ACAN (aggrecan)

Gene Gene information from NCBI Gene database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 176
Gene name Aggrecan
Gene symbol ACAN
Synonyms (NCBI Gene)
AGC1AGCANCSPG1CSPGCPMSK16SEDKSSOAOD
Chromosome 15
Chromosome location 15q26.1
Summary 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
SNPs SNP information provided by dbSNP.
30
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (30)
SNP ID Visualize variation Clinical significance Consequence
rs121913568 G>A Pathogenic Missense variant, coding sequence variant
rs150555123 G>A,C Conflicting-interpretations-of-pathogenicity Missense variant, coding sequence variant
rs267604368 G>A,T Likely-pathogenic Coding sequence variant, missense variant, stop gained
rs267606625 G>A Pathogenic Coding sequence variant, missense variant
rs368979713 G>A Conflicting-interpretations-of-pathogenicity Coding sequence variant, synonymous variant
miRNA miRNA information provided by mirtarbase database.
7
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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miRTarBase ID miRNA Experiments Reference
MIRT053690 hsa-miR-181a-5p Microarray 22942087
MIRT1921421 hsa-miR-4667-3p CLIP-seq
MIRT1921421 hsa-miR-4667-3p CLIP-seq
MIRT1921421 hsa-miR-4667-3p CLIP-seq
MIRT2165851 hsa-miR-4254 CLIP-seq
Transcription factors Transcription factors information provided by TRRUST V2 database.
4
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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Transcription factor Regulation Reference
SHOX Unknown 24421874
SHOX2 Unknown 24421874
SIRT1 Activation 21337390
SP1 Unknown 12081893
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
22
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0001501 Process Skeletal system development IBA
GO:0001501 Process Skeletal system development NAS 1569188
GO:0005201 Function Extracellular matrix structural constituent TAS 1569188
GO:0005515 Function Protein binding IPI 17588949, 32814053
GO:0005540 Function Hyaluronic acid binding IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
155760 319 ENSG00000157766
Protein Protein information from UniProt database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16112
Protein 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]
Protein 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.
PDB 4MD4 , 7RDV
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF07686 V-set 34 → 151 Immunoglobulin V-set domain Domain
PF00193 Xlink 153 → 247 Extracellular link domain Domain
PF00193 Xlink 254 → 349 Extracellular link domain Domain
PF00193 Xlink 478 → 572 Extracellular link domain Domain
PF00193 Xlink 579 → 674 Extracellular link domain Domain
PF00059 Lectin_C 2337 → 2442 Lectin C-type domain Domain
PF00084 Sushi 2447 → 2503 Sushi repeat (SCR repeat) Domain
Tissue specificity TISSUE SPECIFICITY: Detected in fibroblasts (at protein level) (PubMed:36213313). Restricted to cartilage (PubMed:7524681). {ECO:0000269|PubMed:36213313, ECO:0000269|PubMed:7524681}.
Sequence 
MTTLLWVFVTLRVITAAVTVETSDHDNSLSVSIPQPSPLRVLLGTSLTIPCYFIDPMHPV
TTAPSTAPLAPRIKWSRVSKEKEVVLLVATEGRVRVNSAYQDKVSLPNYPAIPSDATLEV
QSLRSNDSGVYRCEVMHGIEDSEATLEVVVKGIVFHYRAISTRYTLDFDRAQRACLQNSA
IIATPEQLQAAYEDGFHQCDAGWLADQTVRYPIHTPREGCYGDKDEFPGVRTYGIRDTNE
TYDVYCFAEEMEGEVFYATSPEKFTFQEAANECRRLGARLATTGQLYLAWQAGMDMCSAG
WLADRSVRYPISKARPNCGGNLLGVRTVYVHANQTGYPDPSSRYDAICYTGEDFVDIPEN
FFGVGGEEDITVQTVTWPDMELPLPRNITEGEARGSVILTVKPIFEVSPSPLEPEEPFTF
APEIGATAFAEVENETGEATRPWGFPTPGLGPATAFTSEDLVVQVTAVPGQPHLPGGVVF
HYRPGPTRYSLTFEEAQQACLRTGAVIASPEQLQAAYEAGYEQCDAGWLRDQTVRYPIVS
PRTPCVGDKDSSPGVRTYGVRPSTETYDVYCFVDRLEGEVFFATRLEQFTFQEALEFCES
HNATLATTGQLYAAWSRGLDKCYAGWLADGSLRYPIVTPRPACGGDKPGVRTVYLYPNQT
GLPDPLSRHHAFCFRGISAVPSPGEEEGGTPTSPSGVEEWIVTQVVPGVAAVPVEEETTA
VPSGETTAILEFTTEPENQTEWEPAYTPVGTSPLPGILPTWPPTGAATEESTEGPSATEV
PSASEEPSPSEVPFPSEEPSPSEEPFPSVRPFPSVELFPSEEPFPSKEPSPSEEPSASEE
PYTPSPPVPSWTELPSSGEESGAPDVSGDFTGSGDVSGHLDFSGQLSGDRASGLPSGDLD
SSGLTSTVGSGLPVESGLPSGDEERIEWPSTPTVGELPSGAEILEGSASGVGDLSGLPSG
EVLETSASGVGDLSGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVL
ETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETTAPGVEDISGLPSGEVLETT
APGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPG
VEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVED
ISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISG
LPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPS
GEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEVLETAAPGVEDISGLPSGEV
LETAAPGVEDISGLPSGEVLETTAPGVEEISGLPSGEVLETTAPGVDEISGLPSGEVLET
TAPGVEEISGLPSGEVLETSTSAVGDLSGLPSGGEVLEISVSGVEDISGLPSGEVVETSA
SGIEDVSELPSGEGLETSASGVEDLSRLPSGEEVLEISASGFGDLSGLPSGGEGLETSAS
EVGTDLSGLPSGREGLETSASGAEDLSGLPSGKEDLVGSASGDLDLGKLPSGTLGSGQAP
ETSGLPSGFSGEYSGVDLGSGPPSGLPDFSGLPSGFPTVSLVDSTLVEVVTASTASELEG
RGTIGISGAGEISGLPSSELDISGRASGLPSGTELSGQASGSPDVSGEIPGLFGVSGQPS
GFPDTSGETSGVTELSGLSSGQPGISGEASGVLYGTSQPFGITDLSGETSGVPDLSGQPS
GLPGFSGATSGVPDLVSGTTSGSGESSGITFVDTSLVEVAPTTFKEEEGLGSVELSGLPS
GEADLSGKSGMVDVSGQFSGTVDSSGFTSQTPEFSGLPSGIAEVSGESSRAEIGSSLPSG
AYYGSGTPSSFPTVSLVDRTLVESVTQAPTAQEAGEGPSGILELSGAHSGAPDMSGEHSG
FLDLSGLQSGLIEPSGEPPGTPYFSGDFASTTNVSGESSVAMGTSGEASGLPEVTLITSE
FVEGVTEPTISQELGQRPPVTHTPQLFESSGKVSTAGDISGATPVLPGSGVEVSSVPESS
SETSAYPEAGFGASAAPEASREDSGSPDLSETTSAFHEANLERSSGLGVSGSTLTFQEGE
ASAAPEVSGESTTTSDVGTEAPGLPSATPTASGDRTEISGDLSGHTSQLGVVISTSIPES
EWTQQTQRPAETHLEIESSSLLYSGEETHTVETATSPTDASIPASPEWKRESESTAAAPA
RSCAEEPCGAGTCKETEGHVICLCPPGYTGEHCNIDQEVCEEGWNKYQGHCYRHFPDRET
WVDAERRCREQQSHLSSIVTPEEQEFVNNNAQDYQWIGLNDRTIEGDFRWSDGHPMQFEN
WRPNQPDNFFAAGEDCVVMIWHEKGEWNDVPCNYHLPFTCKKGTVACGEPPVVEHARTFG
QKKDRYEINSLVRYQCTEGFVQRHMPTIRCQPSGHWEEPQITCTDPTTYKRRLQKRSSRH
PRRSRPSTAH
Sequence length 2530
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  Reactome
    Degradation of the extracellular matrix
Keratan sulfate biosynthesis
Keratan sulfate degradation
ECM proteoglycans
Defective CHST6 causes MCDC1
Defective ST3GAL3 causes MCT12 and EIEE15
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
381
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (10)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ACAN-related disorder Likely pathogenic; Pathogenic rs1489993778, rs2505242245, rs2505383706, rs2505251299, rs1555457525 RCV004548352
RCV005406655
RCV004548980
RCV004548817
RCV006268825
Osteochondritis dissecans Likely pathogenic; Pathogenic rs2141567062, rs375322679, rs2141585993, rs2141611557, rs2141587294, rs1596128699, rs1596144242, rs1896573269, rs2141608062, rs1897080948, rs1896771746, rs1896882552, rs1896883106 RCV001526470
RCV002466685
RCV001563613
RCV001775500
RCV001806409
RCV000786867
RCV000989372
RCV001253367
RCV001376127
RCV001292595
RCV001293733
RCV001293676
RCV001293673
See cases Likely pathogenic rs1896876299 RCV003128528
Short stature Likely pathogenic rs2141613985 RCV002222274
Show/Hide Unknown Diseases (18)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Adrenocortical carcinoma, hereditary Uncertain significance rs894526104 RCV005924353
Cholangiocarcinoma Benign rs2280465, rs7163146 RCV005916070
RCV005919522
Clear cell carcinoma of kidney Benign rs116981974 RCV005906687
Colon adenocarcinoma Likely benign; Benign rs752598382, rs116981974 RCV005928353
RCV005906684
Show/Hide Text Mining Associations (116)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Achondrogenesis type 2 Associate 36939200
Acrophobia Associate 34605228
Acute Aortic Syndrome Stimulate 33990642
Adenocarcinoma Associate 26867769
Adenoma Pleomorphic Associate 11290564
Alzheimer Disease Associate 36982604
Aortic Diseases Associate 29867203
Aortic Dissection Associate 33990642
Aortic Stenosis Supravalvular Associate 38293922
Arm Injuries Associate 32575104