NUMB Gene (Protein Coding)

NUMB Endocytic Adaptor Protein

GC14M073275
GIFtS:
48
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] See more...

Aliases for NUMB Gene

Aliases for NUMB Gene

  • NUMB Endocytic Adaptor Protein 2 3 5
  • Protein Numb Homolog 3 4
  • C14orf41 3 4
  • H-Numb 3 4
  • Chromosome 14 Open Reading Frame 41 2
  • Numb (Drosophila) Homolog 2
  • Numb Homolog (Drosophila) 2
  • Numb Homolog 3
  • Protein S171 4
  • C14_5527 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 Melanoma, Uveal and Maxillary Sinus Adenoid Cystic Carcinoma. Among its related pathways are ERK Signaling and Endocytic Trafficking of EGFR. Gene Ontology (GO) annotations related to this gene include beta-catenin binding and alpha-catenin binding. An important paralog of this gene is NUMBL.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for NUMB Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NUMB Gene

Genomics for NUMB Gene

GeneHancer (GH) Regulatory Elements for NUMB Gene

Promoters and enhancers for NUMB Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUMB on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NUMB

Top Transcription factor binding sites by QIAGEN in the NUMB gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alphaA

Genomic Locations for NUMB Gene

Genomic Locations for NUMB Gene
chr14:73,275,107-73,458,617
(GRCh38/hg38)
Size:
183,511 bases
Orientation:
Minus strand
chr14:73,741,815-73,930,348
(GRCh37/hg19)
Size:
188,534 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 Structure • Gene Density

RefSeq DNA sequence for NUMB Gene

Proteins for NUMB Gene

Products:

  1. Antibody
  2. Protein
  3. Assay

  • 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};

    Three dimensional structures from OCA and Proteopedia for NUMB Gene

    Alternative splice isoforms for NUMB Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NUMB Gene

Protein Expression for NUMB Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NUMB Gene

  • Phosphorylated on Ser-276 and Ser-295 by CaMK1.
  • 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.
  • Ubiquitination at Lys286
  • Modification sites at PhosphoSitePlus

Other Protein References for NUMB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for NUMB

No data available for DME Specific Peptides for NUMB Gene

Domains & Families for NUMB Gene

Gene Families for NUMB Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins

Protein Domains for NUMB Gene

Blocks:
  • Phosphotyrosine interaction domain
  • NUMB phenylalanine-rich
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for NUMB Gene

GenScript: Design optimal peptide antigens:
  • Numb isoform 6 (B1P2N6_HUMAN)
  • Numb isoform 8 (B1P2N8_HUMAN)
  • cDNA FLJ53981, highly similar to Homo sapiens numb homolog (NUMB), transcript variant 4, mRNA (B1P2N9_HUMAN)
  • Protein S171 (NUMB_HUMAN)
genes like me logo Genes that share domains with NUMB: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for NUMB Gene

Function for NUMB Gene

Products:

  1. Animal Model
  2. CRISPR
  3. miRNA
  4. Inhibitory RNA
  5. Clone
  6. Cell Line

Molecular function for NUMB Gene

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.
GENATLAS Biochemistry:
Drosophila numb homolog,signal transducer Eps15 of yeast,nematode homolog

Phenotypes From GWAS Catalog for NUMB Gene

Gene Ontology (GO) - Molecular Function for NUMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 18172499
GO:0008013 beta-catenin binding IEA --
GO:0045294 alpha-catenin binding IEA --
GO:0045296 cadherin binding IBA 21873635
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:
  • Numb Numb<tm1.1Zili>
  • Numb Numb<tm1.1Ynj>

Animal Model Products

Clone Products

  • Addgene plasmids for NUMB

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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NUMB gene
Compartment Confidence
plasma membrane 4
nucleus 4
cytosol 4
endosome 3
extracellular 2
cytoskeleton 2
lysosome 2
golgi apparatus 2
mitochondrion 1
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cell Junctions (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NUMB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005737 cytoplasm IBA 21873635
GO:0005769 early endosome IEA --
GO:0005886 plasma membrane TAS --
GO:0005925 focal adhesion HDA 21423176
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

1 KEGG pathway for NUMB Gene
1 R&D Systems pathway for NUMB Gene
1 Qiagen pathway for NUMB Gene
  • Molecular Mechanisms of Cancer
2 Cell Signaling Technology pathways for NUMB Gene
1 GeneTex pathway 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:0007275 multicellular organism development IEA --
GO:0007399 nervous system development IEA --
GO:0007405 neuroblast proliferation IEA --
GO:0007409 axonogenesis IEA --
GO:0021670 lateral ventricle development ISS --
genes like me logo Genes that share ontologies with NUMB: view

Drugs & Compounds for NUMB Gene

Products:

  1. Drug
No Compound Related Data Available

Transcripts for NUMB Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for NUMB Gene

5 REFSEQ mRNAs :
27 NCBI additional mRNA sequence :
28 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Clone Products

  • Addgene plasmids for NUMB

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

Expression for NUMB Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NUMB Gene

mRNA expression in normal human tissues for NUMB Gene
mRNA expression by BioGPS for NUMB GenemRNA expression by GTEx 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, MaxQB, and MOPED for NUMB Gene



Protein tissue co-expression partners for NUMB Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NUMB

SOURCE GeneReport for Unigene cluster for NUMB Gene:

Hs.525443

Evidence on tissue expression from TISSUES for NUMB Gene

  • Nervous system(4.9)
  • Liver(4.4)
  • Lung(2.8)
  • Intestine(2.2)
  • Kidney(2.1)
  • Muscle(2.1)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with NUMB: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
 Mammalia NUMB 31 30
  • 97.5 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia NUMB 31 30
  • 93.55 (n)
 OneToOne
cow
(Bos Taurus)
 Mammalia NUMB 31 30
  • 91.33 (n)
 OneToOne
oppossum
(Monodelphis domestica)
 Mammalia NUMB 31
  • 90 (a)
 OneToOne
mouse
(Mus musculus)
 Mammalia Numb 17 31 30
  • 89.55 (n)
rat
(Rattus norvegicus)
 Mammalia Numb 30
  • 89 (n)
platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 17 (a)
 ManyToMany
chicken
(Gallus gallus)
 Aves NUMB 31 30
  • 77.41 (n)
 OneToOne
lizard
(Anolis carolinensis)
 Reptilia NUMB 31
  • 82 (a)
 OneToOne
tropical clawed frog
(Silurana tropicalis)
 Amphibia numb 30
  • 68.45 (n)
zebrafish
(Danio rerio)
 Actinopterygii numb 31 30
  • 65.28 (n)
 ManyToMany
fruit fly
(Drosophila melanogaster)
 Insecta numb 31 32
  • 40 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea num-1 31
  • 27 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea CSA.9113 31
  • 50 (a)
 OneToMany
Cin.4612 30
sea squirt
(Ciona intestinalis)
 Ascidiacea Cin.4612 30
Species where no ortholog for NUMB was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NUMB: view image

Paralogs for NUMB Gene

Paralogs for NUMB Gene

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

  • NUMB_HUMAN
  • G3V3M5_HUMAN
  • G3V3R1_HUMAN
  • G3V3Z8_HUMAN
  • G3V433_HUMAN
  • G3V4S6_HUMAN
genes like me logo Genes that share paralogs with NUMB: view

Variants for NUMB Gene

Products:

  1. SNP Genotyping and Copy Number Assay

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NUMB Gene

SNP ID Clinical significance and condition Chr 14 pos Variation AA Info Type
768662 Benign: not provided 73,282,366(-) G/A SYNONYMOUS_VARIANT
768663 Benign: not provided 73,292,839(-) A/G SYNONYMOUS_VARIANT
769401 Benign: not provided 73,276,659(-) A/G SYNONYMOUS_VARIANT
rs17182272 - p.Val387Ile
rs17781919 - p.Gly595Asp

Additional dbSNP identifiers (rs#s) for NUMB Gene

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

Variant ID Type Subtype PubMed ID
dgv1933n100 CNV gain 25217958
dgv1934n100 CNV loss 25217958
esv1057343 CNV insertion 17803354
esv2651254 CNV insertion 19546169
esv2659371 CNV deletion 23128226
esv2671759 CNV deletion 23128226
esv3551763 CNV deletion 23714750
esv3634902 CNV gain 21293372
esv3634903 CNV loss 21293372
esv3634905 CNV gain 21293372
esv3634906 CNV loss 21293372
esv3634907 CNV loss 21293372
esv3892561 CNV gain 25118596
nsv1035460 CNV gain 25217958
nsv1042100 CNV loss 25217958
nsv1113660 CNV deletion 24896259
nsv1125358 OTHER inversion 24896259
nsv477096 CNV novel sequence insertion 20440878
nsv513411 CNV insertion 21212237
nsv513412 CNV insertion 21212237
nsv826974 CNV gain 20364138

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)

Additional Variant Information for NUMB Gene

Human Gene Mutation Database (HGMD)
NUMB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NUMB

SNP Genotyping and Copy Number Assay Products

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

Disorders for NUMB Gene

MalaCards: The human disease database

(7) MalaCards diseases for NUMB Gene - From: LncRNADisease and DISEASES

Disorder Aliases PubMed IDs
melanoma, uveal
  • uveal melanoma
maxillary sinus adenoid cystic carcinoma
  • adenoid cystic carcinoma of maxillary sinus
tactile agnosia
retinitis pigmentosa 42
  • rp42
pericoronitis
- elite association - COSMIC cancer census association via MalaCards
Search NUMB in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NUMB

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 PP (The Journal of cell biology 2000) 2 3 23 54
  2. Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module. (PMID: 9303539) Salcini AE … Di Fiore PP (Genes & development 1997) 3 4 23 54
  3. Characterization and role of NUMB in the human extravillous trophopblast. (PMID: 21486681) Haider M … Gruslin A (Placenta 2011) 3 4 54
  4. Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study. (PMID: 17903303) O'Donnell CJ … Demissie S (BMC medical genetics 2007) 3 41 54
  5. Impaired expression of Notch signaling genes in aged human skeletal muscle. (PMID: 17301032) Carey KA … Cameron-Smith D (The journals of gerontology. Series A, Biological sciences and medical sciences 2007) 3 23 54

ExternalLinks

View latest publications for NUMB gene in Mastermind

Products for NUMB Gene