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This gene encodes an E3 ubiquitin-protein ligase and member of the PHR (Phr1/MYCBP2, highwire and RPM-1) family of proteins. The encoded protein plays a role in axon guidance and synapse formation in the developing nervous system. In mammalian cells, this protein regulates the cAMP and mTOR signaling pathways, and may additionally regulate autophagy. Reduced expression of this gene has been observed in acute lymphoblastic leukemia patients and a mutation in this gene has been identified in patients with a rare inherited vision defect. [provided by RefSeq, Mar 2017]
MYCBP2 (MYC Binding Protein 2) is a Protein Coding gene. Diseases associated with MYCBP2 include Reticulate Acropigmentation Of Kitamura and Pelizaeus-Merzbacher Disease. Among its related pathways are Integrated Breast Cancer Pathway. Gene Ontology (GO) annotations related to this gene include protein homodimerization activity and ligase activity. An important paralog of this gene is FBXO24.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005085 | guanyl-nucleotide exchange factor activity | IEA,IDA | 26304119 |
GO:0005515 | protein binding | IPI | 15161933 |
GO:0008270 | zinc ion binding | IDA | 29643511 |
GO:0008536 | Ran GTPase binding | IDA | 26304119 |
GO:0016740 | transferase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005634 | nucleus | IBA,IDA | 26304119 |
GO:0005654 | nucleoplasm | IDA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005856 | cytoskeleton | IEA | -- |
GO:0015630 | microtubule cytoskeleton | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Integrated Breast Cancer Pathway |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0008045 | motor neuron axon guidance | IEA | -- |
GO:0016567 | protein ubiquitination | IMP | 27278822 |
GO:0021785 | branchiomotor neuron axon guidance | IEA | -- |
GO:0021952 | central nervous system projection neuron axonogenesis | IEA,ISS | -- |
GO:0031398 | positive regulation of protein ubiquitination | IEA,IDA | 20534529 |
Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
---|---|---|---|---|---|---|
Phosphoric acid | Approved | Pharma | 0 | |||
Adenosine monophosphate | Approved, Investigational | Nutra | 0 | |||
ATP | Investigational | Nutra | Agonist, Activator, Partial agonist, Antagonist, Full agonist, Gating inhibitor, Pore Blocker, Potentiation | 0 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
pyrophosphate |
|
14000-31-8 |
|
ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6 | ^ | 7a | · | 7b | ^ | 8 | ^ | 9a | · | 9b | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 | ^ | 15 | ^ | 16 | ^ | 17a | · | 17b | ^ | 18 | ^ | 19 | ^ | 20 | ^ | 21 | ^ | 22 | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP2: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP3: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP5: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP6: |
ExUns: | 23 | ^ | 24 | ^ | 25 | ^ | 26 | ^ | 27 | ^ | 28 | ^ | 29 | ^ | 30 | ^ | 31a | · | 31b | ^ | 32 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||
SP2: | |||||||||||||||||||||
SP3: | |||||||||||||||||||||
SP4: | |||||||||||||||||||||
SP5: | |||||||||||||||||||||
SP6: |
This gene was present in the common ancestor of animals.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
-- 31 |
|
OneToMany | |||
Chimpanzee (Pan troglodytes) |
Mammalia | MYCBP2 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | MYCBP2 30 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | MYCBP2 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | MYCBP2 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Mycbp2 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Mycbp2 30 |
|
||
Chicken (Gallus gallus) |
Aves | MYCBP2 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | MYCBP2 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | Str.3526 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | mycbp2 30 31 |
|
OneToOne | |
Dr.17163 30 |
|
||||
Rainbow Trout (Oncorhynchus mykiss) |
Actinopterygii | Omy.12300 30 |
|
||
Fruit Fly (Drosophila melanogaster) |
Insecta | hiw 30 31 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011177 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | rpm-1 30 31 |
|
OneToMany | |
F07B7.12 31 |
|
OneToMany | |||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.4977 30 |
|
SNP ID | Clinical significance and condition | Chr 13 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
691448 | Uncertain Significance: Pyloric stenosis; Esophageal atresia | 77,206,744(-) | C/G | MISSENSE_VARIANT | |
713358 | Benign: not provided | 77,181,815(-) | C/T | SYNONYMOUS_VARIANT | |
718182 | Likely Benign: not provided | 77,055,554(-) | A/T | INTRON_VARIANT | |
721764 | Benign: not provided | 77,166,522(-) | T/G | SYNONYMOUS_VARIANT | |
722591 | Likely Benign: not provided | 77,326,774(-) | A/C | INITIATIOR_CODON_VARIANT,MISSENSE_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv1226195 | CNV | insertion | 17803354 |
esv2515250 | CNV | insertion | 19546169 |
esv2759951 | CNV | loss | 17122850 |
esv3550737 | CNV | deletion | 23714750 |
nsv1037653 | CNV | loss | 25217958 |
nsv1039620 | CNV | gain | 25217958 |
nsv1148797 | CNV | duplication | 26484159 |
nsv528143 | CNV | loss | 19592680 |
nsv832653 | CNV | loss | 17160897 |
Disorder | Aliases | PubMed IDs |
---|---|---|
reticulate acropigmentation of kitamura |
|
|
pelizaeus-merzbacher disease |
|
|
hypomyelinating leukodystrophy |
|
|
cerebral degeneration |
|
|
breast cancer |
|
|