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Protein

Collagen alpha-2(I) chain

Gene

COL1A2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Type I collagen is a member of group I collagen (fibrillar forming collagen).

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi1181CalciumBy similarity1
Metal bindingi1183CalciumBy similarity1
Metal bindingi1184Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1186Calcium; via carbonyl oxygenBy similarity1
Metal bindingi1189CalciumBy similarity1

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

  • extracellular matrix structural constituent Source: GO_Central
  • extracellular matrix structural constituent conferring tensile strength Source: BHF-UCL
  • identical protein binding Source: UniProtKB
  • metal ion binding Source: UniProtKB-KW
  • platelet-derived growth factor binding Source: MGI
  • protease binding Source: CAFA
  • protein binding, bridging Source: UniProtKB
  • SMAD binding Source: Ensembl

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandCalcium, Metal-binding

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-114604 GPVI-mediated activation cascade
R-HSA-1442490 Collagen degradation
R-HSA-1474244 Extracellular matrix organization
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-216083 Integrin cell surface interactions
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils
R-HSA-3000170 Syndecan interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-3000480 Scavenging by Class A Receptors
R-HSA-430116 GP1b-IX-V activation signalling
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
R-HSA-75892 Platelet Adhesion to exposed collagen
R-HSA-76009 Platelet Aggregation (Plug Formation)
R-HSA-8874081 MET activates PTK2 signaling
R-HSA-8948216 Collagen chain trimerization

SIGNOR Signaling Network Open Resource

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SIGNORi
P08123

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Collagen alpha-2(I) chain
Alternative name(s):
Alpha-2 type I collagen
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:COL1A2
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 7

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000164692.17

Human Gene Nomenclature Database

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HGNCi
HGNC:2198 COL1A2

Online Mendelian Inheritance in Man (OMIM)

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MIMi
120160 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P08123

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Extracellular matrix, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2)3 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ehlers-Danlos syndrome, a connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. EDSARTH2 is an autosomal dominant condition characterized by frequent congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement.
See also OMIM:617821
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_00185176 – 93Missing in EDSARTH2. 3 PublicationsAdd BLAST18
Osteogenesis imperfecta 1 (OI1)5 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI1 is a non-deforming form with normal height or mild short stature, and no dentinogenesis imperfecta.
See also OMIM:166200
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_001852211G → D in OI1. 1 PublicationCorresponds to variant dbSNP:rs72656378Ensembl.1
Natural variantiVAR_063346247G → R in OI1. 1 Publication1
Natural variantiVAR_063350319G → R in OI1. 1 PublicationCorresponds to variant dbSNP:rs72656393Ensembl.1
Natural variantiVAR_001855328G → S in OI1, OI3 AND OI4. 2 PublicationsCorresponds to variant dbSNP:rs66612022EnsemblClinVar.1
Natural variantiVAR_063363733G → C in OI1. 1 PublicationCorresponds to variant dbSNP:rs72658172Ensembl.1
Natural variantiVAR_001879736G → C in OI1; mild. 2 PublicationsCorresponds to variant dbSNP:rs72658173Ensembl.1
Natural variantiVAR_001890835G → S in OI1. 1 PublicationCorresponds to variant dbSNP:rs72658193EnsemblClinVar.1
Natural variantiVAR_0633831195C → Y in OI1. 1 PublicationCorresponds to variant dbSNP:rs72659342Ensembl.1
Osteogenesis imperfecta 2 (OI2)16 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI2 is characterized by bone fragility, with many perinatal fractures, severe bowing of long bones, undermineralization, and death in the perinatal period due to respiratory insufficiency.
See also OMIM:166210
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_063345234R → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs1206388800Ensembl.1
Natural variantiVAR_063347253G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72656385Ensembl.1
Natural variantiVAR_063349283G → R in OI2. 1 Publication1
Natural variantiVAR_001856334G → C in OI2. 1
Natural variantiVAR_063353397G → E in OI2. 1 Publication1
Natural variantiVAR_001861409G → V in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658109Ensembl.1
Natural variantiVAR_001862433G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658114Ensembl.1
Natural variantiVAR_063354454G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658117EnsemblClinVar.1
Natural variantiVAR_063355457G → L in OI2; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_063356461 – 466Missing in OI2. 1 Publication6
Natural variantiVAR_001864511G → D in OI2. Corresponds to variant dbSNP:rs66999265Ensembl.1
Natural variantiVAR_063357526G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658130Ensembl.1
Natural variantiVAR_001866547G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658136Ensembl.1
Natural variantiVAR_001868562G → C in OI2. Corresponds to variant dbSNP:rs72658138Ensembl.1
Natural variantiVAR_063358562G → V in OI2. 1 Publication1
Natural variantiVAR_001869586G → R in OI2. Corresponds to variant dbSNP:rs72658139Ensembl.1
Natural variantiVAR_001870592G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658141Ensembl.1
Natural variantiVAR_063360625G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658145Ensembl.1
Natural variantiVAR_001872637G → D in OI2. Corresponds to variant dbSNP:rs72658148Ensembl.1
Natural variantiVAR_001873640G → S in OI2. 1
Natural variantiVAR_001874670G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658155Ensembl.1
Natural variantiVAR_030120676 – 855Missing in OI2. 1 PublicationAdd BLAST180
Natural variantiVAR_063362705 – 707Missing in OI2. 1 Publication3
Natural variantiVAR_001877715G → D in OI2. Corresponds to variant dbSNP:rs72658167Ensembl.1
Natural variantiVAR_001878730G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658171Ensembl.1
Natural variantiVAR_063364739G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658174Ensembl.1
Natural variantiVAR_063365748G → V in OI2. 1 Publication1
Natural variantiVAR_001882754G → R in OI2. 1
Natural variantiVAR_001885784G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs66592844Ensembl.1
Natural variantiVAR_001886787G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658187Ensembl.1
Natural variantiVAR_001887790G → D in OI2. 2 PublicationsCorresponds to variant dbSNP:rs72658188Ensembl.1
Natural variantiVAR_001888796G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs66716547Ensembl.1
Natural variantiVAR_063367798P → PP in OI2. 1 Publication1
Natural variantiVAR_063368806 – 811Missing in OI2. 1 Publication6
Natural variantiVAR_063373856G → V in OI2. 1 Publication1
Natural variantiVAR_001891877G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658201Ensembl.1
Natural variantiVAR_001893895G → D in OI2. Corresponds to variant dbSNP:rs72659305Ensembl.1
Natural variantiVAR_063374955G → D in OI2. 1 Publication1
Natural variantiVAR_001895955G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs66507857Ensembl.1
Natural variantiVAR_063375982G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs67422093Ensembl.1
Natural variantiVAR_001896997G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72659317Ensembl.1
Natural variantiVAR_0633781003G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs1114167414Ensembl.1
Natural variantiVAR_0633791027G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72659323Ensembl.1
Natural variantiVAR_0633801058 – 1062Missing in OI2. 1 Publication5
Natural variantiVAR_0018991066G → D in OI2. Corresponds to variant dbSNP:rs72659331Ensembl.1
Natural variantiVAR_0019001078G → C in OI2. 1
Ehlers-Danlos syndrome, cardiac valvular type (EDSCV)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of Ehlers-Danlos syndrome, a group of connective tissue disorders characterized by skin hyperextensibility, articular hypermobility, and tissue fragility. EDSCV is an autosomal recessive disease characterized by mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency, in addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation.
See also OMIM:225320
Osteogenesis imperfecta 3 (OI3)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI3 is characterized by progressively deforming bones, very short stature, a triangular face, severe scoliosis, grayish sclera and dentinogenesis imperfecta.
See also OMIM:259420
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_008119331G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs67729041EnsemblClinVar.1
Natural variantiVAR_001857337G → C in OI3. 1 PublicationCorresponds to variant dbSNP:rs67865220EnsemblClinVar.1
Natural variantiVAR_001858337G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs67865220EnsemblClinVar.1
Natural variantiVAR_001859345Missing in OI3. 1 Publication1
Natural variantiVAR_001860349G → C in OI3. 2 PublicationsCorresponds to variant dbSNP:rs66773001EnsemblClinVar.1
Natural variantiVAR_063352358G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs66619856EnsemblClinVar.1
Natural variantiVAR_001863460G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658118EnsemblClinVar.1
Natural variantiVAR_001865517G → R in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658126Ensembl.1
Natural variantiVAR_063361676G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs66883877EnsemblClinVar.1
Natural variantiVAR_001875676G → V in OI3 and OI4. 2 PublicationsCorresponds to variant dbSNP:rs66883877EnsemblClinVar.1
Natural variantiVAR_001884778G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658186EnsemblClinVar.1
Natural variantiVAR_063370820G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658191Ensembl.1
Natural variantiVAR_063371835G → C in OI3. 1 Publication1
Natural variantiVAR_063372856G → R in OI3. 1 Publication1
Natural variantiVAR_001892892G → D in OI3 and OI4. 1 PublicationCorresponds to variant dbSNP:rs72659304Ensembl.1
Natural variantiVAR_001894949G → S in OI3; moderate. 2 PublicationsCorresponds to variant dbSNP:rs72659312Ensembl.1
Natural variantiVAR_008120973G → V in OI3. 1 PublicationCorresponds to variant dbSNP:rs67609234EnsemblClinVar.1
Natural variantiVAR_063377991G → V in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659316Ensembl.1
Natural variantiVAR_0018971012G → S in OI3 and OI4; moderate. 2 PublicationsCorresponds to variant dbSNP:rs72659319EnsemblClinVar.1
Natural variantiVAR_0633811087G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659335Ensembl.1
Natural variantiVAR_0019011096G → A in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659337Ensembl.1
Natural variantiVAR_0019041148T → P in OI3. 1 PublicationCorresponds to variant dbSNP:rs1800250Ensembl.1
Osteogenesis imperfecta 4 (OI4)10 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal dominant form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI4 is characterized by moderately short stature, mild to moderate scoliosis, grayish or white sclera and dentinogenesis imperfecta.
See also OMIM:166220
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_030117181 – 198Missing in OI4. 1 PublicationAdd BLAST18
Natural variantiVAR_063343193G → S in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656370EnsemblClinVar.1
Natural variantiVAR_063344202G → R in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656376Ensembl.1
Natural variantiVAR_063348256G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs67525025EnsemblClinVar.1
Natural variantiVAR_063351325G → E in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656395Ensembl.1
Natural variantiVAR_001855328G → S in OI1, OI3 AND OI4. 2 PublicationsCorresponds to variant dbSNP:rs66612022EnsemblClinVar.1
Natural variantiVAR_001871634G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658147Ensembl.1
Natural variantiVAR_001875676G → V in OI3 and OI4. 2 PublicationsCorresponds to variant dbSNP:rs66883877EnsemblClinVar.1
Natural variantiVAR_001881751G → S in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658176EnsemblClinVar.1
Natural variantiVAR_063366754G → C in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658177EnsemblClinVar.1
Natural variantiVAR_001883766G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658183Ensembl.1
Natural variantiVAR_063369811G → GPPG in OI4. 1
Natural variantiVAR_001892892G → D in OI3 and OI4. 1 PublicationCorresponds to variant dbSNP:rs72659304Ensembl.1
Natural variantiVAR_063376989P → PVGP in OI4. 1
Natural variantiVAR_0018971012G → S in OI3 and OI4; moderate. 2 PublicationsCorresponds to variant dbSNP:rs72659319EnsemblClinVar.1
Natural variantiVAR_0633821094 – 1096Missing in OI4. 1 Publication3
Natural variantiVAR_0019021102G → R in OI4. 1 PublicationCorresponds to variant dbSNP:rs67768540Ensembl.1
A chromosomal aberration involving COL1A2 may be a cause of lipoblastomas, which are benign tumors resulting from transformation of adipocytes, usually diagnosed in children. Translocation t(7;8)(p22;q13) with PLAG1.

Keywords - Diseasei

Disease mutation, Dwarfism, Ehlers-Danlos syndrome, Osteogenesis imperfecta

Organism-specific databases

DisGeNET

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DisGeNETi
1278

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
COL1A2

MalaCards human disease database

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MalaCardsi
COL1A2
MIMi166200 phenotype
166210 phenotype
166220 phenotype
225320 phenotype
259420 phenotype
617821 phenotype

Open Targets

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OpenTargetsi
ENSG00000164692

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
99876 Ehlers-Danlos syndrome type 7B
230851 Ehlers-Danlos syndrome, cardiac valvular type
230857 Ehlers-Danlos/osteogenesis imperfecta syndrome
314029 High bone mass osteogenesis imperfecta
216796 Osteogenesis imperfecta type 1
216804 Osteogenesis imperfecta type 2
216812 Osteogenesis imperfecta type 3
216820 Osteogenesis imperfecta type 4

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35042

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL2685

Drug and drug target database

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DrugBanki
DB00048 Collagenase clostridium histolyticum

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
COL1A2

Domain mapping of disease mutations (DMDM)

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DMDMi
296439507

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 22By similarityAdd BLAST22
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section describes a propeptide, which is a part of a protein that is cleaved during maturation or activation. Once cleaved, a propeptide generally has no independent biological function.<p><a href='/help/propep' target='_top'>More...</a></p>PropeptideiPRO_000000580423 – 79N-terminal propeptide1 PublicationAdd BLAST57
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000580580 – 1119Collagen alpha-2(I) chainAdd BLAST1040
PropeptideiPRO_00000058061120 – 1366C-terminal propeptideAdd BLAST247

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei23Pyrrolidone carboxylic acid1 Publication1
Modified residuei474-hydroxyproline2 Publications1
Modified residuei504-hydroxyproline2 Publications1
Modified residuei624-hydroxyproline2 Publications1
Modified residuei654-hydroxyproline2 Publications1
Modified residuei684-hydroxyproline2 Publications1
Modified residuei714-hydroxyproline2 Publications1
Modified residuei80Pyrrolidone carboxylic acid1 Publication1
Modified residuei84Allysine1 Publication1
Modified residuei1024-hydroxyproline1 Publication1
Modified residuei1084-hydroxyproline1 Publication1
Modified residuei1775-hydroxylysine; alternate1 Publication1
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi177O-linked (Gal...) hydroxylysine; alternate1 Publication1
Modified residuei4204-hydroxyproline1 Publication1
Modified residuei4414-hydroxyproline1 Publication1
Modified residuei4444-hydroxyproline1 Publication1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi1163 ↔ 1195PROSITE-ProRule annotation
Disulfide bondi1203 ↔ 1364PROSITE-ProRule annotation
Glycosylationi1267N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1272 ↔ 1317PROSITE-ProRule annotation

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Hydroxylation, Pyrrolidone carboxylic acid

Proteomic databases

Encyclopedia of Proteome Dynamics

More...
EPDi
P08123

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
P08123

MaxQB - The MaxQuant DataBase

More...
MaxQBi
P08123

PaxDb, a database of protein abundance averages across all three domains of life

More...
PaxDbi
P08123

PeptideAtlas

More...
PeptideAtlasi
P08123

PRoteomics IDEntifications database

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PRIDEi
P08123

ProteomicsDB human proteome resource

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ProteomicsDBi
52070

PTM databases

GlyConnect protein glycosylation platform

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GlyConnecti
1135

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P08123

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P08123

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000164692 Expressed in 238 organ(s), highest expression level in tibia

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P08123 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P08123 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
CAB032650
HPA059738

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Trimers of one alpha 2(I) and two alpha 1(I) chains.

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

More...
BioGridi
107675, 23 interactors

ComplexPortal: manually curated resource of macromolecular complexes

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ComplexPortali
CPX-1650 Collagen type I trimer

Database of interacting proteins

More...
DIPi
DIP-36079N

Protein interaction database and analysis system

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IntActi
P08123, 23 interactors

Molecular INTeraction database

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MINTi
P08123

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000297268

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

Select the link destinations:

Protein Data Bank Europe

More...
PDBei

Protein Data Bank RCSB

More...
RCSB PDBi

Protein Data Bank Japan

More...
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CTDX-ray1.60B484-495[»]
5CTIX-ray1.90B484-495[»]
5CVAX-ray2.10A/D484-495[»]

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P08123

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P08123

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini1133 – 1366Fibrillar collagen NC1PROSITE-ProRule annotationAdd BLAST234

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The C-terminal propeptide, also known as COLFI domain, have crucial roles in tissue growth and repair by controlling both the intracellular assembly of procollagen molecules and the extracellular assembly of collagen fibrils. It binds a calcium ion which is essential for its function.By similarity

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the fibrillar collagen family.PROSITE-ProRule annotation

Keywords - Domaini

Collagen, Repeat, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
KOG3544 Eukaryota
ENOG410XNMM LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155639

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG004933

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P08123

KEGG Orthology (KO)

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KOi
K06236

Identification of Orthologs from Complete Genome Data

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OMAi
PTGKHGN

Database of Orthologous Groups

More...
OrthoDBi
1406711at2759

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P08123

TreeFam database of animal gene trees

More...
TreeFami
TF344135

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR008160 Collagen
IPR000885 Fib_collagen_C

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF01410 COLFI, 1 hit
PF01391 Collagen, 6 hits

ProDom; a protein domain database

More...
ProDomi
View protein in ProDom or Entries sharing at least one domain
PD002078 Fib_collagen_C, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00038 COLFI, 1 hit

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS51461 NC1_FIB, 1 hit

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

P08123-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLSFVDTRTL LLLAVTLCLA TCQSLQEETV RKGPAGDRGP RGERGPPGPP
60 70 80 90 100
GRDGEDGPTG PPGPPGPPGP PGLGGNFAAQ YDGKGVGLGP GPMGLMGPRG
110 120 130 140 150
PPGAAGAPGP QGFQGPAGEP GEPGQTGPAG ARGPAGPPGK AGEDGHPGKP
160 170 180 190 200
GRPGERGVVG PQGARGFPGT PGLPGFKGIR GHNGLDGLKG QPGAPGVKGE
210 220 230 240 250
PGAPGENGTP GQTGARGLPG ERGRVGAPGP AGARGSDGSV GPVGPAGPIG
260 270 280 290 300
SAGPPGFPGA PGPKGEIGAV GNAGPAGPAG PRGEVGLPGL SGPVGPPGNP
310 320 330 340 350
GANGLTGAKG AAGLPGVAGA PGLPGPRGIP GPVGAAGATG ARGLVGEPGP
360 370 380 390 400
AGSKGESGNK GEPGSAGPQG PPGPSGEEGK RGPNGEAGSA GPPGPPGLRG
410 420 430 440 450
SPGSRGLPGA DGRAGVMGPP GSRGASGPAG VRGPNGDAGR PGEPGLMGPR
460 470 480 490 500
GLPGSPGNIG PAGKEGPVGL PGIDGRPGPI GPAGARGEPG NIGFPGPKGP
510 520 530 540 550
TGDPGKNGDK GHAGLAGARG APGPDGNNGA QGPPGPQGVQ GGKGEQGPPG
560 570 580 590 600
PPGFQGLPGP SGPAGEVGKP GERGLHGEFG LPGPAGPRGE RGPPGESGAA
610 620 630 640 650
GPTGPIGSRG PSGPPGPDGN KGEPGVVGAV GTAGPSGPSG LPGERGAAGI
660 670 680 690 700
PGGKGEKGEP GLRGEIGNPG RDGARGAPGA VGAPGPAGAT GDRGEAGAAG
710 720 730 740 750
PAGPAGPRGS PGERGEVGPA GPNGFAGPAG AAGQPGAKGE RGAKGPKGEN
760 770 780 790 800
GVVGPTGPVG AAGPAGPNGP PGPAGSRGDG GPPGMTGFPG AAGRTGPPGP
810 820 830 840 850
SGISGPPGPP GPAGKEGLRG PRGDQGPVGR TGEVGAVGPP GFAGEKGPSG
860 870 880 890 900
EAGTAGPPGT PGPQGLLGAP GILGLPGSRG ERGLPGVAGA VGEPGPLGIA
910 920 930 940 950
GPPGARGPPG AVGSPGVNGA PGEAGRDGNP GNDGPPGRDG QPGHKGERGY
960 970 980 990 1000
PGNIGPVGAA GAPGPHGPVG PAGKHGNRGE TGPSGPVGPA GAVGPRGPSG
1010 1020 1030 1040 1050
PQGIRGDKGE PGEKGPRGLP GLKGHNGLQG LPGIAGHHGD QGAPGSVGPA
1060 1070 1080 1090 1100
GPRGPAGPSG PAGKDGRTGH PGTVGPAGIR GPQGHQGPAG PPGPPGPPGP
1110 1120 1130 1140 1150
PGVSGGGYDF GYDGDFYRAD QPRSAPSLRP KDYEVDATLK SLNNQIETLL
1160 1170 1180 1190 1200
TPEGSRKNPA RTCRDLRLSH PEWSSGYYWI DPNQGCTMDA IKVYCDFSTG
1210 1220 1230 1240 1250
ETCIRAQPEN IPAKNWYRSS KDKKHVWLGE TINAGSQFEY NVEGVTSKEM
1260 1270 1280 1290 1300
ATQLAFMRLL ANYASQNITY HCKNSIAYMD EETGNLKKAV ILQGSNDVEL
1310 1320 1330 1340 1350
VAEGNSRFTY TVLVDGCSKK TNEWGKTIIE YKTNKPSRLP FLDIAPLDIG
1360
GADQEFFVDI GPVCFK
Length:1,366
Mass (Da):129,314
Last modified:May 18, 2010 - v7
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:i1E68A5970FB4210A
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A087WTA8A0A087WTA8_HUMAN
Collagen alpha-2(I) chain
COL1A2
1,364Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti55E → G in CAA26320 (PubMed:4011429).Curated1
Sequence conflicti333V → P in AAB59374 (PubMed:2824475).Curated1
Sequence conflicti338A → T in AAB59374 (PubMed:2824475).Curated1
Sequence conflicti549P → D in CAA68709 (PubMed:3421913).Curated1
Sequence conflicti828V → A in CAA23761 (PubMed:6687691).Curated1
Sequence conflicti831T → P in CAA23761 (PubMed:6687691).Curated1
Sequence conflicti837V → P in CAA23761 (PubMed:6687691).Curated1
Sequence conflicti980E → V in AAA51996 (PubMed:6267597).Curated1
Sequence conflicti1098P → L in CAA23761 (PubMed:6687691).Curated1
Sequence conflicti1122 – 1125Missing in CAA23761 (PubMed:6687691).Curated4
Sequence conflicti1338R → A in AAA51887 (PubMed:6309769).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03011659T → P1 PublicationCorresponds to variant dbSNP:rs1800221Ensembl.1
Natural variantiVAR_00185176 – 93Missing in EDSARTH2. 3 PublicationsAdd BLAST18
Natural variantiVAR_030117181 – 198Missing in OI4. 1 PublicationAdd BLAST18
Natural variantiVAR_063343193G → S in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656370EnsemblClinVar.1
Natural variantiVAR_063344202G → R in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656376Ensembl.1
Natural variantiVAR_001852211G → D in OI1. 1 PublicationCorresponds to variant dbSNP:rs72656378Ensembl.1
Natural variantiVAR_063345234R → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs1206388800Ensembl.1
Natural variantiVAR_063346247G → R in OI1. 1 Publication1
Natural variantiVAR_001853249I → N1 PublicationCorresponds to variant dbSNP:rs1800228Ensembl.1
Natural variantiVAR_063347253G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72656385Ensembl.1
Natural variantiVAR_063348256G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs67525025EnsemblClinVar.1
Natural variantiVAR_030118270V → I1 PublicationCorresponds to variant dbSNP:rs368468EnsemblClinVar.1
Natural variantiVAR_001854276A → T1 PublicationCorresponds to variant dbSNP:rs1800231Ensembl.1
Natural variantiVAR_063349283G → R in OI2. 1 Publication1
Natural variantiVAR_063350319G → R in OI1. 1 PublicationCorresponds to variant dbSNP:rs72656393Ensembl.1
Natural variantiVAR_063351325G → E in OI4. 1 PublicationCorresponds to variant dbSNP:rs72656395Ensembl.1
Natural variantiVAR_001855328G → S in OI1, OI3 AND OI4. 2 PublicationsCorresponds to variant dbSNP:rs66612022EnsemblClinVar.1
Natural variantiVAR_008119331G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs67729041EnsemblClinVar.1
Natural variantiVAR_001856334G → C in OI2. 1
Natural variantiVAR_001857337G → C in OI3. 1 PublicationCorresponds to variant dbSNP:rs67865220EnsemblClinVar.1
Natural variantiVAR_001858337G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs67865220EnsemblClinVar.1
Natural variantiVAR_055677344L → V. Corresponds to variant dbSNP:rs16868573Ensembl.1
Natural variantiVAR_001859345Missing in OI3. 1 Publication1
Natural variantiVAR_001860349G → C in OI3. 2 PublicationsCorresponds to variant dbSNP:rs66773001EnsemblClinVar.1
Natural variantiVAR_063352358G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs66619856EnsemblClinVar.1
Natural variantiVAR_063353397G → E in OI2. 1 Publication1
Natural variantiVAR_001861409G → V in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658109Ensembl.1
Natural variantiVAR_001862433G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658114Ensembl.1
Natural variantiVAR_063354454G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658117EnsemblClinVar.1
Natural variantiVAR_063355457G → L in OI2; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_001863460G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658118EnsemblClinVar.1
Natural variantiVAR_063356461 – 466Missing in OI2. 1 Publication6
Natural variantiVAR_030119483A → V2 PublicationsCorresponds to variant dbSNP:rs414408Ensembl.1
Natural variantiVAR_001864511G → D in OI2. Corresponds to variant dbSNP:rs66999265Ensembl.1
Natural variantiVAR_001865517G → R in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658126Ensembl.1
Natural variantiVAR_063357526G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658130Ensembl.1
Natural variantiVAR_033040528N → S1 PublicationCorresponds to variant dbSNP:rs41317144Ensembl.1
Natural variantiVAR_001866547G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658136Ensembl.1
Natural variantiVAR_001867549P → A7 PublicationsCorresponds to variant dbSNP:rs42524EnsemblClinVar.1
Natural variantiVAR_001868562G → C in OI2. Corresponds to variant dbSNP:rs72658138Ensembl.1
Natural variantiVAR_063358562G → V in OI2. 1 Publication1
Natural variantiVAR_033041564A → T1 PublicationCorresponds to variant dbSNP:rs41317153EnsemblClinVar.1
Natural variantiVAR_001869586G → R in OI2. Corresponds to variant dbSNP:rs72658139Ensembl.1
Natural variantiVAR_001870592G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658141Ensembl.1
Natural variantiVAR_063359601G → S in OI. 1 PublicationCorresponds to variant dbSNP:rs72658143EnsemblClinVar.1
Natural variantiVAR_063360625G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658145Ensembl.1
Natural variantiVAR_001871634G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658147Ensembl.1
Natural variantiVAR_001872637G → D in OI2. Corresponds to variant dbSNP:rs72658148Ensembl.1
Natural variantiVAR_001873640G → S in OI2. 1
Natural variantiVAR_001874670G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658155Ensembl.1
Natural variantiVAR_030120676 – 855Missing in OI2. 1 PublicationAdd BLAST180
Natural variantiVAR_063361676G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs66883877EnsemblClinVar.1
Natural variantiVAR_001875676G → V in OI3 and OI4. 2 PublicationsCorresponds to variant dbSNP:rs66883877EnsemblClinVar.1
Natural variantiVAR_030121678P → H5 PublicationsCorresponds to variant dbSNP:rs409108Ensembl.1
Natural variantiVAR_063362705 – 707Missing in OI2. 1 Publication3
Natural variantiVAR_001876708R → Q Found in a patient with a variant form of Marfan syndrome; unknown pathological significance. Corresponds to variant dbSNP:rs72658163EnsemblClinVar.1
Natural variantiVAR_001877715G → D in OI2. Corresponds to variant dbSNP:rs72658167Ensembl.1
Natural variantiVAR_001878730G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658171Ensembl.1
Natural variantiVAR_063363733G → C in OI1. 1 PublicationCorresponds to variant dbSNP:rs72658172Ensembl.1
Natural variantiVAR_001879736G → C in OI1; mild. 2 PublicationsCorresponds to variant dbSNP:rs72658173Ensembl.1
Natural variantiVAR_063364739G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658174Ensembl.1
Natural variantiVAR_001880743A → G3 PublicationsCorresponds to variant dbSNP:rs408535Ensembl.1
Natural variantiVAR_063365748G → V in OI2. 1 Publication1
Natural variantiVAR_001881751G → S in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658176EnsemblClinVar.1
Natural variantiVAR_063366754G → C in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658177EnsemblClinVar.1
Natural variantiVAR_001882754G → R in OI2. 1
Natural variantiVAR_001883766G → V in OI4. 1 PublicationCorresponds to variant dbSNP:rs72658183Ensembl.1
Natural variantiVAR_001884778G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658186EnsemblClinVar.1
Natural variantiVAR_001885784G → R in OI2. 1 PublicationCorresponds to variant dbSNP:rs66592844Ensembl.1
Natural variantiVAR_001886787G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658187Ensembl.1
Natural variantiVAR_001887790G → D in OI2. 2 PublicationsCorresponds to variant dbSNP:rs72658188Ensembl.1
Natural variantiVAR_001888796G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs66716547Ensembl.1
Natural variantiVAR_063367798P → PP in OI2. 1 Publication1
Natural variantiVAR_063368806 – 811Missing in OI2. 1 Publication6
Natural variantiVAR_063369811G → GPPG in OI4. 1
Natural variantiVAR_063370820G → S in OI3. 1 PublicationCorresponds to variant dbSNP:rs72658191Ensembl.1
Natural variantiVAR_001889822R → H1 PublicationCorresponds to variant dbSNP:rs1800240Ensembl.1
Natural variantiVAR_063371835G → C in OI3. 1 Publication1
Natural variantiVAR_001890835G → S in OI1. 1 PublicationCorresponds to variant dbSNP:rs72658193EnsemblClinVar.1
Natural variantiVAR_063372856G → R in OI3. 1 Publication1
Natural variantiVAR_063373856G → V in OI2. 1 Publication1
Natural variantiVAR_001891877G → C in OI2. 1 PublicationCorresponds to variant dbSNP:rs72658201Ensembl.1
Natural variantiVAR_001892892G → D in OI3 and OI4. 1 PublicationCorresponds to variant dbSNP:rs72659304Ensembl.1
Natural variantiVAR_001893895G → D in OI2. Corresponds to variant dbSNP:rs72659305Ensembl.1
Natural variantiVAR_001894949G → S in OI3; moderate. 2 PublicationsCorresponds to variant dbSNP:rs72659312Ensembl.1
Natural variantiVAR_063374955G → D in OI2. 1 Publication1
Natural variantiVAR_001895955G → S in OI2. 1 PublicationCorresponds to variant dbSNP:rs66507857Ensembl.1
Natural variantiVAR_008120973G → V in OI3. 1 PublicationCorresponds to variant dbSNP:rs67609234EnsemblClinVar.1
Natural variantiVAR_063375982G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs67422093Ensembl.1
Natural variantiVAR_063376989P → PVGP in OI4. 1
Natural variantiVAR_063377991G → V in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659316Ensembl.1
Natural variantiVAR_001896997G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs72659317Ensembl.1
Natural variantiVAR_0633781003G → D in OI2. 1 PublicationCorresponds to variant dbSNP:rs1114167414Ensembl.1
Natural variantiVAR_0018971012G → S in OI3 and OI4; moderate. 2 PublicationsCorresponds to variant dbSNP:rs72659319EnsemblClinVar.1
Natural variantiVAR_0018981022L → F3 PublicationsCorresponds to variant dbSNP:rs392609Ensembl.1
Natural variantiVAR_0633791027G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72659323Ensembl.1
Natural variantiVAR_0633801058 – 1062Missing in OI2. 1 Publication5
Natural variantiVAR_0018991066G → D in OI2. Corresponds to variant dbSNP:rs72659331Ensembl.1
Natural variantiVAR_0696331067R → H1 PublicationCorresponds to variant dbSNP:rs530026906Ensembl.1
Natural variantiVAR_0019001078G → C in OI2. 1
Natural variantiVAR_0633811087G → D in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659335Ensembl.1
Natural variantiVAR_0633821094 – 1096Missing in OI4. 1 Publication3
Natural variantiVAR_0019011096G → A in OI3. 1 PublicationCorresponds to variant dbSNP:rs72659337Ensembl.1
Natural variantiVAR_0019031101P → L. 1
Natural variantiVAR_0019021102G → R in OI4. 1 PublicationCorresponds to variant dbSNP:rs67768540Ensembl.1
Natural variantiVAR_0663861119A → T Found in a patient with mild osteogenesis imperfecta associated with increased bone mineral density; results in defective type I procollagen processing; incorporation of the immature procollagen into the matrix leads to increased bone matrix mineralization and altered collagen fibril structure. 1 Publication1
Natural variantiVAR_0019041148T → P in OI3. 1 PublicationCorresponds to variant dbSNP:rs1800250Ensembl.1
Natural variantiVAR_0019051189D → E3 PublicationsCorresponds to variant dbSNP:rs422361Ensembl.1
Natural variantiVAR_0633831195C → Y in OI1. 1 PublicationCorresponds to variant dbSNP:rs72659342Ensembl.1
Natural variantiVAR_0019061198S → P3 PublicationsCorresponds to variant dbSNP:rs384487Ensembl.1
Natural variantiVAR_0301221354Q → H7 PublicationsCorresponds to variant dbSNP:rs418570Ensembl.1

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

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EMBLi

GenBank nucleotide sequence database

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GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
J03464 mRNA Translation: AAB59374.1
Z74616 mRNA Translation: CAA98969.1
AF004877 Genomic DNA Translation: AAB93981.1
BC042586 mRNA Translation: AAH42586.1
BC054498 mRNA Translation: AAH54498.1
Y00724 mRNA Translation: CAA68709.1
X02488 mRNA Translation: CAA26320.1
AB004317 Genomic DNA Translation: BAA25383.1
M35391 Genomic DNA Translation: AAA60041.1
S98904 Genomic DNA Translation: AAB22126.1
M21671 Genomic DNA Translation: AAA59994.1
S41099 mRNA Translation: AAB22761.1
AC002528 Genomic DNA Translation: AAB69977.1
M21353 Genomic DNA Translation: AAA52053.1
M28985 Genomic DNA Translation: AAA60356.1
V00503 mRNA Translation: CAA23761.1
S96821 mRNA Translation: AAB22020.2
L47668 mRNA Translation: AAB59577.1
X55525 mRNA Translation: CAA39142.1
J00114 mRNA Translation: AAA51996.1
M22816 mRNA Translation: AAA51844.1
M22817 Genomic DNA Translation: AAA51846.1
K01078 Genomic DNA Translation: AAA51887.1
K02568 Genomic DNA Translation: AAA51850.1

The Consensus CDS (CCDS) project

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CCDSi
CCDS34682.1

Protein sequence database of the Protein Information Resource

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PIRi
A28500 CGHU2S

NCBI Reference Sequences

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RefSeqi
NP_000080.2, NM_000089.3

UniGene gene-oriented nucleotide sequence clusters

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UniGenei
Hs.489142

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000297268; ENSP00000297268; ENSG00000164692

Database of genes from NCBI RefSeq genomes

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GeneIDi
1278

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:1278

UCSC genome browser

More...
UCSCi
uc003ung.1 human

Keywords - Coding sequence diversityi

Chromosomal rearrangement, Polymorphism

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology
Osteogenesis imperfecta variant database

Collagen type I alpha 2 (COL1A2)

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
J03464 mRNA Translation: AAB59374.1
Z74616 mRNA Translation: CAA98969.1
AF004877 Genomic DNA Translation: AAB93981.1
BC042586 mRNA Translation: AAH42586.1
BC054498 mRNA Translation: AAH54498.1
Y00724 mRNA Translation: CAA68709.1
X02488 mRNA Translation: CAA26320.1
AB004317 Genomic DNA Translation: BAA25383.1
M35391 Genomic DNA Translation: AAA60041.1
S98904 Genomic DNA Translation: AAB22126.1
M21671 Genomic DNA Translation: AAA59994.1
S41099 mRNA Translation: AAB22761.1
AC002528 Genomic DNA Translation: AAB69977.1
M21353 Genomic DNA Translation: AAA52053.1
M28985 Genomic DNA Translation: AAA60356.1
V00503 mRNA Translation: CAA23761.1
S96821 mRNA Translation: AAB22020.2
L47668 mRNA Translation: AAB59577.1
X55525 mRNA Translation: CAA39142.1
J00114 mRNA Translation: AAA51996.1
M22816 mRNA Translation: AAA51844.1
M22817 Genomic DNA Translation: AAA51846.1
K01078 Genomic DNA Translation: AAA51887.1
K02568 Genomic DNA Translation: AAA51850.1
CCDSiCCDS34682.1
PIRiA28500 CGHU2S
RefSeqiNP_000080.2, NM_000089.3
UniGeneiHs.489142

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5CTDX-ray1.60B484-495[»]
5CTIX-ray1.90B484-495[»]
5CVAX-ray2.10A/D484-495[»]
ProteinModelPortaliP08123
SMRiP08123
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi107675, 23 interactors
ComplexPortaliCPX-1650 Collagen type I trimer
DIPiDIP-36079N
IntActiP08123, 23 interactors
MINTiP08123
STRINGi9606.ENSP00000297268

Chemistry databases

ChEMBLiCHEMBL2685
DrugBankiDB00048 Collagenase clostridium histolyticum

PTM databases

GlyConnecti1135
iPTMnetiP08123
PhosphoSitePlusiP08123

Polymorphism and mutation databases

BioMutaiCOL1A2
DMDMi296439507

Proteomic databases

EPDiP08123
jPOSTiP08123
MaxQBiP08123
PaxDbiP08123
PeptideAtlasiP08123
PRIDEiP08123
ProteomicsDBi52070

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000297268; ENSP00000297268; ENSG00000164692
GeneIDi1278
KEGGihsa:1278
UCSCiuc003ung.1 human

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
1278
DisGeNETi1278
EuPathDBiHostDB:ENSG00000164692.17

GeneCards: human genes, protein and diseases

More...
GeneCardsi
COL1A2
GeneReviewsiCOL1A2

H-Invitational Database, human transcriptome db

More...
H-InvDBi
HIX0006854
HGNCiHGNC:2198 COL1A2
HPAiCAB032650
HPA059738
MalaCardsiCOL1A2
MIMi120160 gene
166200 phenotype
166210 phenotype
166220 phenotype
225320 phenotype
259420 phenotype
617821 phenotype
neXtProtiNX_P08123
OpenTargetsiENSG00000164692
Orphaneti99876 Ehlers-Danlos syndrome type 7B
230851 Ehlers-Danlos syndrome, cardiac valvular type
230857 Ehlers-Danlos/osteogenesis imperfecta syndrome
314029 High bone mass osteogenesis imperfecta
216796 Osteogenesis imperfecta type 1
216804 Osteogenesis imperfecta type 2
216812 Osteogenesis imperfecta type 3
216820 Osteogenesis imperfecta type 4
PharmGKBiPA35042

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG3544 Eukaryota
ENOG410XNMM LUCA
GeneTreeiENSGT00940000155639
HOVERGENiHBG004933
InParanoidiP08123
KOiK06236
OMAiPTGKHGN
OrthoDBi1406711at2759
PhylomeDBiP08123
TreeFamiTF344135

Enzyme and pathway databases

ReactomeiR-HSA-114604 GPVI-mediated activation cascade
R-HSA-1442490 Collagen degradation
R-HSA-1474244 Extracellular matrix organization
R-HSA-1650814 Collagen biosynthesis and modifying enzymes
R-HSA-198933 Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell
R-HSA-2022090 Assembly of collagen fibrils and other multimeric structures
R-HSA-202733 Cell surface interactions at the vascular wall
R-HSA-216083 Integrin cell surface interactions
R-HSA-2214320 Anchoring fibril formation
R-HSA-2243919 Crosslinking of collagen fibrils
R-HSA-3000170 Syndecan interactions
R-HSA-3000171 Non-integrin membrane-ECM interactions
R-HSA-3000178 ECM proteoglycans
R-HSA-3000480 Scavenging by Class A Receptors
R-HSA-430116 GP1b-IX-V activation signalling
R-HSA-6785807 Interleukin-4 and Interleukin-13 signaling
R-HSA-75892 Platelet Adhesion to exposed collagen
R-HSA-76009 Platelet Aggregation (Plug Formation)
R-HSA-8874081 MET activates PTK2 signaling
R-HSA-8948216 Collagen chain trimerization
SIGNORiP08123

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
COL1A2 human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
COL1A2

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
1278

Protein Ontology

More...
PROi
PR:P08123

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000164692 Expressed in 238 organ(s), highest expression level in tibia
ExpressionAtlasiP08123 baseline and differential
GenevisibleiP08123 HS

Family and domain databases

InterProiView protein in InterPro
IPR008160 Collagen
IPR000885 Fib_collagen_C
PfamiView protein in Pfam
PF01410 COLFI, 1 hit
PF01391 Collagen, 6 hits
ProDomiView protein in ProDom or Entries sharing at least one domain
PD002078 Fib_collagen_C, 1 hit
SMARTiView protein in SMART
SM00038 COLFI, 1 hit
PROSITEiView protein in PROSITE
PS51461 NC1_FIB, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

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ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiCO1A2_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: P08123
Secondary accession number(s): P02464
, Q13897, Q13997, Q13998, Q14038, Q14057, Q15177, Q15947, Q16480, Q16511, Q7Z5S6, Q9UEB6, Q9UEF9, Q9UM83, Q9UMI1, Q9UML5, Q9UMM6, Q9UPH0
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 1, 1988
Last sequence update: May 18, 2010
Last modified: January 16, 2019
This is version 217 of the entry and version 7 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Direct protein sequencing, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 7
    Human chromosome 7: entries, gene names and cross-references to MIM
  3. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  4. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  5. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  6. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
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