Acan
Gene Detail

Symbol Name ID

Acan aggrecan MGI:99602

Synonyms

Agc1, 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

Mammalian homology

human; rat; cattle; dog, domestic    (Mammalian Orthology)
Comparative Map (Mouse/Human Acan ± 2 cM)

Gene Tree: Acan

Human ortholog

ACAN aggrecan NCBI Gene ID 176
Human Synonyms: AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK
Human Chr15:89346674-89418585 bp, + strand Reference GRCh37.p2 Primary Assembly
Human Diseases Associated with Human ACAN (3)

Alleles and phenotypes

All alleles(7) : Targeted(5) Spontaneous(2)
 

Mutations in this gene result in dwarfism, skeletal abnormalities, and cranial facial defects. Neonatal death is due to pulmonary hypoplasia.

 
Human Diseases Modeled Using Mouse Acan (1)    Alleles Annotated to Human Diseases(1)    Phenotype Images(3)

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: (92 records)
Data Summary: Results (104)    Tissues (28)    Images (36)
Theiler Stages: 17, 19, 20, 21, 22, 23, 24, 26, 28

Assay Type	Results
Immunohistochemistry	2
RNA in situ	82
Northern blot	15
RT-PCR	5

cDNA source data(38)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(55) Genomic(9) cDNA(40) Primer pair(4) Other(2)
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 Knockout Project Status	Acan

Sequences

Length	Strain/Species
genomic	11595	NCBI Gene Model | MGI Sequence Detail	61617	C57BL/6J
transcript	NM_007424	RefSeq | MGI Sequence Detail	7355	Not Specified
polypeptide	Q61282	UniProt | EBI | MGI Sequence Detail	2132	Not Applicable

All sequences(19) RefSeq(2) UniProt(1)

Polymorphisms

RFLP(3) : SNPs(392 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR016060	Complement control module
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
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:192518 Dwyer CA, et al., RPTPzeta/phosphacan is abnormally glycosylated in a model of muscle-eye-brain disease lacking functional POMGnT1. Neuroscience. 2012 Sep 18;220:47-61
All references(144)

Other accession IDs

MGD-MRK-16384, MGD-MRK-2027