Metab, 2012 Jan. PMID 21667357.

    See all (230) citations in PubMed

    GeneRIFs: Gene References Into Functions What's a GeneRIF?

    1. Mutation analyses were performed for COL1A1, COL1A2, CRTAP, and LEPRE1 in a cohort of 58 unrelated Chinese patients with osteogenesis imperfecta.
      Title: The identification of novel mutations in COL1A1, COL1A2, and LEPRE1 genes in Chinese patients with osteogenesis imperfecta.
    2. Matrix-mediated downregulation of type I alpha 2 collagen occurs zia an Sp1 transcription factor Pathway
      Title: Feedback regulation of the α2(1) collagen gene via the Mek-Erk signaling pathway.
    3. transcript levels of UCHL1, COL1A2, THBS1 and TNFRSF10D were inversely correlated with promoter methylation
      Title: Cross-platform array screening identifies COL1A2, THBS1, TNFRSF10D and UCHL1 as genes frequently silenced by methylation in melanoma.
    4. MRTF-A is an important regulator of collagen synthesis in lung fibroblasts and exhibits a dependence on both SRF and Sp1 function to enhance collagen expression
      Title: Myocardin-related transcription factor-A complexes activate type I collagen expression in lung fibroblasts.
    5. These results show no association between common genetic variations of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women, suggesting the complex genetic background of osteoporotic fractures.
      Title: No association between polymorphisms and haplotypes of COL1A1 and COL1A2 genes and osteoporotic fracture in postmenopausal Chinese women.
    6. study reports that vimentin filaments associate with collagen mRNAs in a 5'stem-loop sequence and LARP6-dependent manner and stabilize collagen mRNAs
      Title: A novel role of vimentin filaments: binding and stabilization of collagen mRNAs.
    7. Type I collagen appears to provide a molecular framework for direct formation of apatite without the necessary intervention or mediation of other molecules in extracellular matrices of vertebrate calcifying tissues.
      Title: Deposition of apatite in mineralizing vertebrate extracellular matrices: A model of possible nucleation sites on type I collagen.
    8. The patient with COL1A2 Ala1119Thr mutation has mild osteogenesis imperfecta.
      Title: COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta.
    9. This study identifies two novel mutations p.G1102A and p.Y1117C that cause osteogenesis imperfecta
      Title: Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta.
    10. Genetic variation within the COL1A2 gene is associated with increased risk of hepatocellular carcinoma in a Chinese population.
      Title: An insertion/deletion polymorphism in the 3' untranslated region of type I collagen a2 (COL1A2) is associated with susceptibility for hepatocellular carcinoma in a Chinese population.
    Submit: New GeneRIF Correction See all (93)
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    Phenotypes

    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Ehlers-Danlos syndrome, cardiac valvular form

    Ehlers-Danlos syndrome, type VIIB

    Framingham Heart Study genome-wide association: results for pulmonary function measures.

    Marfan syndrome, atypical

    Osteogenesis imperfecta, type II

    Osteogenesis imperfecta, type III

    Osteogenesis imperfecta, type IV

    Osteoporosis, postmenopausal

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    HIV-1 protein interactions

    Protein Gene Interaction Pubs
    Tat tat HIV-1 Tat, through its basic domain (amino acids 46-60), inhibits the adhesion of collagen I to the neuroblastoma cell line GI-CA-N, suggesting a role for Tat in the neurologic dysfunction and destruction of the CNS observed in infants infected with HIV-1 PubMed
    tat HIV-1 Tat upregulates the steady-state RNA levels for fibronectin and types I and III collagen in glioblastoma cells and salivary gland cell lines PubMed

    Go to the HIV-1, Human Protein Interaction Database

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    Interactions

    Products Interactant Other Gene Complex Source Pubs Description
    P08123 P05067 APP    HPRD  PubMed  
    P08123 P21810 BGN    HPRD  PubMed  
    P08123 P16671 CD36    HPRD  PubMed  
    P08123 P16070 CD44    HPRD  PubMed  
    P08123 Q9NPY3 CD93    HPRD  PubMed  
    P08123 P25940 COL5A3    HPRD  PubMed  
    P08123 P07585 DCN    HPRD  PubMed  
    P08123 P02751 FN1    HPRD  PubMed  
    P08123 P17301 ITGA2    HPRD  PubMed  
    P08123 P08514 ITGA2B    HPRD  PubMed  
    P08123 P05106 ITGB3    HPRD  PubMed  
    P08123 P51884 LUM    HPRD  PubMed  
    P08123 P14780 MMP9    HPRD  PubMed  
    P08123 Q99972 MYOC    HPRD  PubMed  
    P08123 P07237 P4HB    HPRD  PubMed  
    P08123 P04278 SHBG    HPRD  PubMed  
    P08123 P09486 SPARC    HPRD  PubMed  
    P08123 Q15582 TGFBI    HPRD  PubMed  
    P08123 P04275 VWF    HPRD  PubMed  
    BioGRID:107675 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
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    General gene information

    Markers

    Genotypes

    Homology

    Pathways from BioSystems

    • Amoebiasis, organism-specific biosystem (from KEGG)
      Amoebiasis, organism-specific biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Amoebiasis, conserved biosystem (from KEGG)
      Amoebiasis, conserved biosystemEntamoeba histolytica, an extracellular protozoan parasite is a human pathogen that invades the intestinal epithelium. Infection occurs on ingestion of contaminated water and food. The pathogenesis o...
    • Axon guidance, organism-specific biosystem (from REACTOME)
      Axon guidance, organism-specific biosystemAxon guidance / axon pathfinding is the process by which neurons send out axons to reach the correct targets. Growing axons have a highly motile structure at the growing tip called the growth cone, w...
    • C-MYB transcription factor network, organism-specific biosystem (from Pathway Interaction Database)
      C-MYB transcription factor network, organism-specific biosystem
      C-MYB transcription factor network
    • Cell surface interactions at the vascular wall, organism-specific biosystem (from REACTOME)
      Cell surface interactions at the vascular wall, organism-specific biosystemLeukocyte extravasation is a rigorously controlled process that guides white cell movement from the vascular lumen to sites of tissue inflammation. The powerful adhesive interactions that are require...
    • Developmental Biology, organism-specific biosystem (from REACTOME)
      Developmental Biology, organism-specific biosystemAs a first step towards capturing the array of processes by which a fertilized egg gives rise to the diverse tissues of the body, examples of three kinds of processes have been annotated. These are a...
    • ECM-receptor interaction, organism-specific biosystem (from KEGG)
      ECM-receptor interaction, organism-specific biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • ECM-receptor interaction, conserved biosystem (from KEGG)
      ECM-receptor interaction, conserved biosystemThe extracellular matrix (ECM) consists of a complex mixture of structural and functional macromolecules and serves an important role in tissue and organ morphogenesis and in the maintenance of cell ...
    • Endothelins, organism-specific biosystem (from Pathway Interaction Database)
      Endothelins, organism-specific biosystem
      Endothelins
    • Focal Adhesion, organism-specific biosystem (from WikiPathways)
      Focal Adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, organism-specific biosystem (from KEGG)
      Focal adhesion, organism-specific biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • Focal adhesion, conserved biosystem (from KEGG)
      Focal adhesion, conserved biosystemCell-matrix adhesions play essential roles in important biological processes including cell motility, cell proliferation, cell differentiation, regulation of gene expression and cell survival. At the...
    • GPVI-mediated activation cascade, organism-specific biosystem (from REACTOME)
      GPVI-mediated activation cascade, organism-specific biosystemThe GPVI receptor is a complex of the GPVI protein with Fc epsilon R1 gamma (FcR). The Src family kinases Fyn and Lyn constitutively associate with the GPVI-FcR complex in platelets and initiate plat...
    • Hemostasis, organism-specific biosystem (from REACTOME)
      Hemostasis, organism-specific biosystemHemostasis is a physiological response that culminates in the arrest of bleeding from an injured vessel. Under normal conditions the vascular endothelium supports vasodilation, inhibits platelet adhe...
    • IL4-mediated signaling events, organism-specific biosystem (from Pathway Interaction Database)
      IL4-mediated signaling events, organism-specific biosystem
      IL4-mediated signaling events
    • Inflammatory Response Pathway, organism-specific biosystem (from WikiPathways)
      Inflammatory Response Pathway, organism-specific biosystem
      Inflammatory Response Pathway
    • Integrin cell surface interactions, organism-specific biosystem (from REACTOME)
      Integrin cell surface interactions, organism-specific biosystemThe extracellular matrix (ECM) is a network of macro-molecules that underlies all epithelia and endothelia and that surrounds all connective tissue cells. This matrix provides the mechanical strength...
    • NCAM signaling for neurite out-growth, organism-specific biosystem (from REACTOME)
      NCAM signaling for neurite out-growth, organism-specific biosystemThe neural cell adhesion molecule, NCAM, is a member of the immunoglobulin (Ig) superfamily and is involved in a variety of cellular processes of importance for the formation and maintenance of the n...
    • NCAM1 interactions, organism-specific biosystem (from REACTOME)
      NCAM1 interactions, organism-specific biosystemThe neural cell adhesion molecule, NCAM1 is generally considered as a cell adhesion mediator, but it is also considered to be a signal transducing receptor molecule. NCAM1 is involved in multiple cis...
    • Platelet Adhesion to exposed collagen, organism-specific biosystem (from REACTOME)
      Platelet Adhesion to exposed collagen, organism-specific biosystemInitiation of platelet adhesion is the first step in the formation of the platelet plug. Circulating platelets are arrested and subsequently activated by exposed collagen and vWF. Several collagen bi...
    • Platelet activation, signaling and aggregation, organism-specific biosystem (from REACTOME)
      Platelet activation, signaling and aggregation, organism-specific biosystemPlatelet activation begins with the initial binding of adhesive ligands and of the excitatory platelet agonists (released or generated at the sites of vascular trauma) to cognate receptors on the pla...
    • Protein digestion and absorption, organism-specific biosystem (from KEGG)
      Protein digestion and absorption, organism-specific biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Protein digestion and absorption, conserved biosystem (from KEGG)
      Protein digestion and absorption, conserved biosystemProtein is a dietary component essential for nutritional homeostasis in humans. Normally, ingested protein undergoes a complex series of degradative processes following the action of gastric, pancrea...
    • Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem (from Pathway Interaction Database)
      Regulation of nuclear SMAD2/3 signaling, organism-specific biosystem
      Regulation of nuclear SMAD2/3 signaling
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • Signaling by PDGF, organism-specific biosystem (from REACTOME)
      Signaling by PDGF, organism-specific biosystemPlatelet-derived Growth Factor (PDGF) is a potent stimulator of growth and motility of connective tissue cells such as fibroblasts and smooth muscle cells as well as other cells such as capillary end...
    • VEGFR3 signaling in lymphatic endothelium, organism-specific biosystem (from Pathway Interaction Database)
      VEGFR3 signaling in lymphatic endothelium, organism-specific biosystem
      VEGFR3 signaling in lymphatic endothelium
    • Validated targets of C-MYC transcriptional repression, organism-specific biosystem (from Pathway Interaction Database)
      Validated targets of C-MYC transcriptional repression, organism-specific biosystem
      Validated targets of C-MYC transcriptional repression
    • Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem (from Pathway Interaction Database)
      Validated transcriptional targets of AP1 family members Fra1 and Fra2, organism-specific biosystem
      Validated transcriptional targets of AP1 family members Fra1 and Fra2

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    SMAD binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    extracellular matrix structural constituent NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    identical protein binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    platelet-derived growth factor binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    protein binding, bridging IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    Rho protein signal transduction IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    axon guidance TAS
    Traceable Author Statement
    more info
    		  
    blood coagulation TAS
    Traceable Author Statement
    more info
    		  
    blood vessel development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    cellular response to amino acid stimulus IEA
    Inferred from Electronic Annotation
    more info
    		  
    collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    leukocyte migration TAS
    Traceable Author Statement
    more info
    		  
    odontogenesis NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    platelet activation TAS
    Traceable Author Statement
    more info
    		  
    protein heterotrimerization IEA
    Inferred from Electronic Annotation
    more info
    		  
    regulation of blood pressure IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    skeletal system development IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    skin morphogenesis IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    transforming growth factor beta receptor signaling pathway IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    collagen IEA
    Inferred from Electronic Annotation
    more info
    		  
    collagen type I IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    collagen type I IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    collagen type I TAS
    Traceable Author Statement
    more info
    		 PubMed 
    colocalizes_with extracellular matrix IDA
    Inferred from Direct Assay
    more info
    		  
    extracellular region TAS
    Traceable Author Statement
    more info
    		  
    extracellular space IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
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    General protein information

    Preferred Names
    collagen alpha-2(I) chain
    Names
    collagen alpha-2(I) chain
    type I procollagen
    alpha 2(I)-collagen
    alpha-2 type I collagen
    collagen I, alpha-2 polypeptide
    collagen of skin, tendon and bone, alpha-2 chain
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    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_007405.1 RefSeqGene

      Range
      5001..41672
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_2

    mRNA and Protein(s)

    1. NM_000089.3 → NP_000080.2  collagen alpha-2(I) chain precursor

      Status: REVIEWED

      Source sequence(s)
      AA457209, BC042586, BC054498, CF125721, J03464, Z74616
      Consensus CDS
      CCDS34682.1
      UniProtKB/Swiss-Prot
      P08123
      Related
      ENSP00000297268, OTTHUMP00000192906, ENST00000297268, OTTHUMT00000309045
      Conserved Domains (2) summary
      pfam01391
      Location:164 – 217
      Blast Score: 113
      Collagen; Collagen triple helix repeat (20 copies)
      cl02436
      Location:1132 – 1366
      Blast Score: 1019
      COLFI; Fibrillar collagen C-terminal domain

    RefSeqs of Annotated Genomes: Build 37.3

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh37.p5 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p5 Primary Assembly

      Range
      94023873..94060544
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate HuRef

    Genomic

    1. AC_000139.1 Alternate HuRef

      Range
      88631579..88668235
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CRA_TCAGchr7v2

    Genomic

    1. AC_000068.1 Alternate CRA_TCAGchr7v2

      Range
      93353052..93389700
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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    Related Sequences

    Nucleotide Protein
    Heading Accession and Version
    genomic AB004317.1 BAA25383.1
    genomic AC002074.2 AAS02025.1
    genomic AC002528.1 AAB69977.1
    genomic AF004877.1 AAB93981.1
    genomic CH236949.1 (3437989..3474637) None
    genomic CH471091.2 EAW76794.1
      EAW76795.1
      EAW76796.1
    genomic K01078.1 AAA51887.1
    genomic K02568.1 AAA51850.1
    genomic M21353.1 AAA52053.1
    genomic M21671.1 AAA59994.1
    genomic M22817.1 AAA51846.1
    genomic M28985.1 AAA60356.1
    genomic M35391.1 AAA60041.1
    genomic M64229.1 AAA52050.1
    genomic S98904.1 AAB22126.1
    mRNA AA457209.1 None
    mRNA AK223175.1 None
    mRNA AK226074.1 None
    mRNA AK297786.1 BAG60128.1
    mRNA AK300194.1 BAG61967.1
    mRNA AK309504.1 None
    mRNA AL833478.1 None
    mRNA BC042586.1 AAH42586.1
    mRNA BC054498.1 AAH54498.1
    mRNA CF125721.1 None
    mRNA J00114.1 AAA51996.1
    mRNA J03464.1 AAB59374.1
    mRNA L47668.1 AAB59577.1
    mRNA M22816.1 AAA51844.1
    mRNA S41099.1 AAB22761.1
    mRNA S96821.1 AAB22020.2
    mRNA V00503.1 CAA23761.1
    mRNA X02488.1 CAA26320.1
    mRNA X55525.1 CAA39142.1
    mRNA Y00724.1 CAA68709.1
    mRNA Z74616.1 CAA98969.1
    Protein Accession Links
    GenPept Link UniProtKB Link
    P08123.7 GenPept UniProtKB/Swiss-Prot:P08123
    Q14036 GenPept UniProtKB/TrEMBL:Q14036
    Q75N18 GenPept UniProtKB/TrEMBL:Q75N18
    Q7KZ71 GenPept UniProtKB/TrEMBL:Q7KZ71
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    Additional Links

    Additional Links

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Medical
    Molecular Biology Databases
    Research Materials
    Tools
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