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Aliases for NUMBL Gene

Aliases for NUMBL Gene

  • NUMB Like, Endocytic Adaptor Protein 2 3 5
  • Numb-Related Protein 3 4
  • NUMB-R 3 4
  • Numb (Drosophila) Homolog-Like 2
  • Numb Homolog-Like 3
  • Numb-Like Protein 3
  • NUMBLIKE 3
  • TNRC23 3
  • CAG3A 3
  • CTG3a 3
  • NUMBR 3
  • NBL 3

External Ids for NUMBL Gene

Previous GeneCards Identifiers for NUMBL Gene

  • GC19M041812
  • GC19M041564
  • GC19M045848
  • GC19M045864
  • GC19M045859
  • GC19M041171
  • GC19M037605

Summaries for NUMBL Gene

GeneCards Summary for NUMBL Gene

NUMBL (NUMB Like, Endocytic Adaptor Protein) is a Protein Coding gene. Diseases associated with NUMBL include Autonomic Nervous System Neoplasm and Peripheral Nervous System Neoplasm. Among its related pathways are Notch signaling pathway (KEGG). An important paralog of this gene is NUMB.

UniProtKB/Swiss-Prot for NUMBL 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 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

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

Genomics for NUMBL Gene

Regulatory Elements for NUMBL Gene

Enhancers for NUMBL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH19F040596 1.3 FANTOM5 ENCODE 29.4 +90.0 89980 10.0 CREB3L1 MLX FEZF1 DMAP1 ZNF416 ZNF143 ZNF548 ZNF263 SP3 NFYC ENSG00000205041 ENSG00000269843 ENSG00000269069 NUMBL SHKBP1 SNRPA CYP2G2P ENSG00000271299 LGALS14 LOC100129935
GH19F040662 0.9 Ensembl ENCODE 23 +27.9 27929 2.8 HDGF PKNOX1 CREB3L1 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SNRPA FBL CCDC97 ITPKC NUMBL ENSG00000269843 ENSG00000269069 RAB4B C19orf54 RNU6-195P
GH19F040796 1 FANTOM5 Ensembl ENCODE 19.6 -110.7 -110663 11.8 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YBX1 YY1 ZNF416 ZNF143 ZNF548 SNRPA ENSG00000269843 ENSG00000205041 ENSG00000269069 FBL ITPKC CCDC97 COQ8B NUMBL ENSG00000268366
GH19F040686 0.2 ENCODE 15.6 +2.1 2077 6.0 HDGF PKNOX1 CREB3L1 ZFP64 SIN3A FEZF1 ZNF2 ZNF548 KLF13 ZNF263 ENSG00000269843 NUMBL ENSG00000205041 SNRPA ENSG00000269069 COQ8B C19orf54 ITPKC PIR47829
GH19F040606 1.2 Ensembl ENCODE 11.8 +84.1 84086 1.6 ELF3 CBX3 MLX KLF17 ZSCAN9 DNMT3B RARA ZNF121 SCRT2 ZNF416 ENSG00000205041 NUMBL GC19M040606 ENSG00000279183
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around NUMBL on UCSC Golden Path with GeneCards custom track

Promoters for NUMBL Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001419204 1575 2201 HDGF PKNOX1 CREB3L1 SIN3A FEZF1 ZNF2 KLF13 ZNF263 SP3 SMARCB1

Genomic Location for NUMBL Gene

Chromosome:
19
Start:
40,665,905 bp from pter
End:
40,691,675 bp from pter
Size:
25,771 bases
Orientation:
Minus strand

Genomic View for NUMBL Gene

Genes around NUMBL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NUMBL Gene

Proteins for NUMBL Gene

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

    Protein Symbol:
    Q9Y6R0-NUMBL_HUMAN
    Recommended name:
    Numb-like protein
    Protein Accession:
    Q9Y6R0
    Secondary Accessions:
    • Q7Z4J9

    Protein attributes for NUMBL Gene

    Size:
    609 amino acids
    Molecular mass:
    64891 Da
    Quaternary structure:
    • Interacts (via PTB domain) with MAP3K7IP2 (via C-terminal). Interacts (via C-terminal) with TRAF6 (via TRAF domains). Associates with EPS15 and NOTCH1.

    Three dimensional structures from OCA and Proteopedia for NUMBL Gene

neXtProt entry for NUMBL Gene

Post-translational modifications for NUMBL Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Antibody Products

No data available for DME Specific Peptides for NUMBL Gene

Domains & Families for NUMBL Gene

Gene Families for NUMBL Gene

Graphical View of Domain Structure for InterPro Entry

Q9Y6R0

UniProtKB/Swiss-Prot:

NUMBL_HUMAN :
  • The PTB domain is necessary for the inhibition of MAP3K7IP2-mediated activation of NF-kappa-B.
Domain:
  • The PTB domain is necessary for the inhibition of MAP3K7IP2-mediated activation of NF-kappa-B.
  • Contains 1 PID domain.
genes like me logo Genes that share domains with NUMBL: view

Function for NUMBL Gene

Molecular function for NUMBL Gene

GENATLAS Biochemistry:
Drosophila numb homolog-like,signal transducer Eps15-2 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 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 Ontology (GO) - Molecular Function for NUMBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16713569
genes like me logo Genes that share ontologies with NUMBL: view
genes like me logo Genes that share phenotypes with NUMBL: view

Animal Models for NUMBL Gene

MGI Knock Outs for NUMBL:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for NUMBL Gene

Subcellular locations from UniProtKB/Swiss-Prot for NUMBL Gene

Cytoplasm. Note=Symmetrically distributed throughout the cytoplasm in non dividing neuroblasts of the CNS. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for NUMBL Gene COMPARTMENTS Subcellular localization image for NUMBL gene
Compartment Confidence
nucleus 3
cytoskeleton 1
extracellular 1
plasma membrane 1

Gene Ontology (GO) - Cellular Components for NUMBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
genes like me logo Genes that share ontologies with NUMBL: view

Pathways & Interactions for NUMBL Gene

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

Pathways by source for NUMBL Gene

2 BioSystems pathways for NUMBL Gene
1 KEGG pathway for NUMBL Gene

Gene Ontology (GO) - Biological Process for NUMBL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007275 multicellular organism development IEA --
GO:0007399 nervous system development TAS 9303539
GO:0007405 neuroblast proliferation IEA --
GO:0007409 axonogenesis IEA --
GO:0019221 cytokine-mediated signaling pathway IDA 18299187
genes like me logo Genes that share ontologies with NUMBL: view

No data available for SIGNOR curated interactions for NUMBL Gene

Transcripts for NUMBL Gene

Unigene Clusters for NUMBL Gene

Numb homolog (Drosophila)-like:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

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

Relevant External Links for NUMBL Gene

GeneLoc Exon Structure for
NUMBL
ECgene alternative splicing isoforms for
NUMBL

Expression for NUMBL Gene

mRNA expression in normal human tissues for NUMBL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NUMBL Gene

This gene is overexpressed in Brain (25.2), Bone (12.6), Fetal Brain (8.8), and Frontal cortex (6.1).

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



NURSA nuclear receptor signaling pathways regulating expression of NUMBL Gene:

NUMBL

SOURCE GeneReport for Unigene cluster for NUMBL Gene:

Hs.326953
genes like me logo Genes that share expression patterns with NUMBL: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NUMBL Gene

Orthologs for NUMBL Gene

This gene was present in the common ancestor of animals.

Orthologs for NUMBL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NUMBL 34 35
  • 99.36 (n)
dog
(Canis familiaris)
Mammalia NUMBL 34 35
  • 90.41 (n)
cow
(Bos Taurus)
Mammalia NUMBL 34 35
  • 90.4 (n)
mouse
(Mus musculus)
Mammalia Numbl 34 16 35
  • 89.24 (n)
rat
(Rattus norvegicus)
Mammalia Numbl 34
  • 88.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUMBL 35
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NUMBL 35
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 35
  • 16 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia NUMBL 35
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia numbl 34
  • 63.14 (n)
zebrafish
(Danio rerio)
Actinopterygii numbl 34 35
  • 63.47 (n)
fruit fly
(Drosophila melanogaster)
Insecta numb 36 35
  • 56 (a)
worm
(Caenorhabditis elegans)
Secernentea num-1 35
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9113 35
  • 44 (a)
OneToMany
Species where no ortholog for NUMBL 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 NUMBL Gene

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

Paralogs for NUMBL Gene

Paralogs for NUMBL Gene

(2) SIMAP similar genes for NUMBL Gene using alignment to 6 proteins:

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

Variants for NUMBL Gene

Sequence variations from dbSNP and Humsavar for NUMBL Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs398122980 Pathogenic 40,692,223(-) CACCC(A/G/T)AGGAG upstream-variant-2KB, reference, missense, stop-gained
rs398122983 Pathogenic 40,692,308(-) ACCCA(-/GGGCCCT)TATGA upstream-variant-2KB, reference, frameshift-variant
rs10401344 -- 40,686,512(+) GCGAG(C/T)GTCTG intron-variant
rs10402624 -- 40,686,405(+) GATCC(G/T)CCCGC intron-variant
rs10403730 -- 40,681,679(+) TATAT(A/G)TAttt intron-variant

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

Variant ID Type Subtype PubMed ID
dgv1782n106 CNV duplication 24896259
esv3391681 CNV duplication 20981092
esv3432319 CNV duplication 20981092
nsv1058707 CNV gain 25217958
nsv1067017 CNV gain 25217958
nsv1146477 CNV duplication 26484159
nsv2489 CNV deletion 18451855
nsv820299 CNV loss 19587683
nsv953576 CNV deletion 24416366

Variation tolerance for NUMBL Gene

Gene Damage Index Score: 4.13; 61.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for NUMBL Gene

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

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

Disorders for NUMBL Gene

MalaCards: The human disease database

(5) MalaCards diseases for NUMBL Gene - From: DISEASES

Disorder Aliases PubMed IDs
autonomic nervous system neoplasm
  • tumor of autonomic nervous system
peripheral nervous system neoplasm
  • neoplasm of peripheral nerve
trichinosis
  • trichinella spiralis infection
neurofibrosarcoma
  • neurosarcoma [obs]
nervous system cancer
  • malignant neoplasm of nervous system
- elite association - COSMIC cancer census association via MalaCards
Search NUMBL in MalaCards View complete list of genes associated with diseases

Relevant External Links for NUMBL

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

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

Publications for NUMBL Gene

  1. Binding specificity and in vivo targets of the EH domain, a novel protein-protein interaction module. (PMID: 9303539) Salcini A.E. … Di Fiore P.P. (Genes Dev. 1997) 2 3 4 64
  2. NUMBL interacts with TRAF6 and promotes the degradation of TRAF6. (PMID: 20079715) Zhou L. … Huo K. (Biochem. Biophys. Res. Commun. 2010) 3 4 64
  3. NUMBL interacts with TAB2 and inhibits TNFalpha and IL-1beta-induced NF-kappaB activation. (PMID: 18299187) Ma Q. … Huo K. (Cell. Signal. 2008) 3 4 64
  4. Mutation and copy number analysis of LNX1 and Numbl in nervous system tumors. (PMID: 18940473) Blom T. … Nupponen N.N. (Cancer Genet. Cytogenet. 2008) 3 46 64
  5. Analysis of coding-polymorphisms in NOTCH-related genes reveals NUMBL poly-glutamine repeat to be associated with schizophrenia in Brazilian and Danish subjects. (PMID: 16899352) Passos Gregorio S. … Dias-Neto E. (Schizophr. Res. 2006) 3 46 64

Products for NUMBL Gene

Sources for NUMBL Gene

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