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    COL1A2 collagen, type I, alpha 2 [ Homo sapiens (human) ]

    Gene ID: 1278, updated on 16-May-2013
    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]
    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 Bet1 golgi vesicular membrane trafficking protein Neighboring gene CAS1 domain containing 1 Neighboring gene sarcoglycan, epsilon

    Go to nucleotideGraphics FASTA GenBank

    Go to reference sequence details

    Related articles in PubMed

    1. SIRT1 deacetylates RFX5 and antagonizes repression of collagen type I (COL1A2) transcription in smooth muscle cells. Xia J, et al. Biochem Biophys Res Commun, 2012 Nov 16. PMID 23079621.
    2. Charting the landscape of tandem BRCT domain-mediated protein interactions. Woods NT, et al. Sci Signal, 2012 Sep 18. PMID 22990118.
    3. COL1A2 polymorphic markers confer an increased risk of neovascular age-related macular degeneration in a Han Chinese population. Zuo C, et al. Mol Vis, 2012. PMID 22815632.
    4. Synergistic roles of scleraxis and Smads in the regulation of collagen 1α2 gene expression. Bagchi RA, et al. Biochim Biophys Acta, 2012 Oct. PMID 22796342.
    5. Linkage and association of successful aging to the 6q25 region in large Amish kindreds. Edwards DR, et al. Age (Dordr), 2012 Jul 7. PMID 22773346.

    See all (241) citations in PubMed

    See citations in PubMed for homologs of this gene provided by HomoloGene

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

    1. these data have identified as novel pathway whereby SIRT1 maintains COL1A2 synthesis in SMCs by modulating RFX5 activity.
      Title: SIRT1 deacetylates RFX5 and antagonizes repression of collagen type I (COL1A2) transcription in smooth muscle cells.
    2. found no evidence supporting the putative link of COL1A2 alleles with otosclerosis.
      Title: No evidence for disturbed COL1A1 and A2 expression in otosclerosis.
    3. Studies suggest potential associations between levels of the collagen type I telopeptides (NTX and CTX) and the severity of metastatic bone disease as well as outcomes during antiresorptive therapy.
      Title: Biochemical markers of bone turnover and clinical outcomes in men with prostate cancer.
    4. Scleraxis thus appears to play a key role in the transcriptional regulation of type I collagen synthesis.
      Title: Synergistic roles of scleraxis and Smads in the regulation of collagen 1α2 gene expression.
    5. The rs42524 polymorphism in COL1A2 is a risk allele for neovascular age-related macular degeneration (nAMD) in a Han Chinese population.
      Title: COL1A2 polymorphic markers confer an increased risk of neovascular age-related macular degeneration in a Han Chinese population.
    6. Data suggest that the Collagen alpha2 (I) (COL1A2) gene may play a role in the tumorigenesis of head and neck squamous cell carcinoma (HNSCC) and may serve as an important biomarker.
      Title: Hypermethylation of collagen α2 (I) gene (COL1A2) is an independent predictor of survival in head and neck cancer.
    7. TGF-beta stimulation upregulated type I collagen expression via miR-196a downregulation in normal fibroblasts. Cotransfection of the 196a protector blocked the miR-196a inhibitor-mediated upregulation of a2(I) collagen.
      Title: TGF-β-mediated downregulation of microRNA-196a contributes to the constitutive upregulated type I collagen expression in scleroderma dermal fibroblasts.
    8. 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.
    9. 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.
    10. 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.
    Submit: New GeneRIF Correction See all (100)

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

    Review eQTL and phenotype association data in this region using PheGenI

    Osteogenesis imperfecta

    Summary from GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta Go to GeneReviews

    Disease Characteristics
    COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.
    Diagnosis Testing
    The diagnosis of COL1A1/2-related OI is based on: Family history, a history of fractures, and characteristic physical findings; Radiographic findings (fractures of varying ages and stages of healing, wormian bones, "codfish" vertebrae, and osteopenia); and Molecular genetic testing of COL1A1 and COL1A2 and/or biochemical analysis of type 1 collagen. Biochemical testing (i.e., analysis of the structure and quantity of type I collagen synthesized in vitro by cultured dermal fibroblasts) detects abnormalities in 98% of individuals with historically classified OI type II, about 90% with OI type I, about 84% with OI type III, and about 84% with OI type IV. Molecular genetic testing of COL1A1 and COL1A2 detects abnormalities in more than 90% of individuals with historically classified OI types I, II, III, or IV.
    Genetic Counseling
    COL1A1/2-related OI is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. Gonadal mosaicism may be present in 3%-5% of cases. Each child of an individual with a dominantly inherited form of COL1A1/2-related OI has a 50% chance of inheriting the mutation and of developing some manifestations of OI. Prenatal testing in at-risk pregnancies can be performed by molecular genetic testing if the COL1A1 or COL1A2 mutation has been identified in an affected relative. Ultrasound examination performed in a center with experience in diagnosing OI can be valuable in the prenatal diagnosis of the lethal form and most severe forms prior to 20 weeks' gestation; milder forms may be detected later in pregnancy if fractures or deformities occur.
    References

    Osteogenesis imperfecta type III

    Summary from GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta Go to GeneReviews

    Disease Characteristics
    COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.
    Diagnosis Testing
    The diagnosis of COL1A1/2-related OI is based on: Family history, a history of fractures, and characteristic physical findings; Radiographic findings (fractures of varying ages and stages of healing, wormian bones, "codfish" vertebrae, and osteopenia); and Molecular genetic testing of COL1A1 and COL1A2 and/or biochemical analysis of type 1 collagen. Biochemical testing (i.e., analysis of the structure and quantity of type I collagen synthesized in vitro by cultured dermal fibroblasts) detects abnormalities in 98% of individuals with historically classified OI type II, about 90% with OI type I, about 84% with OI type III, and about 84% with OI type IV. Molecular genetic testing of COL1A1 and COL1A2 detects abnormalities in more than 90% of individuals with historically classified OI types I, II, III, or IV.
    Genetic Counseling
    COL1A1/2-related OI is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. Gonadal mosaicism may be present in 3%-5% of cases. Each child of an individual with a dominantly inherited form of COL1A1/2-related OI has a 50% chance of inheriting the mutation and of developing some manifestations of OI. Prenatal testing in at-risk pregnancies can be performed by molecular genetic testing if the COL1A1 or COL1A2 mutation has been identified in an affected relative. Ultrasound examination performed in a center with experience in diagnosing OI can be valuable in the prenatal diagnosis of the lethal form and most severe forms prior to 20 weeks' gestation; milder forms may be detected later in pregnancy if fractures or deformities occur.
    References

    Osteogenesis imperfecta with normal sclerae, dominant form

    Summary from GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta Go to GeneReviews

    Disease Characteristics
    COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.
    Diagnosis Testing
    The diagnosis of COL1A1/2-related OI is based on: Family history, a history of fractures, and characteristic physical findings; Radiographic findings (fractures of varying ages and stages of healing, wormian bones, "codfish" vertebrae, and osteopenia); and Molecular genetic testing of COL1A1 and COL1A2 and/or biochemical analysis of type 1 collagen. Biochemical testing (i.e., analysis of the structure and quantity of type I collagen synthesized in vitro by cultured dermal fibroblasts) detects abnormalities in 98% of individuals with historically classified OI type II, about 90% with OI type I, about 84% with OI type III, and about 84% with OI type IV. Molecular genetic testing of COL1A1 and COL1A2 detects abnormalities in more than 90% of individuals with historically classified OI types I, II, III, or IV.
    Genetic Counseling
    COL1A1/2-related OI is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. Gonadal mosaicism may be present in 3%-5% of cases. Each child of an individual with a dominantly inherited form of COL1A1/2-related OI has a 50% chance of inheriting the mutation and of developing some manifestations of OI. Prenatal testing in at-risk pregnancies can be performed by molecular genetic testing if the COL1A1 or COL1A2 mutation has been identified in an affected relative. Ultrasound examination performed in a center with experience in diagnosing OI can be valuable in the prenatal diagnosis of the lethal form and most severe forms prior to 20 weeks' gestation; milder forms may be detected later in pregnancy if fractures or deformities occur.
    References

    Osteogenesis imperfecta, recessive perinatal lethal

    Summary from GeneReviews: COL1A1/2-Related Osteogenesis Imperfecta Go to GeneReviews

    Disease Characteristics
    COL1A1/2-related osteogenesis imperfecta (OI) is characterized by fractures with minimal or absent trauma, variable dentinogenesis imperfecta (DI), and, in adult years, hearing loss. The clinical features of COL1A1/2-related OI represent a continuum ranging from perinatal lethality to individuals with severe skeletal deformities, mobility impairments, and very short stature to nearly asymptomatic individuals with a mild predisposition to fractures, normal dentition, normal stature, and normal life span. Fractures can occur in any bone, but are most common in the extremities. DI is characterized by grey or brown teeth that may appear translucent and wear down and break easily. COL1A1/2-related OI has been classified into four types (I, II, III, and IV) based on clinical presentation and radiographic findings. This classification system can be helpful in providing information about prognosis and management for a given individual. The four OI types are now referred to as follows: OI type I: classic non-deforming OI with blue sclerae. OI type II: perinatally lethal OI. OI type III: progressively deforming OI. OI type IV: common variable OI with normal sclerae.
    Diagnosis Testing
    The diagnosis of COL1A1/2-related OI is based on: Family history, a history of fractures, and characteristic physical findings; Radiographic findings (fractures of varying ages and stages of healing, wormian bones, "codfish" vertebrae, and osteopenia); and Molecular genetic testing of COL1A1 and COL1A2 and/or biochemical analysis of type 1 collagen. Biochemical testing (i.e., analysis of the structure and quantity of type I collagen synthesized in vitro by cultured dermal fibroblasts) detects abnormalities in 98% of individuals with historically classified OI type II, about 90% with OI type I, about 84% with OI type III, and about 84% with OI type IV. Molecular genetic testing of COL1A1 and COL1A2 detects abnormalities in more than 90% of individuals with historically classified OI types I, II, III, or IV.
    Genetic Counseling
    COL1A1/2-related OI is inherited in an autosomal dominant manner. The proportion of cases caused by a de novo COL1A1 or COL1A2 mutation varies by the severity of disease: approximately 60% of cases of classic non-deforming OI with blue sclerae or common variable OI with normal sclerae, virtually 100% of perinatally lethal OI, and close to 100% of progressively deforming OI are de novo. Gonadal mosaicism may be present in 3%-5% of cases. Each child of an individual with a dominantly inherited form of COL1A1/2-related OI has a 50% chance of inheriting the mutation and of developing some manifestations of OI. Prenatal testing in at-risk pregnancies can be performed by molecular genetic testing if the COL1A1 or COL1A2 mutation has been identified in an affected relative. Ultrasound examination performed in a center with experience in diagnosing OI can be valuable in the prenatal diagnosis of the lethal form and most severe forms prior to 20 weeks' gestation; milder forms may be detected later in pregnancy if fractures or deformities occur.
    References
    Protein Gene Interaction Pubs
    Tat, p14 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

    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:110169 LIG4    BioGRID  PubMed Two-hybrid 
    BioGRID:107675 BioGRID:110736 MYOC    BioGRID  PubMed Two-hybrid 
    BioGRID:107675 BioGRID:112359 SHBG    BioGRID  PubMed Two-hybrid 
    BioGRID:107675 BioGRID:113164 UBC    BioGRID  PubMed Affinity Capture-MS 
    • 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...
    • Assembly of collagen fibrils and other multimeric structures, organism-specific biosystem (from REACTOME)
      Assembly of collagen fibrils and other multimeric structures, organism-specific biosystemCollagen trimers in triple-helical form, referred to as procollagen or collagen molecules, are exported from the ER and trafficked through the Golgi network before secretion into the extracellular sp...
    • 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
    • Collagen biosynthesis and modifying enzymes, organism-specific biosystem (from REACTOME)
      Collagen biosynthesis and modifying enzymes, organism-specific biosystemThe biosynthesis of collagen is a multistep process. Collagen propeptides are cotranslationally translocated into the ER lumen. Propeptides undergo a number of post-translational modifications. Proli...
    • Collagen formation, organism-specific biosystem (from REACTOME)
      Collagen formation, organism-specific biosystemCollagen is a family of at least 29 structural proteins derived from over 40 human genes (Myllyharju & Kivirikko 2004). It is the main component of connective tissue, and the most abundant protein in...
    • 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
    • Extracellular matrix organization, organism-specific biosystem (from REACTOME)
      Extracellular matrix organization, organism-specific biosystemThe extracellular matrix is a component of all mammalian tissues, a network consisting largely of the fibrous proteins collagen, elastin, fibronectin and laminin embedded in a viscoelastic gel of ani...
    • 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...
    • 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...
    • PI3K-Akt signaling pathway, organism-specific biosystem (from KEGG)
      PI3K-Akt signaling pathway, organism-specific biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • PI3K-Akt signaling pathway, conserved biosystem (from KEGG)
      PI3K-Akt signaling pathway, conserved biosystemThe phosphatidylinositol 3' -kinase(PI3K)-Akt signaling pathway is activated by many types of cellular stimuli or toxic insults and regulates fundamental cellular functions such as transcription, tra...
    • 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...
    • 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

    Markers

    Genotypes

    Homology

    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 
    metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    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 
    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 catabolic process TAS
    Traceable Author Statement
    more info
    		  
    collagen fibril organization IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    extracellular matrix disassembly TAS
    Traceable Author Statement
    more info
    		  
    extracellular matrix organization TAS
    Traceable Author Statement
    more info
    		  
    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 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 
    endoplasmic reticulum lumen TAS
    Traceable Author Statement
    more info
    		  
    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 
    extracellular vesicular exosome IDA
    Inferred from Direct Assay
    more info
    		  
    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

    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)
      smart00038
      Location:1132 – 1366
      Blast Score: 1019
      COLFI; Fibrillar collagens C-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 104

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

    Reference GRCh37.p10 Primary Assembly

    Genomic

    1. NC_000007.13 Reference GRCh37.p10 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)

    Alternate CHM1_1.0

    Genomic

    1. NC_018918.1 Alternate CHM1_1.0

      Range
      97330429..97367100
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    genomic AACC02000014.1 (227074..263722) None
    genomic AB004317.1 BAA25383.1
    genomic ABBA01045783.1 (20593..53350) None
    genomic ABBA01045784.1 None
    genomic AC002074.2 AAS02025.1
    genomic AC002528.1 AAB69977.1
    genomic AF004877.1 AAB93981.1
    genomic AMYH01017695.1 (602134..638805) None
    genomic CH236949.1 (3437990..3474638) 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

    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
    Miscellaneous

      Supplemental Content

      Table of contents

      Related information

      • Order cDNA clone
        Order cDNA clone
      • BioAssay
        Related PubChem BioAssays
      • BioProjects
        BioProjects related to a gene
      • BioSystems
        BioSystems
      • Books
        Links between Entrez Gene and 'Books' are established if a GeneID is explicitly referenced in a book.
      • CCDS
        Links from Gene to CCDS are established if a gene encodes a protein sequence that is a member of a Consensus CDS (CCDS).
      • ClinVar
        Related medical variations
      • Conserved Domains
        Conserved Domain Database Links between Entrez Gene and Conserved Domain Database (CDD) are calculated from the domains annotated by the CDD group on Reference Sequence proteins.
      • dbVar
        Link from Gene to dbVar
      • EST
        Link to related EST entry
      • Full text in PMC
        PMC links
      • Full text in PMC_nucleotide
        Full text in PubMedCentral identified from shared sequence links
      • GAP
        GAP Links
      • Genome
        Genome records having the gene annotated on corresponding genomic reference sequence.
      • GEO Profiles
        Related GEO
      • GTR
        GTR associated with a gene
      • HomoloGene
        Links between HomoloGene and Gene are provided by the HomoloGene group when a gene is included in a HomoloGene record.
      • Map Viewer
        These links are maintained by the Map Viewer group and are provided when a GeneID is annotated on a map for the same species.
      • MedGen
        Related information in MedGen
      • Nucleotide
        Link to related Nucleotide entry
      • OMIM
        Links between OMIM and Gene are calculated by Gene based on MIM numbers included in the summary and phenotype sections of the Gene record.
      • Probe
        Related Probe entry
      • Protein
        Link to related protein entry
      • PubChem Compound
        PubChem Compounds
      • PubChem Substance
        PubChem Substances
      • PubMed
        Links between Gene and PubMed are the result of the following: 1. Manual curation within NCBI. Part of the process of generating a REVIEWED RefSeq is an analysis of the current literature. Papers that are seminal in defining the gene, its sequence, and its function are added to the record at that time. Alert users point out gaps or errors in papers associated with a Gene record. These messages are reviewed and implemented as required. 2. Integration of information from other public databases. Gene integrates gene-citation from resources external to NCBI such as model organism-specific databases, Gene Ontology (GO), groups curating interactions, and sequence databases. The assumption in using these source is that they report citations specific to a gene in a known species. Gene does not process citations from OMIM automatically, because many of citations in OMIM refer to studies of genes in species other than human.
      • PubMed (GeneRIF)
        GeneRIF -- Gene Reference Into Function Staff of the Index Section in the National Library of Medicine review the current literature. When they find articles focused on the structure and function of a gene, they write a brief summary of the impact of the paper and make the connection between the citation (PubMed) and Gene. An interface exists for interested users to submit such data as well. http://www.ncbi.nlm.nih.gov/projects/GeneRIF/GeneRIFhelp.html
      • PubMed (OMIM)
        Links are provided when Gene has a link to a record in OMIM, and OMIM explicitly cites these publications in PubMed.
      • PubMed(nucleotide/PMC)
        Citations in PubMed identified from shared sequence and PMC links.
      • RefSeq Proteins
        Link to Protein RefSeqs
      • RefSeq RNAs
        Link to Nucleotide RefSeq RNAs
      • RefSeqGene
        Link to Nucleotide RefSeqGenes
      • SNP
        Related SNP records
      • SNP: GeneView
        SNPs linked from GeneView
      • SNP: Genotype
        Gene Genotype Report
      • SNP: VarView
        Related Clinical SNP
      • Taxonomy
        Link to related taxonomy entry
      • UniGene
        Links are provided between Gene and UniGene when both databases calculate links to the same mRNA record (gi).
      • UniSTS
        Related UniSTS records

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