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Acan Gene Detail
Summary
  • Symbol
    Acan
  • Name
    aggrecan
  • Synonyms
    Agc1, b2b183Clo, Cspg1
Location &
Maps
more
  • Sequence Map
    Chr7:78703231-78764847 bp, + strand
    From Ensembl annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 7, 44.88 cM
  • Mapping Data
    12 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1982 from dbSNP Build 142
  • Strain Annotations
    18
  • RFLP
    3
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_99602
 protein coding gene Chr7:78702974-78764847 (+)
129S1/SvImJ MGP_129S1SvImJ_G0032383
 protein coding gene Chr7:80903788-80966623 (+)
A/J MGP_AJ_G0032362
 protein coding gene Chr7:79056181-79118057 (+)
AKR/J MGP_AKRJ_G0032298
 protein coding gene Chr7:80742986-80808225 (+)
BALB/cJ MGP_BALBcJ_G0032374
 protein coding gene Chr7:78754160-78816523 (+)
C3H/HeJ MGP_C3HHeJ_G0032087
 protein coding gene Chr7:81411648-81472853 (+)
C57BL/6NJ MGP_C57BL6NJ_G0032866
 protein coding gene Chr7:84099582-84162337 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0029874
 protein coding gene Chr7:81606438-81668590 (+)
CAST/EiJ MGP_CASTEiJ_G0031415
 protein coding gene Chr7:72266960-72331976 (+)
CBA/J MGP_CBAJ_G0032053
 protein coding gene Chr7:86894475-86969374 (+)
DBA/2J MGP_DBA2J_G0032208
 protein coding gene Chr7:77640512-77701926 (+)
FVB/NJ MGP_FVBNJ_G0032163
 protein coding gene Chr7:77542998-77607315 (+)
LP/J MGP_LPJ_G0032289
 protein coding gene Chr7:82158759-82221592 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0032200
 protein coding gene Chr7:87120669-87183921 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0032884
 protein coding gene Chr7:80192486-80260863 (+)
PWK/PhJ MGP_PWKPhJ_G0031135
 protein coding gene Chr7:70793576-70858066 (+)
SPRET/EiJ MGP_SPRETEiJ_G0030976
 protein coding gene Chr7:67185196-67250110 (+)
WSB/EiJ MGP_WSBEiJ_G0031533
 protein coding gene Chr7:80518797-80580851 (+)



Homology
more
  • Human Ortholog
    ACAN, aggrecan
  • Vertebrate Orthologs
    4
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    ACAN, aggrecan
  • Synonyms
    AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD
  • Links
    NCBI Gene ID: 176
    neXtProt AC: NX_P16112
    UniProt: P16112

  • Chr Location
    15q26.1; chr15:88803436-88875353 (+)  GRCh38
Human Diseases
more
  • Diseases
    1 with Acan mouse models; 1 with human ACAN associations

Human Disease Mouse Models
      
IDs
 View 1 model
      
IDs
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    2 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    57 phenotypes from 10 alleles in 10 genetic backgrounds
    1 phenotype from multigenic genotypes
    14 images
    134 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.
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
less
  • All GO Annotations
    29
  • GO References
    14
Molecular Function

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

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    1032
  • Tissues
    108
  • cDNA Data
    43
  • Literature Summary
    199
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic ENSMUSG00000030607 Ensembl Gene Model | MGI Sequence Detail 61617 C57BL/6J ±  kb
    transcript ENSMUST00000032835 Ensembl | MGI Sequence Detail 7355 Not Applicable  
    polypeptide ENSMUSP00000032835 Ensembl | MGI Sequence Detail 2132 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 93
      Genomic 9
      cDNA 46
      Primer pair 23
      Other 15

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGD-MRK-16384, MGD-MRK-2027, MGI:5311023
    References
    more
    • Summaries
      All 376
      Developmental Gene Expression 199
      Diseases 3
      Gene Ontology 14
      Phenotypes 134
    • 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(1):71-84
    • Latest
      J:361631 Bian F, et al., The G protein-coupled receptor ADGRG6 maintains mouse growth plate homeostasis through IHH signaling. J Bone Miner Res. 2024 Oct 29;39(11):1644-1658
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    03/25/2025
    MGI 6.24     		The Jackson Laboratory