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Aliases for NUMB Gene

Aliases for NUMB Gene

  • NUMB, Endocytic Adaptor Protein 2 3
  • Numb Homolog (Drosophila) 2 5
  • H-Numb 3 4
  • Chromosome 14 Open Reading Frame 41 2
  • Numb (Drosophila) Homolog 2
  • Numb Homolog 3
  • Protein S171 4
  • C14_5527 3
  • C14orf41 3
  • S171 3

External Ids for NUMB Gene

Previous HGNC Symbols for NUMB Gene

  • C14orf41

Previous GeneCards Identifiers for NUMB Gene

  • GC14M071246
  • GC14M067537
  • GC14M071731
  • GC14M072811
  • GC14M073741
  • GC14M053907

Summaries for NUMB Gene

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. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2016]

GeneCards Summary for NUMB Gene

NUMB (NUMB, Endocytic Adaptor Protein) is a Protein Coding gene. Diseases associated with NUMB include tactile agnosia and lip disease. Among its related pathways are Signaling by GPCR and Developmental Biology. GO annotations related to this gene include beta-catenin binding and alpha-catenin binding. An important paralog of this gene is GULP1.

UniProtKB/Swiss-Prot for NUMB Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NUMB Gene

Genomics for NUMB Gene

Regulatory Elements for NUMB Gene

Promoters for NUMB Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around NUMB on UCSC Golden Path with GeneCards custom track

Genomic Location for NUMB Gene

Chromosome:
14
Start:
73,275,107 bp from pter
End:
73,463,642 bp from pter
Size:
188,536 bases
Orientation:
Minus strand

Genomic View for NUMB Gene

Genes around NUMB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NUMB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NUMB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NUMB Gene

Proteins for NUMB Gene

  • Protein details for NUMB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P49757-NUMB_HUMAN
    Recommended name:
    Protein numb homolog
    Protein Accession:
    P49757
    Secondary Accessions:
    • B1P2N5
    • B1P2N6
    • B1P2N7
    • B1P2N8
    • B1P2N9
    • B4E2B1
    • Q6NUQ7
    • Q86SY1
    • Q8WW73
    • Q9UBG1
    • Q9UEQ4
    • Q9UKE8
    • Q9UKE9
    • Q9UKF0
    • Q9UQJ4

    Protein attributes for NUMB Gene

    Size:
    651 amino acids
    Molecular mass:
    70804 Da
    Quaternary structure:
    • 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.
    SequenceCaution:
    • Sequence=AAH20788.1; Type=Miscellaneous discrepancy; Note=Intron retention.; Evidence={ECO:0000305};

    Alternative splice isoforms for NUMB Gene

neXtProt entry for NUMB Gene

Proteomics data for NUMB Gene at MOPED

Post-translational modifications for NUMB Gene

  • 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 degradation.
  • Phosphorylated on Ser-276 and Ser-295 by CaMK1.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for NUMB (NUMB)

No data available for DME Specific Peptides for NUMB Gene

Domains & Families for NUMB Gene

Graphical View of Domain Structure for InterPro Entry

P49757

UniProtKB/Swiss-Prot:

NUMB_HUMAN :
  • Contains 1 PID domain.
Domain:
  • Contains 1 PID domain.
genes like me logo Genes that share domains with NUMB: view

No data available for Gene Families for NUMB Gene

Function for NUMB Gene

Molecular function for NUMB Gene

GENATLAS Biochemistry:
Drosophila numb homolog,signal transducer Eps15 of yeast,nematode homolog
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for NUMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0045294 alpha-catenin binding IEA --
genes like me logo Genes that share ontologies with NUMB: view
genes like me logo Genes that share phenotypes with NUMB: view

Animal Models for NUMB Gene

MGI Knock Outs for NUMB:

Animal Model Products

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for NUMB Gene

Localization for NUMB Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUMB Gene

Membrane; Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NUMB Gene COMPARTMENTS Subcellular localization image for NUMB gene
Compartment Confidence
plasma membrane 5
nucleus 4
cytosol 3
endosome 3
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for NUMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005769 early endosome IEA --
GO:0005887 integral component of plasma membrane TAS --
genes like me logo Genes that share ontologies with NUMB: view

Pathways & Interactions for NUMB Gene

genes like me logo Genes that share pathways with NUMB: view

Pathways by source for NUMB Gene

SIGNOR curated interactions for NUMB Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:
Other effect:

Gene Ontology (GO) - Biological Process for NUMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007219 Notch signaling pathway TAS --
GO:0007409 axonogenesis IEA --
GO:0007411 axon guidance TAS --
GO:0030900 forebrain development IEA --
GO:0034332 adherens junction organization IEA --
genes like me logo Genes that share ontologies with NUMB: view

Drugs & Compounds for NUMB Gene

No Compound Related Data Available

Transcripts for NUMB Gene

Alternative Splicing Database (ASD) splice patterns (SP) for NUMB Gene

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: - - - - - - - -
SP6: - - - - - - - - -
SP7: - - - - - - - - - -
SP8: - - - - - - -
SP9: - - - - - - - -
SP10: - - - -
SP11: - -
SP12:
SP13: -
SP14: -
SP15: -
SP16:

ExUns: 14a · 14b · 14c · 14d ^ 15a · 15b ^ 16 ^ 17a · 17b · 17c · 17d
SP1: -
SP2: - -
SP3: -
SP4: - -
SP5: - -
SP6:
SP7:
SP8: - - - - - -
SP9:
SP10: -
SP11:
SP12:
SP13: - - - - - - -
SP14:
SP15:
SP16:

Relevant External Links for NUMB Gene

GeneLoc Exon Structure for
NUMB
ECgene alternative splicing isoforms for
NUMB

Expression for NUMB Gene

mRNA expression in normal human tissues for NUMB Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NUMB Gene

This gene is overexpressed in Whole Blood (x6.1).

Protein differential expression in normal tissues from HIPED for NUMB Gene

This gene is overexpressed in Monocytes (13.7), Peripheral blood mononuclear cells (12.4), and Lung (6.3).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for NUMB Gene



SOURCE GeneReport for Unigene cluster for NUMB Gene Hs.525443

genes like me logo Genes that share expression patterns with NUMB: view

Protein tissue co-expression partners for NUMB Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for NUMB Gene

Orthologs for NUMB Gene

This gene was present in the common ancestor of animals.

Orthologs for NUMB Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia NUMB 35
  • 91.33 (n)
  • 94.09 (a)
NUMB 36
  • 92 (a)
OneToOne
dog
(Canis familiaris)
Mammalia NUMB 35
  • 93.55 (n)
  • 95.85 (a)
NUMB 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Numb 35
  • 89.55 (n)
  • 93.7 (a)
Numb 16
Numb 36
  • 93 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia NUMB 35
  • 97.5 (n)
  • 96.87 (a)
NUMB 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Numb 35
  • 89 (n)
  • 93.06 (a)
oppossum
(Monodelphis domestica)
Mammalia NUMB 36
  • 90 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 17 (a)
ManyToMany
chicken
(Gallus gallus)
Aves NUMB 35
  • 77.41 (n)
  • 83.36 (a)
NUMB 36
  • 84 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia NUMB 36
  • 82 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia numb 35
  • 68.45 (n)
  • 70.98 (a)
zebrafish
(Danio rerio)
Actinopterygii numb 35
  • 65.28 (n)
  • 68.9 (a)
numb 36
  • 63 (a)
ManyToMany
fruit fly
(Drosophila melanogaster)
Insecta numb 37
  • 56 (a)
numb 36
  • 40 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea num-1 36
  • 27 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.4612 35
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9113 36
  • 50 (a)
OneToMany
Species with no ortholog for NUMB:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for NUMB Gene

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

Paralogs for NUMB Gene

Paralogs for NUMB Gene

(1) SIMAP similar genes for NUMB Gene using alignment to 6 proteins:

genes like me logo Genes that share paralogs with NUMB: view

Variants for NUMB Gene

Sequence variations from dbSNP and Humsavar for NUMB Gene

SNP ID Clin Chr 14 pos Sequence Context AA Info Type
rs17182272 - 73,279,362(+) TGCTA(C/T)GGGTG intron-variant, reference, missense
rs17781919 - 73,276,750(+) ACCTG(C/T)CATCA reference, missense
rs7202 -- 73,275,573(-) TAATC(C/T)TTTAA utr-variant-3-prime
rs177368 -- 73,294,539(-) agact(A/G)tctca intron-variant
rs177369 -- 73,293,734(-) agaga(C/T)agaaa intron-variant

Structural Variations from Database of Genomic Variants (DGV) for NUMB Gene

Variant ID Type Subtype PubMed ID
nsv902085 CNV Gain 21882294
nsv513411 CNV Insertion 21212237
esv2651254 CNV Insertion 19546169
nsv513412 CNV Insertion 21212237
dgv1958n71 CNV Gain 21882294
esv1057343 CNV Insertion 17803354
nsv826974 CNV Gain 20364138
esv2671759 CNV Deletion 23128226
esv2659371 CNV Deletion 23128226

Variation tolerance for NUMB Gene

Residual Variation Intolerance Score: 7.23% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.47; 43.35% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NUMB Gene

HapMap Linkage Disequilibrium report
NUMB
Human Gene Mutation Database (HGMD)
NUMB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NUMB Gene

Disorders for NUMB Gene

MalaCards: The human disease database

(2) MalaCards diseases for NUMB Gene - From: DISEASES

Disorder Aliases PubMed IDs
tactile agnosia
lip disease
  • disease of lips
- elite association - COSMIC cancer census association via MalaCards
Search NUMB in MalaCards View complete list of genes associated with diseases

Relevant External Links for NUMB

Genetic Association Database (GAD)
NUMB
Human Genome Epidemiology (HuGE) Navigator
NUMB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NUMB
genes like me logo Genes that share disorders with NUMB: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NUMB Gene

Publications for NUMB Gene

  1. Numb is an endocytic protein. (PMID: 11121447) Santolini E. … Di Fiore P.P. (J. Cell Biol. 2000) 2 3 23 67
  2. Impaired expression of Notch signaling genes in aged human skeletal muscle. (PMID: 17301032) Carey K.A. … Cameron-Smith D. (J. Gerontol. A Biol. Sci. Med. Sci. 2007) 3 23
  3. Distinct functions of human numb isoforms revealed by misexpression in the neural stem cell lineage in the Drosophila larval brain. (PMID: 16508311) Toriya M. … Okano H. (Dev. Neurosci. 2006) 3 23
  4. Characterization of human LNX, a novel ligand of Numb protein X that is downregulated in human gliomas. (PMID: 16002321) Chen J. … Lu Y. (Int. J. Biochem. Cell Biol. 2005) 3 23
  5. Loss of negative regulation by Numb over Notch is relevant to human breast carcinogenesis. (PMID: 15492044) Pece S. … Di Fiore P.P. (J. Cell Biol. 2004) 3 23

Products for NUMB Gene

Sources for NUMB Gene

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