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

ASPN Gene

protein-coding   GIFtS: 51
GCID: GC09M095218

asporin

(Previous name: asporin (LRR class 1) )
 Explore 17 diseases affiliated with
ASPN via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for ASPN    

Aliases
for ASPN gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Asporin1     FLJ201291
PLAP11 2 3 5     Asporin Proteoglycan2
SLRR1C1 2 3     Periodontal Ligament Associated Protein 12
Asporin (LRR Class 1)1 2     Small Leucine-Rich Protein 1C2
PLAP-12 3     Periodontal Ligament-Associated Protein 13
OS32 5     

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


Summaries
for ASPN gene

(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:
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)

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)


Genomic Views
for ASPN 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  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 plasmid: ASPN 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

Proteins
for ASPN gene

(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: 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

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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_Q9BXN1

    • ASPN Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000364694   ENSP00000364693   ENSP00000378909   ENSP00000389902  

    Human Recombinant Protein Products: 
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    Novus Biologicals ASPN Proteins
    Novus Biologicals ASPN Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn 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



    ASPN Antibody Products: 
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    ThermoFisher Antibodies for ASPN

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    Uscn ELISAs and CLIAs for ASPN

    Protein Domains /
    Families
    for ASPN gene

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

    3 InterPro domains/families:
     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 family: 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


    Function
    for ASPN gene

    (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: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    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 plasmid: ASPN 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 ASPN (see all 7)
    OriGene shRNA RFP: ASPN
    OriGene siRNA: ASPN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPN

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASPN (see all 5)
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASPN (NM_017680)
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASPN 

    Cell Line
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    Search LifeMap BioReagents cell lines for ASPN

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

    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


    Animal Models:
         Mouse knock-out Aspntm1Lex for ASPN
         1 MGI phenotypic allele for Aspn (no phenotypes)

    ASPN for phenotypes           About GeneDecksing


    Pathways & Interactions
    for ASPN gene

    (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



    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



    Drugs & Compounds
    for ASPN gene

    (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

    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 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 

    Transcripts
    for ASPN gene

    (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 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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    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 plasmid: ASPN 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 ASPN (see all 7)
    OriGene shRNA RFP: ASPN
    OriGene siRNA: ASPN
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ASPN
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ASPN (see all 5)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ASPN (see all 2)
    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 
    Primer
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    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat ASPN
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ASPN
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ASPN

    Additional cDNA 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):

    AA127836 AI089278 AA653554 AA631896 AI493987 AW450923 BP373559 BQ574173 
    AA328211 AA329927 AI240315 NM_017680 CA438673 AI862037 AI493154 BF109778 
    AL135737 AI657039 BP341814 BP383223 AA135605 AK027359 BV202571 BX104662 

    GeneLoc Exon Structure


    Expression
    for ASPN gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAATTGTTA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    ASPN expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    8 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    CartilageCervical Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageLumbar Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageSacral Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    CartilageThoracic Intervertebral DiscIntervertebral Disc Annulus Fibrosus CellsCartilage
    BrainBlood Brain BarrierPostnatal Endothelial CellsBlood Brain Barrier, Endothelium
    LimbZeugopodMesenchymal Condensate CellsBone, Cartilage
    TestisSeminiferous TubulesSertoli cellsTestis
    CartilageLumbar Intervertebral DiscCartilage
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    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
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASPN

    Orthologs
    for ASPN gene

    (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 3/12 species (see all 12)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves ASPN1 asporin 75.43(n)
    77.78(a)    		   415954  XM_414298.3  XP_414298.2 
    lizard
    (Anolis carolinensis)    		 Reptilia ASPN6
    		 --
    		 78(a)
    		 1 ↔ 1
    		 2(156169746-156183452)
    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
    for ASPN gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ASPN gene
    OGN2  OPTC2  PODN2  PODNL12  FMOD2  PRELP2  KERA2  OMD2  
    BGN2  DCN2  EPYC2  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


    Genomic Variants
    for ASPN gene

    (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

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


    10/406 NCBI SNPs in ASPN are shown (see all 406)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 9 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs744011081,2
    		F,--64895854(+) GTTATA/GTATAG 2 -- ds50011Minor allele frequency- G:0.02WA 118
    rs175197191,2
    		C,F,H,--64896041(+) CTTTCG/AGTTTC 2 -- ut31 ese314Minor allele frequency- A:0.04NA EA NS 1564
    rs793463501,2
    		--64896466(+) AAAGAC/TGGGCT 2 -- ut311Minor allele frequency- T:0.01WA 118
    rs175917761,2
    		C,F,H,--64896761(+) AGCATG/CAGATT 2 -- ut31 ese39Minor allele frequency- C:0.02NA NS EA 802
    rs70438091,2
    		H--64897060(+) ACACAA/TCGAAA 3 R ut31 syn14Minor allele frequency- T:0.00NS EA 420
    rs617385251,2
    		C,F,--64897153(+) ACTGTT/CGGACA 3 /P ut31 syn12Minor allele frequency- C:0.00NS NA 4586
    rs175199221,2
    		C,F,--64897326(+) GCTTGA/GATGTA 2 -- int15Minor allele frequency- G:0.03NA EA 376
    rs735205491,2
    		C,F,--64897511(+) ACATAC/TGTACA 2 -- int13Minor allele frequency- T:0.06WA CSA 122
    rs727544031,2
    		C,--64897573(+) CATACA/GTATTT 2 -- int10--------
    rs784187611,2
    		--64897586(+) AAATAG/TACATA 2 -- int10--------

    HapMap Linkage Disequilibrium report for ASPN (95218487 - 95244844 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for ASPN: --
    Human Gene Mutation Database (HGMD): ASPN

    SABiosciences Cancer Mutation PCR Assays
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    DNA2.0 Custom Variant and Variant Library Synthesis for ASPN

    Disorders / Diseases
    for ASPN gene

    (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
    ASPN for disorders           About GeneDecksing

    OMIM gene information: 608135   
    OMIM disorders: 607850  603932  
    UniProtKB/Swiss-Prot: ASPN_HUMAN, Q9BXN1
  • Genetic variations in ASPN are associated with susceptibility to osteoarthritis type 3 (OS3) [MIM:607850];
    • also known as osteoarthritis of knee/hip. Osteoarthritis is 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=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
  • Defects in ASPN are a cause of susceptibility to intervertebral disk 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=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)

    17 diseases for ASPN:    About MalaCards
    osteoarthritis    lumbar disc degeneration    periodontitis    developmental dysplasia of hip
    back pain    tumors of adrenal cortex    tietz syndrome    tietze's syndrome
    hypochondrogenesis    osteoarthritis susceptibility 3    rheumatoid arthritis    keloids
    spondylitis    arthritis    breast carcinoma    thyroiditis
    carcinoma

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

    4 Novoseek 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

    Publications
    for ASPN gene

    (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 50):
    (articles sorted by number of sources associating them with ASPN)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Mechanisms for asporin function and regulation in articular cartilage. (PubMed id 17827158)1, 2, 9 Nakajima M.... Ikegawa S. (2007)
    2. 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)
    3. 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)
    4. 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)
    5. 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)
    6. Association of the asporin D14 allele with lumbar-disc degeneration in Asians. (PubMed id 18304494)1, 2, 9 Song Y.Q....Chan D. (2008)
    7. Investigating the aspartic acid (D) repeat of asporin as a risk factor for osteoarthritis in a UK Caucasian population. (PubMed id 16255042)1, 4, 9 Mustafa Z....Loughlin J. (2005)
    8. Asporin competes with decorin for collagen binding, binds calcium and promotes osteoblast collagen mineralization. (PubMed id 19589127)1, 2 Kalamajski S.... Oldberg A. (2009)
    9. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)
    10. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (2003)

    External Searches for ASPN gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
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    Genome Databases showing ASPN gene

    (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

    Other Databases showing ASPN gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ASPN gene

    (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

    Intellectual Property
    for ASPN gene

    (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: 18 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013

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