membrane bound transcription factor peptidase, site 2

Summary
Gene Symbol
  • MBTPS2
Organism
Homo sapiens (human)
NCBI Gene
51360
PubChem
51360
Alliance of Genome Resources
Annotation
Keyword
  • Cholesterol metabolism
  • Cytoplasm
  • Disease variant
  • Glycoprotein
  • Golgi apparatus
  • Ichthyosis
  • Metal-binding
  • Metalloprotease
  • Osteogenesis imperfecta
  • Palmoplantar keratoderma
  • Proteomics identification
  • Reference proteome
  • Transmembrane helix
  • Zinc
Proteins
Displaying 1 entry
UniProt Protein Name
O43462
  • Endopeptidase S2P
  • Sterol regulatory element-binding proteins intramembrane protease
Gene Ontology (GO)
GO Hierarchy
OrthoDB (Group)
Group level
Eukaryota
Group Name
Membrane-bound transcription factor site-2 protease
Functional Category
  • K: Transcription
  • O: Posttranslational modification, protein turnover, chaperones
  • T: Signal transduction mechanisms
Disease
Disease Ontology
Displaying all 4 entries
DO ID Disease Name Source
DOID:0080754 X-linked keratosis follicularis spinulosa decalvans
DOID:0111821 ichthyosis follicularis-alopecia-photophobia syndrome 1
DOID:0111847 osteogenesis imperfecta type 19
DOID:0112012 X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques

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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 8, 2025