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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:0110749 | type 1 diabetes mellitus 10 | |
| DOID:0110750 | type 1 diabetes mellitus 11 | |
| DOID:0110751 | type 1 diabetes mellitus 12 | |
| DOID:0110752 | type 1 diabetes mellitus 13 | |
| DOID:0110753 | type 1 diabetes mellitus 15 | |
| DOID:0110754 | type 1 diabetes mellitus 17 | |
| DOID:0110755 | type 1 diabetes mellitus 18 | |
| DOID:0110756 | type 1 diabetes mellitus 19 | |
| DOID:0110757 | type 1 diabetes mellitus 20 | |
| DOID:0110758 | type 1 diabetes mellitus 21 |
- 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 |
|---|---|---|---|
| 698498 | MACMU41840 | ||
| 105488344 | MACNE37567 | ||
| 105544073 | MANLE22247 | ||
| 101140474 | GORGO10321 | ||
| 100969652 | PANPA14076 | ||
| 453629 | PANTR11097 | ||
| 403828 | CANLF12043 | ||
| 112921800 | VULVU01672 | ||
| 101691264 | MUSPF08695 | ||
| 101084542 | FELCA14561 |
