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

Summary

Official Symbol: Mbtps2provided by MGI
Official Full Name: membrane-bound transcription factor peptidase, site 2provided by MGI
Primary source: MGI:MGI:2444506
See related: Ensembl:ENSMUSG00000046873 AllianceGenome:MGI:2444506
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Mus musculus
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as: 9630032G22Rik
Summary: Predicted to enable metalloendopeptidase activity and transcription regulator activator activity. Involved in mitotic G2 DNA damage checkpoint signaling. Predicted to be located in Golgi membrane and endoplasmic reticulum membrane. Predicted to be active in cytoplasm. Is expressed in several structures, including cerebellum; genitourinary system; hemolymphoid system gland; liver; and pallium. 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: Ubiquitous expression in CNS E18 (RPKM 8.9), whole brain E14.5 (RPKM 7.1) and 26 other tissues See more
Orthologs: human all
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Genomic context

Location:: X F4; X 72.55 cM

Exon count:: 11

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_000086.8 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage.
Title: Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage.
MBTPS2 acts as a regulator of lipogenesis and cholesterol synthesis through SREBP signalling in prostate cancer.
Title: MBTPS2 acts as a regulator of lipogenesis and cholesterol synthesis through SREBP signalling in prostate cancer.
MBTPS2 exacerbates albuminuria in streptozotocin-induced type I diabetic nephropathy by promoting endoplasmic reticulum stress-mediated renal damage.
Title: MBTPS2 exacerbates albuminuria in streptozotocin-induced type I diabetic nephropathy by promoting endoplasmic reticulum stress-mediated renal damage.
Data detected yy1, yy2, and mbtps2 mRNA in primary mouse neurons, microglia cells, and astrocytes. In comparison to yy2 and mbtps2, yy1 revealed the highest expression level in all cell types.
Title: Developmental expression profile of the YY2 gene in mice.

Submit: New GeneRIF Correction

Variation

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Alleles

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

Endonuclease-mediated (3) 1 citation

General gene information

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Markers

AI662535 (e-PCR)
- UniSTS:181343

Mbtps2 (e-PCR), detects polymorphism
- UniSTS:530588

UniSTS:530593 (e-PCR)
- UniSTS:530593

Yy2 (e-PCR), detects polymorphism
- UniSTS:530593

Yy2 (e-PCR), detects polymorphism
- UniSTS:530878

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables metal ion binding	IEA Inferred from Electronic Annotation more info
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	IEA Inferred from Electronic Annotation more info
enables transcription regulator activator activity	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
involved_in bone maturation	ISO Inferred from Sequence Orthology more info
involved_in bone maturation	ISS Inferred from Sequence or Structural Similarity more info
involved_in cholesterol metabolic process	IEA Inferred from Electronic Annotation more info
involved_in membrane protein intracellular domain proteolysis	IBA Inferred from Biological aspect of Ancestor more info
involved_in membrane protein intracellular domain proteolysis	IEA Inferred from Electronic Annotation more info
involved_in membrane protein intracellular domain proteolysis	ISO Inferred from Sequence Orthology more info
involved_in mitotic G2 DNA damage checkpoint signaling	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of transcription by RNA polymerase II	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of transcription by RNA polymerase II	ISO Inferred from Sequence Orthology more info
involved_in protein maturation	IEA Inferred from Electronic Annotation more info
involved_in protein maturation	ISO Inferred from Sequence Orthology more info
involved_in regulation of response to endoplasmic reticulum stress	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to endoplasmic reticulum stress	IEA Inferred from Electronic Annotation more info
involved_in response to endoplasmic reticulum stress	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 cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in endoplasmic reticulum membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: membrane-bound transcription factor site-2 protease

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

NP_758511.1

EC 3.4.24.85

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)

NM_172307.3 → NP_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

CCDS30498.1

UniProtKB/Swiss-Prot

A2AC85, Q8CHX6

Related

ENSMUSP00000059471.9, ENSMUST00000058098.15

Conserved Domains (3) summary

cd05709
Location:415 → 504

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 → 225

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:251 → 295

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. ...