InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Protein: COL2A1

Summary

InnateDB Protein

IDBP-29359.7

Last Modified

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

Gene Symbol

COL2A1

Protein Name

collagen, type II, alpha 1

Synonyms

ANFH; AOM; COL11A3; SEDC; STL1;

Species

Homo sapiens

Ensembl Protein

ENSP00000338213

InnateDB Gene

IDBG-29355 (COL2A1)

Protein Structure

UniProt Annotation

Function

Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.

Subcellular Localization

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

Disease Associations

Spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]: Disorder characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems. {ECO:0000269PubMed:10678662, ECO:0000269PubMed:11746045, ECO:0000269PubMed:2339128, ECO:0000269PubMed:2543071, ECO:0000269PubMed:7757086, ECO:0000269PubMed:8019561, ECO:0000269PubMed:8325895, ECO:0000269PubMed:8423604}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK) [MIM:184250]: A bone disease characterized by disproportionate short stature from birth, with a very short trunk and shortened limbs, and skeletal abnormalities including lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses. A distinctive radiographic feature is irregular sclerotic changes, described as dappled in the metaphyses of the long bones. {ECO:0000269PubMed:16088915, ECO:0000269PubMed:7550321, ECO:0000269Ref.38}. Note=The disease is caused by mutations affecting the gene represented in this entry.Achondrogenesis 2 (ACG2) [MIM:200610]: A disease characterized by the absence of ossification in the vertebral column, sacrum and pubic bones. {ECO:0000269PubMed:10745044, ECO:0000269PubMed:10797431, ECO:0000269PubMed:17994563, ECO:0000269PubMed:2572591, ECO:0000269PubMed:7757081, ECO:0000269PubMed:7757086, ECO:0000269PubMed:7829510}. Note=The disease is caused by mutations affecting the gene represented in this entry.Legg-Calve-Perthes disease (LCPD) [MIM:150600]: Characterized by loss of circulation to the femoral head, resulting in avascular necrosis in a growing child. Clinical pictures of the disease vary, depending on the phase of disease progression through ischemia, revascularization, fracture and collapse, and repair and remodeling of the bone. {ECO:0000269PubMed:17394019}. Note=The disease is caused by mutations affecting the gene represented in this entry.Kniest dysplasia (KD) [MIM:156550]: Moderately severe chondrodysplasia phenotype that results from mutations in the COL2A1 gene. Characteristics of the disorder include a short trunk and extremities, mid-face hypoplasia, cleft palate, myopia, retinal detachment, and hearing loss. {ECO:0000269PubMed:7874117, ECO:0000269PubMed:8863156}. Note=The disease is caused by mutations affecting the gene represented in this entry.Primary avascular necrosis of femoral head (ANFH) [MIM:608805]: Causes disability that often requires surgical intervention. Most cases are sporadic, but families in which there is an autosomal dominant inheritance of the disease have been identified. It has been estimated that 300,000 to 600,000 people in the United States have ANFH. Approximately 15,000 new cases of this common and disabling disorder are reported annually. The age at the onset is earlier than that for osteoarthritis. The diagnosis is typically made when patients are between the ages of 30 and 60 years. The clinical manifestations, such as pain on exertion, a limping gait, and a discrepancy in leg length, cause considerable disability. Moreover, nearly 10 percent of the 500,000 total-hip arthroplasties performed each year in the United States involve patients with ANFH. As a result, this disease creates a substantial socioeconomic cost as well as a burden for patients and their families. {ECO:0000269PubMed:15930420}. Note=The disease is caused by mutations affecting the gene represented in this entry.Osteoarthritis with mild chondrodysplasia (OACD) [MIM:604864]: Osteoarthritis is a common disease that produces joint pain and stiffness together with radiologic evidence of progressive degeneration of joint cartilage. {ECO:0000269PubMed:1975693, ECO:0000269PubMed:1985108, ECO:0000269PubMed:7757086, ECO:0000269PubMed:8507190}. Note=The disease is caused by mutations affecting the gene represented in this entry.Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T) [MIM:151210]: Platyspondylic lethal skeletal dysplasias (PLSDs) are a heterogeneous group of chondrodysplasias characterized by severe platyspondyly and limb shortening. PLSD-T is characterized by varying platyspondyly, short ribs with anterior cupping, hypoplasia of the lower ilia with broad ischial and pubic bones, and shortening of the tubular bones with splayed and cupped metaphyses. Histology of the growth plate typically shows focal hypercellularity with slightly enlarged chondrocytes in the resting cartilage and relatively well-preserved columnar formation and ossification at the chondro-osseous junction. PLSD-T is generally a perinatally lethal disease, but a few long-term survivors have been reported. {ECO:0000269PubMed:10745044, ECO:0000269PubMed:14729840, ECO:0000269PubMed:15643621}. Note=The disease is caused by mutations affecting the gene represented in this entry.Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD) [MIM:132450]: A generalized skeletal dysplasia associated with significant morbidity. Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. EDMMD is an autosomal dominant disorder characterized by epiphyseal dysplasia associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness. {ECO:0000269PubMed:9800905}. Note=The disease is caused by mutations affecting the gene represented in this entry.Spondyloperipheral dysplasia (SPD) [MIM:271700]: SPD patients manifest short stature, midface hypoplasia, sensorineural hearing loss, spondyloepiphyseal dysplasia, platyspondyly and brachydactyly. {ECO:0000269PubMed:15316962}. Note=The disease is caused by mutations affecting the gene represented in this entry.Stickler syndrome 1 (STL1) [MIM:108300]: An autosomal dominant form of Stickler syndrome, an inherited disorder that associates ocular signs with more or less complete forms of Pierre Robin sequence, bone disorders and sensorineural deafness. Ocular disorders may include juvenile cataract, myopia, strabismus, vitreoretinal or chorioretinal degeneration, retinal detachment, and chronic uveitis. Robin sequence includes an opening in the roof of the mouth (a cleft palate), a large tongue (macroglossia), and a small lower jaw (micrognathia). Bones are affected by slight platyspondylisis and large, often defective epiphyses. Juvenile joint laxity is followed by early signs of arthrosis. The degree of hearing loss varies among affected individuals and may become more severe over time. Syndrome expressivity is variable. {ECO:0000269PubMed:11007540, ECO:0000269PubMed:20513134, ECO:0000269PubMed:7977371}. Note=The disease is caused by mutations affecting the gene represented in this entry.Stickler syndrome 1 non-syndromic ocular (STL1O) [MIM:609508]: An autosomal dominant form of Stickler syndrome characterized by the ocular signs typically seen in Stickler syndrome type 1 such as cataract, myopia, retinal detachment. Systemic features of premature osteoarthritis, cleft palate, hearing impairment, and craniofacial abnormalities are either absent or very mild. {ECO:0000269PubMed:16752401, ECO:0000269PubMed:17721977, ECO:0000269PubMed:8317498}. Note=The disease is caused by mutations affecting the gene represented in this entry.Rhegmatogenous retinal detachment autosomal dominant (DRRD) [MIM:609508]: A eye disease that most frequently results from a break or tear in the retina that allows fluid from the vitreous humor to enter the potential space beneath the retina. It is often associated with pathologic myopia and in most cases leads to visual impairment or blindness if untreated. {ECO:0000269PubMed:11007540, ECO:0000269PubMed:15671297}. Note=The disease is caused by mutations affecting the gene represented in this entry.Czech dysplasia (CZECHD) [MIM:609162]: A skeletal dysplasia characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and short third and fourth toes. {ECO:0000269PubMed:18553548, ECO:0000269PubMed:19764028, ECO:0000269PubMed:7757086, ECO:0000269PubMed:8244341}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Tissue Specificity

Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte. {ECO:0000269PubMed:2355003}.

Comments

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.

Experimentally validated
Total	17 [view]
Protein-Protein	17 [view]
Protein-DNA	0
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Gene Ontology

Molecular Function

Accession	GO Term
GO:0005201	extracellular matrix structural constituent
GO:0030020	extracellular matrix structural constituent conferring tensile strength
GO:0042802	identical protein binding
GO:0046872	metal ion binding
GO:0048407	platelet-derived growth factor binding

Biological Process

GO:0001501	skeletal system development
GO:0007411	axon guidance
GO:0007601	visual perception
GO:0007605	sensory perception of sound
GO:0022617	extracellular matrix disassembly
GO:0030198	extracellular matrix organization
GO:0030199	collagen fibril organization
GO:0030574	collagen catabolic process
GO:0051216	cartilage development
GO:0060272	embryonic skeletal joint morphogenesis

Cellular Component

GO:0005576	extracellular region
GO:0005581	collagen trimer
GO:0005585	collagen type II
GO:0005788	endoplasmic reticulum lumen

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

P02458