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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 (Drosophila) Homolog-Like 2
  • Numb Homolog-Like 3
  • Numb-Like Protein 3
  • NUMBLIKE 3
  • NUMB-R 3
  • TNRC23 3
  • Numb-R 4
  • 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 Nephrotic Syndrome, Type 9 and Autonomic 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

Additional gene information for NUMBL Gene

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

Genomics for NUMBL Gene

GeneHancer (GH) Regulatory Elements for NUMBL Gene

Promoters and enhancers for NUMBL Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH19J040713 Promoter/Enhancer 2.9 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 680.2 -26.7 -26673 9.2 CLOCK FEZF1 DMAP1 IRF4 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 ITPKC NUMBL COQ8B SNRPA HNRNPUL1 ENSG00000269843 CCDC97 ZNF780B FBL AKT2
GH19J040686 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 665.6 +2.1 2076 6 HDGF PKNOX1 SIN3A FEZF1 ZNF2 POLR2B ZNF766 E2F8 ZNF548 KLF13 NUMBL HNRNPUL1 ENSG00000269843 AKT2 SNRPA ZNF780B ZNF546 PSMC4 CCDC97 CYP2G1P
GH19J040796 Promoter/Enhancer 2.8 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 39.5 -110.7 -110662 11.8 CLOCK MLX ZFP64 FEZF1 DMAP1 YY1 ZNF213 ZNF416 ZNF143 SP3 EGLN2 ENSG00000268797 ZNF780B SNRPA HNRNPUL1 CCDC97 ENSG00000269843 NUMBL ZNF546 COQ8B
GH19J040596 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 39.6 +90.0 89979 10 CLOCK MLX FEZF1 DMAP1 YY1 ZNF213 E2F8 ZNF416 ZNF143 ZNF548 LTBP4 HNRNPUL1 SNRPA ENSG00000269843 ZNF780B CCDC97 ZNF780A AKT2 FBL COQ8B
GH19J040190 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE 29.6 +500.4 500437 2.3 HDGF PKNOX1 ARID4B SIN3A DMAP1 ZNF2 ZBTB7B YY1 ZNF766 ZNF213 MAP3K10 ZNF780B NUMBL SNRPA ENSG00000269843 CYP2G1P FBL PSMC4 SUPT5H EID2B
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NUMBL on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NUMBL gene promoter:
  • HNF-4alpha1
  • COUP-TF1
  • COUP-TF
  • COUP
  • p53
  • HNF-4alpha2
  • Lmo2
  • GATA-2
  • Sp1

Genomic Locations for NUMBL Gene

Genomic Locations for NUMBL Gene
chr19:40,665,905-40,691,675
(GRCh38/hg38)
Size:
25,771 bases
Orientation:
Minus strand
chr19:41,171,810-41,196,877
(GRCh37/hg19)
Size:
25,068 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

No data available for DME Specific Peptides for NUMBL Gene

Domains & Families for NUMBL Gene

Gene Families for NUMBL Gene

HGNC:
Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

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.
genes like me logo Genes that share domains with NUMBL: view

Function for NUMBL Gene

Molecular function for NUMBL 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 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:
Drosophila numb homolog-like,signal transducer Eps15-2 of yeast,nematode homolog

Phenotypes From GWAS Catalog for NUMBL Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUMBL

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
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 NUMBL gene
Compartment Confidence
nucleus 3
plasma membrane 1
extracellular 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

No data available for Subcellular locations from the Human Protein Atlas (HPA) for NUMBL Gene

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

Drugs & Compounds for NUMBL Gene

No Compound Related Data Available

Transcripts for NUMBL Gene

mRNA/cDNA for NUMBL Gene

Unigene Clusters for NUMBL Gene

Numb homolog (Drosophila)-like:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NUMBL

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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

Evidence on tissue expression from TISSUES for NUMBL Gene

  • Eye(4.4)
  • Nervous system(3.7)
  • Muscle(2.2)
  • Bone marrow(2.1)
  • Blood(2)
genes like me logo Genes that share expression patterns with NUMBL: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer 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 33
  • 99.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia NUMBL 34 33
  • 90.41 (n)
OneToOne
cow
(Bos Taurus)
Mammalia NUMBL 34 33
  • 90.4 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Numbl 16 34 33
  • 89.24 (n)
rat
(Rattus norvegicus)
Mammalia Numbl 33
  • 88.93 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia NUMBL 34
  • 70 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia NUMBL 34
  • 67 (a)
OneToOne
chicken
(Gallus gallus)
Aves -- 34
  • 16 (a)
ManyToMany
lizard
(Anolis carolinensis)
Reptilia NUMBL 34
  • 65 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia numbl 33
  • 63.14 (n)
zebrafish
(Danio rerio)
Actinopterygii numbl 34 33
  • 63.47 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta numb 34 35
  • 38 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea num-1 34
  • 27 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea CSA.9113 34
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for NUMBL: view image

Paralogs for NUMBL Gene

Paralogs for NUMBL Gene

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

  • NUMBL_HUMAN
  • A8K033_HUMAN
  • M0QXQ4_HUMAN
  • M0QYC2_HUMAN
  • M0QZV7_HUMAN
  • M0R0Q4_HUMAN
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 Variation AA Info Type
rs1057519347 pathogenic, Nephrotic syndrome, type 9 40,692,240(-) C/T upstream_transcript_variant
rs398122980 pathogenic, Nephrotic syndrome, type 9 40,692,223(-) C/A/T upstream_transcript_variant
rs398122983 pathogenic, Nephrotic syndrome, type 9 40,692,308(-) AGGGCCC/ upstream_transcript_variant
rs139130454 likely-benign, not specified 40,692,365(-) G/A upstream_transcript_variant
rs774086810 likely-benign, not specified 40,692,386(-) G/A upstream_transcript_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)

Additional Variant Information for NUMBL Gene

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

SNP Genotyping and Copy Number Assay Products

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: HGMD, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
nephrotic syndrome, type 9
  • nphs9
autonomic nervous system neoplasm
  • tumor of autonomic nervous system
peripheral nervous system neoplasm
  • neoplasm of peripheral nerve
trichinosis
  • trichinella spiralis infection
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

Additional Disease Information for NUMBL

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 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 AE … Di Fiore PP (Genes & development 1997) 2 3 4 58
  2. NUMBL interacts with TRAF6 and promotes the degradation of TRAF6. (PMID: 20079715) Zhou L … Huo K (Biochemical and biophysical research communications 2010) 3 4 58
  3. Mutation and copy number analysis of LNX1 and Numbl in nervous system tumors. (PMID: 18940473) Blom T … Nupponen NN (Cancer genetics and cytogenetics 2008) 3 44 58
  4. NUMBL interacts with TAB2 and inhibits TNFalpha and IL-1beta-induced NF-kappaB activation. (PMID: 18299187) Ma Q … Huo K (Cellular signalling 2008) 3 4 58
  5. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PMID: 17081983) Olsen JV … Mann M (Cell 2006) 3 4 58

Products for NUMBL Gene

Sources for NUMBL Gene

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