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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ACAN Gene

protein-coding   GIFtS: 62
GCID: GC15P089346

aggrecan

(Previous names: chondroitin sulfate proteoglycan 1, aggrecan 1 )
(Previous symbols: MSK16, CSPG1, AGC1)
 Explore 46 diseases affiliated with
ACAN via our new
 Human Malady Compendium 
Biological research products
for ACAN
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Aggrecan1     Chondroitin Sulfate Proteoglycan Core Protein 12 3
AGC11 2 3 5     SEDK2 5
CSPG11 2 3 5     Aggrecan 11
MSK161 2 3 5     AGCAN2
CSPGCP1 2     Aggrecan Core Protein2
Chondroitin Sulfate Proteoglycan 11 3     Large Aggregating Proteoglycan2
Cartilage-Specific Proteoglycan Core Protein2 3     CSPCP3

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACAN:
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)

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)


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000015.9  NC_018926.1  NT_010274.17  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ACAN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

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
Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)
Developmental stage: Expression was detected in chondrocytes throughout the developing skeleton
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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P16112

  • ACAN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000453003   ENSP00000453499   ENSP00000341615   ENSP00000453342   ENSP00000453581  
     ENSP00000452682   ENSP00000387356  
    Reactome Protein details: P16112
    Human Recombinant Protein Products: 
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    Novus Biologicals ACAN Proteins
    Novus Biologicals ACAN Lysate
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    Browse ProSpec Recombinant Proteins
    Browse Proteins at Uscn

    Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7):    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



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    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ACAN for domains           About GeneDecksing

    5/13 InterPro domains/families (see all 13):
     IPR007110 Ig-like_dom
     IPR016187 C-type_lectin_fold
     IPR003006 Ig/MHC_CS
     IPR003599 Ig_sub
     IPR000742 EG-like_dom

    Graphical View of Domain Structure for InterPro Entry P16112

    ProtoNet protein and cluster: P16112

    5/6 Blocks protein families (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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACAN
    8/38 QIAGEN miScript miRNA 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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAN

    Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (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


    Animal Models:
         14 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Acan):
     behavior/neurological  craniofacial  digestive/alimentary  growth/size  hearing/vestibular/ear 
     homeostasis/metabolism  immune system  limbs/digits/tail  liver/biliary system  mortality/aging 
     nervous system  normal  respiratory system  skeleton 

    ACAN for phenotypes           About GeneDecksing


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/9 super-pathways (see all 9About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1MPS IIIC - Sanfilippo syndrome C
    8/14 pathways (see all 14)
    MPS VI - Maroteaux-Lamy syndrome1.00
    MPS VII - Sly syndrome1.00
    MPS IIIC - Sanfilippo syndrome C1.00
    MPS IIIA - Sanfilippo syndrome A1.00
    MPS I - Hurler syndrome1.00
    MPS IIID - Sanfilippo syndrome D1.00
    Mucopolysaccharidoses1.00
    MPS IX - Natowicz syndrome1.00
    2Extracellular KSPG translocates to the lysosome for degradation
    Extracellular KSPG translocates to the lysosome for degradation1.00
    Keratan sulfate is cleaved from its proteoglycan by an unknown galactosidase1.00
    KSPG is secreted from the cell1.00
    Keratan sulfate degradation0.58
    3Cell adhesion_Cell-matrix glycoconjugates
    Cell adhesion_Cell-matrix glycoconjugates1.00
    Cell adhesion Cell-matrix glycoconjugates0.97
    4Keratan sulfate biosynthesis
    Keratan sulfate biosynthesis1.00
    Keratan sulfate/keratin metabolism0.84
    5Disease
    Disease1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    2 EMD Millipore Pathways for ACAN
        Cell adhesion Cell-matrix glycoconjugates
    Metalloproteases in connective tissue degradation

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


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

    1 BioSystems Pathway for ACAN 
        Endochondral Ossification

    5/22        Reactome Pathways for ACAN (see all 22)
        MPS VI - Maroteaux-Lamy syndrome
    Metabolism
    Disease
    Keratan sulfate/keratin metabolism
    MPS IIIA - Sanfilippo syndrome A



    ACAN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins 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): 5/27 biological process terms (GO ID links to tree view) (see all 27):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001501skeletal system development NAS1569188
    GO:0001502cartilage condensation ----
    GO:0001503ossification ----
    GO:0002063chondrocyte development ----
    GO:0005975carbohydrate metabolic process TAS--


    ACAN for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ACAN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for ACAN

    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

    10/34 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about ACAN / PGCA 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for ACAN gene (2 alternative transcripts): 
    NM_001135.3  NM_013227.3  

    Unigene Cluster for ACAN:

    Aggrecan
    Hs.2159  [show with all ESTs]
    Unigene Representative Sequence: NM_013227
    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)


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    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
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    Additional cDNA sequence: 

    AK290723.1 BC036445.1 BC150624.1 J05062.1 L12234.1 M55172.1 U13192.1 X17406.1 
    X80278.1 

    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 

    24/206 AceView cDNA sequences (see all 206):

    CA447713 AU279561 AI340067 CN480007 BQ181402 BQ181926 L12234 CA445896 
    CA445816 BQ181248 BQ004619 AU279625 BQ182050 BF345576 CA448514 BQ183753 
    BQ446761 CA411752 BQ182258 AI270694 X80278 CN479731 AI312888 BQ004267 

    GeneLoc Exon Structure

    5/7 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    ACAN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CCCACCATCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    ACAN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/42 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 42
    Tissue Anatomical Compartment CellCategory (developmental path)
    BoneAutopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneAutopod Epiphyseal EndPrechondrocytesBone, Cartilage
    BoneCaudal Endochondral BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneCervical VertebraeChondrocytesBone, Cartilage
    BoneEndochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneLumbar VertebraeChondrocytesBone, Cartilage
    BoneRostral Endochondral Facial BonesPrehypertrophic ChondrocytesBone, Cartilage
    BoneSacral VertebraeChondrocytesBone, Cartilage
    BoneStylopod Epiphyseal EndChondrocytesBone, Cartilage
    BoneStylopod Epiphyseal EndPrechondrocytesBone, Cartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 10/20 LifeMap Cells (see all 20
    NameCategory
    Articular chondrocyte-like cells (HyStem chondrogenic ...)Cartilage
    Osteoblast-like cells grown in a 3D culture system (Osteogenic different...)
    Osteoblast-like cells grown in monolayer (Osteogenic different...)
    Pelleted mesenchymal stem cells (Chondrogenic differe...)
    Chondrocyte-like cells (Direct differentiati...)Bone, Cartilage
    Mesoderm-like cells (Direct differentiati...)Mesoderm
    Posterior foregut-like cells (A scalable, suspensi...)
    HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage
    HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)Bone, Cartilage

    See ACAN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ACAN

    SOURCE GeneReport for Unigene cluster: Hs.2159

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

        SABiosciences Expression via Pathway-Focused PCR Arrays including ACAN: 
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              Stem Cells in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ACAN gene from 3/10 species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves ACAN1 aggrecan 59.41(n)
    52.3(a)
      395798  XM_001232949.2  XP_001232950.2 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    --
    73(a)
    46(a)
    1 ↔ many
    1 ↔ many
    AAWZ02041099(3-4360)
    GL344124.1(1177-60006)
    zebrafish
    (Danio rerio)
    Actinopterygii acana1 aggrecan a 53.3(n)
    50.71(a)
      497505  XM_681090.5  XP_686182.5 


    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)
    About This Section
    Paralogs for ACAN gene
    HAPLN12  HAPLN42  HAPLN32  BCAN2  NCAN2  VCAN2  HAPLN22  
    16 SIMAP similar genes for ACAN using alignment to 8 protein entries:     PGCA_HUMAN (see all proteins):
    NOTCH3    DKFZp761L191    NCAN    BCAN    VCAN    F9
    CRB1    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, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/1539 NCBI SNPs in ACAN are shown (see all 1539    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 15 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs754680921,2
    F,--65457383(+) GGCTTC/AGGTCA 2 -- us2k11Minor allele frequency- A:0.11WA 118
    rs129160581,2
    C,--65457513(+) GAGAGG/ATGGGT 2 -- us2k12Minor allele frequency- A:0.11NA 122
    rs760023651,2
    --65457620(+) GTCCCG/ACCCCC 2 -- us2k12Minor allele frequency- A:0.09NA EA 122
    rs64965241,2
    C,A,--65458478(+) TGTCCC/GGCCGC 2 -- us2k12Minor allele frequency- G:0.22CSA WA 120
    rs560885721,2
    C,--65458523(+) TGAGGA/GTGCAG 2 -- us2k10--------
    rs116358391,2
    C,F,A,H,--65458663(+) CTCTCC/GCGCCC 2 -- us2k1 trp31Minor allele frequency- G:0.12NA 120
    rs116355421,2
    C,F,H,--65458672(+) CCTGAG/ACGCAG 2 -- us2k11Minor allele frequency- A:0.12NA 120
    rs1120264031,2
    --65459268(+) TGTCTC/ACTTCC 2 -- int11Minor allele frequency- A:0.50CSA 2
    rs1131414371,2
    C,--65460072(+) ACCCTG/AGGGCT 2 -- int12Minor allele frequency- A:0.04WA 120
    rs790053501,2
    C,F,--65460293(+) TCTGGT/CTCTGT 2 -- int11Minor allele frequency- C:0.03EA 120

    HapMap Linkage Disequilibrium report for ACAN (89346674 - 89418585 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ACAN
         2 CNVs: 72349 43915
         1 Indel: 25574
    Human Gene Mutation Database (HGMD): ACAN

    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    ACAN for disorders           About GeneDecksing

    OMIM gene information: 155760   
    OMIM disorders: 608361  612813  165800  
    UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112
  • Defects in ACAN are the cause of 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
  • Defects in ACAN are the cause of 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
  • Defects in ACAN are the cause of osteochondritis dissecans short stature and early-onset osteoarthritis (OD)
  • [MIM:165800]. It is 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

    20/46 diseases for ACAN (see all 46):    About MalaCards
    spondyloepimetaphyseal dysplasia, aggrecan type    spondyloepiphyseal dysplasia, kimberley type    macrocephaly with multiple epiphyseal dysplasia and distinctive facies    osteochondritis dissecans
    multiple epiphyseal dysplasia    epiphyseal dysplasia    spondyloepiphyseal dysplasia    spinal stenosis
    short stature    degenerative disc disease    odontogenic myxoma    achondroplasia
    laryngeal squamous cell carcinoma    ankylosing spondylitis    semd    exotropia
    myxoma    squamous cell carcinoma    dwarfism    spondylitis

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

    10/18 Novoseek 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)

    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)
    About This Section

    PubMed articles for ACAN gene, integrated from 9 sources (see all 353):
    (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. (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. (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. (1992)
    4. A missense mutation in the aggrecan C-type lectin dom ain disrupts extracellular matrix interactions and causes dominant familial ost eochondritis dissecans. (PubMed id 20137779)1, 2 Stattin E.L....Aspberg A. (2010)
    5. A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. (PubMed id 19110214)1, 2 Tompson S.W.... Krakow D. (2009)
    6. Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan. (PubMed id 17588949)1, 2 Chen F.-H.... Lawler J. (2007)
    7. Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)1, 2 Liu T.... Smith R.D. (2005)
    8. Age-related changes in the content of the C-terminal region of aggrecan in human articular cartilage. (PubMed id 8611178)1, 2 Dudhia J....Bayliss M.T. (1996)
    9. Catabolism of aggrecan by explant cultures of human articular cartilage in the presence of retinoic acid. (PubMed id 7574678)1, 2 Ilic M.Z....Handley C.J. (1995)
    10. Analysis of aggrecan and tenascin gene expression in mouse skeletal tissues by northern and in situ hybridization using species specific cDNA probes. (PubMed id 7524681)1, 2 Glumoff V.... Vuorio E. (1994)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 176 HGNC: 319 AceView: AGC1 Ensembl:ENSG00000157766 euGenes: HUgn176
    ECgene: ACAN H-InvDB: ACAN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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.)
    About This Section
    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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