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 11 - 20 of 183 in total
DO ID Disease Name Source
DOID:0080047 pseudoachondroplasia
DOID:0080109 infantile myofibromatosis
DOID:0080332 bicuspid aortic valve disease
DOID:0080333 aortic valve disease 1
DOID:0080334 aortic valve disease 2
DOID:0080349 developmental and epileptic encephalopathy 39
DOID:0080362 X-linked spondyloepiphyseal dysplasia tarda
DOID:0080480 peroxisome biogenesis disorder 5A
DOID:0090004 progressive pseudorheumatoid arthropathy of childhood
DOID:0090032 Silverman-Handmaker type dyssegmental dysplasia
The Human Phenotype Ontology
Displaying entries 1 - 10 of 48 in total
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
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