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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 space | ||
| lysosomal lumen |
|
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:0110759 | type 1 diabetes mellitus 22 | |
| DOID:0110760 | type 1 diabetes mellitus 23 | |
| DOID:0110761 | type 1 diabetes mellitus 24 | |
| DOID:0111158 | SADDAN | |
| DOID:0111192 | facioscapulohumeral muscular dystrophy 1 | |
| DOID:0112282 | spondyloepiphyseal dysplasia Kimberley type | |
| DOID:10192 | pleomorphic lipoma | |
| DOID:10316 | pneumoconiosis | |
| DOID:10320 | asbestosis | |
| DOID:10324 | anthracosilicosis |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000006 | Autosomal dominant inheritance |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000272 | Malar flattening |
| HP:0000303 | Mandibular prognathia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| HP:0000470 | Short neck |
| HP:0000926 | Platyspondyly |
| HP:0001156 | Brachydactyly |
| 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 |
|---|---|---|---|
| 101331507 | TURTR03586 | ||
| 100665333 | LOXAF10767 | ||
| 397255 | PIGXX31927 | ||
| 280985 | BOVIN16377 | ||
| 102188900 | CAPHI13464 | ||
| 100009079 | RABIT17442 | ||
| 100764201 | CRIGR23194 | ||
| 11595 | MGI:99602 | MOUSE53334 | |
| 58968 | RGD:68358 | RATNO16381 | |
| 100731672 | CAVPO06994 |
