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NUMB Gene

protein-coding   GIFtS: 68
GCID: GC14M073741

Numb Homolog (Drosophila)

(Previous names: numb (Drosophila) homolog, chromosome 14 open reading frame...)
(Previous symbol: C14orf41)
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(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
Numb Homolog (Drosophila)1 2     Numb (Drosophila) Homolog1
C14orf411 2     c14_55272
h-Numb2 3     Protein Numb Homolog2
S1712 5     Protein S1713
Chromosome 14 Open Reading Frame 411     

External Ids:    HGNC: 80601   Entrez Gene: 86502   Ensembl: ENSG000001339617   OMIM: 6037285   UniProtKB: P497573   

Export aliases for NUMB gene to outside databases

Previous GC identifers: GC14M071246 GC14M067537 GC14M071731 GC14M072811 GC14M053907


(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 NUMB Gene:
The protein encoded by this gene plays a role in the determination of cell fates during development. The encoded
protein, whose degradation is induced in a proteasome-dependent manner by MDM2, is a membrane-bound protein that
has been shown to associate with EPS15, LNX1, and NOTCH1. Four transcript variants encoding different isoforms
have been found for this gene. (provided by RefSeq, Jul 2008)

GeneCards Summary for NUMB Gene:
NUMB (numb homolog (Drosophila)) is a protein-coding gene. Diseases associated with NUMB include lip disease, and tactile agnosia. GO annotations related to this gene include alpha-catenin binding and beta-catenin binding. An important paralog of this gene is NUMBL.

UniProtKB/Swiss-Prot: NUMB_HUMAN, P49757
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 neurogenesis. Also involved postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ
neuroblasts survival and ependymal wall integrity. May also mediate local repair of brain ventricular wall damage

Gene Wiki entry for NUMB 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:
NC_000014.9  NT_026437.13  NC_018925.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NUMB gene promoter:
         AP-2alpha isoform 3   AP-2alpha isoform 2   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNUMB promoter sequence
   Search Chromatin IP Primers for NUMB

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


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

Entrez Gene cytogenetic band: 14q24.3   Ensembl cytogenetic band:  14q24.3   HGNC cytogenetic band: 14q24.3

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

GeneLoc information about chromosome 14         GeneLoc Exon Structure

GeneLoc location for GC14M073741:  view genomic region     (about GC identifiers)

Start:
73,741,815 bp from pter      End:
73,930,348 bp from pter
Size:
188,534 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, 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., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NUMB_HUMAN, P49757 (See protein sequence)
Recommended Name: Protein numb homolog  
Size: 651 amino acids; 70804 Da
Subunit: Interacts with CDH1 and TFAP2B (By similarity). Interacts with EPS15, LNX and NOTCH1. May interact with
DUOXA1. Interacts with RALBP1 in a complex also containing EPN1 and TFAP2A during interphase and mitosis
Sequence caution: Sequence=AAH20788.1; Type=Miscellaneous discrepancy; Note=Intron retention;
Secondary accessions: B1P2N5 B1P2N6 B1P2N7 B1P2N8 B1P2N9 B4E2B1 Q6NUQ7 Q86SY1 Q8WW73 Q9UBG1
Q9UEQ4 Q9UKE8 Q9UKE9 Q9UKF0 Q9UQJ4
Alternative splicing: 9 isoforms:  P49757-1   P49757-2   P49757-3   P49757-4   P49757-5   P49757-6   P49757-7   P49757-8   
P49757-9   

Explore the universe of human proteins at neXtProt for NUMB: NX_P49757

Explore proteomics data for NUMB at MOPED

Post-translational modifications: 

  • Phosphorylated on Ser-276 and Ser-295 by CaMK1 (By similarity)1
  • Isoform 1 and isoform 2 are ubiquitinated by LNX leading to their subsequent proteasomal degradation (By
    similarity). Ubiquitinated; mediated by SIAH1 and leading to its subsequent proteasomal degradation1
  • Ubiquitination2 at Lys286
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001005743.1  NP_001005744.1  NP_001005745.1  NP_003735.3  

    ENSEMBL proteins: 
     ENSP00000452416   ENSP00000348644   ENSP00000451117   ENSP00000451300   ENSP00000451513  
     ENSP00000451625   ENSP00000452888   ENSP00000453209   ENSP00000452069   ENSP00000450817  
     ENSP00000451326   ENSP00000452357   ENSP00000451374   ENSP00000451559   ENSP00000451959  
     ENSP00000347169   ENSP00000352563   ENSP00000394025   ENSP00000446001   ENSP00000441258  
    Reactome Protein details: P49757

    NUMB Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins for NUMB
    OriGene Protein Over-expression Lysate for NUMB
    OriGene MassSpec for NUMB
    OriGene Custom Protein Services for NUMB
    GenScript Custom Purified and Recombinant Proteins Services for NUMB
    Novus Biologicals NUMB Proteins
    Novus Biologicals NUMB Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NUMB

    NUMB Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NUMB
    R&D Systems Antibodies for NUMB
    Cell Signaling Technology (CST) Antibodies for NUMB 
    OriGene Antibodies for NUMB
    OriGene Custom Antibody Services for NUMB
    Novus Biologicals NUMB Antibodies
    Abcam antibodies for NUMB
    Cloud-Clone Corp. Antibodies for NUMB
    ThermoFisher Antibody for NUMB
    LSBio Antibodies in human, mouse, rat for NUMB

    NUMB Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NUMB
    R&D Systems ELISAs for NUMB
    GenScript Custom Assay Services for NUMB
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NUMB
    Cloud-Clone Corp. CLIAs for NUMB


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

    Graphical View of Domain Structure for InterPro Entry P49757

    ProtoNet protein and cluster: P49757

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


    UniProtKB/Swiss-Prot: NUMB_HUMAN, P49757
    Similarity: Contains 1 PID domain


    NUMB 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NUMB_HUMAN, P49757
    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 neurogenesis. Also involved postnatally in the subventricular zone (SVZ) neurogenesis by regulating SVZ
    neuroblasts survival and ependymal wall integrity. May also mediate local repair of brain ventricular wall damage

         Genatlas biochemistry entry for NUMB:
    Drosophila numb homolog,signal transducer Eps15 of yeast,nematode homolog

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI17203073
    GO:0008013beta-catenin binding IEA--
    GO:0045294alpha-catenin binding IEA--
    GO:0045296cadherin binding IEA--
         
    NUMB for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NUMB:
     Synthetic lethal with Ras 

         12 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Numb):
     behavior/neurological  cardiovascular system  cellular  embryogenesis  growth/size/body 
     hearing/vestibular/ear  hematopoietic system  homeostasis/metabolism  mortality/aging  nervous system 
     normal  reproductive system 

    NUMB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NUMB: Numbtm1.1Ynj Numbtm1.1Zili

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NUMB
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NUMB

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target NUMB:
    hsa-mir-103a-3p (MIRT027189), hsa-mir-335-5p (MIRT019211), hsa-mir-31-5p (MIRT004970), hsa-mir-29c-3p (MIRT020360), hsa-mir-375 (MIRT020047)

    Block miRNA regulation of human, mouse, rat NUMB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NUMB (see all 18):
    hsa-miR-429 hsa-miR-146a hsa-miR-1271 hsa-miR-219-5p hsa-miR-374a hsa-miR-410 hsa-miR-508-3p hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidNUMB 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NUMB
    Predesigned siRNA for gene silencing in human, mouse, rat NUMB

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NUMB

    Clone
    Products:
         
    OriGene clones in human, mouse for NUMB (see all 25)
    OriGene ORF clones in mouse, rat for NUMB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NUMB (NM_003744)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUMB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUMB

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NUMB
    Browse ESI BIO Cell Lines and PureStem Progenitors for NUMB 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NUMB


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    NUMB_HUMAN, P49757: Membrane; Peripheral membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    cytosol3
    nucleus3
    cytoskeleton2
    endosome2

    Gene Ontology (GO): Selected cellular component terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IEA--
    GO:0005737cytoplasm ----
    GO:0005769early endosome IEA--
    GO:0005886plasma membrane TAS--
    GO:0005887integral component of plasma membrane TAS7596406

    NUMB for ontologies           About GeneDecksing


    (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 NUMB About   (see all 13)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Notch signaling pathway (KEGG)
    Notch signaling pathway0.84
    Delta-Notch Signaling Pathway0.33
    Notch Signaling Pathway0.84
    2Signaling by NOTCH1 PEST Domain Mutants in Cancer
    Signaling by NOTCH1 PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH1 t(7;9)(NOTCH1-M1580 K2555) Translocation Mutant0.79
    Signaling by NOTCH1 HD Domain Mutants in Cancer0.79
    FBXW7 Mutants and NOTCH1 in Cancer0.79
    Signaling by NOTCH1 in Cancer0.79
    Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer0.79
    Signaling by NOTCH10.79
    Signaling by NOTCH0.64
    3L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    4Signaling by NOTCH2
    Activated NOTCH1 Transmits Signal to the Nucleus0.61
    5Signaling by GPCR
    Signal Transduction0.58

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 R&D Systems Pathway for NUMB
        Notch Signaling Pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for NUMB
        Molecular Mechanisms of Cancer

    2 Cell Signaling Technology (CST) Pathways for NUMB
        Wnt / Hedgehog / Notch
    Neuroscience

    4 BioSystems Pathways for NUMB
        Notch Signaling Pathway
    Delta-Notch Signaling Pathway
    Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met)
    Notch signaling pathway

    2 Reactome Pathways for NUMB
        Recycling pathway of L1
    Activated NOTCH1 Transmits Signal to the Nucleus


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


    NUMB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NUMB: 
              Hedgehog Signaling Pathway in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Stem Cells in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NUMB

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

    Selected Interacting proteins for NUMB (P497571, 2, 3 ENSP000003471694) via UniProtKB, MINT, STRING, and/or I2D (see all 83)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PRKCZQ055131, 2, 3, ENSP000003678304EBI-7199607,EBI-295351 MINT-4298232 MINT-4298218 MINT-4298249 MINT-4298283 I2D: score=1 STRING: ENSP00000367830
    EPS15P425662, 3, ENSP000003607984MINT-17946 MINT-17947 I2D: score=5 STRING: ENSP00000360798
    AP2A1O957822, 3, ENSP000003519264MINT-4298264 I2D: score=2 STRING: ENSP00000351926
    EGFRP005332, 3, ENSP000002754934MINT-74593 I2D: score=2 STRING: ENSP00000275493
    LNX1Q8TBB13, ENSP000002639254I2D: score=5 STRING: ENSP00000263925
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 13):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007219Notch signaling pathway TAS--
    GO:0007399nervous system development ----
    GO:0007405neuroblast proliferation ----
    GO:0007409axonogenesis ----
    GO:0007411axon guidance TAS--

    NUMB for ontologies           About GeneDecksing



    (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 NUMB



    (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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NUMB gene (4 alternative transcripts): 
    NM_001005743.1  NM_001005744.1  NM_001005745.1  NM_003744.5  

    Unigene Clusters for NUMB:

    Numb homolog (Drosophila)
    Hs.525443  [show with all ESTs], Hs.654609  [show with all ESTs]
    Unigene Representative Sequences: AK055876, AK226069
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 33):
    ENST00000554546(uc010ttz.1 uc010arp.1 uc010arr.1 uc001xoa.1 uc001xob.1)
    ENST00000356296(uc001xod.1) ENST00000557597 ENST00000555238(uc010aro.1 uc010arq.1 uc001xny.1 uc001xnz.1 uc001xoc.1 uc010ars.1)
    ENST00000556772 ENST00000555394(uc001xof.1 uc001xog.3) ENST00000559312
    ENST00000560335 ENST00000555738 ENST00000554521 ENST00000554014 ENST00000553997
    ENST00000557486 ENST00000555859 ENST00000555307 ENST00000554394 ENST00000554315(uc001xoh.1)
    ENST00000556989

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NUMB using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NUMB (see all 18):
    hsa-miR-429 hsa-miR-146a hsa-miR-1271 hsa-miR-219-5p hsa-miR-374a hsa-miR-410 hsa-miR-508-3p hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidNUMB 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NUMB
    Predesigned siRNA for gene silencing in human, mouse, rat NUMB
    Clone
    Products:
         
    OriGene clones in human, mouse for NUMB (see all 25)
    OriGene ORF clones in mouse, rat for NUMB
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 4): NUMB (NM_003744)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NUMB
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NUMB
    Primer
    Products:
        
    OriGene qPCR primer pairs and template standards for NUMB
    OriGene qSTAR qPCR primer pairs in human, mouse for NUMB
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NUMB
      QuantiTect SYBR Green Assays in human, mouse, rat NUMB
      QuantiFast Probe-based Assays in human, mouse, rat NUMB

    Additional mRNA sequence: 

    AF015040.1 AF108092.1 AF171938.1 AF171939.1 AF171940.1 AF171941.1 AK023670.1 AK092975.1 
    AK226069.1 AK300602.1 AK304193.1 AK315130.1 BC020788.1 BC033824.1 BC068476.1 BX248073.1 
    BX248775.1 BX248781.1 BX647137.1 EU265734.1 EU265735.1 EU265736.1 EU265737.1 EU265738.1 
    L40393.1 

    Selected DOTS entries (see all 35):

    DT.417960  DT.95261004  DT.95261062  DT.100828613  DT.95261159  DT.40125317  DT.101958534  DT.95122429 
    DT.95261058  DT.101984283  DT.40107298  DT.75105596  DT.120758323  DT.310351  DT.100828610  DT.100828614 
    DT.120758409  DT.100035916  DT.95146246  DT.310353  DT.100746813  DT.99958597  DT.100774353  DT.120758443 

    Selected AceView cDNA sequences (see all 281):

    BM853932 AL541223 F03234 AA236028 BG697811 CD370867 BG548331 BQ009315 
    AA486828 BI756378 BM856053 BM841742 BU676020 AI080408 AW512226 BQ049415 
    AA890469 BC033824 AI333340 F01718 AA278312 AW780348 AA600285 AI198325 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for NUMB (see all 16)    About this scheme

    ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7a · 7b · 7c ^ 8a · 8b ^ 9 ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13a · 13b · 13c ^
    SP1:                          -           -                                   -     -           -     -     -                                               -   
    SP2:                          -           -                                   -     -           -     -     -                                               -   
    SP3:                          -           -                                   -     -     -     -     -     -                                               -   
    SP4:                          -           -                                   -     -     -     -     -     -                                               -   
    SP5:                                      -     -                             -     -           -     -     -                                               -   

    ExUns: 14a · 14b · 14c · 14d ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c · 17d
    SP1:                                -                                 
    SP2:                                -     -                           
    SP3:                                -                                 
    SP4:                                -     -                           
    SP5:                                -     -                           


    ECgene alternative splicing isoforms for NUMB

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


    NUMB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Brain (Nervous System)    fully expand to see all 8 entries
             Thalamus
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Lung (Respiratory System)
     
     Thyroid (Endocrine System)
     
     Esophagus (Gastrointestinal Tract)
    NUMB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NUMB Protein Expression

    SOURCE GeneReport for Unigene clusters: Hs.525443 Hs.654609
        Pathway & Disease-focused RT2 Profiler PCR Arrays including NUMB: 
              Hedgehog Signaling Pathway in human mouse rat
              Embryonic Stem Cells in human mouse rat
              Notch Signaling Pathway in human mouse rat
              Stem Cells in human mouse rat

    Primer
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    (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 NUMB gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Numb1 , 5 numb gene homolog (Drosophila)1, 5 89.55(n)1
    93.7(a)1
      12 (38.89 cM)5
    182221  NM_001136075.21  NP_001129547.11 
     837940345 
    chicken
    (Gallus gallus)
    Aves NUMB1 numb homolog (Drosophila) 77.41(n)
    83.36(a)
      395639  NM_204835.1  NP_990166.1 
    lizard
    (Anolis carolinensis)
    Reptilia NUMB6
    numb homolog (Drosophila)
    82(a)
    1 ↔ 1
    1(39077910-39113045)
    African clawed frog
    (Xenopus laevis)
    Amphibia BG364060.12   -- 73.47(n)    BG364060.1 
    zebrafish
    (Danio rerio)
    Actinopterygii numb1 numb homolog (Drosophila) 65.28(n)
    68.9(a)
      692064  NM_001040406.1  NP_001035496.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta numb3 N receptor signaling pathway protein
    binding
    56(a)   30B5   --
    worm
    (Caenorhabditis elegans)
    Secernentea num-16
    Protein NUM-1, isoform d
    27(a)
    1 → many
    V(20829811-20837552) WBGene00003830


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NUMB gene
    NUMBL2  LDLRAP12  GULP12  
    1 SIMAP similar gene for NUMB using alignment to 6 protein entries:     NUMB_HUMAN (see all proteins):
    NUMBL

    NUMB 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), 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 NUMB (see all 3824)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 14 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1124943111,2
    C,F--53927065(+) TGGGAG/CGCCGA 4 -- int12Minor allele frequency- C:0.50NA 4
    rs128806931,2
    C,F--53927068(+) GACGCT/CGAGGT 4 -- int14Minor allele frequency- C:0.30NA 10
    rs2007857601,2
    --53987049(+) ACAGG-/CCAGGC 4 -- int10--------
    rs2000482441,2
    C--53987062(+) GGTGGC/TTCAGG 4 -- int10--------
    rs2006590171,2
    C--53987065(+) GGCTCA/CGGCCT 4 -- int10--------
    rs1113818201,2
    C--54018364(+) GCTTTTTTG/-  
            
    TTTTG
    4 -- int11Minor allele frequency- -:0.50CSA 2
    rs361361681,2
    C--54018368(+) TTTTG-/CTT   
      G
    /GTTT
    TTTGT
    4 -- int10--------
    rs58096131,2
    C--54048791(+) TGCTT-/G/GCTT
            
    CTCAT
    4 -- int11NA 2
    rs2013492111,2
    --54048906(+) AACAA-/CATTGTTA 4 -- int10--------
    rs1120549381,2
    F--54069986(+) ATTTTC/TAGTAA 4 -- int11Minor allele frequency- T:0.50CSA 2

    HapMap Linkage Disequilibrium report for NUMB (73741815 - 73930348 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for NUMB:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2671759CNV Deletion23128226
    esv2659371CNV Deletion23128226
    esv1057343CNV Insertion17803354
    nsv513412CNV Insertion21212237
    nsv513411CNV Insertion21212237
    esv2651254CNV Insertion19546169
    nsv902085CNV Gain21882294
    dgv1958n71CNV Gain21882294
    nsv826974CNV Gain20364138

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

    (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.)
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    OMIM gene information: 603728    OMIM disorders: --

    Selected diseases for NUMB (see all 21):    About MalaCards
    lip disease    tactile agnosia    sensory peripheral neuropathy    agnosia
    peripheral neuropathy    neuropathy    myelodysplastic syndromes    chronic myeloid leukemia
    acute myeloid leukemia    astrocytoma    bipolar disorder    myeloid leukemia
    atherosclerosis    cervicitis    pancreatic cancer    breast cancer
    alzheimer's disease    leukemia    pancreatitis    cerebritis

    2 diseases from the University of Copenhagen DISEASES database for NUMB:
    Tactile agnosia     Lip disease

    NUMB for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    3 Novoseek inferred disease relationships for NUMB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    breast cancer 5.13 1 16452208 (1)
    tumors 4.74 5 15492044 (3), 17332928 (2)
    cancer 0 1 17332928 (1)

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

    Export disorders for NUMB 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 NUMB gene, integrated from 10 sources (see all 92):
    (articles sorted by number of sources associating them with NUMB)
        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, 9 Salcini A.E.... Di Fiore P.P. (Genes Dev. 1997)
    2. Characterization and role of NUMB in the human extravillous trophopblast. (PubMed id 21486681)1, 2 Haider M.... Gruslin A. (Placenta 2011)
    3. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PubMed id 17903303)1, 4 O'Donnell C.J....Demissie S. (BMC Med. Genet. 2007)
    4. A probability-based approach for high-throughput protein phosphorylation analysis and site localization. (PubMed id 16964243)1, 2 Beausoleil S.A.... Gygi S.P. (Nat. Biotechnol. 2006)
    5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (Cell 2006)
    6. A novel transmembrane protein recruits numb to the plasma membrane during asymmetric cell division. (PubMed id 14670962)1, 2 Qin H.... Li S.S.-C. (J. Biol. Chem. 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. 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)
    9. RLIP, an effector of the Ral GTPases, is a platform for Cdk1 to phosphorylate epsin during the switch off of endocytosis in mitosis. (PubMed id 12775724)1, 2 Rosse C.... Camonis J. (J. Biol. Chem. 2003)
    10. Siah-1 binds and regulates the function of Numb. (PubMed id 11752454)1, 2 Susini L.... Telerman A. (Proc. Natl. Acad. Sci. U.S.A. 2001)

    (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: 8650 HGNC: 8060 AceView: NUMB Ensembl:ENSG00000133961 euGenes: HUgn8650
    ECgene: NUMB Kegg: 8650 H-InvDB: NUMB

    (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 NUMB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NUMB 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 NUMB gene:
    Search GeneIP for patents involving NUMB

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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