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This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]
COL2A1 (Collagen Type II Alpha 1 Chain) is a Protein Coding gene. Diseases associated with COL2A1 include Kniest Dysplasia and Spondyloepimetaphyseal Dysplasia, Strudwick Type. Among its related pathways are Simplified Interaction Map Between LOXL4 and Oxidative Stress Pathway and Integrin Pathway. Gene Ontology (GO) annotations related to this gene include identical protein binding and platelet-derived growth factor binding. An important paralog of this gene is COL1A1.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005201 | extracellular matrix structural constituent | IBA | 21873635 |
GO:0005515 | protein binding | IEA | -- |
GO:0030020 | extracellular matrix structural constituent conferring tensile strength | RCA | 27559042 |
GO:0042289 | MHC class II protein binding | IPI | 9354468 |
GO:0042802 | identical protein binding | NAS | 2587267 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005576 | extracellular region | HDA,TAS | -- |
GO:0005581 | collagen trimer | IBA | 21873635 |
GO:0005585 | collagen type II trimer | IDA | 8660302 |
GO:0005604 | basement membrane | IEA | -- |
GO:0005615 | extracellular space | IBA,IMP | 20603131 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Collagen chain trimerization |
Intrinsic Prothrombin Activation Pathway
.48
Blood Coagulation Cascade
.46
|
|
2 | Integrin Pathway |
FAK1 Signaling
.67
Integrin Pathway
.67
GnRH Signaling
.56
|
UPA-UPAR Pathway
.56
Inhibition of Angiogenesis by TSP1
.50
Transendothelial Migration of Leukocytes
.38
|
3 | ERK Signaling |
ERK Signaling
.61
Rho Family GTPases
.61
MAPK Signaling
.58
|
Molecular Mechanisms of Cancer
.51
ILK Signaling
.49
|
4 | Focal Adhesion |
.61
|
.61
|
5 | PI3K-Akt signaling pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0001501 | skeletal system development | IMP | 1429602 |
GO:0001502 | cartilage condensation | IEA | -- |
GO:0001503 | ossification | IEA | -- |
GO:0001894 | tissue homeostasis | IEA | -- |
GO:0001958 | endochondral ossification | IEA | -- |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Collagenase | Approved, Investigational | Pharma | Target | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs |
---|
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8 | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17 | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ | 23a | · | 23b | ^ | 24 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | - |
ExUns: | 25 | ^ | 26 | ^ | 27a | · | 27b | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31 | ^ | 32 | ^ | 33 | ^ | 34 | ^ | 35 | ^ | 36 | ^ | 37 | ^ | 38 | ^ | 39 | ^ | 40 | ^ | 41 | ^ | 42 | ^ | 43 | ^ | 44 | ^ | 45 | ^ | 46 | ^ | 47 | ^ | 48 | ^ | 49 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: |
ExUns: | 50 | ^ | 51 |
---|---|---|---|
SP1: | |||
SP2: | |||
SP3: | |||
SP4: | |||
SP5: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | COL2A1 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | COL2A1 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | COL2A1 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | COL2A1 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Col2a1 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Col2a1 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | COL2A1 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | COL2A1 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | COL2A1 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | col2a1 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | col2a1b 31 |
|
OneToMany | |
col2a1a 30 31 |
|
OneToMany | |||
Dr.27172 30 |
|
||||
Fruit Fly (Drosophila melanogaster) |
Insecta | Cg25C 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.7880 31 |
|
OneToMany |
SNP ID | Clinical significance and condition | Chr 12 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
17376 | Pathogenic: Kniest dysplasia | 47,985,907(-) | C/T | INTRON_VARIANT | |
17382 | Pathogenic: Stickler syndrome type 1 | 47,985,727(-) | C/T | SPLICE_DONOR_VARIANT | |
17390 | Pathogenic: Platyspondylic dysplasia, Torrance type | 47,973,454(-) | GCCCT/G | FRAMESHIFT_VARIANT | |
17398 | Pathogenic: Stickler syndrome type 1 | 47,995,310(-) | T/C | SPLICE_ACCEPTOR_VARIANT | |
17399 | Pathogenic: Stickler syndrome, type I, nonsyndromic ocular | 47,975,315(-) | A/G | SPLICE_DONOR_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
kniest dysplasia |
|
|
spondyloepimetaphyseal dysplasia, strudwick type |
|
|
spondyloepiphyseal dysplasia congenita |
|
|
achondrogenesis, type ii |
|
|
platyspondylic lethal skeletal dysplasia, torrance type |
|