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Acan
Gene Detail
 Symbol
Name
ID
Acan
aggrecan
MGI:99602
Synonyms Agc1, b2b183Clo, Cspg1
Feature Type protein coding gene
Genetic Map
Chromosome 7
44.88 cM
Detailed Genetic Map ± 1 cM


Mapping data(12)
Sequence Map
Chr7:79053483-79115099 bp, + strand
From NCBI annotation of GRCm38

  61617 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:137204  Vertebrate Homology Class
1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle

Gene Tree: Acan

Mutations,
alleles, and
phenotypes
All mutations/alleles(8) : Chemically induced (ENU)(1) Spontaneous(2) Targeted(5)
Incidental mutations (data from Mutagenetix , APF )
 
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.
 
Human Diseases Modeled Using Mouse Acan (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(10)
Interactions
Acan interacts with 232 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process cartilage condensation, cell adhesion, ...
Component basement membrane, extracellular matrix, ...
Function calcium ion binding, carbohydrate binding, ...
External Resources: FuncBase
Expression
Literature Summary: (98 records)
Data Summary: Results (126)    Tissues (42)    Images (58)
Theiler Stages: 17, 19, 20, 21, 22, 23, 24, 25, 26, 28
Assay TypeResults
Immunohistochemistry 20
RNA in situ 86
Northern blot 15
RT-PCR 5
cDNA source data(39)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(56) Genomic(9) cDNA(41) Primer pair(4) Other(2)
Microarray probesets(3)
Other database
links
Ensembl Gene ModelENSMUSG00000030607 (Evidence)
Entrez Gene11595 (Evidence)
UniGene358571
DFCITC1584170
DoTSDT.488919, DT.94174572
NIA Mouse Gene IndexU008255
Consensus CDS ProjectCCDS21377.1
International Mouse Knockout Project StatusAcan
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic 11595 NCBI Gene Model | MGI Sequence Detail 61617 C57BL/6J ±  kb
transcript NM_007424 RefSeq | MGI Sequence Detail 7355 Not Specified 
polypeptide Q61282 UniProt | EBI | MGI Sequence Detail 2132 Not Applicable 

For the selected sequences
All sequences(21) RefSeq(4) UniProt(1)
Polymorphisms RFLP(3) : SNPs within 2kb(535 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR001304 C-type lectin
InterPro IPR018378 C-type lectin, conserved site
InterPro IPR016187 C-type lectin fold
InterPro IPR016186 C-type lectin-like
InterPro IPR007110 Immunoglobulin-like domain
InterPro IPR013783 Immunoglobulin-like fold
InterPro IPR003006 Immunoglobulin/major histocompatibility complex, conserved site
InterPro IPR013106 Immunoglobulin V-set
InterPro IPR003596 Immunoglobulin V-set, subgroup
InterPro IPR000538 Link
InterPro IPR000436 Sushi/SCR/CCP
Protein Ontology PR:000003606 aggrecan core protein
Graphical View of Protein Domain Structure
References (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:204197 Brooks JM, et al., A molecular mechanism regulating the timing of corticogeniculate innervation. Cell Rep. 2013 Nov 14;5(3):573-81
All references(152)
Disease annotation references (2)
Other
accession IDs
MGD-MRK-16384, MGD-MRK-2027, MGI:5311023

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
07/23/2014
MGI 5.19
The Jackson Laboratory