COL2A1
Collagen alpha-1(II) chain
Protein Summary
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. 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]
- ENST00000337299
- ENSP00000338213
- ENSG00000139219
- ENST00000380518
- ENSP00000369889
- AOM
- ANFH
- SEDC
- STL1
- COL11A3
Most Knowledge About | Knowledge Value
(0 to 1 scale) | ||
|---|---|---|---|
gene perturbation | 0.99 | ||
biological term | 0.94 | ||
PubMedID | 0.92 | ||
disease | 0.86 | ||
phenotype | 0.86 | ||
Related Tools
TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.
GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.
GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.
ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.
IDG Development Level Summary
These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 859.43 (req: < 5)
Gene RIFs: 182 (req: <= 3)
Antibodies: 668 (req: <= 50)
These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:
Pubmed score: 859.43 (req: >= 5)
Gene RIFs: 182 (req: > 3)
Antibodies: 668 (req: > 50)
- OR - satisfy the following criterion:
Gene Ontology Terms: 32
Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions
Active Ligand: 0
Target has at least one approved drug - AND - satisfies the preceding conditions
Active Drug: 0
GWAS Traits (4)
Items per page:
1 – 4 of 4
GWAS Trait | EFO ID | Study Count | SNP Count | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|---|---|
appendicular lean mass | 1 | 1 | 1 | 66.2 | |||||
neutrophil percentage of leukocytes | 1 | 1 | 1 | 19.2 | |||||
monocyte count | 1 | 1 | 1 | 16.4 | |||||
lymphocyte count | 1 | 1 | 1 | 16.4 | |||||
Items per page:
1 – 4 of 4
GWAS Trait | EFO ID | Beta Count | Odds Ratio | Evidence (Mean Rank Score) | Provenance | ||
|---|---|---|---|---|---|---|---|
appendicular lean mass | 1 | 66.2 | |||||
neutrophil percentage of leukocytes | 1 | 19.2 | |||||
monocyte count | 1 | 16.4 | |||||
lymphocyte count | 1 | 16.4 | |||||
Orthologs (9)
1 – 5 of 9
Species | Name | Source ID | Gene ID | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|---|---|
Chimp | collagen type II alpha 1 chain | VGNC:10704 | 451860 | |||||
Mouse | MGI:88452 | 12824 | ||||||
Rat | RGD:2375 | 25412 | ||||||
Dog | collagen type II alpha 1 chain | VGNC:39471 | 403826 | |||||
Horse | collagen type II alpha 1 chain | VGNC:16737 | 791241 | |||||
Species | Name | OMA | EggNOG | Inparanoid | ||
|---|---|---|---|---|---|---|
Chimp | collagen type II alpha 1 chain | |||||
Mouse | ||||||
Rat | ||||||
Dog | collagen type II alpha 1 chain | |||||
Horse | collagen type II alpha 1 chain | |||||
Protein Structure (7 Structures, 1 AlphaFold Model)
Click on a row in the table to change the structure displayed.
More information can be found at RCSB PDB
1 – 5 of 7
PDB Structure Id | Ligand | Method | Resolution (Å) | Residues | Fraction of Total Protein | Pub Year | Title |
|---|
PDB Structure Id | Fraction of Total Protein | Resolution | Pub Year |
|---|
Pathways (22)
Reactome (5)
KEGG (5)
PathwayCommons (5)
WikiPathways (7)
Click on a row in the table to change the structure displayed.
Items per page:
1 – 5 of 5
Data Source | Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|---|
Reactome | Assembly of collagen fibrils and other multimeric structures | ||||
Reactome | Collagen biosynthesis and modifying enzymes | ||||
Reactome | Collagen chain trimerization | ||||
Reactome | Collagen formation | ||||
Reactome | Extracellular matrix organization | ||||
Name | Explore in Pharos | Explore in Source | ||
|---|---|---|---|---|
Assembly of collagen fibrils and other multimeric structures | ||||
Collagen biosynthesis and modifying enzymes | ||||
Collagen chain trimerization | ||||
Collagen formation | ||||
Extracellular matrix organization | ||||
Gene Ontology Terms (40)
Functions (7)
Components (8)
Processes (25)
Items per page:
10
1 – 7 of 7
GO Term | Evidence | Assigned by | ||
|---|---|---|---|---|
Inferred from Direct Assay (IDA) | MGI | |||
Inferred from Direct Assay (IDA) | MGI | |||
Inferred from Physical Interaction (IPI) | CAFA | |||
Inferred from High Throughput Direct Assay (HDA) | BHF-UCL | |||
Inferred from Biological aspect of Ancestor (IBA) | GO_Central | |||
Non-traceable Author Statement (NAS) | BHF-UCL | |||
Inferred from Electronic Annotation (IEA) | UniProtKB-KW | |||
Protein-Protein Interactions (207)
1 – 10 of 207
LAIR2
Novelty: 0.06117644
p_int: 0.999999986
p_ni: 1.4e-8
p_wrong: 1e-9
Data Source: BioPlex
PLOD1
Family: Enzyme
Novelty: 0.00905345
p_int: 0.999999588
p_ni: 4.12e-7
Score: 0.936
Data Source: BioPlex,STRINGDB
MMP9
Family: Enzyme
Novelty: 0.00008645
p_int: 0.999998423
p_ni: 0.000001576
Score: 0.506
Data Source: BioPlex,STRINGDB
COL8A2
Novelty: 0.01672103
p_int: 0.999996793
p_ni: 0.000003207
Score: 0.97
Data Source: BioPlex,STRINGDB
P4HA1
Family: Enzyme
Novelty: 0.01624726
p_int: 0.99998342
p_ni: 0.000016579
p_wrong: 1e-9
Score: 0.924
Data Source: BioPlex,STRINGDB
COLGALT2
Family: Enzyme
Novelty: 0.15981994
p_int: 0.999953598
p_ni: 0.000046384
p_wrong: 1.7e-8
Score: 0.952
Data Source: BioPlex,STRINGDB
MMP2
Family: Enzyme
Novelty: 0.00012762
p_int: 0.999937648
p_ni: 0.000062306
p_wrong: 4.6e-8
Score: 0.497
Data Source: BioPlex,STRINGDB
C1QTNF2
Novelty: 0.18607978
p_int: 0.99992905
p_ni: 0.000070949
Score: 0.297
Data Source: BioPlex,STRINGDB
COL9A1
Novelty: 0.0160066
p_int: 0.999114226
p_ni: 0.000885767
p_wrong: 8e-9
Score: 0.963
Data Source: BioPlex,STRINGDB
FKBP9
Family: Enzyme
Novelty: 0.16472204
p_int: 0.998671448
p_ni: 0.001328548
p_wrong: 4e-9
Score: 0.202
Data Source: BioPlex,STRINGDB
Publication Statistics
PubMed Score 859.43
PubMed score by year
PubTator Score 588.73
PubTator score by year
Amino Acid Sequence
Residue Counts
Protein Sequence
ProtVista Viewer
Find similar targets by:
UniProt Keyword