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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
aggrecan
Summary
- Gene Symbol
-
- ACAN
- Aliases
-
- CSPGCP
- aggrecan proteoglycan
- Organism
- Homo sapiens (human)
Annotation
- Keyword
-
- 3D-structure
- Alternative splicing
- Calcium
- Direct protein sequencing
- Disease variant
- Disulfide bond
- Dwarfism
- EGF-like domain
- Extracellular matrix
- Immunoglobulin domain
- Lectin
- Metal-binding
- Proteoglycan
- Reference proteome
- Repeat
- Signal
- Sushi
- Proteins
| UniProt | Protein Name |
|---|---|
| P16112 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| skeletal system development | ||
| proteolysis |
|
|
| glial cell differentiation | ||
| central nervous system development | ||
| positive regulation of neuroblast proliferation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular region |
|
|
| Golgi lumen |
|
|
| perineuronal net | ||
| synapse | ||
| collagen-containing extracellular matrix |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| extracellular matrix structural constituent conferring compression resistance | ||
| hyaluronic acid binding | ||
| metal ion binding | ||
| carbohydrate binding | ||
| protein binding |
GO Hierarchy
Human Protein Atlas
Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0110295 | autosomal recessive limb-girdle muscular dystrophy type 2U | |
| DOID:0110296 | autosomal recessive limb-girdle muscular dystrophy type 2M | |
| DOID:0110297 | autosomal recessive limb-girdle muscular dystrophy type 2K | |
| DOID:0110298 | autosomal recessive limb-girdle muscular dystrophy type 2N | |
| DOID:0110299 | autosomal recessive limb-girdle muscular dystrophy type 2I | |
| DOID:0110300 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1A | |
| DOID:0110301 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1B | |
| DOID:0110302 | obsolete autosomal dominant limb-girdle muscular dystrophy type 1C | |
| DOID:0110303 | autosomal dominant limb-girdle muscular dystrophy type 1H | |
| DOID:0110304 | autosomal dominant limb-girdle muscular dystrophy type 2 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001382 | Joint hypermobility |
| HP:0001552 | Barrel-shaped chest |
| HP:0001597 | Abnormality of the nail |
| HP:0001609 | Hoarse voice |
| HP:0002007 | Frontal bossing |
| HP:0002515 | Waddling gait |
| HP:0002651 | Spondyloepimetaphyseal dysplasia |
| HP:0002655 | Spondyloepiphyseal dysplasia |
| HP:0002750 | Delayed skeletal maturation |
| HP:0002758 | Osteoarthritis |
| Disease ID | Disease Name |
|---|---|
| ORPHA:171866 |
|
| ORPHA:435804 |
|
| OMIM:608361 |
|
| OMIM:165800 |
|
| OMIM:612813 |
|
| ORPHA:93283 |
|
PubChem Disease
- GHR Health Conditions
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 108535782 | RHIBE19388 | ||
| 104661607 | RHIRO28613 | ||
| 116450302 | CORMO03088 | ||
| 103273187 | CARSF02287 | ||
| 115613125 | STRHB23096 |
