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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 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

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 spondyloepimetaphyseal dysplasia, aggrecan type and spondyloepiphyseal dysplasia, kimberley type. Among its related pathways are Articular Cartilage Extracellular Matrix Pathway and Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. GO annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is HAPLN2.

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 Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACAN Gene

Genomics for ACAN Gene

Regulatory Elements for ACAN Gene

Enhancers for ACAN Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around ACAN on UCSC Golden Path with GeneCards custom track

Promoters for ACAN Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ACAN on UCSC Golden Path with GeneCards custom track

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 StructureGene Density

RefSeq DNA sequence for ACAN Gene

Proteins for ACAN Gene

  • 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

Proteomics data for ACAN Gene at MOPED

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 Asn 126, Asn 239, Asn 333, Thr 371, Thr 376, Asn 387, Asn 434, Asn 602, Asn 657, Asn 737, and Asn 1898
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for ACAN Gene

Domains & Families for ACAN Gene

Suggested Antigen Peptide Sequences for ACAN Gene

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.
  • Contains 1 C-type lectin domain.
  • Contains 1 EGF-like domain.
  • Contains 1 Ig-like V-type (immunoglobulin-like) domain.
  • Contains 4 Link domains.
  • Contains 1 Sushi (CCP/SCR) domain.
Family:
  • Belongs to the aggrecan/versican proteoglycan family.
genes like me logo Genes that share domains with ACAN: view

Function for ACAN Gene

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:0005540 hyaluronic acid binding IEA,IBA --
genes like me logo Genes that share ontologies with ACAN: view

Phenotypes for ACAN Gene

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

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
Jensen Localization Image for ACAN Gene COMPARTMENTS Subcellular localization image for ACAN gene
Compartment Confidence
extracellular 5
golgi apparatus 5
vacuole 5
lysosome 4
cytoskeleton 2
endoplasmic reticulum 2
nucleus 2
plasma membrane 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ACAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0043202 lysosomal 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:0007155 cell adhesion IEA,IBA --
GO:0007507 heart development IEA --
GO:0022617 extracellular matrix disassembly TAS --
GO:0030166 proteoglycan biosynthetic process IEA --
GO:0030198 extracellular matrix organization TAS --
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

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

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronan Approved Pharma 411
GM6001 Experimental Pharma Target 0

(23) 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

Unigene Clusters for ACAN Gene

Aggrecan:
Representative Sequences:

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

mRNA expression in normal human tissues 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



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.
genes like me logo Genes that share expression patterns with ACAN: view

In Situ Assay Products

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
cow
(Bos Taurus)
Mammalia ACAN 36
  • 78 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ACAN 36
  • 78 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ACAN 36
  • 64 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Acan 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ACAN 36
  • 51 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ACAN 36
  • 99 (a)
OneToOne
chicken
(Gallus gallus)
Aves ACAN 36
  • 51 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACAN 36
  • 45 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acan 35
  • 59 (n)
  • 59.95 (a)
zebrafish
(Danio rerio)
Actinopterygii acanb 35
  • 60.63 (n)
  • 61.69 (a)
acana 36
  • 36 (a)
OneToMany
acanb 36
  • 44 (a)
OneToMany
Species with no ortholog for ACAN:
  • 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

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
rs16942318 - 88,838,898(+) CAGGA(A/C)AAGGT reference, missense
rs34949187 - 88,843,421(+) CCGGC(A/G)GCTGG reference, missense
rs35061438 - 88,858,758(+) AAGGC(C/T)CCCTG reference, missense
rs34153007 - 88,858,945(+) GCCAG(C/G)AGAGA reference, missense
VAR_063053 Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN)

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

Variant ID Type Subtype PubMed ID
nsv525114 CNV Loss 19592680
esv2749995 CNV Deletion 23290073
esv2394182 CNV Deletion 18987734
esv28667 CNV Loss 19812545
nsv820918 CNV Deletion 20802225
esv2749997 CNV Deletion 23290073
esv1510077 CNV Deletion 17803354
esv1164464 CNV Deletion 17803354
nsv904478 CNV Loss 21882294
nsv1653 CNV Loss 18451855

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

HapMap Linkage Disequilibrium report
ACAN
Human Gene Mutation Database (HGMD)
ACAN

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

Disorders for ACAN Gene

MalaCards: The human disease database

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

Disorder Aliases PubMed IDs
spondyloepimetaphyseal dysplasia, aggrecan type
  • semd, aggrecan type
spondyloepiphyseal dysplasia, kimberley type
  • spondyloepiphyseal dysplasia type kimberley
osteochondritis dissecans, short stature, and early-onset osteoarthritis
  • osteochondritis dissecans short stature and early-onset osteoarthritis
familial osteochondritis dissecans
  • obsessive-compulsive disorder
osteoarthritis
  • arthropathy
- 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 23 67
  2. Differential distribution of aggrecan isoforms in perineuronal nets of the human cerebral cortex. (PMID: 19220578) Virgintino D. … Perris R. (J. Cell. Mol. Med. 2009) 3 23
  3. Topographical variation in the distributions of versican, aggrecan and perlecan in the foetal human spine reflects their diverse functional roles in spinal development. (PMID: 19669783) Smith S.M. … Melrose J. (Histochem. Cell Biol. 2009) 3 23
  4. Hypoxia-inducible factor 1alpha inhibits the fibroblast-like markers type I and type III collagen during hypoxia-induced chondrocyte redifferentiation: hypoxia not only induces type II collagen and aggrecan, but it also inhibits type I and type III collagen in the hypoxia-inducible factor 1alpha-dependent redifferentiation of chondrocytes. (PMID: 19790048) Duval E. … BoumAcdiene K. (Arthritis Rheum. 2009) 3 23
  5. Osteogenic protein-1 with transforming growth factor-beta1: potent inducer of chondrogenesis of synovial mesenchymal stem cells in vitro. (PMID: 18040638) Miyamoto C. … Shindo H. (J Orthop Sci 2007) 3 23

Products for ACAN Gene

Sources for ACAN Gene

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