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ACAN Gene

protein-coding   GIFtS: 64
GCID: GC15P089346

Aggrecan

(Previous names: chondroitin sulfate proteoglycan 1, aggrecan 1)
(Previous symbols: MSK16, CSPG1, AGC1)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
aggrecan1 2     Aggrecan 11
AGC11 2 3 5     Aggrecan Proteoglycan1
CSPG11 2 3 5     AGCAN2
MSK161 2 3 5     CSPGCP2
Chondroitin Sulfate Proteoglycan 11 3     Aggrecan Core Protein2
Cartilage-Specific Proteoglycan Core Protein2 3     Large Aggregating Proteoglycan2
Chondroitin Sulfate Proteoglycan Core Protein 12 3     CSPCP3
SEDK2 5     

External Ids:    HGNC: 3191   Entrez Gene: 1762   Ensembl: ENSG000001577667   OMIM: 1557605   UniProtKB: P161123   

Export aliases for ACAN gene to outside databases

Previous GC identifers: GC15P087148 GC15P065458


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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, and familial osteochondritis dissecans. GO annotations related to this gene include carbohydrate binding and hyaluronic acid binding. An important paralog of this gene is HAPLN4.

UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112
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 Wiki entry for ACAN (Aggrecan) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000015.10  NT_010194.18  NC_018926.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ACAN gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidACAN promoter sequence
   Search Chromatin IP Primers for ACAN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ACAN


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q26.1   Ensembl cytogenetic band:  15q26.1   HGNC cytogenetic band: 15q26.1

ACAN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAN gene location

GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15P089346:  view genomic region     (about GC identifiers)

Start:
89,346,674 bp from pter      End:
89,418,585 bp from pter
Size:
71,912 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112 (See protein sequence)
Recommended Name: Aggrecan core protein precursor  
Size: 2415 amino acids; 250193 Da
Subunit: Interacts with FBLN1 (By similarity). Interacts with COMP
Developmental stage: Expression was detected in chondrocytes throughout the developing skeleton
1 PDB 3D structure from and Proteopedia for ACAN:
4MD4 (3D)    
Secondary accessions: Q13650 Q9UCD3 Q9UCP4 Q9UCP5 Q9UDE0
Alternative splicing: 3 isoforms:  P16112-1   P16112-2   P16112-3   

Explore the universe of human proteins at neXtProt for ACAN: NX_P16112

Explore proteomics data for ACAN at MOPED

Post-translational modifications: 

  • 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 aggrecanase1
  • Glycosylation2 at Asn126, Asn239, Asn333, Thr371, Thr376, Asn387, Asn434, Asn602, Asn657, Asn737,
                                 Asn1898
  • Modification sites at PhosphoSitePlus

  • See ACAN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001126.3  NP_037359.3  

    ENSEMBL proteins: 
     ENSP00000453003   ENSP00000453499   ENSP00000341615   ENSP00000453342   ENSP00000453581  
     ENSP00000452682   ENSP00000387356  
    Reactome Protein details: P16112

    ACAN Human Recombinant Protein Products:

    EMD Millipore Purified and/or Recombinant ACAN Protein
    R&D Systems Recombinant & Natural Proteins for ACAN (Aggrecan)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec
    OriGene Custom Protein Services for ACAN
    GenScript Custom Purified and Recombinant Proteins Services for ACAN
    Novus Biologicals ACAN Proteins
    Novus Biologicals ACAN Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Browse Proteins at Cloud-Clone Corp.

    ACAN Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of ACAN
    R&D Systems Antibodies for ACAN (Aggrecan)
    OriGene Antibodies for ACAN
    OriGene Custom Antibody Services for ACAN
    Novus Biologicals ACAN Antibodies
    Abcam antibodies for ACAN
    Browse Antibodies at Cloud-Clone Corp.
    ThermoFisher Antibody for ACAN
    LSBio Antibodies in human, mouse, rat for ACAN

    ACAN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for ACAN
    R&D Systems ELISAs for ACAN (Aggrecan)         (see all)
    GenScript Custom Assay Services for ACAN
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    VSET: Immunoglobulin superfamily / V-set domain containing
    HYALECTAN: Proteoglycans / Extracellular Matrix : Hyalectans

    Selected InterPro protein domains (see all 13):
     IPR000742 EG-like_dom
     IPR000436 Sushi_SCR_CCP
     IPR013783 Ig-like_fold
     IPR013106 Ig_V-set
     IPR000538 Link

    Graphical View of Domain Structure for InterPro Entry P16112

    ProtoNet protein and cluster: P16112

    Selected Blocks protein domains (see all 6):
    IPB000436 Sushi domain/SCR domain/CCP module
    IPB000538 Link domain
    IPB002353 Type II antifreeze protein signature
    IPB003599 Immunoglobulin subtype
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112
    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
    Similarity: Belongs to the aggrecan/versican proteoglycan family
    Similarity: Contains 1 C-type lectin domain
    Similarity: Contains 1 EGF-like domain
    Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain
    Similarity: Contains 4 Link domains
    Similarity: Contains 1 Sushi (CCP/SCR) domain


    ACAN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PGCA_HUMAN, P16112
    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): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005201extracellular matrix structural constituent TAS1569188
    GO:0005509calcium ion binding ----
    GO:0005515protein binding IPI17588949
    GO:0005540hyaluronic acid binding IEA--
    GO:0030246carbohydrate binding IEA--
         
    ACAN for ontologies           About GeneDecksing


    Phenotypes:
         Selected MGI mutant phenotypes (inferred from 6 alleles(MGI details for Acan) (see all 16):
     behavior/neurological  cardiovascular system  craniofacial  digestive/alimentary  growth/size/body 
     hearing/vestibular/ear  homeostasis/metabolism  immune system  limbs/digits/tail  liver/biliary system 
     mortality/aging  muscle  nervous system  normal  respiratory system 

    ACAN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ACAN
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ACAN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ACAN
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ACAN

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat ACAN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACAN (see all 38):
    hsa-miR-607 hsa-miR-4254 hsa-miR-4328 hsa-miR-25 hsa-miR-124 hsa-miR-3613-3p hsa-miR-506 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidACAN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for ACAN
    Predesigned siRNA for gene silencing in human, mouse, rat ACAN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for ACAN

    Clone
    Products:
         
    OriGene clones in human, mouse for ACAN (see all 16)
    OriGene ORF clones in mouse, rat for ACAN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ACAN (NM_013227)
    Sino Biological Human cDNA Clone for ACAN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACAN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAN

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for ACAN
    ESI BIO PureStem Progenitor for ACAN: 
    PureStem 7PEND24, NCr-fac & Meso-prx Progenitor
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PGCA_HUMAN, P16112: Secreted, extracellular space, extracellular matrix (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular4
    golgi apparatus4
    lysosome4
    vacuole4
    cytoskeleton2
    nucleus2
    endoplasmic reticulum1
    plasma membrane1

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005578proteinaceous extracellular matrix IEA--
    GO:0005604basement membrane ----
    GO:0005796Golgi lumen TAS--
    GO:0031012colocalizes with extracellular matrix IDA--

    ACAN for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ACAN About   (see all 11)  
    See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1MPS VI - Maroteaux-Lamy syndrome
    MPS VI - Maroteaux-Lamy syndrome0.45
    MPS IIIB - Sanfilippo syndrome B0.45
    MPS IIIC - Sanfilippo syndrome C0.45
    MPS II - Hunter syndrome0.45
    MPS IV - Morquio syndrome A0.45
    Glycosaminoglycan metabolism0.45
    Mucopolysaccharidoses0.45
    MPS IV - Morquio syndrome B0.45
    2Keratan sulfate/keratin metabolism
    Keratan sulfate/keratin metabolism0.85
    Keratan sulfate degradation0.00
    Keratan sulfate biosynthesis0.85
    3Degradation of the extracellular matrix
    Degradation of the extracellular matrix0.43
    Extracellular matrix organization0.34
    4Metabolism
    Metabolism0.38
    5Cell adhesion ECM remodeling
    Metalloproteases in connective tissue degradation0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for ACAN
        Articular Cartilage Extracellular Matrix

    Selected Downloadable PowerPoint Slides of GeneGlobe Pathway Central Maps for ACAN (see all 13)
        MAPK Signaling
    Molecular Mechanisms of Cancer
    PTEN Pathway
    Transendothelial Migration of Leukocytes
    UPA-UPAR Pathway

    1 GeneGo (Thomson Reuters) Pathway for ACAN
        Cell adhesion Cell-matrix glycoconjugates

    2 BioSystems Pathways for ACAN
        Spinal Cord Injury
    Endochondral Ossification


    4 Reactome Pathways for ACAN
        ECM proteoglycans
    Keratan sulfate biosynthesis
    Keratan sulfate degradation
    Degradation of the extracellular matrix



    ACAN for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAN: 
              Terminal Differentiation Markers in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for ACAN

    1 Interacting protein for ACAN (P161123) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TNRQ927523I2D: score=2 
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 15):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development NAS1569188
    GO:0001502cartilage condensation ----
    GO:0002063chondrocyte development ----
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006508proteolysis NAS1569188

    ACAN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ACAN (PGCA)

    1 HMDB Compound for ACAN    About this table
    CompoundSynonyms CAS #PubMed Ids
    Hyaluronic acidhyaluronic acid 9004-61-9--

    1 DrugBank Compound for ACAN    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    GM6001-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for ACAN gene (see all 34)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    keratan sulfate 77.9 13 14613270 (1), 7556944 (1), 1569188 (1), 10399179 (1) (see all 9)
    neurocan 72.1 6 11038354 (2), 15590670 (1), 8907541 (1), 7806222 (1) (see all 5)
    glycosaminoglycan 69.9 17 16188468 (2), 18040638 (1), 19464053 (1), 9854027 (1) (see all 10)
    alginate 69.8 9 15979007 (3), 11037878 (2), 18686480 (1), 15250049 (1) (see all 6)
    chondroitin sulfate 68.1 25 1339285 (3), 16425147 (3), 8226878 (2), 9153261 (1) (see all 11)
    safranin o 65.5 1 10857790 (1)
    adamalysin 65.4 1 17430884 (1)
    hyaluronic acid 63.4 17 8500595 (2), 8298252 (2), 12429048 (1), 10399179 (1) (see all 9)
    dermatan sulfate 60.6 6 10399179 (2), 15679869 (1), 17532798 (1), 12844226 (1)
    tgf beta1 59.5 2 18040638 (1), 15979007 (1)



    ACAN for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ACAN gene (2 alternative transcripts): 
    NM_001135.3  NM_013227.3  

    Unigene Clusters for ACAN:

    Aggrecan
    Hs.2159  [show with all ESTs], Hs.616395  [show with all ESTs]
    Unigene Representative Sequences: NM_013227, DA596050
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000558207(uc002bmx.3) ENST00000559004 ENST00000352105 ENST00000561243
    ENST00000560601 ENST00000558704 ENST00000558604 ENST00000439576(uc010upo.1 uc010upp.1 uc002bna.2)

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat ACAN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate ACAN (see all 38):
    hsa-miR-607 hsa-miR-4254 hsa-miR-4328 hsa-miR-25 hsa-miR-124 hsa-miR-3613-3p hsa-miR-506 hsa-miR-92b
    SwitchGear 3'UTR luciferase reporter plasmidACAN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for ACAN
    Predesigned siRNA for gene silencing in human, mouse, rat ACAN
    Clone
    Products:
         
    OriGene clones in human, mouse for ACAN (see all 16)
    OriGene ORF clones in mouse, rat for ACAN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ACAN (NM_013227)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ACAN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ACAN
    Primer
    Products:
        
    Browse OriGene qPCR
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat ACAN
      QuantiTect SYBR Green Assays in human, mouse, rat ACAN
      QuantiFast Probe-based Assays in human, mouse, rat ACAN

    Additional mRNA sequence: U13192.1 

    11 DOTS entries:

    DT.97847777  DT.99998115  DT.100817712  DT.99944820  DT.99953727  DT.99947875  DT.95157471  DT.75118357 
    DT.99950347  DT.95302403  DT.99950968 

    Selected AceView cDNA sequences (see all 206):

    BF345576 BQ181926 CA445896 CA447468 BQ446761 BQ446640 CN479731 CA447713 
    BQ182258 X80278 BQ007885 CN480007 AI340067 L12234 BQ044975 BQ181248 
    BQ183753 BQ181402 AI270694 AI312888 BQ004267 AU279561 BQ004619 AU279625 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ACAN (see all 7)    About this scheme

    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:                                      -                                                                                                                     

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


    ECgene alternative splicing isoforms for ACAN

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

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    ACAN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCCACCATCC
    ACAN Expression
    About this image


    ACAN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 55 entries
             Chondrocytes Nasal Capsule
             Matrix-induced autologous cultured chondrocytes (MACI)
             HyStem+BMP4-induced 4D20.8 cells
             Knee Normal Human Articular chondrocytes (knNHAC)   
             fetal cartilage   
     
     Bone (Muscoskeletal System)    fully expand to see all 38 entries
             Chondrocytes Stylopod Epiphyseal End
             Mandibular Condyle
             HyStem+BMP4-induced 4D20.8 cells
     
     Limb (Muscoskeletal System)    fully expand to see all 9 entries
             Mesenchymal Condensate Cells Zeugopod
     
     Adipose (Muscoskeletal System)
             HyStem+BMP4-induced SM30 cells
     
     Head Mesenchyme (Muscoskeletal System)
             Chondrocytes Branchial Arch 2
    ACAN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ACAN Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.2159 Hs.616395

    UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112
    Tissue specificity: Restricted to cartilages

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ACAN: 
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ACAN gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Acan5 aggrecan   --   7 (44.88 cM) 79053483 
    chicken
    (Gallus gallus)
    Aves ACAN6
    Gallus gallus aggrecan (ACAN), mRNA.
    51(a)
    1 ↔ 1
    10(12540336-12583712)
    lizard
    (Anolis carolinensis)
    Reptilia ACAN6
    aggrecan
    45(a)
    1 ↔ 1
    GL344124.1(1177-60228)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia acan1 aggrecan 59(n)
    59.95(a)
      100491091  XM_002932251.2  XP_002932297.2 
    zebrafish
    (Danio rerio)
    Actinopterygii acanb1 aggrecan b 60.63(n)
    61.69(a)
      559593  XM_682950.4  XP_688042.4 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ACAN gene
    HAPLN42  HAPLN12  HAPLN32  BCAN2  CLEC19A2  NCAN2  HAPLN22  VCAN2  
    16 SIMAP similar genes for ACAN using alignment to 8 protein entries:     PGCA_HUMAN (see all proteins):
    DKFZp761L191    BCAN    VCAN    F9    CRB1    NCAN
    NOTCH3    REG1A    CSPG3 variant protein    HAPLN3    HAPLN2    HAPLN1
    CLEC4D    REG1B    HAPLN4    HABP2

    ACAN for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for ACAN (see all 2023)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0637654
    Osteochondritis dissecans short stature and early-onset osteoarthritis (OD)4--see VAR_0637652 V M mis40--------
    VAR_0630534
    Spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN)4--see VAR_0630532 D N mis40--------
    rs714624611,2
    C--65463195(+) GTGGA-/GTGT  
     
    /GTGTGT
    GTGTG
    4 -- int1 cds11NA 2
    rs113582281,2
    C--65473298(+) CTCTGA/-AAAAA 2 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs116331571,2
    C,H--65511145(+) GAGACC/TACTGC 4 T syn1 ese31Minor allele frequency- T:0.00NA 2
    rs620235191,2
    C,F--65511316(+) GAGACT/CGCTGC 4 /T syn14Minor allele frequency- C:0.39NA EU 441
    rs1999034981,2
    F--65511716(+) AGACTG/ACTGCC 4 /T /A mis11Minor allele frequency- A:0.04EU 300
    rs2005362401,2
    F--65511736(+) GAGGAC/GATCAG 4 D E mis11Minor allele frequency- G:0.03EU 169
    rs2015007181,2
    F--65511773(+) AGACTG/ACTGCC 4 /T /A mis11Minor allele frequency- A:0.17EU 201
    rs2000898651,2
    F--65511830(+) AGACTG/ACTGCC 4 /T /A mis11Minor allele frequency- A:0.13EU 225

    HapMap Linkage Disequilibrium report for ACAN (89346674 - 89418585 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 10 variations for ACAN:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2394182CNV Deletion18987734
    esv1164464CNV Deletion17803354
    nsv820918CNV Deletion20802225
    esv2749997CNV Deletion23290073
    esv1510077CNV Deletion17803354
    esv2749995CNV Deletion23290073
    nsv1653CNV Loss18451855
    nsv904478CNV Loss21882294
    esv28667CNV Loss19812545
    nsv525114CNV Loss19592680

    Human Gene Mutation Database (HGMD): ACAN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ACAN
    DNA2.0 Custom Variant and Variant Library Synthesis for ACAN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 155760   
    OMIM disorders: 608361  612813  165800  
    UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112
  • 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. 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. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • 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. Note=The disease
    is caused by mutations affecting the gene represented in this entry

  • Selected diseases for ACAN (see all 51):    
    About MalaCards
    osteochondritis dissecans    familial osteochondritis dissecans    spondyloepimetaphyseal dysplasia, aggrecan type    spondyloepiphyseal dysplasia, kimberley type
    macrocephaly with multiple epiphyseal dysplasia and distinctive facies    skeletal dysplasias    odontogenic myxoma    osteochondrosis
    spondyloepimetaphyseal dysplasia    exotropia    multiple epiphyseal dysplasia    pseudoachondroplasia
    tendinopathy    achondroplasia    exostosis    spinal stenosis
    short stature    osteochondrodysplasia    dwarfism    spondylitis

    7 diseases from the University of Copenhagen DISEASES database for ACAN:
    Osteoarthritis     Degenerative disc disease     Chondrosarcoma     Rheumatoid arthritis
    Arthropathy     Osteochondrodysplasia     Osteochondritis dissecans

    ACAN for disorders           About GeneDecksing

    Selected Novoseek inferred disease relationships for ACAN gene (see all 18)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteoarthritis 77.8 23 8195777 (2), 16583443 (2), 16188468 (2), 7533495 (2) (see all 16)
    psach 59.3 3 1670752 (3)
    multiple epiphyseal dysplasia 55.6 1 12205105 (1)
    arthritis 53.9 9 14613270 (3), 8941646 (3), 8603731 (1), 10438522 (1) (see all 5)
    inflammatory joint disease 46.4 1 9485085 (1)
    spondyloepiphyseal dysplasia 44.9 3 12205105 (1), 16080123 (1)
    collagen fibril 35.7 2 8195777 (1), 8456642 (1)
    chondrosarcoma 32.4 1 8226878 (1)
    skeletal dysplasia 31.8 1 1670752 (1)
    dwarfism 28.9 1 12975605 (1)

    Genetic Association Database (GAD): ACAN
    Human Genome Epidemiology (HuGE) Navigator: ACAN (20 documents)

    Export disorders for ACAN gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ACAN gene, integrated from 10 sources (see all 364):
    (articles sorted by number of sources associating them with ACAN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms. (PubMed id 1985970)1, 2, 3, 9 Doege K.J.... Yamada Y. (J. Biol. Chem. 1991)
    2. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. (PubMed id 16080123)1, 2, 9 Gleghorn L.... Wallis G. (Am. J. Hum. Genet. 2005)
    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. (PubMed id 1569188)1, 2, 9 Sandy J.D.... Lohmander L.S. (J. Clin. Invest. 1992)
    4. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PubMed id 21998595)1, 4 N'Diaye A....Haiman C.A. (PLoS Genet. 2011)
    5. Variable number of tandem repeat polymorphisms (VNTRs) in the ACAN gene associated with pectus excavatum. (PubMed id 21039430)1, 4 Stacey M.W....Proud V.K. (Clin. Genet. 2010)
    6. The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. (PubMed id 20546612)1, 4 Zhao J....Grant S.F. (BMC Med. Genet. 2010)
    7. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    8. Identification of 15 loci influencing height in a Korean population. (PubMed id 19893584)1, 4 Kim J.J....Lee J.K. (J. Hum. Genet. 2010)
    9. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. (PubMed id 20137779)1, 2 Stattin E.L.... Aspberg A. (Am. J. Hum. Genet. 2010)
    10. Lumbar disk degeneration disease and aggrecan gene polymorphism in northern Iran. (PubMed id 20496110)1, 4 Mashayekhi F....Dolati P. (Biochem. Genet. 2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 176 HGNC: 319 AceView: AGC1 Ensembl:ENSG00000157766 euGenes: HUgn176
    ECgene: ACAN H-InvDB: ACAN

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for ACAN Pharmacogenomics, SNPs, Pathways
    Functional Glycomics Gateway - Glycan Bindinghttp://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_351

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ACAN gene:
    Search GeneIP for patents involving ACAN

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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