Tbio MBTPS2 Membrane-bound transcription factor site-2 protease

Protein Summary

Description

Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves sterol-regulatory element-binding proteins (SREBPs) within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription (PubMed:9659902, PubMed:27380894). Involved in RIP-mediated regulation of bone formation (PubMed:27380894). This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]

Uniprot Accession IDs

• O43462
• Q9UM70
• Q9UMD3

Gene Name

• MBTPS2

Ensembl ID

• ENST00000379484
• ENSP00000368798
• ENSG00000012174

Symbol

• S2P
• S2P
• IFAP
• KFSD
• OI19
• KFSDX
• OLMSX
• BRESEK

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
kinase perturbation	0.93
transcription factor perturbation	0.84
transcription factor binding site profile	0.82
phenotype	0.76
histone modification site profile	0.74

Protein Classes

PANTHER Classes

Protein / Hydrolase / Protease / Metalloprotease / Membrane-bound Transcription Factor Site-2 Protease

DTO Classes

Protein / Enzyme / Protease / Metalloprotease / Membrane-bound Transcription Factor Site-2 Protease

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: 201.11   (req: < 5)

Gene RIFs: 19   (req: <= 3)

Antibodies: 141   (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: 201.11   (req: >= 5)

Gene RIFs: 19   (req: > 3)

Antibodies: 141   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 11

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