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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

ACAN Gene

protein-coding GIFtS: 62
GCID: GC15P089346

aggrecan

(Previous names: chondroitin sulfate proteoglycan 1, aggrecan 1 )
(Previous symbols: MSK16, CSPG1, AGC1)

Explore 46 diseases affiliated with
ACAN via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Aggrecan¹		Chondroitin Sulfate Proteoglycan Core Protein 1² ³
AGC1¹ ² ³ ⁵		SEDK² ⁵
CSPG1¹ ² ³ ⁵		Aggrecan 1¹
MSK16¹ ² ³ ⁵		AGCAN²
CSPGCP¹ ²		Aggrecan Core Protein²
Chondroitin Sulfate Proteoglycan 1¹ ³		Large Aggregating Proteoglycan²
Cartilage-Specific Proteoglycan Core Protein² ³		CSPCP³

External Ids:	HGNC: 319¹	Entrez Gene: 176²	Ensembl: ENSG00000157766⁷	OMIM: 155760⁵	UniProtKB: P16112³

Export aliases for ACAN gene to outside databases

Previous GC identifers: GC15P087148 GC15P065458

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for ACAN:

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)

UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112

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

Gene Wiki entry for ACAN (Aggrecan)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000015.9 NC_018926.1 NT_010274.17

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the ACAN gene promoter:
AP-2alpha isoform 3 AP-2alpha isoform 2 AP-2alpha
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: ACAN promoter sequence

Search SABiosciences Chromatin IP Primers for ACAN

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ACAN

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 15q26.1 Ensembl cytogenetic band: 15q26.1 HGNC cytogenetic band: 15q26.1

ACAN Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ACAN gene location

GeneLoc information about chromosome 15 GeneLoc Exon Structure

GeneLoc location for GC15P089346: view genomic region (about GC identifiers)

Start:	89,346,674 bp from pter	End:	89,418,585 bp from pter
Size:	71,912 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112 (See protein sequence)

Recommended Name: Aggrecan core protein precursor

Size: 2415 amino acids; 250193 Da

Subunit: Interacts with FBLN1 (By similarity). Interacts with COMP

Subcellular location: Secreted, extracellular space, extracellular matrix (By similarity)

Developmental stage: Expression was detected in chondrocytes throughout the developing skeleton

Secondary accessions: Q13650 Q9UCD3 Q9UCP4 Q9UCP5 Q9UDE0

Alternative splicing: 3 isoforms: P16112-1 P16112-2 P16112-3

Explore the universe of human proteins at neXtProt for ACAN: NX_P16112

Post-translational modifications:

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 aggrecanase¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P16112

ACAN Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001126.3 NP_037359.3

ENSEMBL proteins:

ENSP00000453003 ENSP00000453499 ENSP00000341615 ENSP00000453342 ENSP00000453581

ENSP00000452682 ENSP00000387356

Reactome Protein details: P16112
Human Recombinant Protein Products:

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	Novus Biologicals ACAN Proteins Novus Biologicals ACAN Lysate
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins
	Browse Proteins at Uscn

Gene Ontology (GO): 5/7 cellular component terms (GO ID links to tree view) (see all 7): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005578	proteinaceous extracellular matrix	IEA	--
GO:0005604	basement membrane	--	--
GO:0005796	Golgi lumen	TAS	--
GO:0031012	colocalizes with extracellular matrix	IDA	--

ACAN for ontologies About GeneDecksing

ACAN Antibody Products:

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	ThermoFisher Antibody for ACAN

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	Browse Kits and Assays available from EMD Millipore
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	R&D Systems ELISAs for ACAN (Aggrecan) (see all)
	GenScript Custom Assay Services for ACAN
	Browse Enzo Life Sciences for kits & assays
	Browse ELISAs and CLIAs at Uscn

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

ACAN for domains About GeneDecksing

5/13 InterPro domains/families (see all 13):

IPR007110 Ig-like_dom

IPR016187 C-type_lectin_fold

IPR003006 Ig/MHC_CS

IPR003599 Ig_sub

IPR000742 EG-like_dom

Graphical View of Domain Structure for InterPro Entry P16112

ProtoNet protein and cluster: P16112

5/6 Blocks protein families (see all 6):

IPB000436 Sushi domain/SCR domain/CCP module

IPB000538 Link domain

IPB002353 Type II antifreeze protein signature

IPB003599 Immunoglobulin subtype

IPB006210 Type I EGF

UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112

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

Similarity: Belongs to the aggrecan/versican proteoglycan family

Similarity: Contains 1 C-type lectin domain

Similarity: Contains 1 EGF-like domain

Similarity: Contains 1 Ig-like V-type (immunoglobulin-like) domain

Similarity: Contains 4 Link domains

Similarity: Contains 1 Sushi (CCP/SCR) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112

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

miRNA Products:		OriGene 3'-UTR Clone (see all 2): ACAN Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACAN
		8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate ACAN (see all 38):
		hsa-miR-607 hsa-miR-4254 hsa-miR-4328 hsa-miR-25 hsa-miR-124 hsa-miR-3613-3p hsa-miR-506 hsa-miR-92b

		SwitchGear 3'UTR luciferase reporter plasmid: ACAN 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ACAN (see all 7) OriGene shRNA RFP: ACAN OriGene siRNA: ACAN
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Gene Editing
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		GenScript: all cDNA clones in your preferred vector (see all 2): ACAN (NM_013227)
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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAN

Gene Ontology (GO): 5/6 molecular function terms (GO ID links to tree view) (see all 6): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005201	extracellular matrix structural constituent	TAS	1569188
GO:0005509	calcium ion binding	--	--
GO:0005515	protein binding	IPI	17588949
GO:0005540	hyaluronic acid binding	IEA	--
GO:0030246	carbohydrate binding	IEA	--

ACAN for ontologies About GeneDecksing

Animal Models:
14 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Acan):

behavior/neurological	craniofacial	digestive/alimentary	growth/size	hearing/vestibular/ear
homeostasis/metabolism	immune system	limbs/digits/tail	liver/biliary system	mortality/aging
nervous system	normal	respiratory system	skeleton

ACAN for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/9 super-pathways (see all 9) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

MPS IIIC - Sanfilippo syndrome C

8/14 pathways (see all 14)
MPS VI - Maroteaux-Lamy syndrome	1.00	MPS VII - Sly syndrome	1.00
MPS IIIC - Sanfilippo syndrome C	1.00	MPS IIIA - Sanfilippo syndrome A	1.00
MPS I - Hurler syndrome	1.00	MPS IIID - Sanfilippo syndrome D	1.00
Mucopolysaccharidoses	1.00	MPS IX - Natowicz syndrome	1.00

Extracellular KSPG translocates to the lysosome for degradation

	Extracellular KSPG translocates to the lysosome for degradation	1.00			Keratan sulfate is cleaved from its proteoglycan by an unknown galactosidase	1.00
	KSPG is secreted from the cell	1.00			Keratan sulfate degradation	0.58

Cell adhesion_Cell-matrix glycoconjugates

Cell adhesion_Cell-matrix glycoconjugates

1.00

Cell adhesion Cell-matrix glycoconjugates

0.97

Keratan sulfate biosynthesis

Keratan sulfate biosynthesis

1.00

Keratan sulfate/keratin metabolism

0.84

Disease

Disease

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for ACAN

	Cell adhesion Cell-matrix glycoconjugates
	Metalloproteases in connective tissue degradation

1 R&D Systems Pathway for ACAN

Articular Cartilage Extracellular Matrix

1 GeneGo (Thomson Reuters) Pathway for ACAN

Cell adhesion Cell-matrix glycoconjugates

1 BioSystems Pathway for ACAN

Endochondral Ossification

5/22 Reactome Pathways for ACAN (see all 22)

	MPS VI - Maroteaux-Lamy syndrome
	Metabolism
	Disease
	Keratan sulfate/keratin metabolism
	MPS IIIA - Sanfilippo syndrome A

ACAN for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for ACAN

1 Interacting protein for ACAN (P16112³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
TNR	Q92752³	I2D: score=2

About this table

Gene Ontology (GO): 5/27 biological process terms (GO ID links to tree view) (see all 27): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0001501	skeletal system development	NAS	1569188
GO:0001502	cartilage condensation	--	--
GO:0001503	ossification	--	--
GO:0002063	chondrocyte development	--	--
GO:0005975	carbohydrate metabolic process	TAS	--

ACAN for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

ACAN for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for ACAN

1 HMDB Compound for ACAN About this table

Compound	Synonyms	CAS #	PubMed Ids
Hyaluronic acid	hyaluronic acid	9004-61-9	--

1 DrugBank Compound for ACAN About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
GM6001	--	--	target	--	10592235

10/34 Novoseek chemical compound relationships for ACAN gene (see all 34) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
keratan sulfate	77.9	13	14613270 (1), 7556944 (1), 1569188 (1), 10399179 (1) (see all 9)
neurocan	72.1	6	11038354 (2), 15590670 (1), 8907541 (1), 7806222 (1) (see all 5)
glycosaminoglycan	69.9	17	16188468 (2), 18040638 (1), 19464053 (1), 9854027 (1) (see all 10)
alginate	69.8	9	15979007 (3), 11037878 (2), 18686480 (1), 15250049 (1) (see all 6)
chondroitin sulfate	68.1	25	1339285 (3), 16425147 (3), 8226878 (2), 9153261 (1) (see all 11)
safranin o	65.5	1	10857790 (1)
adamalysin	65.4	1	17430884 (1)
hyaluronic acid	63.4	17	8500595 (2), 8298252 (2), 12429048 (1), 10399179 (1) (see all 9)
dermatan sulfate	60.6	6	10399179 (2), 15679869 (1), 17532798 (1), 12844226 (1)
tgf beta1	59.5	2	18040638 (1), 15979007 (1)

Search CenterWatch for drugs/clinical trials and news about ACAN / PGCA

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for ACAN gene (2 alternative transcripts):

NM_001135.3 NM_013227.3

Unigene Cluster for ACAN:

Aggrecan

Hs.2159 [show with all ESTs]

Unigene Representative Sequence: NM_013227

8 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000558207(uc002bmx.3) ENST00000559004 ENST00000352105 ENST00000561243

ENST00000560601 ENST00000558704 ENST00000558604 ENST00000439576(uc010upo.1 uc010upp.1 uc002bna.2)

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ACAN
		8/38 QIAGEN miScript miRNA Assays for microRNAs that regulate ACAN (see all 38):
		hsa-miR-607 hsa-miR-4254 hsa-miR-4328 hsa-miR-25 hsa-miR-124 hsa-miR-3613-3p hsa-miR-506 hsa-miR-92b

		SwitchGear 3'UTR luciferase reporter plasmid: ACAN 3' UTR sequence

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ACAN

Additional cDNA sequence:

AK290723.1 BC036445.1 BC150624.1 J05062.1 L12234.1 M55172.1 U13192.1 X17406.1

X80278.1

11 DOTS entries:

DT.97847777 DT.99998115 DT.100817712 DT.99944820 DT.99953727 DT.99947875 DT.95157471 DT.75118357

DT.99950347 DT.95302403 DT.99950968

24/206 AceView cDNA sequences (see all 206):

CA447713 AU279561 AI340067 CN480007 BQ181402 BQ181926 L12234 CA445896

CA445816 BQ181248 BQ004619 AU279625 BQ182050 BF345576 CA448514 BQ183753

BQ446761 CA411752 BQ182258 AI270694 X80278 CN479731 AI312888 BQ004267

GeneLoc Exon Structure

5/7 Alternative Splicing Database (ASD) splice patterns (SP) for ACAN (see all 7) About this scheme

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:													-

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

ECgene alternative splicing isoforms for ACAN

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

ACAN expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCCACCATCC

About this image

ACAN expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

10/42 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 42)

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Bone

Autopod Epiphyseal End

Chondrocytes

Selective marker (cell-identifying gene)

Bone, Cartilage

Bone

Autopod Epiphyseal End

Prechondrocytes

Bone, Cartilage

Bone

Caudal Endochondral Bones

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone, Cartilage

Endochondral Facial Bones

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone, Cartilage

Rostral Endochondral Facial Bones

Prehypertrophic Chondrocytes

Bone, Cartilage

Bone, Cartilage

Stylopod Epiphyseal End

Chondrocytes

Bone, Cartilage

Bone

Stylopod Epiphyseal End

Prechondrocytes

Bone, Cartilage

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 10/20 LifeMap Cells (see all 20)

Name

Category

Articular chondrocyte-like cells (HyStem chondrogenic ...)

Cartilage

Osteoblast-like cells grown in a 3D culture system (Osteogenic different...)

Osteoblast-like cells grown in monolayer (Osteogenic different...)

Pelleted mesenchymal stem cells (Chondrogenic differe...)

Chondrocyte-like cells (Direct differentiati...)

Bone, Cartilage

Mesoderm-like cells (Direct differentiati...)

Mesoderm

Posterior foregut-like cells (A scalable, suspensi...)

HyStem+BMP4-induced SK11 cells (HyStem+BMP4 inductio...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced SK11 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

HyStem+TGF?3+GDF5-induced SM30 cells (HyStem+TGF?3+GDF5 in...)

Bone, Cartilage

See ACAN Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for ACAN

SOURCE GeneReport for Unigene cluster: Hs.2159

UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112

Tissue specificity: Restricted to cartilages

SABiosciences Expression via Pathway-Focused PCR Arrays including ACAN:

Terminal Differentiation Markers in human mouse rat

Stem Cells in human mouse rat

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In Situ
Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ACAN

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for ACAN gene from 3/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	ACAN¹	aggrecan	59.41(n) 52.3(a)		395798 XM_001232949.2 XP_001232950.2
lizard (Anolis carolinensis)	Reptilia	-- --	--	73(a) 46(a)	1 ↔ many 1 ↔ many	AAWZ02041099(3-4360) GL344124.1(1177-60006)
zebrafish (Danio rerio)	Actinopterygii	acana¹	aggrecan a	53.3(n) 50.71(a)		497505 XM_681090.5 XP_686182.5

ENSEMBL Gene Tree for ACAN (if available)
TreeFam Gene Tree for ACAN (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for ACAN gene

HAPLN1² HAPLN4² HAPLN3² BCAN² NCAN² VCAN² HAPLN2²

16 SIMAP similar genes for ACAN using alignment to 8 protein entries: PGCA_HUMAN (see all proteins):

NOTCH3 DKFZp761L191 NCAN BCAN VCAN F9

CRB1 REG1A CSPG3 variant protein HAPLN3 HAPLN2 HAPLN1

CLEC4D REG1B HAPLN4 HABP2

ACAN for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75468092^1,2	F,	--	65457383(+)	`GGCTTC/AGGTCA`	2	--	us2k¹		1		WA	118
rs12916058^1,2	C,	--	65457513(+)	`GAGAGG/ATGGGT`	2	--	us2k¹		2		NA	122
rs76002365^1,2		--	65457620(+)	`GTCCCG/ACCCCC`	2	--	us2k¹		2		NA EA	122
rs6496524^1,2	C,A,	--	65458478(+)	`TGTCCC/GGCCGC`	2	--	us2k¹		2		CSA WA	120
rs56088572^1,2	C,	--	65458523(+)	`TGAGGA/GTGCAG`	2	--	us2k¹		0	--	--	--	--
rs11635839^1,2	C,F,A,H,	--	65458663(+)	`CTCTCC/GCGCCC`	2	--	us2k¹ trp³		1		NA	120
rs11635542^1,2	C,F,H,	--	65458672(+)	`CCTGAG/ACGCAG`	2	--	us2k¹		1		NA	120
rs112026403^1,2		--	65459268(+)	`TGTCTC/ACTTCC`	2	--	int¹		1		CSA	2
rs113141437^1,2	C,	--	65460072(+)	`ACCCTG/AGGGCT`	2	--	int¹		2		WA	120
rs79005350^1,2	C,F,	--	65460293(+)	`TCTGGT/CTCTGT`	2	--	int¹		1		EA	120

HapMap Linkage Disequilibrium report for ACAN (89346674 - 89418585 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for ACAN
2 CNVs: 72349 43915
1 Indel: 25574
Human Gene Mutation Database (HGMD): ACAN

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ACAN

DNA2.0 Custom Variant and Variant Library Synthesis for ACAN

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

ACAN for disorders           About GeneDecksing

OMIM gene information: 155760
OMIM disorders: 608361  612813  165800
UniProtKB/Swiss-Prot: PGCA_HUMAN, P16112

Defects in ACAN are the cause of 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

Defects in ACAN are the cause of spondyloepimetaphyseal dysplasia aggrecan type (SEMD-ACAN) [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

Defects in ACAN are the cause of osteochondritis dissecans short stature and early-onset osteoarthritis (OD)

[MIM:165800]. It is a type of osteochondritis defined as a separation of cartilage and subchondral bone from the

surrounding tissue, primarily affecting the knee, ankle and elbow joints. It is clinically characterized by multiple

osteochondritic lesions in knees and/or hips and/or elbows, disproportionate short stature and early-onset

osteoarthritis

20/46 diseases for ACAN (see all 46): About MalaCards

spondyloepimetaphyseal dysplasia, aggrecan type spondyloepiphyseal dysplasia, kimberley type macrocephaly with multiple epiphyseal dysplasia and distinctive facies osteochondritis dissecans

multiple epiphyseal dysplasia epiphyseal dysplasia spondyloepiphyseal dysplasia spinal stenosis

short stature degenerative disc disease odontogenic myxoma achondroplasia

laryngeal squamous cell carcinoma ankylosing spondylitis semd exotropia

myxoma squamous cell carcinoma dwarfism spondylitis

7 diseases from the University of Copenhagen DISEASES database for ACAN:

Osteoarthritis Degenerative disc disease Chondrosarcoma Rheumatoid arthritis

Pseudoachondroplasia Arthropathy Osteochondritis dissecans

10/18 Novoseek disease relationships for ACAN gene (see all 18) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
osteoarthritis	77.8	23	8195777 (2), 16583443 (2), 16188468 (2), 7533495 (2) (see all 16)
psach	59.3	3	1670752 (3)
multiple epiphyseal dysplasia	55.6	1	12205105 (1)
arthritis	53.9	9	14613270 (3), 8941646 (3), 8603731 (1), 10438522 (1) (see all 5)
inflammatory joint disease	46.4	1	9485085 (1)
spondyloepiphyseal dysplasia	44.9	3	12205105 (1), 16080123 (1)
collagen fibril	35.7	2	8195777 (1), 8456642 (1)
chondrosarcoma	32.4	1	8226878 (1)
skeletal dysplasia	31.8	1	1670752 (1)
dwarfism	28.9	1	12975605 (1)

Human Genome Epidemiology (HuGE) Navigator: ACAN (20 documents)

Export disorders for ACAN gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for ACAN gene, integrated from 9 sources (see all 353):
(articles sorted by number of sources associating them with ACAN)

Utopia: connect your pdf to the dynamic
world of online information

Complete coding sequence and deduced primary structure of the human cartilage large aggregating proteoglycan, aggrecan. Human-specific repeats, and additional alternatively spliced forms. (PubMed id 1985970)^{1, 2, 3, 9} Doege K.J.... Yamada Y. (1991)
A mutation in the variable repeat region of the aggrecan gene (AGC1) causes a form of spondyloepiphyseal dysplasia associated with severe, premature osteoarthritis. (PubMed id 16080123)^{1, 2, 9} Gleghorn L.... Wallis G. (2005)
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. (PubMed id 1569188)^{1, 2, 9} Sandy J.D.... Lohmander L.S. (1992)
A missense mutation in the aggrecan C-type lectin dom ain disrupts extracellular matrix interactions and causes dominant familial ost eochondritis dissecans. (PubMed id 20137779)^{1, 2} Stattin E.L....Aspberg A. (2010)
A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan. (PubMed id 19110214)^{1, 2} Tompson S.W.... Krakow D. (2009)
Interaction of cartilage oligomeric matrix protein/thrombospondin 5 with aggrecan. (PubMed id 17588949)^{1, 2} Chen F.-H.... Lawler J. (2007)
Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry. (PubMed id 16335952)^{1, 2} Liu T.... Smith R.D. (2005)
Age-related changes in the content of the C-terminal region of aggrecan in human articular cartilage. (PubMed id 8611178)^{1, 2} Dudhia J....Bayliss M.T. (1996)
Catabolism of aggrecan by explant cultures of human articular cartilage in the presence of retinoic acid. (PubMed id 7574678)^{1, 2} Ilic M.Z....Handley C.J. (1995)
Analysis of aggrecan and tenascin gene expression in mouse skeletal tissues by northern and in situ hybridization using species specific cDNA probes. (PubMed id 7524681)^{1, 2} Glumoff V.... Vuorio E. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 176	HGNC: 319	AceView: AGC1	Ensembl:ENSG00000157766	euGenes: HUgn176
ECgene: ACAN	H-InvDB: ACAN

(According to HUGE)
About This Section

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for ACAN	Pharmacogenomics, SNPs, Pathways
Functional Glycomics Gateway - Glycan Binding	http://www.functionalglycomics.org/glycomics/GBPServlet?&operationType=view&cbpId=cbp_hum_Ctlect_351

Intellectual Property for ACAN gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for ACAN gene:
Search GeneIP for patents involving ACAN

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences),
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