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UniProtKB - P08123 (CO1A2_HUMAN)

Entry version 231 (02 Dec 2020)
Sequence version 7 (18 May 2010)
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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 <a href="http://www.uniprot.org/help/function%5Fsection">Function</a> 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

Complete GO annotation on QuickGO ...

GO - Biological processi

Complete GO annotation on QuickGO ...

<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

Pathway Commons web resource for biological pathway data

More...PathwayCommonsi		P08123

Reactome - a knowledgebase of biological pathways and processes

More...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

More...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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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%5Fand%5Ftaxonomy%5Fsection">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 lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
<p>This subsection of the <a href="http://www.uniprot.org/help/names%5Fand%5Ftaxonomy%5Fsection">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%5Fmanual">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 and Host Database Resources

More...EuPathDBi		HostDB:ENSG00000164692.17

Human Gene Nomenclature Database

More...HGNCi		HGNC:2198, COL1A2

Online Mendelian Inheritance in Man (OMIM)

More...MIMi		120160, gene

neXtProt; the human protein knowledge platform

More...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 & Seán O’Donoghue; 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.
Related information in OMIM
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.
Related information in OMIM
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.
Related information in OMIM
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:rs72659305EnsemblClinVar.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:rs1114167414EnsemblClinVar.1
Natural variantiVAR_0633791027G → E in OI2. 1 PublicationCorresponds to variant dbSNP:rs72659323EnsemblClinVar.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.
Related information in OMIM
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.
Related information in OMIM
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:rs72659312EnsemblClinVar.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.
Related information in OMIM
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

More...DisGeNETi		1278

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

More...GeneReviewsi		COL1A2

MalaCards human disease database

More...MalaCardsi		COL1A2
MIMi166200, phenotype
166210, phenotype
166220, phenotype
225320, phenotype
259420, phenotype
617821, phenotype

Open Targets

More...OpenTargetsi		ENSG00000164692

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

More...Orphaneti		1899, Arthrochalasia Ehlers-Danlos syndrome
230851, Cardiac-valvular Ehlers-Danlos syndrome
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

More...PharmGKBi		PA35042

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

More...Pharosi		P08123, Tbio

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

More...ChEMBLi		CHEMBL2685

Drug and drug target database

More...DrugBanki		DB00048, Collagenase clostridium histolyticum

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...BioMutai		COL1A2

Domain mapping of disease mutations (DMDM)

More...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%5Fprocessing%5Fsection">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 or proteolytic cleavage.<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%5Fprocessing%5Fsection">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%5Fprocessing%5Fsection">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

More...jPOSTi		P08123

MassIVE - Mass Spectrometry Interactive Virtual Environment

More...MassIVEi		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

More...PRIDEi		P08123

ProteomicsDB: a multi-organism proteome resource

More...ProteomicsDBi		52070

PTM databases

GlyConnect protein glycosylation platform

More...GlyConnecti		1135, 7 N-Linked glycans (1 site)

GlyGen: Computational and Informatics Resources for Glycoscience

More...GlyGeni		P08123, 4 sites, 1 O-linked glycan (2 sites)

iPTMnet integrated resource for PTMs in systems biology context

More...iPTMneti		P08123

MetOSite database of methionine sulfoxide sites

More...MetOSitei		P08123

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

More...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 tibia and 248 other tissues

ExpressionAtlas, Differential and Baseline Expression

More...ExpressionAtlasi		P08123, baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

More...Genevisiblei		P08123, HS

Organism-specific databases

Human Protein Atlas

More...HPAi		ENSG00000164692, Tissue enhanced (enhanced)

<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%5Fsection">'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%5Fsection">'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%5Fsection">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="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

Hide details

GO - Molecular functioni

Complete GO annotation on QuickGO ...

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGRID)

More...BioGRIDi		107675, 31 interactors

ComplexPortal: manually curated resource of macromolecular complexes

More...ComplexPortali		CPX-1650, Collagen type I trimer

Database of interacting proteins

More...DIPi		DIP-36079N

Protein interaction database and analysis system

More...IntActi		P08123, 28 interactors

Molecular INTeraction database

More...MINTi		P08123

STRING: functional protein association networks

More...STRINGi		9606.ENSP00000297268

Miscellaneous databases

RNAct, Protein-RNA interaction predictions for model organisms.

More...RNActi		P08123, protein

<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

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

More...SMRi		P08123

Database of comparative protein structure models

More...ModBasei		Search...

Protein Data Bank in Europe - Knowledge Base

More...PDBe-KBi		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%5Fand%5Fdomains%5Fsection">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

Ensembl GeneTree

More...GeneTreei		ENSGT00940000155639

InParanoid: Eukaryotic Ortholog Groups

More...InParanoidi		P08123

Identification of Orthologs from Complete Genome Data

More...OMAi		GLFMNGG

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

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%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">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:2 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:rs72659305EnsemblClinVar.1
Natural variantiVAR_001894949G → S in OI3; moderate. 2 PublicationsCorresponds to variant dbSNP:rs72659312EnsemblClinVar.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:rs1114167414EnsemblClinVar.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:rs72659323EnsemblClinVar.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

More...EMBLi

GenBank nucleotide sequence database

More...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

More...CCDSi		CCDS34682.1

Protein sequence database of the Protein Information Resource

More...PIRi		A28500, CGHU2S

NCBI Reference Sequences

More...RefSeqi		NP_000080.2, NM_000089.3

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...Ensembli		ENST00000297268; ENSP00000297268; ENSG00000164692

Database of genes from NCBI RefSeq genomes

More...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%5Freferences%5Fsection">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

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[»]
6JECX-ray2.05A/B/C45-72[»]
SMRiP08123
ModBaseiSearch...
PDBe-KBiSearch...

Protein-protein interaction databases

BioGRIDi107675, 31 interactors
ComplexPortaliCPX-1650, Collagen type I trimer
DIPiDIP-36079N
IntActiP08123, 28 interactors
MINTiP08123
STRINGi9606.ENSP00000297268

Chemistry databases

ChEMBLiCHEMBL2685
DrugBankiDB00048, Collagenase clostridium histolyticum

PTM databases

GlyConnecti1135, 7 N-Linked glycans (1 site)
GlyGeniP08123, 4 sites, 1 O-linked glycan (2 sites)
iPTMnetiP08123
MetOSiteiP08123
PhosphoSitePlusiP08123

Polymorphism and mutation databases

BioMutaiCOL1A2
DMDMi296439507

Proteomic databases

EPDiP08123
jPOSTiP08123
MassIVEiP08123
MaxQBiP08123
PaxDbiP08123
PeptideAtlasiP08123
PRIDEiP08123
ProteomicsDBi52070

Protocols and materials databases

Antibodypedia a portal for validated antibodies

More...Antibodypediai		15754, 392 antibodies

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
HGNCiHGNC:2198, COL1A2
HPAiENSG00000164692, Tissue enhanced (enhanced)
MalaCardsiCOL1A2
MIMi120160, gene
166200, phenotype
166210, phenotype
166220, phenotype
225320, phenotype
259420, phenotype
617821, phenotype
neXtProtiNX_P08123
OpenTargetsiENSG00000164692
Orphaneti1899, Arthrochalasia Ehlers-Danlos syndrome
230851, Cardiac-valvular Ehlers-Danlos syndrome
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
GeneTreeiENSGT00940000155639
InParanoidiP08123
OMAiGLFMNGG
OrthoDBi1406711at2759
PhylomeDBiP08123
TreeFamiTF344135

Enzyme and pathway databases

PathwayCommonsiP08123
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

BioGRID ORCS database of CRISPR phenotype screens

More...BioGRID-ORCSi		1278, 6 hits in 846 CRISPR screens

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
PharosiP08123, Tbio

Protein Ontology

More...PROi		PR:P08123
RNActiP08123, protein

The Stanford Online Universal Resource for Clones and ESTs

More...SOURCEi		Search...

Gene expression databases

BgeeiENSG00000164692, Expressed in tibia and 248 other tissues
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
P