Gene Gene information from NCBI Gene database.
Entrez ID 8650
Gene name NUMB endocytic adaptor protein
Gene symbol NUMB
Synonyms (NCBI Gene)
C14orf41S171c14_5527
Chromosome 14
Chromosome location 14q24.2-q24.3
Summary 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 w
miRNA miRNA information provided by mirtarbase database.
425
miRTarBase ID miRNA Experiments Reference
MIRT004970 hsa-miR-31-5p Luciferase reporter assayqRT-PCR 19524507
MIRT019211 hsa-miR-335-5p Microarray 18185580
MIRT020047 hsa-miR-375 Microarray 20215506
MIRT020360 hsa-miR-29c-3p Sequencing 20371350
MIRT027189 hsa-miR-103a-3p Sequencing 20371350
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
38
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 16273093, 17203073, 18172499, 23211419, 24336247, 24561623, 32814053, 35044719, 35384245, 37219487
GO:0005737 Component Cytoplasm IBA
GO:0005768 Component Endosome IEA
GO:0005769 Component Early endosome IEA
GO:0005886 Component Plasma membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603728 8060 ENSG00000133961
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P49757
Protein name Protein numb homolog (h-Numb) (Protein S171)
Protein function Regulates clathrin-mediated receptor endocytosis (PubMed:18657069). Plays a role in the process of neurogenesis (By similarity). Required throughout embryonic neurogenesis to maintain neural progenitor cells, also called radial glial cells (RGCs
PDB 5NJJ , 5NJK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00640 PID 39 172 Phosphotyrosine interaction domain (PTB/PID) Domain
PF06311 NumbF 258 338 NUMB domain Family
Sequence
MNKLRQSFRRKKDVYVPEASRPHQWQTDEEGVRTGKCSFPVKYLGHVEVDESRGMHICED
AVKRLKAERKFFKGFFGKTGKKAVKAVLWVSADGLRVVDEKTKDLIVDQTIEKVSFCAPD
RNFDRAFSYICRDGTTRRWICHCFMAVKDTGERLSHAVGCAFAACLERKQKR
EKECGVTA
TFDASRTTFTREGSFRVTTATEQAEREEIMKQMQDAKKAETDKIVVGSSVAPGNTAPSPS
SPTSPTSDATTSLEMNNPHAIPRRHAPIEQLARQGSFRGFPALSQKMSPFKRQLSLRINE
LPSTMQRKTDFPIKNAVPEVEGEAESISSLCSQITNAF
STPEDPFSSAPMTKPVTVVAPQ
SPTFQANGTDSAFHVLAKPAHTALAPVAMPVRETNPWAHAPDAANKEIAATCSGTEWGQS
SGAASPGLFQAGHRRTPSEADRWLEEVSKSVRAQQPQASAAPLQPVLQPPPPTAISQPAS
PFQGNAFLTSQPVPVGVVPALQPAFVPAQSYPVANGMPYPAPNVPVVGITPSQMVANVFG
TAGHPQAAHPHQSPSLVRQQTFPHYEASSATTSPFFKPPAQHLNGSAAFNGVDDGRLASA
DRHTEVPTGTCPVDPFEAQWAALENKSKQRTNPSPTNPFSSDLQKTFEIEL
Sequence length 651
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Notch signaling pathway   Recycling pathway of L1
Degradation of GLI1 by the proteasome
Hedgehog 'on' state
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
4
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
BIPOLAR DISORDER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
HYPERTENSION GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
KIDNEY CANCER GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCOLIOSIS GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Adenomyosis Associate 26307032
★☆☆☆☆
Found in Text Mining only
Aneuploidy Associate 22593191
★☆☆☆☆
Found in Text Mining only
Brain Neoplasms Associate 33120728
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Associate 15492044, 23140583, 23706821, 29269425, 29339436, 29747452, 32501652, 36200956
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Inhibit 35478938
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Associate 15492044, 25480416, 26860615, 27449031
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Inhibit 21041478
★☆☆☆☆
Found in Text Mining only
Carcinoma Adenoid Cystic Inhibit 18179751
★☆☆☆☆
Found in Text Mining only
Carcinoma Hepatocellular Associate 24770339, 26058814, 26165304
★☆☆☆☆
Found in Text Mining only
Carcinoma Mucoepidermoid Inhibit 18179751
★☆☆☆☆
Found in Text Mining only