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ASB2 Gene

protein-coding   GIFtS: 58
GCID: GC14M094400

Ankyrin Repeat And SOCS Box Containing 2

(Previous name: ankyrin repeat and SOCS box-containing 2)
  See ASB2-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
Ankyrin Repeat And SOCS Box Containing 21 2
ASB-22 3
Ankyrin Repeat And SOCS Box-Containing 21
Ankyrin Repeat And SOCS Box Protein 22
Ankyrin Repeat And SOCS Box-Containing Protein 2a2

External Ids:    HGNC: 160121   Entrez Gene: 516762   Ensembl: ENSG000001006287   OMIM: 6057595   UniProtKB: Q96Q273   

Export aliases for ASB2 gene to outside databases

Previous GC identifers: GC14M091907 GC14M088217 GC14M092390 GC14M093470 GC14M074580


(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 ASB2 Gene:
This gene encodes a member of the ankyrin repeat and SOCS box-containing (ASB) protein family. These proteins play
a role in protein degradation by coupling suppressor of cytokine signalling (SOCS) proteins with the elongin BC
complex. The encoded protein is a subunit of a multimeric E3 ubiquitin ligase complex that mediates the
degradation of actin-binding proteins. This gene plays a role in retinoic acid-induced growth inhibition and
differentiation of myeloid leukemia cells. Alternatively spliced transcript variants encoding multiple isoforms
have been observed for this gene. (provided by RefSeq, Jan 2011)

GeneCards Summary for ASB2 Gene:
ASB2 (ankyrin repeat and SOCS box containing 2) is a protein-coding gene. Diseases associated with ASB2 include mucopolysaccharidosis vi, and myeloid leukemia. GO annotations related to this gene include ubiquitin-protein ligase activity. An important paralog of this gene is ASB3.

UniProtKB/Swiss-Prot: ASB2_HUMAN, Q96Q27
Function: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3
ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of
target proteins

Gene Wiki entry for ASB2 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_000014.8  NT_026437.13  NT_187601.1  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the ASB2 gene promoter:
         E2F-4   E2F-3a   E2F-5   GATA-3   E2F-2   GATA-2   YY1   E2F   E2F-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): ASB2 promoter sequence
   Search Chromatin IP Primers for ASB2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ASB2


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

Entrez Gene cytogenetic band: 14q31-q32   Ensembl cytogenetic band:  14q32.12   HGNC cytogenetic band: 14q31-q32

ASB2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ASB2 gene location

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M094400:  view genomic region     (about GC identifiers)

Start:
94,400,499 bp from pter      End:
94,443,137 bp from pter
Size:
42,639 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, LSBio, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ASB2_HUMAN, Q96Q27 (See protein sequence)
Recommended Name: Ankyrin repeat and SOCS box protein 2  
Size: 587 amino acids; 65084 Da
Subunit: Component of a probable ECS E3 ubiquitin-protein ligase complex which contains CUL5, either RBX1 or
RNF7/RBX2, Elongin BC complex (TCEB1 and TCEB2) and ASB2
Secondary accessions: B2RDP9 B4E166 Q9NSU5 Q9Y567
Alternative splicing: 2 isoforms:  Q96Q27-1   Q96Q27-2   

Explore the universe of human proteins at neXtProt for ASB2: NX_Q96Q27

Explore proteomics data for ASB2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See ASB2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001189358.1  NP_057234.2  

    ENSEMBL proteins: 
     ENSP00000451575   ENSP00000320675   ENSP00000450940   ENSP00000451694   ENSP00000451654  
     ENSP00000451355  
    Reactome Protein details: Q96Q27

    ASB2 Human Recombinant Protein Products:

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    Novus Biologicals ASB2 Protein
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    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for ASB2

     
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    antibodies-online proteins for ASB2 (4 products) 

     
    antibodies-online peptides for ASB2

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    antibodies-online antibodies for ASB2 (26 products) 

    ASB2 Assay Products:

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    antibodies-online kits for ASB2 (8 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:
    ANKRD: Ankyrin repeat domain containing

    3 InterPro protein domains:
     IPR002110 Ankyrin_rpt
     IPR001496 SOCS_C
     IPR020683 Ankyrin_rpt-contain_dom

    Graphical View of Domain Structure for InterPro Entry Q96Q27

    ProtoNet protein and cluster: Q96Q27

    2 Blocks protein domains:
    IPB001496 SOCS protein
    IPB002110 Ankyrin repeat signature


    UniProtKB/Swiss-Prot: ASB2_HUMAN, Q96Q27
    Domain: The SOCS box domain mediates the interaction with the Elongin BC complex, an adapter module in different
    E3 ubiquitin-protein ligase complexes (By similarity)
    Similarity: Contains 12 ANK repeats
    Similarity: Contains 1 SOCS box domain


    Find genes that share domains with ASB2           About GenesLikeMe


    (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,
    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: ASB2_HUMAN, Q96Q27
    Function: Probable substrate-recognition component of a SCF-like ECS (Elongin-Cullin-SOCS-box protein) E3
    ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of
    target proteins
    Induction: By all-trans retinoic acid (ATRA)

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004842ubiquitin-protein ligase activity IEA--
    GO:0005515protein binding IPI16325183
         
    Find genes that share ontologies with ASB2           About GenesLikeMe


    Phenotypes:
         1 MGI mutant phenotype (inferred from 1 allele(MGI details for Asb2):
     immune system 

    Find genes that share phenotypes with ASB2           About GenesLikeMe

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ASB2
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ASB2
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    miRNA
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    miRTarBase miRNAs that target ASB2:
    hsa-mir-7-5p (MIRT025902), hsa-mir-335-5p (MIRT018815)

    Block miRNA regulation of human, mouse, rat ASB2 using miScript Target Protectors
    2 qRT-PCR Assays for microRNAs that regulate ASB2:
    hsa-miR-2117 hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidASB2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ASB2

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASB2 (NM_016150)
    Sino Biological Human cDNA Clone for ASB2
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASB2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ASB2

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASB2


    (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 COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    mitochondrion3
    extracellular1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0031466Cul5-RING ubiquitin ligase complex IEA--

    Find genes that share ontologies with ASB2           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 ASB2 About    
    See pathways by source

    SuperPathContained pathways About
    1Class I MHC mediated antigen processing and presentation
    Class I MHC mediated antigen processing and presentation0.84
    Adaptive Immune System0.41
    Antigen processing- Ubiquitination and Proteasome degradation0.84


    Find genes that share SuperPaths with ASB2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for ASB2
        Antigen processing: Ubiquitination & Proteasome degradation


    UniProtKB/Swiss-Prot: ASB2_HUMAN, Q96Q27
    Pathway: Protein modification; protein ubiquitination

        Pathway & Disease-focused RT2 Profiler PCR Arrays including ASB2: 

              T Helper Cell Differentiation in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ASB2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for ASB2 (Q96Q271, 2, 3 ENSP000003206754) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CUL5Q930341, 2, 3EBI-2880677,EBI-1057139 MINT-75029 MINT-77968 MINT-1786035 MINT-7986036 I2D: score=2 
    RNF7Q9UBF61, 2, 3, ENSP000002734804EBI-2880677,EBI-398632 MINT-75030 MINT-77969 I2D: score=2 STRING: ENSP00000273480
    SMAD9O151982, 3MINT-62147 I2D: score=3 
    TCEB2Q153703, ENSP000002623064I2D: score=3 STRING: ENSP00000262306
    CUL1Q136163, ENSP000003268044I2D: score=1 STRING: ENSP00000326804
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000209protein polyubiquitination IEA--
    GO:0007165signal transduction TAS9419338
    GO:0035556intracellular signal transduction IEA--
    GO:0035914skeletal muscle cell differentiation IEA--
    GO:0042787protein ubiquitination involved in ubiquitin-dependent protein catabolic process IEA--

    Find genes that share ontologies with ASB2           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 ASB2

    1 Novoseek inferred chemical compound relationship for ASB2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    retinoic acid 56.6 5 11682484 (2), 18799729 (1), 19118439 (1)



    Find genes that share compounds with ASB2           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 ASB2 gene (2 alternative transcripts): 
    NM_001202429.1  NM_016150.4  

    Unigene Cluster for ASB2:

    Ankyrin repeat and SOCS box containing 2
    Hs.510327  [show with all ESTs]
    Unigene Representative Sequence: AB488462
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000555019(uc001ycd.3) ENST00000315988(uc001ycc.2) ENST00000553883(uc001ycb.2)
    ENST00000555507(uc001yce.1) ENST00000556337 ENST00000556062 ENST00000555287
    ENST00000556793 ENST00000557613 ENST00000555374
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate ASB2:
    hsa-miR-2117 hsa-miR-4273
    SwitchGear 3'UTR luciferase reporter plasmidASB2 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ASB2
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    GenScript: all cDNA clones in your preferred vector (see all 2): ASB2 (NM_016150)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ASB2
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    Primer
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    OriGene qPCR primer pairs and template standards for ASB2
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASB2
      QuantiTect SYBR Green Assays in human, mouse, rat ASB2
      QuantiFast Probe-based Assays in human, mouse, rat ASB2

    Additional mRNA sequence: 

    AB056723.1 AB488462.1 AF159164.1 AJ251238.1 AK093271.1 AK303686.1 AK315628.1 AL137735.1 
    BC032354.1 

    10 DOTS entries:

    DT.411634  DT.100781417  DT.91787841  DT.95222152  DT.100020873  DT.430991  DT.91742313  DT.95268911 
    DT.120788112  DT.40251954 

    Selected AceView cDNA sequences (see all 79):

    BM545130 AA192619 BE856129 CD627574 AK093271 AI681453 AA761908 AW770858 
    AJ251238 AA180234 NM_016150 AI970956 BE219722 AA768364 AI872284 AA247746 
    BX956363 AA363184 AW341108 BI023931 AK057078 BE348445 AU137935 AA907918 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for ASB2 (see all 6)    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9
    SP1:              -     -           -                                         -                                 
    SP2:                                -                                         -                                 
    SP3:                                -           -     -     -     -           -                                 
    SP4:                                                                                                            
    SP5:                                -     -     -                                                               


    ECgene alternative splicing isoforms for ASB2

    (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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    ASB2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CCTCTACGGC
    ASB2 Expression
    About this image


    ASB2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
             Cardiomyocyte-like progenitor cells
     
     Gut Tube (Gastrointestinal Tract)    fully expand to see all 3 entries
             Hindgut
     
     Skeletal Muscle (Muscoskeletal System)
    ASB2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ASB2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.510327
        Pathway & Disease-focused RT2 Profiler PCR Arrays including ASB2: 
              T Helper Cell Differentiation in human mouse rat
              Ubiquitin Ligases in human mouse rat

    Primer
    Products:
    OriGene qPCR primer pairs and template standards for ASB2
    OriGene qSTAR qPCR primer pairs in human, mouse for ASB2
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat ASB2
    QuantiTect SYBR Green Assays in human, mouse, rat ASB2
    QuantiFast Probe-based Assays in human, mouse, rat ASB2
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ASB2

    (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 animals.

    Orthologs for ASB2 gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Asb21 , 5 ankyrin repeat and SOCS box-containing 21, 5 86.65(n)1
    90.22(a)1
      12 (52.90 cM)5
    652561  NM_023049.11  NP_075536.11 
     1033211425 
    chicken
    (Gallus gallus)
    Aves ASB21 ankyrin repeat and SOCS box containing 2 68.3(n)
    71.32(a)
      423428  XM_421337.4  XP_421337.1 
    lizard
    (Anolis carolinensis)
    Reptilia --
    --
    Uncharacterized protein
    72(a)
    67(a)
    many → 1
    many → 1
    AAWZ02040758(2238-6516)
    1(10361788-10398034)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia asb21 ankyrin repeat and SOCS box containing 2 62.5(n)
    64.08(a)
      100490014  XM_002933230.2  XP_002933276.2 
    zebrafish
    (Danio rerio)
    Actinopterygii asb2a.11 ankyrin repeat and SOCS box-containing 2a, tandem duplicate more 56.49(n)
    54.85(a)
      567986  XM_691298.6  XP_696390.3 
    worm
    (Caenorhabditis elegans)
    Secernentea M60.76
    Protein M60.7 (M60.7) mRNA, complete cds
    21(a)
    1 → many
    X(8258486-8261175) WBGene00019782


    ENSEMBL Gene Tree for ASB2 (if available)
    TreeFam Gene Tree for ASB2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ASB2 gene
    ASB32  ASB152  ASB142  
    16 SIMAP similar genes for ASB2 using alignment to 5 protein entries:     ASB2_HUMAN (see all proteins):
    ANK2    GPR75-ASB3    ASB14    ANK3    ANKRD54    IkBa
    RAI14    ANKRD44    ASB15    ANKRD10    GABPB1    ANKRD29
    ANKRD42    PSMD10    DKFZp761E1322    MTPN

    Find genes that share paralogs with ASB2           About GenesLikeMe



    (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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    Selected SNPs for ASB2 (see all 1086)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1481735291,2
    Cuntested194423193(+) CCGGCA/GAACTC 4 S L mis10--------
    rs1931160551,2
    --94400002(+) AATTCC/GTGCTC 2 -- ds50010--------
    rs1847599781,2
    --94400141(+) GCCAGC/TATTTA 2 -- ds50010--------
    rs1492814061,2
    C--94400244(+) GGTGTC/TGGGAG 2 -- ds50010--------
    rs1434421861,2
    C--94400245(+) GTGTCA/GGGAGA 2 -- ds50010--------
    rs767528961,2
    C,F--94400333(+) CATCCG/AGTCTT 2 -- ds50011Minor allele frequency- A:0.03WA 118
    rs1479882671,2
    --94400344(+) GCCTGA/GGGAGT 2 -- ds50010--------
    rs80040281,2
    C,F,H--94400368(+) TCTTGG/AGTCTT 2 -- ds50014Minor allele frequency- A:0.00NS EA 402
    rs1134029581,2
    C--94400394(+) TGACAC/TGTTCA 2 -- ds50012Minor allele frequency- T:0.07NA 122
    rs116255481,2
    C,F,A,H--94400431(+) CTGCCT/CCGCTC 2 -- ds500112Minor allele frequency- C:0.49NA WA CSA EA 375

    HapMap Linkage Disequilibrium report for ASB2 (94400499 - 94443137 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ASB2:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv1405CNV Insertion18451855
    nsv832861CNV Loss17160897

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing ASB2
    DNA2.0 Custom Variant and Variant Library Synthesis for ASB2

    (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.)
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    OMIM gene information: 605759    OMIM disorders: --

    2 diseases for ASB2:    
    About MalaCards
    mucopolysaccharidosis vi    myeloid leukemia

    1 disease from the University of Copenhagen DISEASES database for ASB2:
    Mucopolysaccharidosis VI

    Find genes that share disorders with ASB2           About GenesLikeMe

    3 Novoseek inferred disease relationships for ASB2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    leukemia promyelocytic acute 81.1 4 18799729 (1), 15590664 (1), 19376791 (1)
    myeloid leukemia 69.3 5 11682484 (2), 15590664 (1), 19376791 (1)
    leukemia 35.6 4 18799729 (2), 11566180 (1), 15590664 (1)

    Genetic Association Database (GAD): ASB2

    Export disorders for ASB2 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)
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    PubMed articles for ASB2 gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with ASB2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. ASB2 is an elongin BC-interacting protein that can assemble with cullin 5 and Rbx1 to reconstitute an E3 ubiquitin ligase complex. (PubMed id 15590664)1, 2, 9 Heuze M.L.... Lutz P.G. (J. Biol. Chem. 2005)
    2. ASB-2 inhibits growth and promotes commitment in myeloid leukemia cells. (PubMed id 11682484)1, 2, 9 Guibal F.C.... Cayre Y.E. (J. Biol. Chem. 2002)
    3. ATRA-regulated Asb-2 gene induced in differentiation of HL-60 leukemia cells. (PubMed id 11566180)1, 2, 9 Kohroki J.... Tanaka K. (FEBS Lett. 2001)
    4. Cloning and characterization of the genes encoding the ankyrin repeat and SOCS box-containing proteins Asb-1, Asb-2, Asb-3 and Asb-4. (PubMed id 11111040)1, 2, 9 Kile B.T....Alexander W.S. (Gene 2000)
    5. ASB proteins interact with cullin5 and Rbx2 to form E3 ubiquitin ligase complexes. (PubMed id 16325183)1, 2 Kohroki J.... Masuho Y. (FEBS Lett. 2005)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. ASB2 targets filamins A and B to proteasomal degradation. (PubMed id 18799729)1, 9 HeuzAc M.L....Lutz P.G. (Blood 2008)
    9. A label-free quantitative proteomics strategy to identify E3 ubiquitin ligase substrates targeted to proteasome degradation. (PubMed id 19376791)1, 9 Burande C.F....Lutz P.G. (amp 2009)
    10. ASB2I+, an E3 ubiquitin ligase specificity subunit, regulates cell spreading and triggers proteasomal degradation of filamins by targeting the filamin calponin homology 1 domain. (PubMed id 24052262)1 Razinia Z....Calderwood D.A. (J. Biol. Chem. 2013)

    (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)
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    Entrez Gene: 51676 HGNC: 16012 AceView: ASB2 Ensembl:ENSG00000100628 euGenes: HUgn51676
    ECgene: ASB2 H-InvDB: ASB2

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for ASB2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ASB2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ASB2 gene:
    Search GeneIP for patents involving ASB2

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



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