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Mbtps2 membrane-bound transcription factor peptidase, site 2 [ Mus musculus (house mouse) ]

Gene ID: 270669, updated on 11-Apr-2024


Official Symbol
Mbtps2provided by MGI
Official Full Name
membrane-bound transcription factor peptidase, site 2provided by MGI
Primary source
See related
Ensembl:ENSMUSG00000046873 AllianceGenome:MGI:2444506
Gene type
protein coding
RefSeq status
Mus musculus
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Predicted to enable metalloendopeptidase activity. Predicted to be involved in several processes, including bone maturation; membrane protein intracellular domain proteolysis; and regulation of transcription, DNA-templated. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be active in cytoplasm. Is expressed in several structures, including brain; genitourinary system; hemolymphoid system gland; liver; and lung. Human ortholog(s) of this gene implicated in X-linked keratosis follicularis spinulosa decalvans; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques; ichthyosis follicularis-alopecia-photophobia syndrome 1; and osteogenesis imperfecta type 19. Orthologous to human MBTPS2 (membrane bound transcription factor peptidase, site 2). [provided by Alliance of Genome Resources, Apr 2022]
Ubiquitous expression in CNS E18 (RPKM 8.9), whole brain E14.5 (RPKM 7.1) and 26 other tissues See more
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Genomic context

X F4; X 72.55 cM
Exon count:
Annotation release Status Assembly Chr Location
RS_2024_02 current GRCm39 (GCF_000001635.27) X NC_000086.8 (156330818..156381711, complement)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) X NC_000086.7 (157547822..157598715, complement)

Chromosome X - NC_000086.8Genomic Context describing neighboring genes Neighboring gene mitochondrial import receptor subunit TOM5 homolog Neighboring gene STARR-seq mESC enhancer starr_48153 Neighboring gene DnaJ (Hsp40) homolog, subfamily B, member 9 pseudogene Neighboring gene STARR-seq mESC enhancer starr_48154 Neighboring gene Yy2 transcription factor Neighboring gene STARR-seq mESC enhancer starr_48156 Neighboring gene STARR-positive B cell enhancer ABC_E7709 Neighboring gene STARR-seq mESC enhancer starr_48157 Neighboring gene predicted gene 15173 Neighboring gene STARR-seq mESC enhancer starr_48159 Neighboring gene protein Hikeshi pseudogene

Genomic regions, transcripts, and products


  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a


GeneRIFs: Gene References Into Functions

What's a GeneRIF?



Alleles of this type are documented at Mouse Genome Informatics  (MGI)

Pathways from PubChem

General gene information


Clone Names

  • MGC25655

Gene Ontology Provided by MGI

Function Evidence Code Pubs
enables metalloendopeptidase activity IBA
Inferred from Biological aspect of Ancestor
more info
enables metalloendopeptidase activity ISO
Inferred from Sequence Orthology
more info
enables metalloendopeptidase activity TAS
Traceable Author Statement
more info
enables transcription regulator activator activity ISO
Inferred from Sequence Orthology
more info
Component Evidence Code Pubs
located_in Golgi membrane TAS
Traceable Author Statement
more info
is_active_in cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
located_in endoplasmic reticulum membrane TAS
Traceable Author Statement
more info

General protein information

Preferred Names
membrane-bound transcription factor site-2 protease
S2P endopeptidase
endopeptidase S2P
membrane-bound transcription factor protease, site 2
site-2 protease

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_172307.3NP_758511.1  membrane-bound transcription factor site-2 protease

    See identical proteins and their annotated locations for NP_758511.1

    Status: VALIDATED

    Source sequence(s)
    AK164486, BB556642, BY322697
    Consensus CDS
    A2AC85, Q8CHX6
    ENSMUSP00000059471.9, ENSMUST00000058098.15
    Conserved Domains (3) summary
    S2P-M50; Site-2 protease (S2P) class of zinc metalloproteases (MEROPS family M50) cleaves transmembrane domains of substrate proteins, regulating intramembrane proteolysis (RIP) of diverse signal transduction mechanisms. Members of this family use proteolytic ...
    S2P-M50_PDZ_SREBP; Sterol regulatory element-binding protein (SREBP) Site-2 protease (S2P), a zinc metalloprotease (MEROPS family M50A), regulates intramembrane proteolysis (RIP) of SREBP and is part of a signal transduction mechanism involved in sterol and lipid ...
    PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCm39 C57BL/6J


  1. NC_000086.8 Reference GRCm39 C57BL/6J

    156330818..156381711 complement
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_178266.3: Suppressed sequence

    NM_178266.3: This RefSeq was permanently suppressed because it contains the wrong CDS.