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Acan Gene Detail
Summary
  • Symbol
    Acan
  • Name
    aggrecan
  • Synonyms
    Agc1, b2b183Clo, Cspg1
  • Feature Type
    protein coding gene
  • IDs
    MGI:99602
    NCBI Gene: 11595
  • Gene Overview
    MyGene.info: ACAN
Location & Maps
more
  • Sequence Map
    Chr7:79053483-79115099 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      61617 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 7, 44.88 cM
  • Mapping Data
    12 experiments
Homology
more
  • Human Ortholog
    ACAN, aggrecan
  • Vertebrate Orthologs
    5
  • Human Ortholog
    ACAN, aggrecan
    Orthology source: HGNC
  • Synonyms
    AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK
  • Links
    NCBI Gene ID: 176
    neXtProt AC: NX_P16112

  • Chr Location
    15q26.1; chr15:88803442-88875354 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with Acan mouse models; 3 with human ACAN associations

Human Disease Mouse Models
       Achondroplasia; ACH   OMIM: 100800 View 1 model
       Osteochondritis Dissecans, Short Stature, and Early-Onset Osteoarthritis;   OMIM: 165800
Spondyloepimetaphyseal Dysplasia, Aggrecan Type   OMIM: 612813
Spondyloepiphyseal Dysplasia, Kimberley Type; SEDK   OMIM: 608361
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    54 phenotypes from 7 alleles in 7 genetic backgrounds
    14 images
    45 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    13
  • Chemically induced (ENU)
    2
  • Chemically induced (other)
    1
  • Radiation induced
    2
  • Spontaneous
    2
  • Targeted
    6
  • Genomic Mutations
    3 involving Acan
  • Incidental Mutations
Spontaneous mutations in this gene lead to dwarfism, cartilage, skeletal and limb anomalies, craniofacial defects, hearing loss and neonatal death due to respiratory failure. Homozygotes for an ENU-induced allele show cardiomyopathy as well as cleft palate, disproportionate dwarfism and brachypodia.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000058542 VEGA Gene Model | MGI Sequence Detail 61617 C57BL/6J ±  kb
transcript OTTMUST00000143752 VEGA | MGI Sequence Detail 7355 Not Applicable  
polypeptide OTTMUSP00000074932 VEGA | MGI Sequence Detail 2132 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    532 from dbSNP Build 142
  • RFLP
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 59
    Genomic 9
    cDNA 41
    Primer pair 6
    Other 3

    Microarray probesets 3
Other
Accession IDs
less
MGD-MRK-16384, MGD-MRK-2027, MGI:5311023
References
more
  • Summaries
    All 184
    Developmental Gene Expression 123
    Diseases 2
    Gene Ontology 10
    Phenotypes 45
  • Earliest
    J:5952 Rittenhouse E, et al., Cartilage matrix deficiency (cmd): a new autosomal recessive lethal mutation in the mouse. J Embryol Exp Morphol. 1978 Feb;43:71-84
  • Latest
    J:234901 Potter PK, et al., Novel gene function revealed by mouse mutagenesis screens for models of age-related disease. Nat Commun. 2016;7:12444

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
09/27/2016
MGI 6.05
The Jackson Laboratory