InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL1A2

Summary

InnateDB Protein

IDBP-27321.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

COL1A2

Protein Name

collagen, type I, alpha 2

Synonyms

OI4;

Species

Homo sapiens

Ensembl Protein

ENSP00000297268

InnateDB Gene

IDBG-27319 (COL1A2)

Protein Structure

UniProt Annotation

Function

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

Subcellular Localization

Secreted, extracellular space, extracellular matrix {ECO:0000255PROSITE-ProRule:PRU00793}.

Disease Associations

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:0000269PubMed:1577745, ECO:0000269PubMed:2394758, ECO:0000269PubMed:3680255}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:16705691, ECO:0000269PubMed:16786509, ECO:0000269PubMed:1990009, ECO:0000269PubMed:8456807, ECO:0000269PubMed:8829649}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:10627137, ECO:0000269PubMed:1284475, ECO:0000269PubMed:1339453, ECO:0000269PubMed:1385413, ECO:0000269PubMed:16786509, ECO:0000269PubMed:16879195, ECO:0000269PubMed:1874719, ECO:0000269PubMed:18996919, ECO:0000269PubMed:2777764, ECO:0000269PubMed:2914942, ECO:0000269PubMed:7693712, ECO:0000269PubMed:7891382, ECO:0000269PubMed:7906591, ECO:0000269PubMed:7959683, ECO:0000269PubMed:8182080, ECO:0000269Ref.31}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:16816023}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:10408781, ECO:0000269PubMed:16786509, ECO:0000269PubMed:16879195, ECO:0000269PubMed:1990009, ECO:0000269PubMed:7520724, ECO:0000269PubMed:7720740, ECO:0000269PubMed:7749416, ECO:0000269PubMed:7860070, ECO:0000269PubMed:7881420, ECO:0000269PubMed:8081394, ECO:0000269PubMed:8444468, ECO:0000269PubMed:8456807, ECO:0000269PubMed:8723681, ECO:0000269PubMed:8800927, ECO:0000269PubMed:8829649}. Note=The disease is caused by mutations affecting the gene represented in this entry.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:0000269PubMed:1642148, ECO:0000269PubMed:16786509, ECO:0000269PubMed:16879195, ECO:0000269PubMed:2052622, ECO:0000269PubMed:2064612, ECO:0000269PubMed:2897363, ECO:0000269PubMed:7693712, ECO:0000269PubMed:8094076, ECO:0000269PubMed:8401517, ECO:0000269PubMed:8800927}. Note=The disease is caused by mutations affecting the gene represented in this entry.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.

Tissue Specificity

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

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 22 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.

Experimentally validated
Total	22 [view]
Protein-Protein	12 [view]
Protein-DNA	10 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	1 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0005515	protein binding
GO:0030674	protein binding, bridging
GO:0042802	identical protein binding
GO:0046332	SMAD binding
GO:0046872	metal ion binding
GO:0048407	platelet-derived growth factor binding

Biological Process

GO:0001501	skeletal system development
GO:0001568	blood vessel development
GO:0007179	transforming growth factor beta receptor signaling pathway
GO:0007266	Rho protein signal transduction
GO:0007596	blood coagulation
GO:0008217	regulation of blood pressure
GO:0022617	extracellular matrix disassembly
GO:0030168	platelet activation
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0030574	collagen catabolic process
GO:0042476	odontogenesis
GO:0043589	skin morphogenesis
GO:0050900	leukocyte migration
GO:0070208	protein heterotrimerization
GO:0071230	cellular response to amino acid stimulus

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005584	collagen type I
GO:0005615	extracellular space
GO:0005788	endoplasmic reticulum lumen
GO:0031012	extracellular matrix
GO:0070062	extracellular vesicular exosome

Protein Structure and Domains

PDB ID

InterPro

IPR000885 Fibrillar collagen, C-terminal
IPR002181 Fibrinogen, alpha/beta/gamma chain, C-terminal globular domain
IPR008160 Collagen triple helix repeat

PFAM

PF01410
PF00147
PF01391

PRINTS

PIRSF

SMART

SM00038
SM00186

TIGRFAMs

Post-translational Modifications

Modification

Cross-References

SwissProt

P08123