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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ASPN Gene

protein-coding   GIFtS: 55
GCID: GC09M095218

Asporin

(Previous name: asporin (LRR class 1))
  See 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)
About This Section

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

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 periodontitis, and developmental dysplasia of hip, and among its related super-pathways are Collagen formation and ECM-receptor interaction. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_008470.19  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ASPN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: Secreted, extracellular space, extracellular matrix
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:

  • UniProtKB: 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 GalNAc
  • UniProtKB: The N-linked glycan at Asn-282 is composed of variable structures of GlcNAc, mannose, fucose, HexNAc and hexose
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9BXN1

  • ASPN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

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

    ENSEMBL proteins: 
     ENSP00000364694   ENSP00000364693   ENSP00000378909   ENSP00000389902  
    Reactome Protein details: Q9BXN1
    Human Recombinant Protein Products for ASPN: 
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    Novus Biologicals ASPN Proteins
    Novus Biologicals ASPN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ASPN 

    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    ASPN for ontologies           About GeneDecksing



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    LSBio Antibodies in human, mouse, rat for ASPN 

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    Cloud-Clone Corp. CLIAs for ASPN


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

    3 InterPro protein domains:
     IPR000372 LRR-contain_N
     IPR001611 Leu-rich_rpt
     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


    ASPN for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IDA19589127
    GO:0005515protein binding ----
         
    ASPN for ontologies           About GeneDecksing


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

    ASPN for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Aspntm1Lex for ASPN

       inGenious Targeting Laboratory - Custom generated mouse model solutions for ASPN 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ASPN

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASPN 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ASPN 

    miRNA
    Products:
        
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASPN
    8 QIAGEN miScript miRNA 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
    Products:
        
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASPN (NM_017680)
    Sino Biological Human cDNA Clone for ASPN
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASPN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPN
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                         Customized lentivirus expression plasmids for stable overexpression of ASPN 

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPN


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ASPN About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Collagen biosynthesis and modifying enzymes
    Extracellular matrix organization0.39
    2Non-integrin membrane-ECM interactions
    ECM proteoglycans0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    2        Reactome Pathways for ASPN
        ECM proteoglycans
    Extracellular matrix organization



    ASPN for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ASPN

    STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

    1 Interacting protein for ASPN (ENSP000003646944) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PDGFRLENSP000002516304STRING: ENSP00000251630
    About this table

    Gene Ontology (GO): 3 biological process terms (GO ID links to tree view):    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--

    ASPN for ontologies           About GeneDecksing



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

    ASPN for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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)

    Search CenterWatch for drugs/clinical trials and news about ASPN

    (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,
    Conferences by KenesGroup, 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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ASPN
    8 QIAGEN miScript miRNA 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
    Products:
         
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPN
    Clone
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    OriGene ORF clones in mouse, rat for ASPN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): ASPN (NM_017680)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASPN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPN
    Sirion Biotech Customized lentivirus for stable overexpression of ASPN 
                         Customized lentivirus expression plasmids for stable overexpression of ASPN 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASPN
      QIAGEN 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 

    24/120 AceView cDNA sequences (see all 120):

    BF109778 AW450923 AI657039 BP373559 AI089278 AA653554 NM_017680 AI493987 
    AI862037 AI493154 CA438673 AI240315 AA328211 AL135737 BQ574173 AA127836 
    BP341814 AA631896 AA329927 BF056951 D62655 AA482447 AI828398 BM992531 

    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™, 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

    ASPN expression in normal human tissues (normalized intensities)      ASPN embryonic expression: see
    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 
     5/13 selected tissues (see all 13) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 5 entries
             Intervertebral Disc Annulus Fibrosus Cells Thoracic Intervertebral Disc
     
     Blood Brain Barrier (Nervous System)
             Endothelial Cells Blood Brain Barrier
     
     Bone (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Limb (Muscoskeletal System)
             Mesenchymal Condensate Cells Zeugopod
     
     Testis (Reproductive System)
             Sertoli cells Seminiferous Tubules

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

    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. Co-localizes with TGFB1 in chondrocytes within osteoarthritic (OA)
    lesions of articular cartilage

        SABiosciences Custom PCR Arrays for ASPN
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    In Situ
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    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ASPN gene from 4/10 species (see all 10)    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_001172481.11  NP_001165952.11 
     495444435 
    chicken
    (Gallus gallus)
    Aves ASPN1 asporin 75.43(n)
    77.78(a)
      415954  XM_414298.3  XP_414298.2 
    lizard
    (Anolis carolinensis)
    Reptilia ASPN6
    Uncharacterized protein
    78(a)
    1 ↔ 1
    2(156164035-156184692)
    zebrafish
    (Danio rerio)
    Actinopterygii aspn1 asporin (LRR class 1) 61.22(n)
    59(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)
    About This Section
    Paralogs for ASPN gene
    PODN2  FLRT12  PODNL12  FMOD2  KERA2  PRELP2  FLRT32  OMD2  
    BGN2  DCN2  FLRT22  ECM22  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

    ASPN for paralogs           About GeneDecksing


    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) 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

    UniProtKB/Swiss-Prot: ASPN_HUMAN, Q9BXN1
    Polymorphism: The poly-Asp region of ASPN is polymorphic and ranges at least from 11 to 17 Asp


    10/484 SNPs in ASPN are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    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)

  • 13 diseases for ASPN:    About MalaCards
    periodontitis    developmental dysplasia of hip    tietze's syndrome    hypochondrogenesis
    tietz syndrome    osteoarthritis    lumbar disc degeneration    back pain
    keloids    spondylitis    rheumatoid arthritis    arthritis
    thyroiditis

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

    ASPN for disorders           About GeneDecksing

    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

    PubMed articles for ASPN gene, integrated from 9 sources (see all 53):
    (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. (2008)
    2. Mechanisms for asporin function and regulation in articular cartilage. (PubMed id 17827158)1, 2, 9 Nakajima M.... Ikegawa S. (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. (2005)
    4. Absence of association of asporin polymorphisms and osteoarthritis susceptibility in US Caucasians. (PubMed id 18434216)1, 4, 9 Atif U....Chiano M. (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. (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. (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. (2001)
    8. Association of an asporin repeat polymorphism with an kylosing spondylitis in Han Chinese population: a case-control study. (PubMed id 20144272)1, 4, 9 Liu D....Zhang Y. (2010)
    9. Asporin repeat polymorphism in rheumatoid arthritis. (PubMed id 16707531)1, 4, 9 Torres B....Gonzalez-Escribano M.F. (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. (2006)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 54829 HGNC: 14872 AceView: ASPN Ensembl:ENSG00000106819 euGenes: HUgn54829
    ECgene: ASPN H-InvDB: ASPN

    (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
    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
    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



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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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