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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 |
|---|---|---|
| cell adhesion |
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:0110282 | autosomal recessive limb-girdle muscular dystrophy type 2H | |
| DOID:0110283 | autosomal recessive limb-girdle muscular dystrophy type 2J | |
| DOID:0110284 | autosomal recessive limb-girdle muscular dystrophy type 2L | |
| DOID:0110285 | autosomal recessive limb-girdle muscular dystrophy type 2Q | |
| DOID:0110286 | obsolete autosomal recessive limb-girdle muscular dystrophy type 2R | |
| DOID:0110287 | autosomal recessive limb-girdle muscular dystrophy type 2S | |
| DOID:0110289 | autosomal recessive limb-girdle muscular dystrophy type 2Y | |
| DOID:0110292 | autosomal recessive limb-girdle muscular dystrophy type 2O | |
| DOID:0110293 | autosomal recessive limb-girdle muscular dystrophy type 2P | |
| DOID:0110294 | autosomal recessive limb-girdle muscular dystrophy type 2T |
- 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 |
|---|---|---|---|
| 497505 | ZFIN:ZDB-GENE-050208-221 | ||
| 559593 | ZFIN:ZDB-GENE-100422-16 | ||
| 108710307 | Xenbase:XB-GENE-6486824 | ||
| 108712312 | Xenbase:XB-GENE-17345141 | ||
| 100216104 | Xenbase:XB-GENE-5991711 | ||
| 100491091 | Xenbase:XB-GENE-921494 | ||
| 101939274 | CHRPI05724 | ||
| 109309120 | CROPO16116 | ||
| 100549278 | MELGA03192 | ||
| 105592419 | CERAT35297 |
