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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 Ensembl 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

HCOP human homology predictions: ACAN
Gene Tree: Acan

Human
homologs
ACAN, aggrecan
Orthology source: HGNC

IDs:
NCBI Gene ID: 176
neXtProt AC: NX_P16112

Human Synonyms: AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK

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

Disease Associations: (3) Diseases Associated with Human ACAN

Mutations,
alleles, and
phenotypes
All mutations/alleles(9) : Chemically induced (ENU)(1) Spontaneous(2) Targeted(6)
Incidental mutations (data from Mutagenetix , APF , CvDC )
 
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 in Mice Using Acan (1)    Mutations Annotated to Human Diseases (1)    Phenotype Images(14)
Interactions
Acan interacts with 231 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
All GO classifications: (18 annotations)
Process cartilage condensation, cell adhesion, ...
Component basement membrane, extracellular region, ...
Function calcium ion binding, carbohydrate binding, ...
External Resources: FuncBase
Expression
Literature Summary: (110 records)
Data Summary: Results (151)    Tissues (47)    Images (61)    Tissue x Stage Matrix (view)
Assay TypeResults
Immunohistochemistry 20
RNA in situ 88
Northern blot 15
Western blot 16
RT-PCR 12
cDNA source data(39)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: GEISHA ACAN ; Xenbase acan ; ZFIN acana    NEW 
Molecular
reagents
All nucleic(59) Genomic(9) cDNA(41) Primer pair(6) Other(3)
Microarray probesets(3)
Other database
links
Ensembl Gene Model ENSMUSG00000030607 (Evidence)
Entrez Gene 11595 (Evidence)
UniGene 358571
DFCI TC1584170
DoTS DT.488919, DT.94174572
NIA Mouse Gene Index U008255
Consensus CDS Project CCDS21377.1
International Mouse Phenotyping Consortium Status Acan
Sequences
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 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 IPR000538 Link
InterPro IPR000436 Sushi/SCR/CCP
Protein Ontology PR:000003606 aggrecan core protein
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:222159 Li Y, et al., Global genetic analysis in mice unveils central role for cilia in congenital heart disease. Nature. 2015 May 28;521(7553):520-4
All references(167)
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
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory