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collagen type I alpha 2 chain
Summary
- Gene Symbol
-
- COL1A2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Calcium
- Chromosomal rearrangement
- Collagen
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Dwarfism
- Ehlers-Danlos syndrome
- Extracellular matrix
- Glycoprotein
- Hydroxylation
- Metal-binding
- Osteogenesis imperfecta
- Pyrrolidone carboxylic acid
- Reference proteome
- Repeat
- Signal
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A0S2Z3H5 |
|
| P08123 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| skeletal system development | ||
| blood vessel development | ||
| transforming growth factor beta receptor signaling pathway | ||
| Rho protein signal transduction | ||
| regulation of blood pressure |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region | ||
| extracellular region | ||
| collagen type I trimer | ||
| collagen type I trimer | ||
| collagen type I trimer |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protease binding | ||
| extracellular matrix structural constituent | ||
| protein binding | ||
| extracellular matrix structural constituent conferring tensile strength | ||
| extracellular matrix structural constituent conferring tensile strength |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- collagen alpha
- Functional Category
-
- E: Amino acid transport and metabolism
- G: Carbohydrate transport and metabolism
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| extracellular matrix organization |
| extracellular matrix structural constituent conferring tensile strength |
| extracellular matrix structural constituent |
| InterPro |
|---|
| Collagen triple helix repeat |
| Fibrillar collagen, C-terminal |
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0080728 | Ehlers-Danlos syndrome arthrochalasia type 2 | |
| DOID:0080730 | Ehlers-Danlos syndrome cardiac valvular type | |
| DOID:0110339 | osteogenesis imperfecta type 3 | |
| DOID:0110340 | osteogenesis imperfecta type 4 | |
| DOID:0110341 | osteogenesis imperfecta type 2 | |
| DOID:10941 | intracranial aneurysm | |
| DOID:11476 | osteoporosis | |
| DOID:12347 | osteogenesis imperfecta | |
| DOID:13359 | Ehlers-Danlos syndrome | |
| DOID:4079 | heart valve disease |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 1278 | Xenbase:XB-GENE-493264 | ||
| 12843 | Xenbase:XB-GENE-493264 | MOUSE47989 | |
| 84352 | Xenbase:XB-GENE-493264 | RATNO29729 | |
| 282188 | BOVIN27622 | ||
| 336471 | DANRE15463 | ||
| 403824 | CANLF03665 | ||
| 443512 | SHEEP15298 | ||
| 455117 | PANTR40767 | ||
| 700359 | MACMU31044 | ||
| 100008997 | RABIT01669 |
