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

Gene ID: 302705, updated on 27-Nov-2024

Summary

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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, Nov 2024]
Expression
Biased expression in Adrenal (RPKM 43.2), Spleen (RPKM 36.7) and 9 other tissues See more
Orthologs
human mouse all
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Genomic context

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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

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • 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

Bibliography

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Related articles in PubMed

  1. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. Lindert U, et al. Nat Commun, 2016 Jul 6. PMID 27380894, Free PMC Article
  2. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Oeffner F, et al. Am J Hum Genet, 2009 Apr. PMID 19361614, Free PMC Article
  3. Molecular Mechanism of the ATF6α/S1P/S2P Signaling Pathway in Hippocampal Neuronal Apoptosis in SPS Rats. Han L, et al. J Mol Neurosci, 2021 Dec. PMID 33738762
  4. Evolutionary conservation and adaptation in the mechanism that regulates SREBP action: what a long, strange tRIP it's been. Osborne TF, et al. Genes Dev, 2009 Nov 15. PMID 19933148, Free PMC Article
  5. ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs. Ye J, et al. Mol Cell, 2000 Dec. PMID 11163209

See all (7) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Molecular Mechanism of the ATF6alpha/S1P/S2P Signaling Pathway in Hippocampal Neuronal Apoptosis in SPS Rats.
    Title: Molecular Mechanism of the ATF6α/S1P/S2P Signaling Pathway in Hippocampal Neuronal Apoptosis in SPS Rats.
Submit: New GeneRIF Correction

General gene information

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Markers

Homology

Gene Ontology Provided by RGD

Function Evidence Code Pubs
enables metalloendopeptidase activity ISO
Inferred from Sequence Orthology
more info
  
enables transcription regulator activator activity ISO
Inferred from Sequence Orthology
more info
  
Process Evidence Code Pubs
involved_in biological_process ND
No biological Data available
more info
  
involved_in bone maturation ISO
Inferred from Sequence Orthology
more info
  
involved_in membrane protein intracellular domain proteolysis ISO
Inferred from Sequence Orthology
more info
  
involved_in mitotic G2 DNA damage checkpoint signaling ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of cholesterol biosynthetic process ISO
Inferred from Sequence Orthology
more info
  
involved_in positive regulation of transcription by RNA polymerase II ISO
Inferred from Sequence Orthology
more info
  
involved_in protein maturation ISO
Inferred from Sequence Orthology
more info
  
involved_in response to endoplasmic reticulum stress ISO
Inferred from Sequence Orthology
more info
  
Component Evidence Code Pubs
located_in cytoplasm ISO
Inferred from Sequence Orthology
more info
  
located_in endomembrane system IEA
Inferred from Electronic Annotation
more info
  
located_in membrane IEA
Inferred from Electronic Annotation
more info
  

General protein information

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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

Nucleotide Protein Strain
Heading Accession and Version

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