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Aliases for MBTPS2 Gene

Aliases for MBTPS2 Gene

  • Membrane Bound Transcription Factor Peptidase, Site 2 2 3 5
  • 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
  • Site-2 Protease 2 3
  • EC 3.4.24.85 4 63
  • S2P 3 4
  • Membrane-Bound Transcription Factor Peptidase, Site 2 3
  • BRESEK 3
  • KFSDX 3
  • OLMSX 3
  • IFAP 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 Olmsted Syndrome, X-Linked and Keratosis Follicularis Spinulosa Decalvans, X-Linked. Among its related pathways are Metabolism and Unfolded Protein Response (UPR). 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

Enhancers for MBTPS2 Gene
GeneHancer Identifier Score Enhancer Sources TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Other Gene Targets for Enhancer

Enhancers around MBTPS2 on UCSC Golden Path with GeneCards custom track

Promoters for MBTPS2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MBTPS2 on UCSC Golden Path with GeneCards custom track

Genomic Location for MBTPS2 Gene

Chromosome:
X
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

Genes around MBTPS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MBTPS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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;
    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 Asn 337
  • Modification sites at PhosphoSitePlus

Other Protein References for MBTPS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for MBTPS2 (MBTPS2)
  • Santa Cruz Biotechnology (SCBT) Antibodies for MBTPS2

Domains & Families for MBTPS2 Gene

Suggested Antigen Peptide Sequences for MBTPS2 Gene

Graphical View of Domain Structure for InterPro Entry

O43462

UniProtKB/Swiss-Prot:

MBTP2_HUMAN :
  • Belongs to the peptidase M50A family.
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 --
genes like me logo Genes that share ontologies with MBTPS2: view
genes like me logo Genes that share phenotypes with MBTPS2: view

Human Phenotype Ontology for MBTPS2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for MBTPS2

CRISPR Products

No data available for Animal Models , Transcription Factor Targets 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
cytosol 2
mitochondrion 2
nucleus 2
extracellular 1

No data available for Gene Ontology (GO) - Cellular Components for MBTPS2 Gene

Pathways & Interactions for MBTPS2 Gene

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

Pathways by source for MBTPS2 Gene

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

Interacting Proteins for MBTPS2 Gene

SIGNOR curated interactions for MBTPS2 Gene

Activates:

Gene Ontology (GO) - Biological Process for MBTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0031293 membrane protein intracellular domain proteolysis IGI 11163209
GO:0034976 response to endoplasmic reticulum stress ISS --
GO:0036500 ATF6-mediated unfolded protein response TAS 22934019
GO:0044267 cellular protein metabolic process TAS --
GO:0044281 small molecule metabolic process TAS --
genes like me logo Genes that share ontologies with MBTPS2: view

Drugs & Compounds for MBTPS2 Gene

(2) Drugs for MBTPS2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MBTPS2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

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

Protein differential expression in normal tissues from HIPED for MBTPS2 Gene

This gene is overexpressed in Placenta (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, 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 expression patterns with MBTPS2: view

Protein tissue co-expression partners for MBTPS2 Gene

- Elite partner

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and 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
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
chimpanzee
(Pan troglodytes)
Mammalia MBTPS2 35
  • 98.59 (n)
  • 99.04 (a)
MBTPS2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mbtps2 35
  • 91.97 (n)
  • 97.88 (a)
oppossum
(Monodelphis domestica)
Mammalia MBTPS2 36
  • 74 (a)
OneToOne
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
fruit fly
(Drosophila melanogaster)
Insecta S2P 37
  • 29 (a)
S2P 35
  • 44.94 (n)
  • 32.05 (a)
S2P 36
  • 30 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011819 35
  • 41.53 (n)
  • 30.21 (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
VAR_063054 IFAP syndrome with or without BRESHECK syndrome (IFAPS)
VAR_063055 IFAP syndrome with or without BRESHECK syndrome (IFAPS)
VAR_063056 IFAP syndrome with or without BRESHECK syndrome (IFAPS)
VAR_063057 IFAP syndrome with or without BRESHECK syndrome (IFAPS)
VAR_063058 IFAP syndrome with or without BRESHECK syndrome (IFAPS)

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

Variant ID Type Subtype PubMed ID
esv2740003 CNV Deletion 23290073

Variation tolerance for MBTPS2 Gene

Residual Variation Intolerance Score: 21.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.59; 12.66% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MBTPS2 Gene

Human Gene Mutation Database (HGMD)
MBTPS2

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

Disorders for MBTPS2 Gene

MalaCards: The human disease database

(21) MalaCards diseases for MBTPS2 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
olmsted syndrome, x-linked
  • mutilating palmoplantar keratoderma with periorificial keratotic plaques, x-linked
keratosis follicularis spinulosa decalvans, x-linked
  • keratosis follicularis spinulosa decalvans cum ophiasi
ifap syndrome with or without bresheck syndrome
  • ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
keratosis follicularis spinulosa decalvans
  • keratosis follicularis spinulosa decalvans, x-linked
ichthyosis follicularis-alopecia-photophobia syndrome
  • ichthyosis follicularis atrichia photophobia syndrome
- elite association - COSMIC cancer census association via MalaCards

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.
  • 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.
  • 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.

Relevant External Links for MBTPS2

Genetic Association Database (GAD)
MBTPS2
Human Genome Epidemiology (HuGE) Navigator
MBTPS2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MBTPS2
genes like me logo Genes that share disorders with MBTPS2: view

No data available for Genatlas for MBTPS2 Gene

Publications for MBTPS2 Gene

  1. Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2. (PMID: 20672378) Aten E. … den Dunnen J.T. (Hum. Mutat. 2010) 2 3 4 67
  2. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome due to mutation of the gene MBTPS2 in a large Australian kindred. (PMID: 19689518) Ming A. … Fischer G. (Pediatr Dermatol 2009) 3 23
  3. Dependence of site-2 protease cleavage of ATF6 on prior site-1 protease digestion is determined by the size of the luminal domain of ATF6. (PMID: 15299016) Shen J. … Prywes R. (J. Biol. Chem. 2004) 3 23
  4. 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 23
  5. Toward a complete human genome sequence. (PMID: 9847074) Sulston J.E. … Waterston R. (Genome Res. 1998) 2 3

Products for MBTPS2 Gene

Sources for MBTPS2 Gene

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