Tbio MAGEL2 MAGE-like protein 2

Protein Summary

Description

Probably enhances ubiquitin ligase activity of RING-type zinc finger-containing E3 ubiquitin-protein ligases, possibly through recruitment and/or stabilization of the Ubl-conjugating enzyme (E2) at the E3:substrate complex. Acts as a regulator of retrograde transport via its interaction with VPS35. Recruited to retromer-containing endosomes and promotes the formation of 'Lys-63'-linked polyubiquitin chains at 'Lys-220' of WASHC1 together with TRIM27, leading to promote endosomal F-actin assembly (PubMed:23452853). Regulates the circadian clock by repressing the transcriptional activator activity of the CLOCK-ARNTL/BMAL1 heterodimer. Significantly promotes the cytoplasmic accumulation of CLOCK (By similarity). Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13 region. Affected individuals exhibit neonatal hypotonia, developmental delay, and childhood-onset obesity. Necdin (NDN), a gene involved in the terminal differentiation of neurons, localizes to this region of the genome and has been implicated as one of the genes responsible for the etiology of PWS. This gene is structurally similar to NDN, is also localized to the PWS chromosomal region, and is paternally imprinted, suggesting a possible role for it in PWS. [provided by RefSeq, Oct 2010]

Uniprot Accession IDs

• Q9UJ55
• H0YDD5

Gene Name

• MAGEL2

Ensembl ID

• ENST00000532292
• ENSP00000433433
• ENSG00000254585
• ENST00000650528
• ENSP00000497810

Symbol

• NDNL1
• PWLS
• nM15
• NDNL1
• SHFYNG

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
tissue sample	0.68
cell line	0.58
tissue	0.57
cellular component	0.52
cell type or tissue	0.46

Protein Classes

PANTHER Classes

Protein / Cell Adhesion Molecule / Mage-like Protein 2

DTO Classes

Protein / Cell Adhesion / Mage-like Protein 2

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 99.26   (req: < 5)

Gene RIFs: 18   (req: <= 3)

Antibodies: 95   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 99.26   (req: >= 5)

Gene RIFs: 18   (req: > 3)

Antibodies: 95   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 7

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0