Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MBTPS2 Gene

Aliases for MBTPS2 Gene

  • Membrane-Bound Transcription Factor Peptidase, Site 2 2 3
  • S2P 3 4 6
  • Sterol Regulatory Element-Binding Proteins Intramembrane Protease 3 4
  • Membrane-Bound Transcription Factor Protease, Site 2 2 3
  • Keratosis Follicularis Spinulosa Decalvans 2 3
  • SREBPs Intramembrane Protease 3 4
  • Endopeptidase S2P 3 4
  • EC 3.4.24.85 4 63
  • KFSDX 3 6
  • IFAP 3 6
  • Membrane-Bound Transcription Factor Site-2 Protease 3
  • BRESEK 3
  • OLMSX 3
  • KFSD 3

External Ids for MBTPS2 Gene

Previous HGNC Symbols for MBTPS2 Gene

  • KFSD

Previous GeneCards Identifiers for MBTPS2 Gene

  • GC0XP020460
  • GC0XP021059
  • GC0XP021219
  • GC0XP021617
  • GC0XP021767
  • GC0XP019598
  • GC0XP021857

Summaries for MBTPS2 Gene

Entrez Gene Summary for MBTPS2 Gene

  • This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]

GeneCards Summary for MBTPS2 Gene

MBTPS2 (Membrane-Bound Transcription Factor Peptidase, Site 2) is a Protein Coding gene. Diseases associated with MBTPS2 include ifap syndrome with or without bresheck syndrome and keratosis follicularis spinulosa decalvans, x-linked. Among its related pathways are Regulation of Cholesterol Biosynthesis by SREBP (SREBF) and Metabolism. GO annotations related to this gene include metalloendopeptidase activity.

UniProtKB/Swiss-Prot for MBTPS2 Gene

  • Intramembrane proteolysis of sterol-regulatory element-binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MBTPS2 Gene

Genomics for MBTPS2 Gene

Regulatory Elements for MBTPS2 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MBTPS2 Gene

Start:
21,839,538 bp from pter
End:
21,885,424 bp from pter
Size:
45,887 bases
Orientation:
Plus strand

Genomic View for MBTPS2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MBTPS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MBTPS2 Gene

Proteins for MBTPS2 Gene

  • Protein details for MBTPS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O43462-MBTP2_HUMAN
    Recommended name:
    Membrane-bound transcription factor site-2 protease
    Protein Accession:
    O43462
    Secondary Accessions:
    • Q9UM70
    • Q9UMD3

    Protein attributes for MBTPS2 Gene

    Size:
    519 amino acids
    Molecular mass:
    57444 Da
    Cofactor:
    Name=Zn(2+); Xref=ChEBI:CHEBI:29105; Note=Binds 1 zinc ion per subunit.;
    Quaternary structure:
    No Data Available

neXtProt entry for MBTPS2 Gene

Proteomics data for MBTPS2 Gene at MOPED

Post-translational modifications for MBTPS2 Gene

  • Glycosylation at Asn337
  • Modification sites at PhosphoSitePlus

Other Protein References for MBTPS2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

Domains for MBTPS2 Gene

Suggested Antigen Peptide Sequences for MBTPS2 Gene

Graphical View of Domain Structure for InterPro Entry

O43462

UniProtKB/Swiss-Prot:

MBTP2_HUMAN :
  • O43462
Family:
  • Belongs to the peptidase M50A family.
genes like me logo Genes that share domains with MBTPS2: view

No data available for Gene Families for MBTPS2 Gene

Function for MBTPS2 Gene

Molecular function for MBTPS2 Gene

UniProtKB/Swiss-Prot CatalyticActivity: Cleaves several transcription factors that are type-2 transmembrane proteins within membrane-spanning domains. Known substrates include sterol regulatory element-binding protein (SREBP) -1, SREBP-2 and forms of the transcriptional activator ATF6. SREBP-2 is cleaved at the site 477-DRSRILL- -CVLTFLCLSFNPLTSLLQWGGA-505. The residues Asn-Pro, 11 residues distal to the site of cleavage in the membrane-spanning domain, are important for cleavage by S2P endopeptidase. Replacement of either of these residues does not prevent cleavage, but there is no cleavage if both of these residues are replaced
UniProtKB/Swiss-Prot Function: Intramembrane proteolysis of sterol-regulatory element-binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop

Enzyme Numbers (IUBMB) for MBTPS2 Gene

Gene Ontology (GO) - Molecular Function for MBTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004222 metalloendopeptidase activity IEA --
GO:0005515 protein binding --
GO:0046872 metal ion binding IEA --
genes like me logo Genes that share ontologies with MBTPS2: view

Phenotypes for MBTPS2 Gene

GenomeRNAi human phenotypes for MBTPS2:
genes like me logo Genes that share phenotypes with MBTPS2: view

Animal Model Products

CRISPR Products

miRNA for MBTPS2 Gene

miRTarBase miRNAs that target MBTPS2

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MBTPS2

In Situ Assay Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targeting and HOMER Transcription for MBTPS2 Gene

Localization for MBTPS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MBTPS2 Gene

Membrane; Multi-pass membrane protein. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MBTPS2 Gene COMPARTMENTS Subcellular localization image for MBTPS2 gene
Compartment Confidence
golgi apparatus 4
plasma membrane 3
cytoskeleton 2
extracellular 1

Gene Ontology (GO) - Cellular Components for MBTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IDA 19361614
GO:0016020 membrane --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MBTPS2: view

Pathways for MBTPS2 Gene

genes like me logo Genes that share pathways with MBTPS2: view

Pathways by source for MBTPS2 Gene

1 Qiagen pathway for MBTPS2 Gene
1 Cell Signaling Technology pathway for MBTPS2 Gene
1 BioSystems pathway for MBTPS2 Gene

PCR Array Products

  • Pathway & Disease-focused RT² Profiler PCR Arrays

Interacting Proteins for MBTPS2 Gene

Gene Ontology (GO) - Biological Process for MBTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006508 proteolysis --
GO:0006987 activation of signaling protein activity involved in unfolded protein response --
GO:0008203 cholesterol metabolic process IEA --
GO:0030968 endoplasmic reticulum unfolded protein response TAS --
GO:0031293 membrane protein intracellular domain proteolysis IGI 11163209
genes like me logo Genes that share ontologies with MBTPS2: view

Compounds for MBTPS2 Gene

(3) Novoseek inferred chemical compound relationships for MBTPS2 Gene

Compound -log(P) Hits PubMed IDs
sterol 66.4 1
zinc 45.2 3
cholesterol 9.58 1
genes like me logo Genes that share compounds with MBTPS2: view

Transcripts for MBTPS2 Gene

mRNA/cDNA for MBTPS2 Gene

Unigene Clusters for MBTPS2 Gene

Membrane-bound transcription factor peptidase, site 2:
Representative Sequences:

CRISPR Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MBTPS2

Primer Products

  • OriGene qSTAR qPCR primer pairs in human,mouse,rat for MBTPS2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for MBTPS2 Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7a · 7b ^ 8a · 8b ^ 9 ^ 10 ^ 11
SP1:
SP2:
SP3:
SP4: -
SP5:

Relevant External Links for MBTPS2 Gene

GeneLoc Exon Structure for
MBTPS2
ECgene alternative splicing isoforms for
MBTPS2

Expression for MBTPS2 Gene

mRNA expression in normal human tissues for MBTPS2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, MOPED, and MaxQB for MBTPS2 Gene

SOURCE GeneReport for Unigene cluster for MBTPS2 Gene Hs.443490

mRNA Expression by UniProt/SwissProt for MBTPS2 Gene

O43462-MBTP2_HUMAN
Tissue specificity: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas
genes like me logo Genes that share expressions with MBTPS2: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MBTPS2 Gene

Orthologs for MBTPS2 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for MBTPS2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MBTPS2 35
  • 98.59 (n)
  • 99.04 (a)
MBTPS2 36
  • 99 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MBTPS2 35
  • 93.15 (n)
  • 97.29 (a)
MBTPS2 36
  • 97 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MBTPS2 35
  • 93.9 (n)
  • 98.27 (a)
MBTPS2 36
  • 99 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mbtps2 35
  • 92.23 (n)
  • 97.48 (a)
Mbtps2 16
Mbtps2 36
  • 97 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MBTPS2 36
  • 74 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbtps2 35
  • 91.97 (n)
  • 97.88 (a)
chicken
(Gallus gallus)
Aves MBTPS2 35
  • 73.48 (n)
  • 70.65 (a)
MBTPS2 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MBTPS2 36
  • 71 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mbtps2 35
  • 68.49 (n)
  • 69.03 (a)
Str.20122 35
zebrafish
(Danio rerio)
Actinopterygii mbtps2 35
  • 63.43 (n)
  • 63.36 (a)
mbtps2 36
  • 63 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011819 35
  • 41.53 (n)
  • 30.21 (a)
fruit fly
(Drosophila melanogaster)
Insecta S2P 35
  • 44.94 (n)
  • 32.05 (a)
S2P 36
  • 30 (a)
OneToOne
S2P 37
  • 29 (a)
worm
(Caenorhabditis elegans)
Secernentea Y56A3A.2 35
  • 45.75 (n)
  • 36.69 (a)
Y56A3A.2 36
  • 26 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT4G20310 35
  • 42.68 (n)
  • 28.57 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.11616 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 37 (a)
OneToOne
Species with no ortholog for MBTPS2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MBTPS2 Gene

ENSEMBL:
Gene Tree for MBTPS2 (if available)
TreeFam:
Gene Tree for MBTPS2 (if available)

Paralogs for MBTPS2 Gene

No data available for Paralogs for MBTPS2 Gene

Variants for MBTPS2 Gene

Sequence variations from dbSNP and Humsavar for MBTPS2 Gene

SNP ID Clin Chr 0X pos Sequence Context AA Info Type MAF
rs1989323 -- 21,866,720(+) CATTG(C/T)AGTGA intron-variant
rs2001013 -- 21,846,457(+) CCTCC(A/G)CCTCG intron-variant
rs2014763 -- 21,837,653(+) AAGCC(A/G)GCAGA upstream-variant-2KB
rs2071191 -- 21,869,269(+) CAAGT(C/T)GGCTT intron-variant
rs2071210 -- 21,851,865(+) TTTCC(A/G)GTGTG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MBTPS2 Gene

Variant ID Type Subtype PubMed ID
esv2740003 CNV Deletion 23290073

Relevant External Links for MBTPS2 Gene

HapMap Linkage Disequilibrium report
MBTPS2
Human Gene Mutation Database (HGMD)
MBTPS2
Locus Specific Mutation Databases (LSDB)
MBTPS2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBTPS2 Gene

Disorders for MBTPS2 Gene

(2) OMIM Diseases for MBTPS2 Gene (300294)

UniProtKB/Swiss-Prot

MBTP2_HUMAN
  • IFAP syndrome with or without BRESHECK syndrome (IFAPS) [MIM:308205]: A syndrome characterized by a peculiar triad of follicular ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. {ECO:0000269 PubMed:19361614}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Olmsted syndrome, X-linked (OLMSX) [MIM:300918]: A rare congenital disorder characterized by bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe itching at all lesions. Diffuse alopecia, constriction of digits, and onychodystrophy have also been reported. Infections and squamous cell carcinomas can arise on the keratotic areas. The digital constriction may progress to autoamputation of fingers and toes. {ECO:0000269 PubMed:22931912}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]: A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. {ECO:0000269 PubMed:20672378}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for MBTPS2 Gene

Relevant External Links for MBTPS2

Genetic Association Database (GAD)
MBTPS2
Human Genome Epidemiology (HuGE) Navigator
MBTPS2
genes like me logo Genes that share disorders with MBTPS2: view

Publications for MBTPS2 Gene

  1. Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs. (PMID: 9659902) Rawson R.B. … Goldstein J.L. (Mol. Cell 1997) 2 3 4
  2. Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease. (PMID: 10805775) Ye J. … Brown M.S. (Proc. Natl. Acad. Sci. U.S.A. 2000) 3 4 23
  3. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. (PMID: 20672378) Aten E. … den Dunnen J.T. (Hum. Mutat. 2010) 2 3 4
  4. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. (PMID: 22931912) Haghighi A. … Kelsell D.P. (J. Invest. Dermatol. 2013) 3 4
  5. The DNA sequence of the human X chromosome. (PMID: 15772651) Ross M.T. … Bentley D.R. (Nature 2005) 3 4

Products for MBTPS2 Gene

Sources for MBTPS2 Gene

Back to Top

Content