U.S. flag

An official website of the United States government


Send to:

Choose Destination
    • Showing Current items.

    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
    Try the new Gene table
    Try the new Transcript table

    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)

    NEW Try the new Transcript table

    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.