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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:0110282	autosomal recessive limb-girdle muscular dystrophy type 2H	DisGeNET
DOID:0110283	autosomal recessive limb-girdle muscular dystrophy type 2J	DisGeNET
DOID:0110284	autosomal recessive limb-girdle muscular dystrophy type 2L	DisGeNET
DOID:0110285	autosomal recessive limb-girdle muscular dystrophy type 2Q	DisGeNET
DOID:0110286	obsolete autosomal recessive limb-girdle muscular dystrophy type 2R	DisGeNET
DOID:0110287	autosomal recessive limb-girdle muscular dystrophy type 2S	DisGeNET
DOID:0110289	autosomal recessive limb-girdle muscular dystrophy type 2Y	DisGeNET
DOID:0110292	autosomal recessive limb-girdle muscular dystrophy type 2O	DisGeNET
DOID:0110293	autosomal recessive limb-girdle muscular dystrophy type 2P	DisGeNET
DOID:0110294	autosomal recessive limb-girdle muscular dystrophy type 2T	DisGeNET

The Human Phenotype Ontology

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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

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	Alliance of Genome Resources	Orthologous MAtrix
Tursiops truncatus	101331507		TURTR03586
Loxodonta africana	100665333		LOXAF10767
Sus scrofa	397255		PIGXX31927
Bos taurus	280985		BOVIN16377
Capra hircus	102188900		CAPHI13464
Oryctolagus cuniculus	100009079		RABIT17442
Cricetulus griseus	100764201		CRIGR23194
Mus musculus	11595	MGI:99602	MOUSE53334
Rattus norvegicus	58968	RGD:68358	RATNO16381
Cavia porcellus	100731672		CAVPO06994

GlyTouCan

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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