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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

HGNC:319

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)

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GO Term	Evidence Code	PMID
skeletal system development	IBA NAS	1569188
proteolysis		1569188
glial cell differentiation	IBA
central nervous system development	IBA
positive regulation of neuroblast proliferation	IBA

GO Hierarchy

biological process

metabolic process [inference]

nitrogen compound metabolic process [inference]

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis

primary metabolic process [inference]

protein metabolic process [inference]

proteolysis

organic substance metabolic process [inference]

macromolecule metabolic process [inference]

protein metabolic process [inference]

proteolysis

organonitrogen compound metabolic process [inference]

protein metabolic process [inference]

proteolysis

cellular process [inference]

cell adhesion

cellular developmental process [inference]

cell differentiation [inference]

glial cell differentiation

developmental process [inference]

anatomical structure development [inference]

system development [inference]

cellular developmental process [inference]

cell differentiation [inference]

glial cell differentiation

biological regulation [inference]

regulation of biological process [inference]

positive regulation of biological process [inference]

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of neural precursor cell proliferation [inference]

positive regulation of neuroblast proliferation

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of multicellular organismal process [inference]

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of developmental process [inference]

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of cell development [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of developmental process [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of multicellular organismal development [inference]

regulation of nervous system development [inference]

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of cellular process [inference]

regulation of cell population proliferation [inference]

positive regulation of cell population proliferation [inference]

positive regulation of neural precursor cell proliferation [inference]

positive regulation of neuroblast proliferation

regulation of neural precursor cell proliferation [inference]

regulation of neuroblast proliferation [inference]

positive regulation of neuroblast proliferation

positive regulation of neural precursor cell proliferation [inference]

positive regulation of neuroblast proliferation

regulation of cell differentiation [inference]

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of cell development [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of cellular process [inference]

positive regulation of cell population proliferation [inference]

positive regulation of neural precursor cell proliferation [inference]

positive regulation of neuroblast proliferation

positive regulation of cell differentiation [inference]

positive regulation of cell development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of multicellular organismal process [inference]

positive regulation of multicellular organismal process [inference]

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

regulation of multicellular organismal development [inference]

regulation of nervous system development [inference]

regulation of neurogenesis [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

positive regulation of nervous system development [inference]

positive regulation of neurogenesis [inference]

positive regulation of neuroblast proliferation

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GO Term	Evidence Code	PMID
extracellular region
Golgi lumen
perineuronal net	IBA
synapse	IBA
collagen-containing extracellular matrix	HDA	20551380 27068509

GO Hierarchy

cellular component

cellular anatomical entity [inference]

cell junction [inference]

synapse

external encapsulating structure [inference]

extracellular matrix [inference]

collagen-containing extracellular matrix

perisynaptic extracellular matrix [inference]

perineuronal net

membrane-enclosed lumen [inference]

organelle lumen [inference]

intracellular organelle lumen [inference]

vacuolar lumen [inference]

lysosomal lumen

Golgi lumen

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GO Term	Evidence Code	PMID
extracellular matrix structural constituent conferring compression resistance	RCA	20551380 27068509
hyaluronic acid binding	IEA
metal ion binding	IEA
carbohydrate binding	IEA
protein binding	IPI	17588949 32814053

GO Hierarchy

molecular function

structural molecule activity [inference]

extracellular matrix structural constituent

extracellular matrix structural constituent conferring compression resistance

binding [inference]

ion binding [inference]

cation binding [inference]

metal ion binding

carbohydrate derivative binding [inference]

glycosaminoglycan binding [inference]

hyaluronic acid binding

Gene Ontology information from NCBI Gene and UniProt.

Human Protein Atlas

ENSG00000157766

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

16185673

Disease

Disease Ontology

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DO ID	Disease Name	Source
DOID:0090078	hypogonadotropic hypogonadism 7 with or without anosmia	DisGeNET
DOID:0110273	autosomal dominant limb-girdle muscular dystrophy	DisGeNET
DOID:0110274	autosomal recessive limb-girdle muscular dystrophy	DisGeNET
DOID:0110275	autosomal recessive limb-girdle muscular dystrophy type 2A	DisGeNET
DOID:0110276	autosomal recessive limb-girdle muscular dystrophy type 2B	DisGeNET
DOID:0110277	autosomal recessive limb-girdle muscular dystrophy type 2C	DisGeNET
DOID:0110278	autosomal recessive limb-girdle muscular dystrophy type 2D	DisGeNET
DOID:0110279	autosomal recessive limb-girdle muscular dystrophy type 2E	DisGeNET
DOID:0110280	autosomal recessive limb-girdle muscular dystrophy type 2F	DisGeNET
DOID:0110281	autosomal recessive limb-girdle muscular dystrophy type 2G	DisGeNET

The Human Phenotype Ontology

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HPO ID	HPO Term
HP:0009778	Short thumb
HP:0010055	Broad hallux
HP:0010306	Short thorax
HP:0010582	Irregular epiphyses
HP:0010886	Osteochondritis dissecans
HP:0011304	Broad thumb
HP:0011800	Midface retrusion
HP:0100777	Exostoses

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

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Species	Gene ID	Orthologous MAtrix
Melopsittacus undulatus	101879658	MELUD09194
Monodelphis domestica	100016782	MONDO05376
Vombatus ursinus	114035776	VOMUR03544
Otolemur garnettii	100953762	OTOGA12876
Aotus nancymaae	105707611	AOTNA11109
Saimiri boliviensis boliviensis	101045734	SAIBB03193
Ictidomys tridecemlineatus	101968499	ICTTR14448
Myotis lucifugus	102438986	MYOLU17069
Taeniopygia guttata	100229255	TAEGU01924
Ficedula albicollis	101808742	FICAL05850

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GlycoPOST

UniCarb-DR

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Other Information

Tools

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Summary

External Links

Annotation

KEGG BRITE Database

PubChem Disease

International Collaboration

Acknowledgements