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    Mbtps2 membrane-bound transcription factor peptidase, site 2 [ Rattus norvegicus (Norway rat) ]

    Gene ID: 302705, updated on 9-Dec-2024

    Summary

    Symbol
    Mbtps2provided by RGD
    Full Name
    membrane-bound transcription factor peptidase, site 2provided by RGD
    Primary source
    RGD:1566171
    See related
    AllianceGenome:RGD:1566171
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Rattus norvegicus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Rattus
    Also known as
    LRRGT00063
    Summary
    Predicted to enable metalloendopeptidase activity and transcription regulator activator activity. Predicted to be involved in several processes, including bone maturation; membrane protein intracellular domain proteolysis; and mitotic G2 DNA damage checkpoint signaling. Predicted to be located in membrane. Predicted to be active in cytoplasm. 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, Dec 2024]
    Expression
    Biased expression in Adrenal (RPKM 43.2), Spleen (RPKM 36.7) and 9 other tissues See more
    Orthologs
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    Genomic context

    See Mbtps2 in Genome Data Viewer
    Location:
    Xq21
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCr8 (GCF_036323735.1) X NC_086039.1 (41225956..41290030)
    RS_2023_06 previous assembly mRatBN7.2 (GCF_015227675.2) X NC_051356.1 (37410914..37461130)
    106 previous assembly Rnor_6.0 (GCF_000001895.5) X NC_005120.4 (40258933..40309047)

    Chromosome X - NC_086039.1Genomic Context describing neighboring genes Neighboring gene small muscle protein, X-linked Neighboring gene estrogen receptor binding site associated, antigen, 9, pseudogene 2 Neighboring gene YY2 transcription factor Neighboring gene spermine synthase Neighboring gene small nucleolar RNA SNORA17

    Genomic regions, transcripts, and products

    Expression

    • Project title: A rat RNA-Seq transcriptomic BodyMap across 11 organs and 4 developmental stages
    • Description: 320 RNA samples isolated from 11 organs (adrenal gland, brain, heart, kidney, liver, lung, muscle, spleen, thymus, and testes or uterus) from both sexes of Fischer 344 rats across four developmental stages (2-, 6-, 21-, and 104-weeks-old)
    • BioProject: PRJNA238328
    • Publication: PMID 24510058
    • Analysis date: Mon Jun 6 17:44:12 2016

    General gene information

    Gene Ontology Provided by RGD

    Component Evidence Code Pubs
    located_in cytoplasm  
    located_in endomembrane system  
    located_in membrane  

    General protein information

    Preferred Names
    membrane-bound transcription factor site-2 protease
    Names
    membrane-bound transcription factor protease, site 2
    NP_001030179.1
    XP_063136010.1
    XP_063136011.1
    XP_063136012.1
    XP_063136013.1

    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_001035007.2 → NP_001030179.1  membrane-bound transcription factor site-2 protease

      Status: VALIDATED

      Source sequence(s)
      JAXUCZ010000021
      UniProtKB/TrEMBL
      A0A8I6AN61
      Conserved Domains (3) summary
      cd05709
      Location:419 → 508
      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 ...
      cd06162
      Location:14 → 229
      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 ...
      cl00117
      Location:255 → 299
      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_036323735.1-RS_2024_02

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

    Reference GRCr8

    Genomic

    1. NC_086039.1 Reference GRCr8

      Range
      41225956..41290030
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_063279940.1 → XP_063136010.1  membrane-bound transcription factor site-2 protease isoform X1

    2. XM_063279941.1 → XP_063136011.1  membrane-bound transcription factor site-2 protease isoform X2

      UniProtKB/TrEMBL
      D3ZDS6
    3. XM_063279943.1 → XP_063136013.1  membrane-bound transcription factor site-2 protease isoform X4

    4. XM_063279942.1 → XP_063136012.1  membrane-bound transcription factor site-2 protease isoform X3

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