This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms ... See more...

Aliases for ACAN Gene

Aliases for ACAN Gene

  • Aggrecan 2 3 5
  • Chondroitin Sulfate Proteoglycan Core Protein 1 3 4
  • Cartilage-Specific Proteoglycan Core Protein 3 4
  • Chondroitin Sulfate Proteoglycan 1 2 4
  • Aggrecan Core Protein 3 4
  • CSPGCP 2 3
  • CSPG1 3 4
  • MSK16 3 4
  • AGC1 3 4
  • Large Aggregating Proteoglycan 3
  • Aggrecan Proteoglycan 2
  • Aggrecan 1 2
  • SSOAOD 3
  • AGCAN 3
  • CSPCP 4
  • SEDK 3
  • ACAN 5

External Ids for ACAN Gene

Previous HGNC Symbols for ACAN Gene

  • MSK16
  • CSPG1
  • AGC1

Previous GeneCards Identifiers for ACAN Gene

  • GC15P087148
  • GC15P089346
  • GC15P065458
  • GC15P088804
  • GC15P088807
  • GC15P088816
  • GC15P088817
  • GC15P088815
  • GC15P088814
  • GC15P088808
  • GC15P088809
  • GC15P088810
  • GC15P088811
  • GC15P088812

Summaries for ACAN Gene

Entrez Gene Summary for ACAN Gene

  • This gene is a member of the aggrecan/versican proteoglycan family. The encoded protein is an integral part of the extracellular matrix in cartilagenous tissue and it withstands compression in cartilage. Mutations in this gene may be involved in skeletal dysplasia and spinal degeneration. Multiple alternatively spliced transcript variants that encode different protein isoforms have been observed in this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for ACAN Gene

ACAN (Aggrecan) is a Protein Coding gene. Diseases associated with ACAN include Spondyloepimetaphyseal Dysplasia, Aggrecan Type and Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans. Among its related pathways are Integrin Pathway and Degradation of the extracellular matrix. Gene Ontology (GO) annotations related to this gene include calcium ion binding and extracellular matrix structural constituent. An important paralog of this gene is VCAN.

UniProtKB/Swiss-Prot Summary for ACAN Gene

  • This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.

Gene Wiki entry for ACAN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ACAN Gene

Genomics for ACAN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ACAN Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J088803 Promoter 1.4 EPDnew Ensembl CraniofacialAtlas 600.7 0.0 -35 1.6 KDM1A ZIC2 PATZ1 REST EZH2 ZBTB20 SP2 ZBTB26 ZNF777 ZNF335 ENSG00000259676 ACAN LOC105370960 lnc-ACAN-1 RF00017-1887 ISG20
GH15J088769 Promoter 0.6 CraniofacialAtlas 11.3 -33.9 -33866 0.4 KDM1A EZH2 POLR2A TAF1 lnc-HAPLN3-4 ACAN MIR7-2 AEN piR-49886 ISG20
GH15J088644 Enhancer 1.2 Ensembl ENCODE dbSUPER 5.1 -150.3 -150335 16.6 SP1 CTCF ZBTB33 KDM1A POLR2A BACH1 ZIC2 REST RAD21 TCF12 ISG20 AEN MIR7-2 ENSG00000173867 MRPL46 MRPS11 HAPLN3 ACAN POLG lnc-AEN-1
GH15J088835 Enhancer 0.4 Ensembl 11.6 +32.7 32664 0.6 CREB1 ZNF10 TOE1 ACAN AEN ENSG00000173867 MRPL46 MRPS11 ENSG00000259676 RF00017-1887 HAPLN3
GH15J088681 Enhancer 0.9 Ensembl ENCODE 4.5 -121.5 -121504 1.1 HNRNPL GATAD2A RBFOX2 SP1 TAF1 TCF7 RNF2 ZNF205 TFDP1 SAP130 MIR7-2 AEN ACAN piR-43107-103 piR-56541 ISG20
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ACAN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ACAN

Top Transcription factor binding sites by QIAGEN in the ACAN gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3

Genomic Locations for ACAN Gene

Genomic Locations for ACAN Gene
chr15:88,803,436-88,875,354
(GRCh38/hg38)
Size:
71,919 bases
Orientation:
Plus strand
chr15:89,346,674-89,418,585
(GRCh37/hg19)
Size:
71,912 bases
Orientation:
Plus strand

Genomic View for ACAN Gene

Genes around ACAN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACAN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACAN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACAN Gene

Proteins for ACAN Gene

  • Protein details for ACAN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16112-PGCA_HUMAN
    Recommended name:
    Aggrecan core protein
    Protein Accession:
    P16112
    Secondary Accessions:
    • B9EK55
    • E7ENV9
    • E7EX88
    • H0YM81
    • Q13650
    • Q9UCD3
    • Q9UCP4
    • Q9UCP5
    • Q9UDE0

    Protein attributes for ACAN Gene

    Size:
    2530 amino acids
    Molecular mass:
    261329 Da
    Quaternary structure:
    • Interacts with FBLN1 (By similarity). Interacts with COMP.

    Three dimensional structures from OCA and Proteopedia for ACAN Gene

    Alternative splice isoforms for ACAN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACAN Gene

Post-translational modifications for ACAN Gene

  • Contains mostly chondroitin sulfate, but also keratan sulfate chains, N-linked and O-linked oligosaccharides. The release of aggrecan fragments from articular cartilage into the synovial fluid at all stages of human osteoarthritis is the result of cleavage by aggrecanase.
  • Glycosylation at Asn126, Asn239, Asn333, Thr371, Thr376, Asn387, Asn434, Asn602, Asn658, Asn738, and Asn2013
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Antibody Products

No data available for DME Specific Peptides for ACAN Gene

Domains & Families for ACAN Gene

Gene Families for ACAN Gene

Protein Domains for ACAN Gene

InterPro:
Blocks:
  • Immunoglobulin V-set
  • Immunoglobulin subtype
  • Type I EGF
  • Sushi domain/SCR domain/CCP module
  • Link domain
  • Type II antifreeze protein signature
ProtoNet:

Suggested Antigen Peptide Sequences for ACAN Gene

GenScript: Design optimal peptide antigens:
  • ACAN protein (B9EK55_HUMAN)
  • Chondroitin sulfate proteoglycan core protein 1 (PGCA_HUMAN)
  • Aggrecan (Q6PID9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16112

UniProtKB/Swiss-Prot:

PGCA_HUMAN :
  • Two globular domains, G1 and G2, comprise the N-terminus of the proteoglycan, while another globular region, G3, makes up the C-terminus. G1 contains Link domains and thus consists of three disulfide-bonded loop structures designated as the A, B, B' motifs. G2 is similar to G1. The keratan sulfate (KS) and the chondroitin sulfate (CS) attachment domains lie between G2 and G3.
  • Belongs to the aggrecan/versican proteoglycan family.
Domain:
  • Two globular domains, G1 and G2, comprise the N-terminus of the proteoglycan, while another globular region, G3, makes up the C-terminus. G1 contains Link domains and thus consists of three disulfide-bonded loop structures designated as the A, B, B' motifs. G2 is similar to G1. The keratan sulfate (KS) and the chondroitin sulfate (CS) attachment domains lie between G2 and G3.
Family:
  • Belongs to the aggrecan/versican proteoglycan family.
genes like me logo Genes that share domains with ACAN: view

Function for ACAN Gene

Molecular function for ACAN Gene

UniProtKB/Swiss-Prot Function:
This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.

Phenotypes From GWAS Catalog for ACAN Gene

Gene Ontology (GO) - Molecular Function for ACAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005201 extracellular matrix structural constituent TAS 1569188
GO:0005509 calcium ion binding IEA --
GO:0005515 protein binding IPI 17588949
GO:0005540 hyaluronic acid binding IEA --
GO:0030021 extracellular matrix structural constituent conferring compression resistance RCA 20551380
genes like me logo Genes that share ontologies with ACAN: view
genes like me logo Genes that share phenotypes with ACAN: view

Human Phenotype Ontology for ACAN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ACAN Gene

miRTarBase miRNAs that target ACAN

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAN

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for ACAN Gene

Localization for ACAN Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACAN Gene

Secreted, extracellular space, extracellular matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACAN gene
Compartment Confidence
extracellular 5
lysosome 4
golgi apparatus 4
plasma membrane 3
cytoskeleton 3
nucleus 3
endoplasmic reticulum 3
mitochondrion 2
cytosol 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for ACAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005604 basement membrane IEA --
GO:0005796 Golgi lumen TAS --
GO:0031012 extracellular matrix IBA 21873635
GO:0043202 lysosomal lumen TAS --
genes like me logo Genes that share ontologies with ACAN: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACAN Gene

Pathways & Interactions for ACAN Gene

PathCards logo

SuperPathways for ACAN Gene

SuperPathway Contained pathways
1 Integrin Pathway
.67
.67
.56
.56
.50
.38
2 ERK Signaling
.61
.61
.58
.51
.49
3 Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
4 Keratan sulfate/keratin metabolism
5 Phospholipase-C Pathway
.56
.56
genes like me logo Genes that share pathways with ACAN: view

Pathways by source for ACAN Gene

2 BioSystems pathways for ACAN Gene
1 GeneGo (Thomson Reuters) pathway for ACAN Gene
  • Cell adhesion_Cell-matrix glycoconjugates
13 Qiagen pathways for ACAN Gene
  • ERK Signaling
  • FAK1 Signaling
  • GnRH Signaling
  • ILK Signaling
  • Inhibition of Angiogenesis by TSP1

SIGNOR curated interactions for ACAN Gene

Is activated by:

Gene Ontology (GO) - Biological Process for ACAN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001501 skeletal system development IBA,NAS 1569188
GO:0001502 cartilage condensation IEA --
GO:0002063 chondrocyte development IEA --
GO:0006508 proteolysis NAS 1569188
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with ACAN: view

Drugs & Compounds for ACAN Gene

(15) Drugs for ACAN Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Hyaluronic acid Approved, Vet_approved Pharma 717
Ilomastat Experimental Pharma Target 0

(20) Additional Compounds for ACAN Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ACAN: view

Transcripts for ACAN Gene

mRNA/cDNA for ACAN Gene

3 REFSEQ mRNAs :
12 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACAN

Alternative Splicing Database (ASD) splice patterns (SP) for ACAN Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b ^ 12 ^ 13 ^ 14a · 14b · 14c ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^
SP1: - - - - - -
SP2: - - -
SP3: -
SP4: - -
SP5: -
SP6:
SP7:

ExUns: 20 ^ 21a · 21b
SP1: -
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:

Relevant External Links for ACAN Gene

GeneLoc Exon Structure for
ACAN

Expression for ACAN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ACAN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACAN Gene

This gene is overexpressed in Artery - Tibial (x20.7), Artery - Aorta (x14.6), and Artery - Coronary (x4.5).

Protein differential expression in normal tissues from HIPED for ACAN Gene

This gene is overexpressed in Synovial fluid (25.3), Monocytes (19.9), and Bone marrow mesenchymal stem cell (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for ACAN Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ACAN

SOURCE GeneReport for Unigene cluster for ACAN Gene:

Hs.2159

mRNA Expression by UniProt/SwissProt for ACAN Gene:

P16112-PGCA_HUMAN
Tissue specificity: Restricted to cartilages.

Evidence on tissue expression from TISSUES for ACAN Gene

  • Blood(4.6)
  • Bone marrow(4.6)
  • Bone(3.7)
  • Nervous system(2.9)
  • Heart(2.8)
  • Skin(2.6)
  • Muscle(2.5)
  • Kidney(2.3)
  • Eye(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ACAN Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • ear
  • face
  • head
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • skull
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • rib
  • rib cage
  • scapula
  • sternum
Pelvis:
  • pelvis
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • vertebrae
genes like me logo Genes that share expression patterns with ACAN: view

Primer Products

No data available for Protein tissue co-expression partners for ACAN Gene

Orthologs for ACAN Gene

This gene was present in the common ancestor of chordates.

Orthologs for ACAN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ACAN 31
  • 99 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia ACAN 31
  • 78 (a)
OneToOne
Cow
(Bos Taurus)
Mammalia ACAN 31
  • 78 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Acan 31
  • 77 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia ACAN 31
  • 64 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia ACAN 31
  • 51 (a)
OneToOne
Chicken
(Gallus gallus)
Aves ACAN 31
  • 51 (a)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia ACAN 31
  • 45 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia acan 30
  • 59 (n)
Zebrafish
(Danio rerio)
Actinopterygii acanb 30 31
  • 60.63 (n)
OneToMany
acana 31
  • 36 (a)
OneToMany
Species where no ortholog for ACAN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rat (Rattus norvegicus)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)

Evolution for ACAN Gene

ENSEMBL:
Gene Tree for ACAN (if available)
TreeFam:
Gene Tree for ACAN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACAN: view image

Paralogs for ACAN Gene

Paralogs for ACAN Gene

(16) SIMAP similar genes for ACAN Gene using alignment to 8 proteins:

  • PGCA_HUMAN
  • B9EK55_HUMAN
  • E7ENV9_HUMAN
  • E7EX88_HUMAN
  • H0YK70_HUMAN
  • H0YM81_HUMAN
  • H0YMF1_HUMAN
  • Q6PID9_HUMAN
genes like me logo Genes that share paralogs with ACAN: view

Variants for ACAN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ACAN Gene

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
635418 Likely Pathogenic: Osteochondritis dissecans 88,836,198(+) A/T SPLICE_ACCEPTOR_VARIANT
707820 Benign: not provided 88,871,449(+) C/T SYNONYMOUS_VARIANT
707939 Benign: not provided 88,839,024(+) C/A SYNONYMOUS_VARIANT
710073 Benign: not provided 88,849,673(+) C/T SYNONYMOUS_VARIANT
710074 Benign: not provided 88,849,708(+) G/A MISSENSE_VARIANT

Additional dbSNP identifiers (rs#s) for ACAN Gene

Structural Variations from Database of Genomic Variants (DGV) for ACAN Gene

Variant ID Type Subtype PubMed ID
esv1164464 CNV deletion 17803354
esv1510077 CNV deletion 17803354
esv2394182 CNV deletion 18987734
esv2749995 CNV deletion 23290073
esv2749997 CNV deletion 23290073
esv28667 CNV loss 19812545
nsv1070295 CNV deletion 25765185
nsv1653 CNV deletion 18451855
nsv525114 CNV loss 19592680
nsv570385 CNV loss 21841781
nsv820918 CNV deletion 20802225

Variation tolerance for ACAN Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 26.89; 99.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACAN Gene

Human Gene Mutation Database (HGMD)
ACAN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACAN

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACAN Gene

Disorders for ACAN Gene

MalaCards: The human disease database

(55) MalaCards diseases for ACAN Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

UniProtKB/Swiss-Prot

PGCA_HUMAN
  • Spondyloepiphyseal dysplasia type Kimberley (SEDK) [MIM:608361]: Spondyloepiphyseal dysplasias are a heterogeneous group of congenital chondrodysplasias that specifically affect epiphyses and vertebrae. The autosomal dominant SEDK is associated with premature degenerative arthropathy. {ECO:0000269 PubMed:16080123}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG) [MIM:612813]: A bone disease characterized by severe short stature, macrocephaly, severe midface hypoplasia, short neck, barrel chest and brachydactyly. The radiological findings comprise long bones with generalized irregular epiphyses with widened metaphyses, especially at the knees, platyspondyly, and multiple cervical-vertebral clefts. {ECO:0000269 PubMed:19110214}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans (SSOAOD) [MIM:165800]: An autosomal dominant disease characterized by short stature, advanced bone maturation, early-onset osteoarthritis, and mild dysmorphic features consisting of midface hypoplasia, brachydactyly, broad great toes, and lumbar lordosis. Other features include intervertebral disk disease and osteochondritis dissecans. Osteochondritis dissecans is defined as a separation of cartilage and subchondral bone from the surrounding tissue. {ECO:0000269 PubMed:20137779}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for ACAN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ACAN: view

No data available for Genatlas for ACAN Gene

Publications for ACAN Gene

  1. Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms. (PMID: 1985970) Doege KJ … Yamada Y (The Journal of biological chemistry 1991) 2 3 4 23
  2. A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. (PMID: 16080123) Gleghorn L … Wallis G (American journal of human genetics 2005) 3 4 23
  3. The structure of aggrecan fragments in human synovial fluid. Evidence for the involvement in osteoarthritis of a novel proteinase which cleaves the Glu 373-Ala 374 bond of the interglobular domain. (PMID: 1569188) Sandy JD … Lohmander LS (The Journal of clinical investigation 1992) 3 4 23
  4. Identification, replication, and fine-mapping of Loci associated with adult height in individuals of african ancestry. (PMID: 21998595) N'Diaye A … Haiman CA (PLoS genetics 2011) 3 41
  5. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. (PMID: 20137779) Stattin EL … Aspberg A (American journal of human genetics 2010) 3 4

Products for ACAN Gene

Sources for ACAN Gene