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MGP000615

UniProt Annotations

Entry Information

Gene Name	collagen, type I, alpha 2
Protein Entry	CO1A2_HUMAN
UniProt ID	P08123
Species	Human

Comments

Comment type	Description
Disease	Ehlers-Danlos syndrome 7B (EDS7B) [MIM:130060]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. Marked by bilateral congenital hip dislocation, hyperlaxity of the joints, and recurrent partial dislocations. {ECO:0000269\|PubMed:1577745, ECO:0000269\|PubMed:2394758, ECO:0000269\|PubMed:3680255}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form (EDSCV) [MIM:225320]: A connective tissue disorder characterized by hyperextensible skin, atrophic cutaneous scars due to tissue fragility and joint hyperlaxity. In addition to joint laxity, skin hyperextensibility and friability, and abnormal scar formation, patients have mitral valve prolapse and insufficiency, mitral regurgitation, and aortic insufficiency. {ECO:0000269\|PubMed:16816023}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Note=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.
Disease	Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An 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. {ECO:0000269\|PubMed:16705691, ECO:0000269\|PubMed:16786509, ECO:0000269\|PubMed:1990009, ECO:0000269\|PubMed:8456807, ECO:0000269\|PubMed:8829649}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An 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. {ECO:0000269\|PubMed:10627137, ECO:0000269\|PubMed:1284475, ECO:0000269\|PubMed:1339453, ECO:0000269\|PubMed:1385413, ECO:0000269\|PubMed:16786509, ECO:0000269\|PubMed:16879195, ECO:0000269\|PubMed:1874719, ECO:0000269\|PubMed:18996919, ECO:0000269\|PubMed:2777764, ECO:0000269\|PubMed:2914942, ECO:0000269\|PubMed:7693712, ECO:0000269\|PubMed:7891382, ECO:0000269\|PubMed:7906591, ECO:0000269\|PubMed:7959683, ECO:0000269\|PubMed:8182080, ECO:0000269\|Ref.31}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An 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. {ECO:0000269\|PubMed:10408781, ECO:0000269\|PubMed:16786509, ECO:0000269\|PubMed:16879195, ECO:0000269\|PubMed:1990009, ECO:0000269\|PubMed:7520724, ECO:0000269\|PubMed:7720740, ECO:0000269\|PubMed:7749416, ECO:0000269\|PubMed:7860070, ECO:0000269\|PubMed:7881420, ECO:0000269\|PubMed:8081394, ECO:0000269\|PubMed:8444468, ECO:0000269\|PubMed:8456807, ECO:0000269\|PubMed:8723681, ECO:0000269\|PubMed:8800927, ECO:0000269\|PubMed:8829649}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An 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. {ECO:0000269\|PubMed:1642148, ECO:0000269\|PubMed:16786509, ECO:0000269\|PubMed:16879195, ECO:0000269\|PubMed:2052622, ECO:0000269\|PubMed:2064612, ECO:0000269\|PubMed:2897363, ECO:0000269\|PubMed:7693712, ECO:0000269\|PubMed:8094076, ECO:0000269\|PubMed:8401517, ECO:0000269\|PubMed:8800927}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Domain	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). {ECO:0000250}.
Function	Type I collagen is a member of group I collagen (fibrillar forming collagen).
Ptm	Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains. {ECO:0000269\|PubMed:4412529}.
Similarity	Belongs to the fibrillar collagen family. {ECO:0000255\|PROSITE-ProRule:PRU00793}.
Similarity	Contains 1 fibrillar collagen NC1 domain. {ECO:0000255\|PROSITE-ProRule:PRU00793}.
Subcellular Location	Secreted, extracellular space, extracellular matrix {ECO:0000255\|PROSITE-ProRule:PRU00793}.
Subunit	Trimers of one alpha 2(I) and two alpha 1(I) chains.
Tissue Specificity	Forms the fibrils of tendon, ligaments and bones. In bones the fibrils are mineralized with calcium hydroxyapatite.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/COL1A2ID411ch7q22.html";
Web Resource	Name=Osteogenesis imperfecta variant database; Note=Collagen type I alpha 2 (COL1A2); URL="http://oi.gene.le.ac.uk/home.php?select_db=COL1A2";