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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]
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 Neuroscience and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include beta-catenin binding and alpha-catenin binding. An important paralog of this gene is NUMBL.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005515 | protein binding | IEA,IPI | 18172499 |
GO:0008013 | beta-catenin binding | IEA | -- |
GO:0045294 | alpha-catenin binding | IEA | -- |
GO:0045296 | cadherin binding | IBA | 21873635 |
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:0005905 | clathrin-coated pit | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Notch Signaling Pathway (WikiPathways) | ||
2 | Signaling by Hedgehog | ||
3 | Developmental Biology |
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4 | Signaling by NOTCH1 | ||
5 | Neuroscience |
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 | -- |
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: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | NUMB 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | NUMB 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | NUMB 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | NUMB 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Numb 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Numb 30 |
|
||
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
ManyToMany | |
Chicken (Gallus gallus) |
Aves | NUMB 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | NUMB 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | numb 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | numb 30 31 |
|
ManyToMany | |
Fruit Fly (Drosophila melanogaster) |
Insecta | numb 31 32 |
|
OneToMany | |
Worm (Caenorhabditis elegans) |
Secernentea | num-1 31 |
|
OneToMany | |
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.9113 31 |
|
OneToMany | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4612 30 |
|
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 |
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 |
Disorder | Aliases | PubMed IDs |
---|---|---|
melanoma, uveal |
|
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maxillary sinus adenoid cystic carcinoma |
|
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retinitis pigmentosa 42 |
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tactile agnosia |
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pericoronitis |
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