aggrecan

Summary
Gene Symbol
  • ACAN
Aliases
  • CSPGCP
  • aggrecan proteoglycan
Organism
Homo sapiens (human)
External Links
NCBI Gene
176
HGNC
319
KEGG Gene ID
hsa:176
PubChem
176
Alliance of Genome Resources
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
Displaying 1 entry
UniProt Protein Name
P16112
  • Cartilage-specific proteoglycan core protein
  • Chondroitin sulfate proteoglycan core protein 1
Gene Ontology (GO)
GO Hierarchy
Human Protein Atlas
ENSG00000157766

soft tissue soft tissue blood blood blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node kidney kidney adrenal gland adrenal gland breast breast duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland nasopharynx nasopharynx tongue tonsil tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder ductus deferens ductus deferens seminal vesicle seminal vesicle seminal vesicle seminal vesicle testis testis epididymis epididymis brain smooth muscle urinary bladder prostate bone marrow skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus cartilage sole of foot sole of foot soft tissue blood blood blood blood blood blood blood blood blood blood blood blood lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lymph node lactating breast lactating breast kidney kidney adrenal gland adrenal gland duodenum stomach small intestine colon rectum appendix esophagus eye eye salivary gland salivary gland salivary gland salivary gland salivary gland salivary gland nasopharynx tongue tonsil tonsil hair skin adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue adipose tissue spinal cord oral mucosa lung lung heart bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus bronchus liver pancreas thyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland parathyroid gland spleen gallbladder brain skeletal muscle skeletal muscle skeletal muscle skeletal muscle skeletal muscle thymus thymus smooth muscle urinary bladder vagina ovary ovary fallopian tube fallopian tube endometrium placenta cervix cervix bone marrow cartilage sole of foot sole of foot olfactory region cerebral cortex cerebellum medulla pons midbrain pituitary gland hypothalamus amygdala thalamus choroid plexus choroid plexus corpus callosum basal ganglia substantia nigra dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe dorsal raphe caudate hippocampus retina retina

Tissue with high expression from Human Protein Atlas. Tissues that are highly expressed are highlighted.

KEGG BRITE Database
Orthology
K06792
Name
aggrecan 1
References
Disease
Disease Ontology
Displaying entries 1 - 10 of 183 in total
DO ID Disease Name Source
DOID:0050657 Bannayan-Riley-Ruvalcaba syndrome
DOID:0050697 chorioamnionitis
DOID:0050742 nicotine dependence
DOID:0060041 autism spectrum disorder
DOID:0060249 scoliosis
DOID:0060256 Dowling-Degos disease
DOID:0060258 reticulate acropigmentation of Kitamura
DOID:0060889 prune belly syndrome
DOID:0080001 bone disease
DOID:0080041 hypochondroplasia
The Human Phenotype Ontology
Displaying entries 11 - 20 of 48 in total
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
Displaying all 6 entries
Disease ID Disease Name
ORPHA:171866
  • spondyloepimetaphyseal dysplasia, aggrecan type
ORPHA:435804
  • short stature-advanced bone age-early-onset osteoarthritis syndrome
OMIM:608361
  • spondyloepiphyseal dysplasia, Kimberley type
OMIM:165800
  • short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
OMIM:612813
  • spondyloepimetaphyseal dysplasia, aggrecan type
ORPHA:93283
  • spondyloepiphyseal dysplasia, Kimberley type

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024