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

NUMBL Gene

protein-coding   GIFtS: 63
GCID: GC19M041171

Numb Homolog (Drosophila)-Like

(Previous name: numb (Drosophila) homolog-like)
  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
Numb Homolog (Drosophila)-Like1 2     NUMB-R2
Numb-Related Protein2 3     NUMBLIKE2
NBL2 5     TNRC232
NUMBR2 5     Numb Homolog-Like2
Numb (Drosophila) Homolog-Like1     Numb-Like Protein2
CAG3A2     Numb-R3
CTG3a2     

External Ids:    HGNC: 80611   Entrez Gene: 92532   Ensembl: ENSG000001052457   OMIM: 6040185   UniProtKB: Q9Y6R03   

Export aliases for NUMBL gene to outside databases

Previous GC identifers: GC19M041812 GC19M041564 GC19M045848 GC19M045864 GC19M045859 GC19M037605


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

GeneCards Summary for NUMBL Gene: 
NUMBL (numb homolog (Drosophila)-like) is a protein-coding gene. Diseases associated with NUMBL include trichinosis, and kawasaki disease, and among its related super-pathways are Notch signaling pathway. GO annotations related to this gene include protein binding. An important paralog of this gene is NUMB.

UniProtKB/Swiss-Prot: NUMBL_HUMAN, Q9Y6R0
Function: Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain
neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose
progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the
onset of embryonic neurogenesis. Also required postnatally in the subventricular zone (SVZ) neurogenesis by
regulating SVZ neuroblasts survival and ependymal wall integrity. Negative regulator of NF-kappa-B signaling
pathway. The inhibition of NF-kappa-B activation is mediated at least in part, by preventing MAP3K7IP2 to
interact with polyubiquitin chains of TRAF6 and RIPK1 and by stimulating the 'Lys-48'-linked polyubiquitination
and degradation of TRAF6 in cortical neurons

Gene Wiki entry for NUMBL 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_000019.9  NT_011109.16  NC_018930.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NUMBL gene promoter:
         COUP-TF1   Sp1   p53   Lmo2   COUP   HNF-4alpha2   GATA-2   HNF-4alpha1   COUP-TF   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNUMBL promoter sequence
   Search SABiosciences Chromatin IP Primers for NUMBL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NUMBL


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

Entrez Gene cytogenetic band: 19q13.13-q13.2   Ensembl cytogenetic band:  19q13.2   HGNC cytogenetic band: 19q13.13-q13.2

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

GeneLoc information about chromosome 19         GeneLoc Exon Structure

GeneLoc location for GC19M041171:  view genomic region     (about GC identifiers)

Start:
41,171,810 bp from pter      End:
41,196,877 bp from pter
Size:
25,068 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: NUMBL_HUMAN, Q9Y6R0 (See protein sequence)
Recommended Name: Numb-like protein  
Size: 609 amino acids; 64891 Da
Subunit: Interacts (via PTB domain) with MAP3K7IP2 (via C-terminal). Interacts (via C-terminal) with TRAF6 (via
TRAF domains). Associates with EPS15 and NOTCH1
Subcellular location: Cytoplasm (By similarity). Note=Symmetrically distributed throughout the cytoplasm in non
dividing neuroblasts of the CNS (By similarity)
1 PDB 3D structure from and Proteopedia for NUMBL:
3F0W (3D)    
Secondary accessions: Q7Z4J9

Explore the universe of human proteins at neXtProt for NUMBL: NX_Q9Y6R0

Explore proteomics data for NUMBL at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9Y6R0

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

    NUMBL Protein Expression
    REFSEQ proteins: NP_004747.1  
    ENSEMBL proteins: 
     ENSP00000252891   ENSP00000472400   ENSP00000442759   ENSP00000469310   ENSP00000469736  
     ENSP00000470794   ENSP00000471376  

    Human Recombinant Protein Products for NUMBL: 
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    OriGene Protein Over-expression Lysate for NUMBL
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NUMBL 

    Gene Ontology (GO): 1 cellular component term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IEA--

    NUMBL for ontologies           About GeneDecksing



    NUMBL Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of NUMBL
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    Novus Biologicals NUMBL Antibodies
    Abcam antibodies for NUMBL
    Cloud-Clone Corp. Antibodies for NUMBL 
    ThermoFisher Antibodies for NUMBL
    LSBio Antibodies in human, mouse, rat for NUMBL 

    Assay Products for NUMBL: 
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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NUMBL 
    Cloud-Clone Corp. CLIAs for NUMBL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR011993 PH_like_dom
     IPR010449 Numb_domain
     IPR006020 PTyr_interaction_dom
     IPR016698 Numb/numb-like

    Graphical View of Domain Structure for InterPro Entry Q9Y6R0

    ProtoNet protein and cluster: Q9Y6R0

    2 Blocks protein domains:
    IPB006020 Phosphotyrosine interaction domain
    IPB010449 NUMB phenylalanine-rich


    UniProtKB/Swiss-Prot: NUMBL_HUMAN, Q9Y6R0
    Domain: The PTB domain is necessary for the inhibition of MAP3K7IP2-mediated activation of NF-kappa-B
    Similarity: Contains 1 PID domain


    NUMBL 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: NUMBL_HUMAN, Q9Y6R0
    Function: Plays a role in the process of neurogenesis. Required throughout embryonic neurogenesis to maintain
    neural progenitor cells, also called radial glial cells (RGCs), by allowing their daughter cells to choose
    progenitor over neuronal cell fate. Not required for the proliferation of neural progenitor cells before the
    onset of embryonic neurogenesis. Also required postnatally in the subventricular zone (SVZ) neurogenesis by
    regulating SVZ neuroblasts survival and ependymal wall integrity. Negative regulator of NF-kappa-B signaling
    pathway. The inhibition of NF-kappa-B activation is mediated at least in part, by preventing MAP3K7IP2 to
    interact with polyubiquitin chains of TRAF6 and RIPK1 and by stimulating the 'Lys-48'-linked polyubiquitination
    and degradation of TRAF6 in cortical neurons

         Genatlas biochemistry entry for NUMBL:
    Drosophila numb homolog-like,signal transducer Eps15-2 of yeast,nematode homolog

         Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16713569
         
    NUMBL for ontologies           About GeneDecksing


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Numbl):
     behavior/neurological  cellular  embryogenesis  growth/size  hearing/vestibular/ear 
     hematopoietic system  mortality/aging  nervous system  normal  reproductive system 

    NUMBL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Numbltm1Wmz for NUMBL

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target NUMBL:
    hsa-mir-122 (MIRT003111)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NUMBL
    8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate NUMBL (see all 55):
    hsa-miR-140-5p hsa-miR-328 hsa-let-7d hsa-miR-548k hsa-miR-200a hsa-miR-374a hsa-miR-218 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidNUMBL 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    OriGene clones in human, mouse for NUMBL (see all 7)
    OriGene ORF clones in mouse, rat for NUMBL
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    GenScript: all cDNA clones in your preferred vector: NUMBL (NM_004756)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUMBL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUMBL
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                         Customized lentivirus expression plasmids for stable overexpression of NUMBL 

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    GenScript Custom overexpressing Cell Line Services for NUMBL
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUMBL


    (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 NUMBL About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Notch signaling pathway
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    2 BioSystems Pathways for NUMBL
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway


    1         Kegg Pathway  (Kegg details for NUMBL):
        Notch signaling pathway


    NUMBL for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for NUMBL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/32 Interacting proteins for NUMBL (Q9Y6R01, 2, 3 ENSP000002528914) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RBFOX1Q9NWB11, 2, 3, ENSP000003091174EBI-945925,EBI-945906 MINT-2866238 MINT-2854978 I2D: score=3 STRING: ENSP00000309117
    ATXN1P542532, 3, ENSP000002447694MINT-2866257 I2D: score=3 STRING: ENSP00000244769
    EGFRP005332, 3, ENSP000002754934MINT-74594 I2D: score=1 STRING: ENSP00000275493
    APPP050673, ENSP000002849814I2D: score=1 STRING: ENSP00000284981
    LNX2Q8N4483, ENSP000003259294I2D: score=1 STRING: ENSP00000325929
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007399nervous system development TAS9303539
    GO:0007405neuroblast proliferation ----
    GO:0007409axonogenesis IEA--
    GO:0019221cytokine-mediated signaling pathway IDA18299187
    GO:0019538protein metabolic process IDA--

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

    Browse Tocris compounds for NUMBL

    Search CenterWatch for drugs/clinical trials and news about NUMBL

    (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 NUMBL gene: 
    NM_004756.3  

    Unigene Cluster for NUMBL:

    Numb homolog (Drosophila)-like
    Hs.326953  [show with all ESTs]
    Unigene Representative Sequence: NM_004756
    11 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000252891(uc010xvq.2 uc002oon.3 uc002ooo.3 uc010xvr.2)
    ENST00000598779 ENST00000540131 ENST00000600967 ENST00000593367 ENST00000598773
    ENST00000595741 ENST00000599786 ENST00000600636 ENST00000599594 ENST00000598759

    miRNA
    Products:
         
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NUMBL
    8/55 QIAGEN miScript miRNA Assays for microRNAs that regulate NUMBL (see all 55):
    hsa-miR-140-5p hsa-miR-328 hsa-let-7d hsa-miR-548k hsa-miR-200a hsa-miR-374a hsa-miR-218 hsa-miR-449a
    SwitchGear 3'UTR luciferase reporter plasmidNUMBL 3' UTR sequence
    Inhib. RNA
    Products:
         
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    OriGene RNAi products in human, mouse, rat for NUMBL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NUMBL
    Clone
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    OriGene clones in human, mouse for NUMBL (see all 7)
    OriGene ORF clones in mouse, rat for NUMBL
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    GenScript: all cDNA clones in your preferred vector: NUMBL (NM_004756)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUMBL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUMBL
    Sirion Biotech Customized lentivirus for stable overexpression of NUMBL 
                         Customized lentivirus expression plasmids for stable overexpression of NUMBL 
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NUMBL
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat NUMBL
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NUMBL
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NUMBL

    Additional mRNA sequence: 

    AF015041.1 AK096566.1 AK289398.1 AK299484.1 BC001794.1 BC144583.1 BT009807.1 U80758.1 

    9 DOTS entries:

    DT.95361052  DT.422730  DT.92424656  DT.92021038  DT.121458490  DT.75181753  DT.91911673  DT.75105988 
    DT.95155937 

    24/108 AceView cDNA sequences (see all 108):

    BU164698 AA280019 BQ187760 BQ184844 AI089522 BQ925542 CA776928 BI791777 
    AI360173 AW450233 BQ720709 BU838127 CA776315 BF512426 BT009807 AI286066 
    AI969852 AU118410 BQ688296 CA450278 BQ710383 BF195099 BI713549 BM848010 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for NUMBL    About this scheme

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


    ECgene alternative splicing isoforms for NUMBL

    (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

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


    NUMBL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Brain (Nervous System)    fully expand to see all 15 entries
             Thalamus
             Septum   
     
     Spinal Cord (Nervous System)    fully expand to see all 2 entries
             Dorsal Horn   
     
     Pancreas (Endocrine System)

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

    SOURCE GeneReport for Unigene cluster: Hs.326953
        SABiosciences Custom PCR Arrays for NUMBL
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat NUMBL
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUMBL

    (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 animals.

    Orthologs for NUMBL gene from 5/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Numbl1 , 5 numb-like1, 5 89.24(n)1
    95.86(a)1
      7 (15.86 cM)5
    182231  NM_010950.21  NP_035080.21 
     272584335 
    lizard
    (Anolis carolinensis)
    Reptilia NUMBL6
    Uncharacterized protein
    66(a)
    1 ↔ 1
    LGf(2646123-2684079)
    zebrafish
    (Danio rerio)
    Actinopterygii numbl1 numb homolog (Drosophila)-like 65.82(n)
    66.97(a)
      497616  NM_001012375.3  NP_001012375.3 
    fruit fly
    (Drosophila melanogaster)
    Insecta numb3 N receptor signaling pathway protein
    binding
    56(a)   30B5   --
    worm
    (Caenorhabditis elegans)
    Secernentea num-16
    Numb-related protein 1
    24(a)
    1 → many
    V(20829811-20837552)


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NUMBL gene
    NUMB2  LDLRAP12  GULP12  
    2 SIMAP similar genes for NUMBL using alignment to 6 protein entries:     NUMBL_HUMAN (see all proteins):
    CTG3a    NUMB

    NUMBL for paralogs           About GeneDecksing



    (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

    10/593 SNPs in NUMBL are shown (see all 593)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 19 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1445301831,2
    --41171347(+) AGGCAC/TGAGCC 1 -- ds50010--------
    rs1478122411,2
    --41171387(+) TTTTTA/GGACAG 1 -- ds50010--------
    rs1413851871,2
    --41171565(+) ACAGGG/TTCTCA 1 -- ds50010--------
    rs1503205581,2
    --41171693(+) TTTCAC/TGACTG 1 -- ds50010--------
    rs1853570361,2
    --41171711(+) CTTTGA/GCCCAC 1 -- ds50010--------
    rs48033551,2
    C,H--41171757(+) ACTTCC/TCCATC 1 -- ds50015Minor allele frequency- T:0.00NS EA NA 420
    rs1449637131,2
    C--41171770(+) TCCAGC/TGGGAA 1 -- ds50010--------
    rs1490266831,2
    --41171839(+) AATTTA/GTATGT 1 -- ut310--------
    rs104097841,2
    C,A,H--41172058(+) TTTTTG/TTTTTT 1 -- ut310--------
    rs575311991,2
    C--41172070(+) TTTTT-/TTTTTTGT
    TTTTTTTTTTT
    GAGAC
    2 -- ut31 cds11Minor allele frequency- TTTTTTGTTTTTTTTTTTT:0.00NA 2

    HapMap Linkage Disequilibrium report for NUMBL (41171810 - 41196877 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for NUMBL:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv820299CNV Loss19587683
    dgv3871n71CNV Loss21882294
    nsv2489CNV Loss18451855
    dgv3869n71CNV Loss21882294


    Human Gene Mutation Database (HGMD): NUMBL
    SABiosciences Cancer Mutation PCR Assays
    1 SABiosciences qBiomarker Copy Number PCR Array containing NUMBL:
    Glioma
    SeqTarget long-range PCR primers for resequencing NUMBL
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604018    OMIM disorders: --

    4 diseases for NUMBL:    About MalaCards
    trichinosis    kawasaki disease    schizophrenia    neuronitis

    1 disease from the University of Copenhagen DISEASES database for NUMBL:
    Neuroblastoma

    NUMBL for disorders           About GeneDecksing

    Genetic Association Database (GAD): NUMBL
    Human Genome Epidemiology (HuGE) Navigator: NUMBL (2 documents)

    Export disorders for NUMBL 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 NUMBL gene, integrated from 9 sources (see all 25):
    (articles sorted by number of sources associating them with NUMBL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module. (PubMed id 9303539)1, 2, 3 Salcini A.E....Di Fiore P.P. (1997)
    2. NUMBL interacts with TRAF6 and promotes the degradation of TRAF6. (PubMed id 20079715)1, 2 Zhou L.... Huo K. (2010)
    3. Mutation and copy number analysis of LNX1 and Numbl in nervous system tumors. (PubMed id 18940473)1, 4 Blom T....Nupponen N.N. (2008)
    4. NUMBL interacts with TAB2 and inhibits TNFalpha and I L-1beta-induced NF-kappaB activation. (PubMed id 18299187)1, 2 Ma Q....Huo K. (2008)
    5. Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects. (PubMed id 16899352)1, 4 Passos Gregorio S....Dias-Neto E. (2006)
    6. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    7. 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. (2004)
    8. cDNAs with long CAG trinucleotide repeats from human brain. (PubMed id 9225980)1, 3 Margolis R.L.... Ross C.A. (1997)
    9. Regulation of lung cancer metastasis by Klf4-Numb-like signaling. (PubMed id 23440423)1 Vaira V....Altieri D.C. (2013)
    10. A genome-wide association study identifies three new r isk loci for Kawasaki disease. (PubMed id 22446962)1 Onouchi Y.... . (2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    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: 9253 HGNC: 8061 AceView: NUMBL Ensembl:ENSG00000105245 euGenes: HUgn9253
    ECgene: NUMBL Kegg: 9253 H-InvDB: NUMBL

    (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 NUMBL 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 NUMBL gene:
    Search GeneIP for patents involving NUMBL

    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: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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