COL1A2
entrez
1278
canonical
uniprot
P08123
canonical
ensembl
ENSG00000164692
resolver
ensp
ENSP00000297268
resolver
enst
ENST00000297268
resolver
genesymbol
COL1A2
resolver
hgnc
HGNC:2198
resolver
uniprot
A0A0S2Z3H5
resolver
uniprot
P02464
resolver
uniprot
Q13897
resolver
uniprot
Q13997
resolver
uniprot
Q13998
resolver
uniprot
Q14038
resolver
uniprot
Q14057
resolver
uniprot
Q15177
resolver
uniprot
Q15947
resolver
uniprot
Q16480
resolver
uniprot
Q16511
resolver
uniprot
Q7Z5S6
resolver
uniprot
Q9UEB6
resolver
uniprot
Q9UEF9
resolver
uniprot
Q9UM83
resolver
uniprot
Q9UMI1
resolver
uniprot
Q9UML5
resolver
uniprot
Q9UMM6
resolver
uniprot
Q9UPH0
resolver
uniprot_entry
A0A0S2Z3H5_HUMAN
resolver
uniprot_entry
CO1A2_HUMAN
resolver
uniprot_sec
P02464
resolver
uniprot_sec
Q13897
resolver
uniprot_sec
Q13997
resolver
uniprot_sec
Q13998
resolver
uniprot_sec
Q14038
resolver
uniprot_sec
Q14057
resolver
uniprot_sec
Q15177
resolver
uniprot_sec
Q15947
resolver
uniprot_sec
Q16480
resolver
uniprot_sec
Q16511
resolver
uniprot_sec
Q7Z5S6
resolver
uniprot_sec
Q9UEB6
resolver
uniprot_sec
Q9UEF9
resolver
uniprot_sec
Q9UM83
resolver
uniprot_sec
Q9UMI1
resolver
uniprot_sec
Q9UML5
resolver
uniprot_sec
Q9UMM6
resolver
uniprot_sec
Q9UPH0
resolver
amino_acid_sequence
MLSFVDTRTLLLLAVTLCLATCQSLQEETVRKGPAGDRGPRGERGPPGPPGRDGEDGPTGPPGPPGPPGPPGLGGNFAAQYDGKGVGLGPGPMGLMGPRGPPGAAGAPGPQGFQGPAGEPGEPGQTGPAGARGPAGPPGKAGEDGHPGKPGRPGERGVVGPQGARGFPGTPGLPGFKGIRGHNGLDGLKGQPGAPGVKGEPGAPGENGTPGQTGARGLPGERGRVGAPGPAGARGSDGSVGPVGPAGPIGSAGPPGFPGAPGPKGEIGAVGNAGPAGPAGPRGEVGLPGLSGPVGPPGNPGANGLTGAKGAAGLPGVAGAPGLPGPRGIPGPVGAAGATGARGLVGEPGPAGSKGESGNKGEPGSAGPQGPPGPSGEEGKRGPNGEAGSAGPPGPPGLRGSPGSRGLPGADGRAGVMGPPGSRGASGPAGVRGPNGDAGRPGEPGLMGPRGLPGSPGNIGPAGKEGPVGLPGIDGRPGPIGPAGARGEPGNIGFPGPKGPTGDPGKNGDKGHAGLAGARGAPGPDGNNGAQGPPGPQGVQGGKGEQGPPGPPGFQGLPGPSGPAGEVGKPGERGLHGEFGLPGPAGPRGERGPPGESGAAGPTGPIGSRGPSGPPGPDGNKGEPGVVGAVGTAGPSGPSGLPGERGAAGIPGGKGEKGEPGLRGEIGNPGRDGARGAPGAVGAPGPAGATGDRGEAGAAGPAGPAGPRGSPGERGEVGPAGPNGFAGPAGAAGQPGAKGERGAKGPKGENGVVGPTGPVGAAGPAGPNGPPGPAGSRGDGGPPGMTGFPGAAGRTGPPGPSGISGPPGPPGPAGKEGLRGPRGDQGPVGRTGEVGAVGPPGFAGEKGPSGEAGTAGPPGTPGPQGLLGAPGILGLPGSRGERGLPGVAGAVGEPGPLGIAGPPGARGPPGAVGSPGVNGAPGEAGRDGNPGNDGPPGRDGQPGHKGERGYPGNIGPVGAAGAPGPHGPVGPAGKHGNRGETGPSGPVGPAGAVGPRGPSGPQGIRGDKGEPGEKGPRGLPGLKGHNGLQGLPGIAGHHGDQGAPGSVGPAGPRGPAGPSGPAGKDGRTGHPGTVGPAGIRGPQGHQGPAGPPGPPGPPGPPGVSGGGYDFGYDGDFYRADQPRSAPSLRPKDYEVDATLKSLNNQIETLLTPEGSRKNPARTCRDLRLSHPEWSSGYYWIDPNQGCTMDAIKVYCDFSTGETCIRAQPENIPAKNWYRSSKDKKHVWLGETINAGSQFEYNVEGVTSKEMATQLAFMRLLANYASQNITYHCKNSIAYMDEETGNLKKAVILQGSNDVELVAEGNSRFTYTVLVDGCSKKTNEWGKTIIEYKTNKPSRLPFLDIAPLDIGGADQEFFVDIGPVCFK
uniprot
proteins
disease_involvement
DISEASE: Ehlers-Danlos syndrome, arthrochalasia type, 2 (EDSARTH2) [MIM:617821]: A 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. {ECO:0000269|PubMed:1577745, ECO:0000269|PubMed:2394758, ECO:0000269|PubMed:3680255}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteogenesis imperfecta 1 (OI1) [MIM:166200]: An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation characterized by bone 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 variants affecting the gene represented in this entry.; DISEASE: Osteogenesis imperfecta 2 (OI2) [MIM:166210]: An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation 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:1301191, ECO:0000269|PubMed:1339453, ECO:0000269|PubMed:1385413, ECO:0000269|PubMed:16786509, ECO:0000269|PubMed:16879195, ECO:0000269|PubMed:1696002, ECO:0000269|PubMed:17078022, ECO:0000269|PubMed:1874719, ECO:0000269|PubMed:18996919, ECO:0000269|PubMed:21239989, ECO:0000269|PubMed:21344539, 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|PubMed:9923651, ECO:0000269|Ref.35}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Ehlers-Danlos syndrome, cardiac valvular type (EDSCV) [MIM:225320]: A 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. {ECO:0000269|PubMed:16816023}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: Osteogenesis imperfecta 3 (OI3) [MIM:259420]: An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation 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:27509835, 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 variants affecting the gene represented in this entry.; DISEASE: Osteogenesis imperfecta 4 (OI4) [MIM:166220]: An autosomal dominant form of osteogenesis imperfecta, a disorder of bone formation 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 variants affecting the gene represented in this entry.; DISEASE: Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OIEDS2) [MIM:619120]: An autosomal dominant connective tissue disorder characterized by osteopenia, bone fragility, long bone fractures, blue sclerae, joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, and vascular fragility. {ECO:0000269|PubMed:23692737}. Note=The disease is caused by variants 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.
uniprot
proteins
function
FUNCTION: Type I collagen is a member of group I collagen (fibrillar forming collagen).
uniprot
proteins
mass_dalton
129314
uniprot
proteins
post_translational_modification
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}.
uniprot
proteins
protein_family
Fibrillar collagen family
uniprot
proteins
pubmed
10408781
uniprot
proteins
pubmed
10627137
uniprot
proteins
pubmed
10987300
uniprot
proteins
pubmed
1284475
uniprot
proteins
pubmed
1301191
uniprot
proteins
pubmed
1339453
uniprot
proteins
pubmed
1385413
uniprot
proteins
pubmed
15077201
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
1577745
uniprot
proteins
pubmed
1642148
uniprot
proteins
pubmed
16705691
uniprot
proteins
pubmed
16786509
uniprot
proteins
pubmed
16816023
uniprot
proteins
pubmed
16879195
uniprot
proteins
pubmed
1696002
uniprot
proteins
pubmed
17078022
uniprot
proteins
pubmed
18272325
uniprot
proteins
pubmed
1874719
uniprot
proteins
pubmed
1895312
uniprot
proteins
pubmed
18996919
uniprot
proteins
pubmed
1990009
uniprot
proteins
pubmed
2010058
uniprot
proteins
pubmed
2052622
uniprot
proteins
pubmed
2064612
uniprot
proteins
pubmed
21239989
uniprot
proteins
pubmed
21344539
uniprot
proteins
pubmed
22905912
uniprot
proteins
pubmed
2364107
uniprot
proteins
pubmed
23656646
uniprot
proteins
pubmed
23692737
uniprot
proteins
pubmed
2394758
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
27509835
uniprot
proteins
pubmed
2777764
uniprot
proteins
pubmed
2824475
uniprot
proteins
pubmed
2839839
uniprot
proteins
pubmed
2897363
uniprot
proteins
pubmed
2914942
uniprot
proteins
pubmed
32095531
uniprot
proteins
pubmed
3403536
uniprot
proteins
pubmed
3421913
uniprot
proteins
pubmed
3680255
uniprot
proteins
pubmed
4011429
uniprot
proteins
pubmed
4319110
uniprot
proteins
pubmed
4412529
uniprot
proteins
pubmed
5529814
uniprot
proteins
pubmed
6092353
uniprot
proteins
pubmed
6267597
uniprot
proteins
pubmed
6309769
uniprot
proteins
pubmed
6321602
uniprot
proteins
pubmed
6687691
uniprot
proteins
pubmed
7520724
uniprot
proteins
pubmed
7693712
uniprot
proteins
pubmed
7720740
uniprot
proteins
pubmed
7749416
uniprot
proteins
pubmed
7860070
uniprot
proteins
pubmed
7881420
uniprot
proteins
pubmed
7891382
uniprot
proteins
pubmed
7906591
uniprot
proteins
pubmed
7959683
uniprot
proteins
pubmed
8081394
uniprot
proteins
pubmed
8094076
uniprot
proteins
pubmed
8182080
uniprot
proteins
pubmed
8401517
uniprot
proteins
pubmed
8444468
uniprot
proteins
pubmed
8456807
uniprot
proteins
pubmed
8456808
uniprot
proteins
pubmed
8723681
uniprot
proteins
pubmed
8800927
uniprot
proteins
pubmed
8829649
uniprot
proteins
pubmed
9016532
uniprot
proteins
pubmed
9101290
uniprot
proteins
pubmed
9443882
uniprot
proteins
pubmed
9923651
uniprot
proteins
sequence_length
1366
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Secreted, extracellular space, extracellular matrix {ECO:0000255|PROSITE-ProRule:PRU00793}.
uniprot
proteins