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ACAN Gene(Protein Coding)

Aggrecan

GCID:
GC15P088811
GIFtS:
63
Genes Participants
UDN Logo

Aliases for ACAN Gene

Aliases for ACAN Gene

  • Aggrecan 2 3 5
  • Chondroitin Sulfate Proteoglycan Core Protein 1 3 4
  • Cartilage-Specific Proteoglycan Core Protein 3 4
  • Chondroitin Sulfate Proteoglycan 1 2 4
  • CSPG1 3 4
  • MSK16 3 4
  • AGC1 3 4
  • Large Aggregating Proteoglycan 3
  • Aggrecan Proteoglycan 2
  • Aggrecan Core Protein 3
  • Aggrecan 1 2
  • CSPGCP 3
  • AGCAN 3
  • CSPCP 4
  • SEDK 3

External Ids for ACAN Gene

Previous HGNC Symbols for ACAN Gene

  • MSK16
  • CSPG1
  • AGC1

Previous GeneCards Identifiers for ACAN Gene

  • GC15P087148
  • GC15P089346
  • GC15P065458
  • GC15P088804
  • GC15P088807
  • GC15P088808
  • GC15P088809
  • GC15P088810

Summaries for ACAN Gene

Entrez Gene Summary for ACAN Gene

  • This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACAN Gene

ACAN (Aggrecan) is a Protein Coding gene. Diseases associated with ACAN include Osteochondritis Dissecans, Short Stature, And Early-Onset Osteoarthritis and Spondyloepimetaphyseal Dysplasia, Aggrecan Type. Among its related pathways are Phospholipase-C Pathway and Degradation of the extracellular matrix. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is VCAN.

UniProtKB/Swiss-Prot for ACAN Gene

  • This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.

Gene Wiki entry for ACAN Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAN Gene

Genomics for ACAN Gene

Products:

  1. Regulatory Element

Regulatory Elements for ACAN Gene

Enhancers for ACAN Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH15G088659 1 Ensembl ENCODE dbSUPER 5.1 -143.7 -143677 1.2 JUND POLR2A FOS ISG20 AEN ENSG00000173867 MRPL46 MRPS11 HAPLN3 ACAN PIR50540
GH15G088708 0.2 ENCODE 5.3 -94.9 -94855 0.5 ACAN PIR34138 PIR50540
GH15G088810 0.4 ENCODE 0.4 +7.5 7472 1.7 CREB1 FOS LOC105370960 HAPLN3 AEN ENSG00000173867 MRPL46 MRPS11 ACAN GC15M088815
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ACAN on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ACAN gene promoter:

Genomic Location for ACAN Gene

Chromosome:
15
Start:
88,803,442 bp from pter
End:
88,875,354 bp from pter
Size:
71,913 bases
Orientation:
Plus strand

Genomic View for ACAN Gene

Genes around ACAN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAN Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for ACAN Gene

Proteins for ACAN Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • Protein details for ACAN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16112-PGCA_HUMAN
    Recommended name:
    Aggrecan core protein
    Protein Accession:
    P16112
    Secondary Accessions:
    • Q13650
    • Q9UCD3
    • Q9UCP4
    • Q9UCP5
    • Q9UDE0

    Protein attributes for ACAN Gene

    Size:
    2415 amino acids
    Molecular mass:
    250193 Da
    Quaternary structure:
    • Interacts with FBLN1 (By similarity). Interacts with COMP.

    Three dimensional structures from OCA and Proteopedia for ACAN Gene

    Alternative splice isoforms for ACAN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACAN Gene

Protein Expression for ACAN Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for ACAN Gene

  • Contains mostly chondroitin sulfate, but also keratan sulfate chains, N-linked and O-linked oligosaccharides. The release of aggrecan fragments from articular cartilage into the synovial fluid at all stages of human osteoarthritis is the result of cleavage by aggrecanase.
  • Glycosylation at Asn126, posLast=239239, Asn333, Thr371, posLast=376376, Asn387, posLast=434434, Asn602, posLast=657657, posLast=737737, and Asn1898
  • Modification sites at PhosphoSitePlus

Other Protein References for ACAN Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for ACAN Gene

Domains & Families for ACAN Gene

Gene Families for ACAN Gene

HGNC:

Protein Domains for ACAN Gene

InterPro:
Blocks:
ProtoNet:

Suggested Antigen Peptide Sequences for ACAN Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P16112

UniProtKB/Swiss-Prot:

PGCA_HUMAN :
  • Two globular domains, G1 and G2, comprise the N-terminus of the proteoglycan, while another globular region, G3, makes up the C-terminus. G1 contains Link domains and thus consists of three disulfide-bonded loop structures designated as the A, B, B motifs. G2 is similar to G1. The keratan sulfate (KS) and the chondroitin sulfate (CS) attachment domains lie between G2 and G3.
  • Belongs to the aggrecan/versican proteoglycan family.
Domain:
  • Two globular domains, G1 and G2, comprise the N-terminus of the proteoglycan, while another globular region, G3, makes up the C-terminus. G1 contains Link domains and thus consists of three disulfide-bonded loop structures designated as the A, B, B motifs. G2 is similar to G1. The keratan sulfate (KS) and the chondroitin sulfate (CS) attachment domains lie between G2 and G3.
Family:
  • Belongs to the aggrecan/versican proteoglycan family.
genes like me logo Genes that share domains with ACAN: view

Function for ACAN Gene

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  7. Flow Cytometry

Molecular function for ACAN Gene

UniProtKB/Swiss-Prot Function:
This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.

Gene Ontology (GO) - Molecular Function for ACAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 1569188
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17588949
GO:0005540 hyaluronic acid binding IBA,IEA --
GO:0030246 carbohydrate binding IEA --
genes like me logo Genes that share ontologies with ACAN: view

Phenotypes for ACAN Gene

GenomeRNAi human phenotypes for ACAN:
genes like me logo Genes that share phenotypes with ACAN: view

Human Phenotype Ontology for ACAN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for ACAN Gene

miRTarBase miRNAs that target ACAN

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ACAN Gene

Localization for ACAN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAN Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACAN gene
Compartment Confidence
extracellular 5
golgi apparatus 5
lysosome 4
plasma membrane 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
mitochondrion 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ACAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005578 proteinaceous extracellular matrix IBA,IEA --
GO:0005604 basement membrane IEA --
GO:0005615 extracellular space IEA --
GO:0005796 Golgi lumen TAS --
genes like me logo Genes that share ontologies with ACAN: view

Pathways & Interactions for ACAN Gene

genes like me logo Genes that share pathways with ACAN: view

Gene Ontology (GO) - Biological Process for ACAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development NAS 1569188
GO:0002063 chondrocyte development IEA --
GO:0006508 proteolysis NAS 1569188
GO:0007155 cell adhesion IEA --
GO:0007417 central nervous system development IBA --
genes like me logo Genes that share ontologies with ACAN: view

No data available for SIGNOR curated interactions for ACAN Gene

Drugs & Compounds for ACAN Gene

Products:

  1. Drug

(15) Drugs for ACAN Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma 469
GM6001 Experimental Pharma Target 0

(20) Additional Compounds for ACAN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ACAN: view

Transcripts for ACAN Gene

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  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone
  5. Flow Cytometry

mRNA/cDNA for ACAN Gene

(8) REFSEQ mRNAs :
(9) Additional mRNA sequences :
(206) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ACAN Gene

Aggrecan:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACAN Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - - - -
SP2: - - -
SP3: -
SP4: - -
SP5: -
SP6:
SP7:

ExUns: 20 ^ 21a · 21b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ACAN Gene

GeneLoc Exon Structure for
ACAN
ECgene alternative splicing isoforms for
ACAN

Expression for ACAN Gene

Products:

  1. Primer

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACAN Gene

mRNA expression in normal human tissues for ACAN Gene
mRNA expression by BioGPS for ACAN GenemRNA expression by GTEx for ACAN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACAN Gene

This gene is overexpressed in Artery - Tibial (x20.7), Artery - Aorta (x14.6), and Artery - Coronary (x4.5).

Protein differential expression in normal tissues from HIPED for ACAN Gene

This gene is overexpressed in Synovial fluid (25.3), Monocytes (19.9), and Bone marrow mesenchymal stem cell (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACAN Gene



NURSA nuclear receptor signaling pathways regulating expression of ACAN Gene:

ACAN

SOURCE GeneReport for Unigene cluster for ACAN Gene:

Hs.2159

mRNA Expression by UniProt/SwissProt for ACAN Gene:

P16112-PGCA_HUMAN
Tissue specificity: Restricted to cartilages.

Evidence on tissue expression from TISSUES for ACAN Gene

  • Blood(4.4)
  • Bone marrow(4.4)
  • Bone(3.3)
  • Nervous system(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAN Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • ear
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ACAN: view

No data available for Protein tissue co-expression partners for ACAN Gene

Orthologs for ACAN Gene

This gene was present in the common ancestor of chordates.

Orthologs for ACAN Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia ACAN 35
  • 99 (a)
 OneToOne
cow
(Bos Taurus)
 Mammalia ACAN 35
  • 78 (a)
 OneToOne
dog
(Canis familiaris)
 Mammalia ACAN 35
  • 78 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Acan 35
  • 77 (a)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia ACAN 35
  • 64 (a)
 OneToOne
platypus
(Ornithorhynchus anatinus)
 Mammalia ACAN 35
  • 51 (a)
 OneToOne
chicken
(Gallus gallus)
 Aves ACAN 35
  • 51 (a)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia ACAN 35
  • 45 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia acan 34
  • 59 (n)
zebrafish
(Danio rerio)
 Actinopterygii acanb 34 35
  • 60.63 (n)
acana 35
  • 36 (a)
 OneToMany
Species where no ortholog for ACAN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ACAN Gene

ENSEMBL:
Gene Tree for ACAN (if available)
TreeFam:
Gene Tree for ACAN (if available)

Paralogs for ACAN Gene

Paralogs for ACAN Gene

(16) SIMAP similar genes for ACAN Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with ACAN: view

Variants for ACAN Gene

Sequence variations from dbSNP and Humsavar for ACAN Gene

SNP ID Clin Chr 15 pos Sequence Context AA Info Type
VAR_063053 Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]
VAR_063765 Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]
rs121913568 Pathogenic 88,872,038(+) TGAAC(A/G)ACAGG reference, missense
rs267606625 Pathogenic 88,872,941(+) ACTGT(A/G)TGGTG reference, missense
rs387906534 Pathogenic 88,856,343(+) GCCCC(-/C)TGGAG reference, frameshift-variant

Structural Variations from Database of Genomic Variants (DGV) for ACAN Gene

Variant ID Type Subtype PubMed ID
esv1164464 CNV deletion 17803354
esv1510077 CNV deletion 17803354
esv2394182 CNV deletion 18987734
esv2749995 CNV deletion 23290073
esv2749997 CNV deletion 23290073
esv28667 CNV loss 19812545
nsv1070295 CNV deletion 25765185
nsv1653 CNV deletion 18451855
nsv525114 CNV loss 19592680
nsv570385 CNV loss 21841781
nsv820918 CNV deletion 20802225

Variation tolerance for ACAN Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 26.89; 99.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ACAN Gene

Human Gene Mutation Database (HGMD)
ACAN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAN

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAN Gene

Disorders for ACAN Gene

MalaCards: The human disease database

(34) MalaCards diseases for ACAN Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search ACAN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PGCA_HUMAN
  • Osteochondritis dissecans short stature and early-onset osteoarthritis (OD) [MIM:165800]: A type of osteochondritis defined as a separation of cartilage and subchondral bone from the surrounding tissue, primarily affecting the knee, ankle and elbow joints. It is clinically characterized by multiple osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short stature and early-onset osteoarthritis. {ECO:0000269 PubMed:20137779}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts. {ECO:0000269 PubMed:19110214}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepiphyseal dysplasia type Kimberley (SEDK) [MIM:608361]: Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy. {ECO:0000269 PubMed:16080123}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ACAN

Genetic Association Database (GAD)
ACAN
Human Genome Epidemiology (HuGE) Navigator
ACAN
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ACAN
genes like me logo Genes that share disorders with ACAN: view

No data available for Genatlas for ACAN Gene

Publications for ACAN Gene

  1. Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms. (PMID: 1985970) Doege K.J. … Yamada Y. (J. Biol. Chem. 1991) 2 3 4 22 64
  2. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. (PMID: 16080123) Gleghorn L. … Wallis G. (Am. J. Hum. Genet. 2005) 3 4 22 64
  3. The structure of aggrecan fragments in human synovial fluid. Evidence for the involvement in osteoarthritis of a novel proteinase which cleaves the Glu 373-Ala 374 bond of the interglobular domain. (PMID: 1569188) Sandy J.D. … Lohmander L.S. (J. Clin. Invest. 1992) 3 4 22 64
  4. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PMID: 21998595) N'Diaye A. … Haiman C.A. (PLoS Genet. 2011) 3 46 64
  5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64

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