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collagen type XI alpha 2 chain
Summary
- Gene Symbol
-
- COL11A2
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- Alternative splicing
- Calcium
- Collagen
- Disease variant
- Disulfide bond
- Dwarfism
- Extracellular matrix
- Glycoprotein
- Hydroxylation
- Metal-binding
- Non-syndromic deafness
- Proteomics identification
- Reference proteome
- Repeat
- Ribosomal protein
- Signal
- Stickler syndrome
- Proteins
| UniProt | Protein Name |
|---|---|
| A0A0C4DFS1 |
|
| Q4VXY6 |
|
| A0A0G2JL35 |
|
| A0A140TA43 |
|
| P13942 |
|
| A0A0G2JL78 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| skeletal system development |
|
|
| skeletal system development |
|
|
| tissue homeostasis |
|
|
| chondrocyte differentiation |
|
|
| sensory perception of sound |
|
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region |
|
|
| extracellular region |
|
|
| collagen trimer |
|
|
| collagen type II trimer |
|
|
| collagen type XI trimer |
|
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix structural constituent |
|
|
| protein binding |
|
|
| extracellular matrix structural constituent conferring tensile strength |
|
|
| 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:0080026 | otospondylomegaepiphyseal dysplasia, autosomal recessive | |
| DOID:0080673 | fibrochondrogenesis 2 | |
| DOID:0080677 | otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| DOID:0110509 | autosomal recessive nonsyndromic deafness 53 | |
| DOID:0110545 | autosomal dominant nonsyndromic deafness 13 | |
| DOID:2256 | osteochondrodysplasia | |
| DOID:674 | cleft palate |
