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ACAN aggrecan [ Equus caballus (horse) ]

Gene ID: 100033876, updated on 8-Apr-2026
Official Symbol
ACANprovided by VGNC
Official Full Name
aggrecanprovided by VGNC
Primary source
VGNC:VGNC:14967
See related
Ensembl:ENSECAG00000007493
Gene type
protein coding
RefSeq status
MODEL
Organism
Equus caballus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Laurasiatheria; Perissodactyla; Equidae; Equus
Orthologs
all
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Try the new Transcripts and proteins table
See ACAN in Genome Data Viewer
Location:
chromosome: 1
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_12 current TB-T2T (GCF_041296265.1) 1 NC_091684.1 (106119258..106184438, complement)
RS_2024_08 previous assembly EquCab3.0 (GCF_002863925.1) 1 NC_009144.3 (95255524..95320479, complement)

Chromosome 1 - NC_091684.1Genomic Context describing neighboring genes Neighboring gene milk fat globule EGF and factor V/VIII domain containing Neighboring gene hyaluronan and proteoglycan link protein 3 Neighboring gene U6 spliceosomal RNA Neighboring gene interferon stimulated exonuclease gene 20

Go to nucleotide: Graphics FASTA GenBank

Related articles in PubMed

  1. Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses. de Andrade DGA, et al. Sci Rep, 2020 Sep 17. PMID 32943661, Free PMC Article
  2. Heterozygotes for ACAN dwarfism alleles in horses have reduced stature. Graves KT, et al. Anim Genet, 2020 Jun. PMID 32065671
  3. Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses. Eberth JE, et al. Anim Genet, 2018 Oct. PMID 30058072
  4. Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony. Metzger J, et al. Mamm Genome, 2017 Apr. PMID 27942904
  5. Chondrogenic effects of exogenous retinoic acid or a retinoic acid receptor antagonist (LE135) on equine chondrocytes and bone marrow-derived mesenchymal stem cells in monolayer culture. Henderson SE, et al. Am J Vet Res, 2011 Jul. PMID 21728848

See all (10) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses.
    Title: Evaluation of a new variant in the aggrecan gene potentially associated with chondrodysplastic dwarfism in Miniature horses.
  2. Heterozygotes for ACAN dwarfism alleles in horses have reduced stature.
    Title: Heterozygotes for ACAN dwarfism alleles in horses have reduced stature.
  3. Aggrecan (ACAN) was a candidate gene in that region, and exons were sequenced to compare DNA sequences for dwarf and non-dwarf horses. Sequencing led to the discovery of variants in exons 2, 6, 7 and 15 associated with dwarfism.
    Title: Multiple alleles of ACAN associated with chondrodysplastic dwarfism in Miniature horses.
  4. he dwarf Miniature Shetland pony had the homozygous mutant genotype C/C of the ACAN:g.94370258G>C variant and the normal parents were heterozygous G/C. An unaffected full sib and 3/5 unaffected half-sibs were heterozygous G/C for the ACAN:g.94370258G>C variant. In summary, we could demonstrate a dwarf phenotype in a miniature pony breed perfectly associated with a missense mutation within the ACAN gene.
    Title: Whole-genome sequencing reveals a potential causal mutation for dwarfism in the Miniature Shetland pony.
  5. At 0.1 and 1 microM concentrations, LE135 weakly but significantly increased chondral morphology scores, compared to untreated controls. Lack of aggrecan expression and lack of increased CII:CI ratio, compared to controls, did not affect chondrogenesis.
    Title: Chondrogenic effects of exogenous retinoic acid or a retinoic acid receptor antagonist (LE135) on equine chondrocytes and bone marrow-derived mesenchymal stem cells in monolayer culture.
  6. degenerative suspensory ligament desmitis ligaments showed a 15-fold increase in aggrecan compared to normal
    Title: Biochemical identification and immunolocalizaton of aggrecan, ADAMTS5 and inter-alpha-trypsin-inhibitor in equine degenerative suspensory ligament desmitis.
Submit: New GeneRIF Correction

Markers

Homology

Gene Ontology Provided by RefSeq

Function Evidence Code Pubs
enables calcium ion binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
enables hyaluronic acid binding IEA
Inferred from Electronic Annotation
more info
 PubMed 
Process Evidence Code Pubs
involved_in cell adhesion IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in central nervous system development IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in glial cell differentiation IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in positive regulation of neuroblast proliferation IEA
Inferred from Electronic Annotation
more info
 PubMed 
involved_in skeletal system development IEA
Inferred from Electronic Annotation
more info
 PubMed 
Component Evidence Code Pubs
located_in perineuronal net IEA
Inferred from Electronic Annotation
more info
 PubMed 
located_in synapse IEA
Inferred from Electronic Annotation
more info
 PubMed 
Preferred Names
aggrecan core protein

NEW Try the new Transcript table

RefSeqs of Annotated Genomes: GCF_041296265.1-RS_2024_12

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference TB-T2T Primary Assembly

Genomic

  1. NC_091684.1 Reference TB-T2T Primary Assembly

    Range
    106119258..106184438 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005602799.3 → XP_005602856.3  aggrecan core protein isoform X1

    UniProtKB/TrEMBL
    F7C3C6

  2. XM_023650286.2 → XP_023506054.2  aggrecan core protein isoform X2

    UniProtKB/TrEMBL
    F7C3C6
Nucleotide Protein
Heading Accession and Version

Gene LinkOut

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Molecular Biology Databases
Research Materials