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ASPN Gene

protein-coding   GIFtS: 56
GCID: GC09M095218

Asporin

(Previous name: asporin (LRR class 1))
  See ASPN-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
asporin1 2     SLRR1C2 3
PLAP12 3 5     OS32 5
Asporin (LRR Class 1)1 2     Periodontal Ligament Associated Protein 12
Asporin Proteoglycan1 2     Small Leucine-Rich Protein 1C2
PLAP-12 3     Periodontal Ligament-Associated Protein 13

External Ids:    HGNC: 148721   Entrez Gene: 548292   Ensembl: ENSG000001068197   OMIM: 6081355   UniProtKB: Q9BXN13   

Export aliases for ASPN gene to outside databases

Previous GC identifers: GC09M086045 GC09M086946 GC09M088517 GC09M090559 GC09M092298 GC09M094258 GC09M064895


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ASPN Gene:
This gene encodes a cartilage extracellular protein that is member of the small leucine-rich proteoglycan family.
The encoded protein may regulate chondrogenesis by inhibiting transforming growth factor-beta 1-induced gene
expression in cartilage. This protein also binds collagen and calcium and may induce collagen mineralization.
Polymorphisms in the aspartic acid repeat region of this gene are associated with a susceptibility to
osteoarthritis. Alternate splicing results in multiple transcript variants.(provided by RefSeq, Jul 2010)

GeneCards Summary for ASPN Gene:
ASPN (asporin) is a protein-coding gene. Diseases associated with ASPN include degenerative disc disease, and osteoarthritis. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is PODN.

UniProtKB/Swiss-Prot: ASPN_HUMAN, Q9BXN1
Function: Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the
PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced
cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in
inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in
articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis.
Negatively regulates chondrogenesis in the articular cartilage by blocking the TGF-beta/receptor interaction on
the cell surface and inhibiting the canonical TGF-beta/Smad signal. Binds calcium and plays a role in
osteoblast-driven collagen biomineralization activity

Gene Wiki entry for ASPN (Asporin) Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASPN gene promoter:
         SRF   USF1   AML1a   SRF (504 AA)   POU3F2 (N-Oct-5a)   POU3F2   Cdc5   RORalpha2   USF-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidASPN promoter sequence
   Search Chromatin IP Primers for ASPN

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASPN


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

Entrez Gene cytogenetic band: 9q22   Ensembl cytogenetic band:  9q22.31   HGNC cytogenetic band: 9q22.31

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M095218:  view genomic region     (about GC identifiers)

Start:
95,218,487 bp from pter      End:
95,244,844 bp from pter
Size:
26,358 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ASPN_HUMAN, Q9BXN1 (See protein sequence)
Recommended Name: Asporin precursor  
Size: 380 amino acids; 43417 Da
Subunit: Interacts with TGFB1, TGFB2 and TGFB3. DCN, BGN, and FMOD inhibit binding to TGFB1. Interacts with BMP2.
Interacts in vitro with type II collagen (By similarity). Interacts with type I collagen. DCN can inhibit
collagen binding
Sequence caution: Sequence=BAA90967.1; Type=Erroneous initiation;
Secondary accessions: Q5TBF3 Q96K79 Q96LD0 Q9NXP3

Explore the universe of human proteins at neXtProt for ASPN: NX_Q9BXN1

Explore proteomics data for ASPN at MOPED

Post-translational modifications: 

  • There is no serine/glycine dipeptide sequence expected for the attachment of O-linked glycosaminoglycans and this
    is probably not a proteoglycan. The O-linked polysaccharide on 54-Ser is probably the mucin type linked to GalNAc1
  • The N-linked glycan at Asn-282 is composed of variable structures of GlcNAc, mannose, fucose, HexNAc and hexose1
  • Glycosylation2 at Ser55, Asn282
  • Modification sites at PhosphoSitePlus

  • See ASPN Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001180264.1  NP_060150.4  

    ENSEMBL proteins: 
     ENSP00000364694   ENSP00000364693   ENSP00000378909   ENSP00000389902  
    Reactome Protein details: Q9BXN1

    ASPN Human Recombinant Protein Products:

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    Novus Biologicals ASPN Protein
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    Cloud-Clone Corp. Proteins for ASPN

     
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    antibodies-online proteins for ASPN (2 products) 

     
    antibodies-online peptides for ASPN

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    antibodies-online antibodies for ASPN (24 products) 

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    antibodies-online kits for ASPN (28 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    SLRR: Proteoglycans / Extracellular Matrix : Small leucine-rich repeats

    4 InterPro protein domains:
     IPR001611 Leu-rich_rpt
     IPR028548 Asporin
     IPR000372 LRR-contain_N
     IPR016352 SLRP_I_decor/aspor/byglycan

    Graphical View of Domain Structure for InterPro Entry Q9BXN1

    ProtoNet protein and cluster: Q9BXN1

    1 Blocks protein domain: IPB000372 Cysteine-rich flanking region

    UniProtKB/Swiss-Prot: ASPN_HUMAN, Q9BXN1
    Domain: The LRR 5 repeat can inhibit BMP2-induced cytodifferentiation and may be involved in the interaction with
    BMP2 (By similarity). The repeats LRR 10, LRR 11 and LRR 12 are involved in binding type I collagen. The poly-Asp
    region is involved in binding calcium
    Similarity: Belongs to the small leucine-rich proteoglycan (SLRP) family. SLRP class I subfamily
    Similarity: Contains 11 LRR (leucine-rich) repeats
    Similarity: Contains 1 LRRNT domain


    Find genes that share domains with ASPN           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ASPN_HUMAN, Q9BXN1
    Function: Negatively regulates periodontal ligament (PDL) differentiation and mineralization to ensure that the
    PDL is not ossified and to maintain homeostasis of the tooth-supporting system. Inhibits BMP2-induced
    cytodifferentiation of PDL cells by preventing its binding to BMPR1B/BMP type-1B receptor, resulting in
    inhibition of BMP-dependent activation of SMAD proteins (By similarity). Critical regulator of TGF-beta in
    articular cartilage and plays an essential role in cartilage homeostasis and osteoarthritis (OA) pathogenesis.
    Negatively regulates chondrogenesis in the articular cartilage by blocking the TGF-beta/receptor interaction on
    the cell surface and inhibiting the canonical TGF-beta/Smad signal. Binds calcium and plays a role in
    osteoblast-driven collagen biomineralization activity
    Induction: By TGFB1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IDA19589127
    GO:0005515protein binding ----
    GO:0005518collagen binding IEA--
         
    Find genes that share ontologies with ASPN           About GenesLikeMe


    Phenotypes:
         1 MGI phenotypic allele for Aspn (no phenotypes)

    Find genes that share phenotypes with ASPN           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Aspntm1Lex for ASPN

       genOway: Develop your customized and physiologically relevant rodent model for ASPN

    miRNA
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    miRTarBase miRNAs that target ASPN:
    hsa-mir-26b-5p (MIRT030089), hsa-mir-124-3p (MIRT023007), hsa-mir-335-5p (MIRT018748)

    Block miRNA regulation of human, mouse, rat ASPN using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate ASPN:
    hsa-miR-590-5p hsa-miR-374b hsa-miR-101 hsa-miR-26a hsa-miR-374a hsa-miR-26b hsa-miR-21 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidASPN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ASPN

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    Sino Biological Human cDNA Clone for ASPN
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPN

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPN


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    ASPN_HUMAN, Q9BXN1: Secreted, extracellular space, extracellular matrix
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    nucleus2
    cytoskeleton1
    endoplasmic reticulum1
    golgi apparatus1
    lysosome1
    mitochondrion1
    plasma membrane1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005578proteinaceous extracellular matrix IDA17827158
    GO:0031012colocalizes with extracellular matrix IDA--

    Find genes that share ontologies with ASPN           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for ASPN About    
    See pathways by source

    SuperPathContained pathways About
    1Degradation of the extracellular matrix
    Extracellular matrix organization0.34
    2ECM proteoglycans
    ECM proteoglycans


    Find genes that share SuperPaths with ASPN           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ASPN
        ECM proteoglycans


        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ASPN
    Interactions:

        GeneGlobe Interaction Network for ASPN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for ASPN (ENSP000003646944) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENAMENSP000003793834STRING: ENSP00000379383
    PDGFRLENSP000002516304STRING: ENSP00000251630
    AMELXENSP000003700884STRING: ENSP00000370088
    AMELYENSP000002154794STRING: ENSP00000215479
    CAB39ENSP000002584184STRING: ENSP00000258418
    About this table

    Gene Ontology (GO): 3 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030282bone mineralization IDA19589127
    GO:0030512negative regulation of transforming growth factor beta receptor signaling pathway IDA17827158
    GO:0070171negative regulation of tooth mineralization ISS--

    Find genes that share ontologies with ASPN           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ASPN

    1 Novoseek inferred chemical compound relationship for ASPN gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aspartate 66.6 18 15640800 (2), 11152692 (2), 17517696 (1), 16951482 (1) (see all 12)



    Find genes that share compounds with ASPN           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ASPN gene (2 alternative transcripts): 
    NM_001193335.1  NM_017680.4  

    Unigene Cluster for ASPN:

    Asporin
    Hs.435655  [show with all ESTs]
    Unigene Representative Sequence: NM_017680
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000375544(uc004ase.2) ENST00000375543(uc010mqy.2) ENST00000395538
    ENST00000450139
    miRNA
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    Block miRNA regulation of human, mouse, rat ASPN using miScript Target Protectors
    8 qRT-PCR Assays for microRNAs that regulate ASPN:
    hsa-miR-590-5p hsa-miR-374b hsa-miR-101 hsa-miR-26a hsa-miR-374a hsa-miR-26b hsa-miR-21 hsa-miR-1297
    SwitchGear 3'UTR luciferase reporter plasmidASPN 3' UTR sequence
    Inhib. RNA
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      QuantiTect SYBR Green Assays in human, mouse, rat ASPN
      QuantiFast Probe-based Assays in human, mouse, rat ASPN

    Additional mRNA sequence: 

    AF316824.1 AK000136.1 AK027359.1 AK172737.1 AK304501.1 AK308107.1 AY029191.1 AY358329.1 
    BC022059.1 BC063114.1 

    10 DOTS entries:

    DT.445995  DT.100673060  DT.121154150  DT.121154324  DT.100780514  DT.207676  DT.99945420  DT.121154226 
    DT.121154282  DT.121154155 

    Selected AceView cDNA sequences (see all 120):

    BF109778 AI089278 BP373559 BQ574173 AA127836 AL135737 AI493987 BP341814 
    AA329927 AI657039 AI240315 CA438673 AI862037 NM_017680 AA653554 AI493154 
    AW450923 AA631896 AA328211 AA482447 AW961537 BP381920 BC022059 BM711219 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ASPN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AAAATTGTTA
    ASPN Expression
    About this image


    ASPN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 13) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Intervertebral Disc Annulus Fibrosus Cells Annulus Fibrosus
     
     Placenta (Extraembryonic Tissues)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     Mesenchymal Stem Cells (Uncategorized)    fully expand to see all 2 entries
             Placenta-derived mesenchymal stem cells (family)
     
     NULL (Uncategorized)
             Adipose-derived stromal vascular fraction and adipocytes (HiQCell)
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
    ASPN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASPN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.435655

    UniProtKB/Swiss-Prot: ASPN_HUMAN, Q9BXN1
    Tissue specificity: Higher levels in osteoarthritic articular cartilage, aorta, uterus. Moderate expression in
    small intestine, heart, liver, bladder, ovary, stomach, and in the adrenal, thyroid, and mammary glands. Low
    expression in trachea, bone marrow, and lung. Colocalizes with TGFB1 in chondrocytes within osteoarthritic (OA)
    lesions of articular cartilage

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPN

    (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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ASPN gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aspn1 , 5 asporin1, 5 89.61(n)1
    91.67(a)1
      13 (25.31 cM)5
    666951  NM_025711.31  NP_079987.21 
     495444435 
    chicken
    (Gallus gallus)
    Aves ASPN1 asporin 75.43(n)
    77.78(a)
      415954  XM_414298.4  XP_414298.2 
    lizard
    (Anolis carolinensis)
    Reptilia ASPN6
    asporin
    78(a)
    1 ↔ 1
    2(156164035-156184692)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aspn1 asporin 73.03(n)
    74.73(a)
      100487197  XM_002934226.2  XP_002934272.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aspn1 asporin (LRR class 1) 60.31(n)
    56.68(a)
      65228  NM_131713.2  NP_571788.2 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASPN gene
    PODN2  FLRT12  PODNL12  FMOD2  KERA2  PRELP2  FLRT32  OMD2  
    BGN2  DCN2  FLRT22  ECM22  LOC1005090912  LUM2  
    7 SIMAP similar genes for ASPN using alignment to 6 protein entries:     ASPN_HUMAN (see all proteins):
    BGN    MST161    DCN    SLIT2    LRTM2    LUM
    ECM2

    Find genes that share paralogs with ASPN           About GenesLikeMe


    1 Pseudogenes.org Pseudogene for ASPN
    PGOHUM00000243753


    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    ASPN_HUMAN, Q9BXN1: The poly-Asp region of ASPN is polymorphic and ranges at least from 11 to 17 Asp


    Selected SNPs for ASPN (see all 484)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs727544061,2
    --64899778(+) TGGTTC/TTTTTT 2 -- int10--------
    rs716529681,2
    C--64920615(+) CCAAC-/GATGCA 2 -- int10--------
    rs105581021,2
    C--95223396(+) TCTTA-/ATTA  
            
    TTTAT
    2 -- int10--------
    rs1458418031,2
    --95236052(+) TAGGCA/CAGGCT 2 -- ds50010--------
    rs1387595681,2
    C--95236261(+) GGAGGC/TGGAGG 2 -- ds50010--------
    rs744011081,2
    C,F--95236389(+) GTTATA/GTATAG 2 -- ds50011Minor allele frequency- G:0.02WA 118
    rs175197191,2
    C,F,H--95236576(+) CTTTCG/AGTTTC 2 -- ut31 ese314Minor allele frequency- A:0.04NA EA NS 1564
    rs1874582841,2
    --95236686(+) TTGTTA/TGTGTC 2 -- ut310--------
    rs80671,2
    C,F,A,H--95236806(-) TGATCC/AGCTAT 2 -- ut31 ese330Minor allele frequency- A:0.46MN NA NS EA WA CSA 3106
    rs1431877781,2
    C--95236821(+) AATGCA/GAGTTA 2 -- ut310--------

    HapMap Linkage Disequilibrium report for ASPN (95218487 - 95244844 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 1 variation for ASPN:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv893573CNV Gain21882294

    Human Gene Mutation Database (HGMD): ASPN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASPN
    DNA2.0 Custom Variant and Variant Library Synthesis for ASPN

    (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

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    OMIM gene information: 608135   
    OMIM disorders: 607850  603932  
    UniProtKB/Swiss-Prot: ASPN_HUMAN, Q9BXN1
  • Osteoarthritis 3 (OS3) [MIM:607850]: A degenerative disease of the joints characterized by degradation of
    the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis. Clinical symptoms include
    pain and joint stiffness often leading to significant disability and joint replacement. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to
    osteoarthritis is conferred by a triplet repeat expansion polymorphism. ASPN allele having 14 aspartic acid
    repeats in the N-terminal region of the protein (D14), is overrepresented relative to the common allele having 13
    aspartic acid repeats (D13). The frequency of the D14 allele increases with disease severity. The D14 allele is
    also overrepresented in individuals with hip osteoarthritis
  • Intervertebral disc disease (IDD) [MIM:603932]: A common musculo-skeletal disorder caused by degeneration
    of intervertebral disks of the lumbar spine. It results in low-back pain and unilateral leg pain. Note=Disease
    susceptibility is associated with variations affecting the gene represented in this entry. Susceptibility to
    intervertebral disk disease, particularly lumbar disk degeneration, is conferred by a triplet repeat expansion
    polymorphism. ASPN allele having 14 aspartic acid repeats in the N-terminal region of the protein (D14), is
    associated with the disorder in some populations (PubMed:18304494)

  • 4 diseases for ASPN:    
    About MalaCards
    degenerative disc disease    osteoarthritis    macular holes    keloids

    1 disease from the University of Copenhagen DISEASES database for ASPN:
    Osteoarthritis

    Find genes that share disorders with ASPN           About GenesLikeMe

    4 Novoseek inferred disease relationships for ASPN gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    osteoarthritis 75.3 28 15640800 (3), 18434216 (2), 19997821 (2), 16416834 (1) (see all 15)
    osteoarthritis knee 70.5 2 15640800 (1), 16377215 (1)
    osteoarthritis hip 64.6 2 16377215 (1)
    rheumatoid arthritis 13.6 3 16707531 (2), 18336287 (1)

    Genetic Association Database (GAD): ASPN
    Human Genome Epidemiology (HuGE) Navigator: ASPN (16 documents)

    Export disorders for ASPN 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

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    PubMed articles for ASPN gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with ASPN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association of the asporin D14 allele with lumbar-disc degeneration in Asians. (PubMed id 18304494)1, 2, 4, 9 Song Y.Q.... Chan D. (Am. J. Hum. Genet. 2008)
    2. Mechanisms for asporin function and regulation in articular cartilage. (PubMed id 17827158)1, 2, 9 Nakajima M.... Ikegawa S. (J. Biol. Chem. 2007)
    3. An aspartic acid repeat polymorphism in asporin inhibits chondrogenesis and increases susceptibility to osteoarthritis. (PubMed id 15640800)1, 2, 9 Kizawa H.... Ikegawa S. (Nat. Genet. 2005)
    4. Absence of association of asporin polymorphisms and osteoarthritis susceptibility in US Caucasians. (PubMed id 18434216)1, 4, 9 Atif U....Chiano M. (Osteoarthr. Cartil. 2008)
    5. Expression pattern and gene characterization of asporin. A newly discovered member of the leucine-rich repeat protein family. (PubMed id 11152695)1, 2, 9 Henry S.P.... Mayne R. (J. Biol. Chem. 2001)
    6. Identification and characterization of asporin. A novel member of the leucine-rich repeat protein family closely related to decorin and biglycan. (PubMed id 11152692)1, 2, 9 Lorenzo P....Heinegaard D. (J. Biol. Chem. 2001)
    7. Expression profile of active genes in human periodontal ligament and isolation of PLAP-1, a novel SLRP family gene. (PubMed id 11587855)1, 2, 9 Yamada S.... Okada H. (Gene 2001)
    8. Association of an asporin repeat polymorphism with ankylosing spondylitis in Han Chinese population: a case-control study. (PubMed id 20144272)1, 4, 9 Liu D....Zhang Y. (Clin Invest Med 2010)
    9. Asporin repeat polymorphism in rheumatoid arthritis. (PubMed id 16707531)1, 4, 9 Torres B....GonzA!lez-Escribano M.F. (Ann. Rheum. Dis. 2007)
    10. Lack of association of a variable number of aspartic acid residues in the asporin gene with osteoarthritis susceptibility: case-control studies in Spanish Caucasians. (PubMed id 16542493)1, 4, 9 Rodriguez-Lopez J....Gonzalez A. (amp 2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    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

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    Entrez Gene: 54829 HGNC: 14872 AceView: ASPN Ensembl:ENSG00000106819 euGenes: HUgn54829
    ECgene: ASPN H-InvDB: ASPN

    (According to HUGE)
    About This Section

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      --

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

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    NameDescription
    PharmGKB entry for ASPN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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

    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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