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Standards Ontologies Notations
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
Annotation information from UniProt.
Gene Ontology (GO)
Displaying entries 1 - 5 of 6 in total
GO Term Evidence Code PMID
skeletal system development
proteolysis
glial cell differentiation
central nervous system development
positive regulation of neuroblast proliferation
GO Hierarchy
Gene Ontology information from NCBI Gene and UniProt.
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.

Data available from v23.0.proteinatlas.org. Image credit: Human Protein Atlas
KEGG BRITE Database
Orthology
K06792
Name
aggrecan 1
References
Disease
Disease Ontology
Displaying entries 61 - 70 of 183 in total
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
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
PubChem Disease
GHR Health Conditions
MedGen Diseases
OMIM Phenotypes
KEGG Diseases
Gene-Disease-Co-Occurrences-in-Literature (PubChem)
Ortholog
Displaying entries 31 - 40 of 45 in total
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
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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