• Gene id: 176

Gene Summary

• Gene Symbol: ACAN   Gene   UCSC   Ensembl
• Aliases: AGC1, AGCAN, CSPG1, CSPGCP, MSK16, SEDK, SSOAOD
• Gene name: aggrecan
• Alternate names: aggrecan core protein, cartilage-specific proteoglycan core protein, chondroitin sulfate proteoglycan core protein 1, large aggregating proteoglycan,
• Gene location: 15q26.1 (88803435: 88875353)     Exons: 19     NC_000015.10
• Gene summary(Entrez): 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
• OMIM: 155760

SNPs

rs397515541

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000005.10   g.13902053C>G
NC_000005.9   g.13902162C>G
NG_013081.2   g.47428G>C
NG_013081.1   g.47428G>C
NM_001369.2   c.1730G>C
XM_005248262.3   c.1838G>C
XM_005248262.1   c.1685G>C
XM_017009179.2   c.743G>C
XM_024454388.1   c.743G>C
XM_024454389.1   c.332G>C
XM_0170  

rs397515540

Strand:    Allele origin:   Allele change:   Mutation type: del

NC_000005.10   g.13753290del
NC_000005.9   g.13753399del
NG_013081.2   g.196191del
NG_013081.1   g.196191del
NM_001369.2   c.10815del
XM_005248262.3   c.10923del
XM_005248262.1   c.10770del
XM_017009179.2   c.9828del
XM_024454388.1   c.9828del
XM_024454389.1   c.9417del

rs140506267

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.894044A>G
NC_000009.11   g.894044A>G
NG_009221.1   g.57355A>G
NM_021951.3   c.671A>G
NM_021951.2   c.671A>G
NM_001363767.1   c.197A>G
XM_011517773.3   c.197A>G
XM_006716732.1   c.671A>G
XM_011517770.1   c.719A>G
XM_011517771.1   c.719A>G
XM_011517772.1  

rs34946058

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.894156C>G
NC_000009.12   g.894156C>T
NC_000009.11   g.894156C>G
NC_000009.11   g.894156C>T
NG_009221.1   g.57467C>G
NG_009221.1   g.57467C>T
NM_021951.3   c.783C>G
NM_021951.3   c.783C>T
NM_021951.2   c.783C>G
NM_021951.2   c.783C>T
NM_001363767.1   c.309

rs1918690

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000002.12   g.84679791T>A
NC_000002.12   g.84679791T>C
NC_000002.11   g.84906915T>A
NC_000002.11   g.84906915T>C
NG_050957.1   g.225252T>A
NG_050957.1   g.225252T>C|SEQ=[T/A/C]|GENE=DNAH6

rs144122237

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.841785C>T
NC_000009.11   g.841785C>T
NG_009221.1   g.5096C>T
NM_021951.3   c.-54C>T
NM_021951.2   c.-54C>T
XM_006716732.1   c.-54C>T
XM_017014375.1   c.-54C>T|SEQ=[C/T]|GENE=DMRT1

rs376518776

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.842051G>A
NC_000009.11   g.842051G>A
NG_009221.1   g.5362G>A
NM_021951.3   c.213G>A
NM_021951.2   c.213G>A
XM_006716732.1   c.213G>A
XM_017014375.1   c.213G>A|SEQ=[G/A]|GENE=DMRT1

rs200423545

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000009.12   g.967959T>A
NC_000009.12   g.967959T>C
NC_000009.11   g.967959T>A
NC_000009.11   g.967959T>C
NG_009221.1   g.131270T>A
NG_009221.1   g.131270T>C|SEQ=[T/A/C]|GENE=DMRT1

Protein Summary

• Protein general information: P16112  
  • Name: Aggrecan core protein (Cartilage specific proteoglycan core protein) (CSPCP) (Chondroitin sulfate proteoglycan core protein 1) (Chondroitin sulfate proteoglycan 1) [Cleaved into: Aggrecan core protein 2]
  • Length: 2530  
  • Mass: 261329
  • Tissue specificity: Restricted to cartilages. {ECO
• Sequence:

  MTTLLWVFVTLRVITAAVTVETSDHDNSLSVSIPQPSPLRVLLGTSLTIPCYFIDPMHPVTTAPSTAPLAPRIKW
  SRVSKEKEVVLLVATEGRVRVNSAYQDKVSLPNYPAIPSDATLEVQSLRSNDSGVYRCEVMHGIEDSEATLEVVV
  KGIVFHYRAISTRYTLDFDRAQRACLQNSAIIATPEQLQAAYEDGFHQCDAGWLADQTVRYPIHTPREGCYGDKD
  EFPGVRTYGIRDTNETYDVYCFAEEMEGEVFYATSPEKFTFQEAANECRRLGARLATTGQLYLAWQAGMDMCSAG
  WLADRSVRYPISKARPNCGGNLLGVRTVYVHANQTGYPDPSSRYDAICYTGEDFVDIPENFFGVGGEEDITVQTV
  TWPDMELPLPRNITEGEARGSVILTVKPIFEVSPSPLEPEEPFTFAPEIGATAFAEVENETGEATRPWGFPTPGL
  GPATAFTSEDLVVQVTAVPGQPHLPGGVVFHYRPGPTRYSLTFEEAQQACLRTGAVIASPEQLQAAYEAGYEQCD
  AGWLRDQTVRYPIVSPRTPCVGDKDSSPGVRTYGVRPSTETYDVYCFVDRLEGEVFFATRLEQFTFQEALEFCES
  HNATLATTGQLYAAWSRGLDKCYAGWLADGSLRYPIVTPRPACGGDKPGVRTVYLYPNQTGLPDPLSRHHAFCFR
  GISAVPSPGEEEGGTPTSPSGVEEWIVTQVVPGVAAVPVEEETTAVPSGETTAILEFTTEPENQTEWEPAYTPVG
  TSPLPGILPTWPPTGAATEESTEGPSATEVPSASEEPSPSEVPFPSEEPSPSEEPFPSVRPFPSVELFPSEEPFP
  SKEPSPSEEPSASEEPYTPSPPVPSWTELPSSGEESGAPDVSGDFTGSGDVSGHLDFSGQLSGDRASGLPSGDLD
  SSGLTSTVGSGLPVESGLPSGDEERIEWPSTPTVGELPSGAEILEGSASGVGDLSGLPSGEVLETSASGVGDLSG
  LPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDIS
  GLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDI
  SGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVED
  ISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVE
  DISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGV
  EDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETTAPGVEEISGLPSGEVLETTAPG
  VDEISGLPSGEVLETTAPGVEEISGLPSGEVLETSTSAVGDLSGLPSGGEVLEISVSGVEDISGLPSGEVVETSA
  SGIEDVSELPSGEGLETSASGVEDLSRLPSGEEVLEISASGFGDLSGLPSGGEGLETSASEVGTDLSGLPSGREG
  LETSASGAEDLSGLPSGKEDLVGSASGDLDLGKLPSGTLGSGQAPETSGLPSGFSGEYSGVDLGSGPPSGLPDFS
  GLPSGFPTVSLVDSTLVEVVTASTASELEGRGTIGISGAGEISGLPSSELDISGRASGLPSGTELSGQASGSPDV
  SGEIPGLFGVSGQPSGFPDTSGETSGVTELSGLSSGQPGISGEASGVLYGTSQPFGITDLSGETSGVPDLSGQPS
  GLPGFSGATSGVPDLVSGTTSGSGESSGITFVDTSLVEVAPTTFKEEEGLGSVELSGLPSGEADLSGKSGMVDVS
  GQFSGTVDSSGFTSQTPEFSGLPSGIAEVSGESSRAEIGSSLPSGAYYGSGTPSSFPTVSLVDRTLVESVTQAPT
  AQEAGEGPSGILELSGAHSGAPDMSGEHSGFLDLSGLQSGLIEPSGEPPGTPYFSGDFASTTNVSGESSVAMGTS
  GEASGLPEVTLITSEFVEGVTEPTISQELGQRPPVTHTPQLFESSGKVSTAGDISGATPVLPGSGVEVSSVPESS
  SETSAYPEAGFGASAAPEASREDSGSPDLSETTSAFHEANLERSSGLGVSGSTLTFQEGEASAAPEVSGESTTTS
  DVGTEAPGLPSATPTASGDRTEISGDLSGHTSQLGVVISTSIPESEWTQQTQRPAETHLEIESSSLLYSGEETHT
  VETATSPTDASIPASPEWKRESESTAAAPARSCAEEPCGAGTCKETEGHVICLCPPGYTGEHCNIDQEVCEEGWN
  KYQGHCYRHFPDRETWVDAERRCREQQSHLSSIVTPEEQEFVNNNAQDYQWIGLNDRTIEGDFRWSDGHPMQFEN
  WRPNQPDNFFAAGEDCVVMIWHEKGEWNDVPCNYHLPFTCKKGTVACGEPPVVEHARTFGQKKDRYEINSLVRYQ
  CTEGFVQRHMPTIRCQPSGHWEEPQITCTDPTTYKRRLQKRSSRHPRRSRPSTAH

• Structural information:
  • Protein Domains: (34..14-)
    (/note="Ig-like-V-type)
    (153..24-)
    (/note="Link-1)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00323-)
    (254..35-)
    (/note="Link-2)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00323-)
    (478..57-)
    (/note="Link-3)
    (/evidence-)
  • Interpro: IPR001304  IPR016186  IPR018378  IPR033987  IPR016187   IPR013032  IPR000742  IPR007110  IPR036179  IPR013783  IPR003006  IPR003599  IPR013106  IPR000538  IPR035976  IPR000436  
  • Prosite: PS00615 PS50041 PS00022 PS01186 PS50026 PS50835 PS00290 PS01241 PS50963 PS50923
  • CDD: cd00033 cd03588
  • PDB: 4MD4
  • PDBsum: 4MD4
  • STRING: ENSP00000387356
• Other Databases: GeneCards:  ACAN  Malacards:  ACAN

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001501	skeletal system development	IBA	biological process
GO:0007417	central nervous system development	IBA	biological process
GO:0031012	extracellular matrix	IBA	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005540	hyaluronic acid binding	IEA	molecular function
GO:0007155	cell adhesion	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0005576	extracellular region	IEA	cellular component
GO:0030246	carbohydrate binding	IEA	molecular function
GO:0030198	extracellular matrix organization	TAS	biological process
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0043202	lysosomal lumen	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005576	extracellular region	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0005796	Golgi lumen	TAS	cellular component
GO:0018146	keratan sulfate biosynthetic process	TAS	biological process
GO:0042340	keratan sulfate catabolic process	TAS	biological process
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0031012	extracellular matrix	IEA	cellular component
GO:0005604	basement membrane	IEA	cellular component
GO:0002063	chondrocyte development	IEA	biological process
GO:0098982	GABA-ergic synapse	IEA	cellular component
GO:0098966	perisynaptic extracellular matrix	IEA	cellular component
GO:0030199	collagen fibril organization	IEA	biological process
GO:0030166	proteoglycan biosynthetic process	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0001502	cartilage condensation	IEA	biological process
GO:0030021	extracellular matrix structural constituent conferring compression resistance	RCA	molecular function
GO:0030021	extracellular matrix structural constituent conferring compression resistance	RCA	molecular function
GO:0062023	collagen-containing extracellular matrix	HDA	colocalizes with
GO:0062023	collagen-containing extracellular matrix	HDA	cellular component
GO:0005201	extracellular matrix structural constituent	TAS	molecular function
GO:0001501	skeletal system development	NAS	biological process
GO:0006508	proteolysis	NAS	biological process

Diseases

Associated diseases	References
Spondyloepimetaphyseal dysplasia	KEGG:H02187
Familial osteochondritis dissecans	KEGG:H00448
Spondyloepiphyseal dysplasia, Kimberley type	KEGG:H00765
Spondyloepimetaphyseal dysplasia	KEGG:H02187
Familial osteochondritis dissecans	KEGG:H00448
Spondyloepiphyseal dysplasia	KEGG:H00765
Multiple sclerosis	PMID:11764092
Rheumatoid arthritis	PMID:16507130
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq