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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 |
|
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:0110305 | autosomal dominant limb-girdle muscular dystrophy type 1 | |
| DOID:0110306 | autosomal dominant limb-girdle muscular dystrophy type 3 | |
| DOID:0110741 | type 1 diabetes mellitus 2 | |
| DOID:0110742 | type 1 diabetes mellitus 3 | |
| DOID:0110743 | type 1 diabetes mellitus 4 | |
| DOID:0110744 | type 1 diabetes mellitus 5 | |
| DOID:0110745 | type 1 diabetes mellitus 6 | |
| DOID:0110746 | type 1 diabetes mellitus 7 | |
| DOID:0110747 | type 1 diabetes mellitus 8 | |
| DOID:0110748 | obsolete type 1 diabetes mellitus 9 |
- 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 |
|---|---|---|---|
| 101879658 | MELUD09194 | ||
| 100016782 | MONDO05376 | ||
| 114035776 | VOMUR03544 | ||
| 100953762 | OTOGA12876 | ||
| 105707611 | AOTNA11109 | ||
| 101045734 | SAIBB03193 | ||
| 101968499 | ICTTR14448 | ||
| 102438986 | MYOLU17069 | ||
| 100229255 | TAEGU01924 | ||
| 101808742 | FICAL05850 |
