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 li... See more...

Aliases for MBTPS2 Gene

Aliases for MBTPS2 Gene

  • Membrane Bound Transcription Factor Peptidase, Site 2 2 3 5
  • S2P 2 3 4
  • Sterol Regulatory Element-Binding Proteins Intramembrane Protease 3 4
  • Membrane-Bound Transcription Factor Protease, Site 2 2 3
  • Membrane-Bound Transcription Factor Site-2 Protease 3 4
  • 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 50
  • BRESEK 3
  • MBTPS2 5
  • KFSDX 3
  • OLMSX 3
  • IFAP 3
  • KFSD 3
  • OI19 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 1, With Or Without Bresheck Syndrome and Olmsted Syndrome, X-Linked. Among its related pathways are Unfolded Protein Response (UPR) and Lipoprotein metabolism. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity.

UniProtKB/Swiss-Prot Summary for MBTPS2 Gene

  • Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:11163209, PubMed:10805775). Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: cleaves SREBPs within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached (PubMed:10805775, PubMed:27380894, PubMed:9659902). Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription (PubMed:10805775, PubMed:27380894, PubMed:9659902). Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:11163209). Involved in intramembrane proteolysis during bone formation (PubMed:27380894).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MBTPS2 Gene

Genomics for MBTPS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for MBTPS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ021838 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 250.7 +0.4 384 2.4 BCLAF1 SP1 ZNF207 ZNF654 MYC ZNF600 SIX5 ZNF580 KLF9 POLR2A ENSG00000275681 MBTPS2 YY2
GH0XJ021971 Enhancer 0.6 ENCODE 12.8 +133.7 133684 4 JUND CTCF ZNF217 ELF1 CTBP1 CUX1 ZNF585B TCF7L2 SPI1 SMARCE1 SMS MBTPS2 YY2 HSALNG0136967 piR-61945-525 PHEX
GH0XJ021975 Enhancer 0.4 ENCODE 12.8 +136.1 136100 0.8 ZNF654 CTCF RAD21 SMC3 MBTPS2 HSALNG0136967 piR-61945-525 SMS PHEX
GH0XJ021989 Enhancer 1.2 FANTOM5 Ensembl ENCODE 4.5 +154.4 154384 10.4 NCOR1 NFIC CEBPB GABPA TAL1 ZNF316 BHLHE40 SPI1 MAX POLR2A HSALNG0136967 YY2 SMS MBTPS2 piR-55194-429 PHEX
GH0XJ021958 Enhancer 0.8 Ensembl ENCODE 5.8 +121.5 121528 7.1 SMAD4 TAL1 RARA ZBTB48 POLR2A ZNF384 TCF12 ZNF362 HDGF RFX1 SMS YY2 MBTPS2 piR-61945-525 HSALNG0136967 PHEX
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MBTPS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for MBTPS2

Top Transcription factor binding sites by QIAGEN in the MBTPS2 gene promoter:
  • AML1a
  • GCNF
  • GCNF-1
  • GCNF-2
  • IRF-1
  • NRSF form 1
  • NRSF form 2
  • STAT1
  • STAT1alpha
  • STAT1beta

Genomic Locations for MBTPS2 Gene

Latest Assembly
chrX:21,839,617-21,885,423
(GRCh38/hg38)
Size:
45,807 bases
Orientation:
Plus strand

Previous Assembly
chrX:21,857,735-21,903,541
(GRCh37/hg19 by Entrez Gene)
Size:
45,807 bases
Orientation:
Plus strand

chrX:21,857,754-21,903,542
(GRCh37/hg19 by Ensembl)
Size:
45,789 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

Selected DME Specific Peptides for MBTPS2 Gene

O43462:
  • NGLSISPFHIRWQT
  • DLVLKSSVYFKHSYEDWLE
  • LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLV
  • LALLGILAL
  • FNRAFYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGK

Post-translational modifications for MBTPS2 Gene

  • Glycosylation at Asn337
  • Modification sites at PhosphoSitePlus

Other Protein References for MBTPS2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for MBTPS2 Gene

Gene Families for MBTPS2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins

Protein Domains for MBTPS2 Gene

InterPro:
Blocks:
  • PDZ/DHR/GLGF domain
  • Sterol regulatory element binding protein site 2 protease (M50) signature

Suggested Antigen Peptide Sequences for MBTPS2 Gene

GenScript: Design optimal peptide antigens:
  • Sterol regulatory element-binding proteins intramembrane protease (MBTP2_HUMAN)

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

Function for MBTPS2 Gene

Molecular function for MBTPS2 Gene

UniProtKB/Swiss-Prot Function:
Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:11163209, PubMed:10805775). Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: cleaves SREBPs within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached (PubMed:10805775, PubMed:27380894, PubMed:9659902). Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription (PubMed:10805775, PubMed:27380894, PubMed:9659902). Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:11163209). Involved in intramembrane proteolysis during bone formation (PubMed:27380894).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=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.; EC=3.4.24.85; Evidence={ECO:0000269|PubMed:10805775, ECO:0000269|PubMed:11163209};.

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,IBA 21873635
GO:0005515 protein binding IEA --
GO:0008233 peptidase activity IEA --
GO:0008237 metallopeptidase activity IEA --
GO:0016787 hydrolase 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 Models for research

  • Taconic Biosciences Mouse Models for MBTPS2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBTPS2

No data available for Phenotypes From GWAS Catalog , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MBTPS2 gene
Compartment Confidence
plasma membrane 4
golgi apparatus 4
mitochondrion 3
nucleus 3
cytosol 3
extracellular 2
endoplasmic reticulum 2
cytoskeleton 1
peroxisome 1
endosome 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (2)
  • Mitochondria (2)
  • Nucleoplasm (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for MBTPS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000139 Golgi membrane TAS --
GO:0005737 cytoplasm IBA,IDA 19361614
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with MBTPS2: view

Pathways & Interactions 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
  • SREBP Proteolysis
1 Cell Signaling Technology pathway 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:0006508 proteolysis IEA --
GO:0006629 lipid metabolic process IEA --
GO:0008202 steroid metabolic process IEA --
GO:0008203 cholesterol metabolic process TAS,IEA --
GO:0030968 endoplasmic reticulum unfolded protein response 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

1 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBTPS2

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

Expression for MBTPS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE 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, MaxQB, and MOPED for MBTPS2 Gene



Protein tissue co-expression partners for MBTPS2 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MBTPS2

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.

Evidence on tissue expression from TISSUES for MBTPS2 Gene

  • Nervous system(4.4)
  • Liver(2.6)
  • Kidney(2.1)
  • Adrenal gland(2.1)
  • Muscle(2.1)
  • Intestine(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for MBTPS2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • outer ear
  • scalp
  • skull
  • tooth
Thorax:
  • chest wall
  • clavicle
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • abdominal wall
  • intestine
  • kidney
  • large intestine
Pelvis:
  • pelvis
  • placenta
  • testicle
  • ureter
  • urinary bladder
  • uterus
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • nail
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • hair
  • peripheral nervous system
  • skin
  • spinal column
  • sweat gland
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with MBTPS2: view

Primer products for research

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
Chimpanzee
(Pan troglodytes)
Mammalia MBTPS2 29 30
  • 98.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia MBTPS2 29 30
  • 93.9 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia MBTPS2 29 30
  • 93.15 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Mbtps2 29 16 30
  • 92.23 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Mbtps2 29
  • 91.97 (n)
Oppossum
(Monodelphis domestica)
Mammalia MBTPS2 30
  • 74 (a)
OneToOne
Chicken
(Gallus gallus)
Aves MBTPS2 29 30
  • 73.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia MBTPS2 30
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia mbtps2 29
  • 68.49 (n)
Str.20122 29
Zebrafish
(Danio rerio)
Actinopterygii mbtps2 29 30
  • 63.43 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta S2P 29 30 31
  • 44.94 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011819 29
  • 41.53 (n)
Worm
(Caenorhabditis elegans)
Secernentea Y56A3A.2 29 30
  • 45.75 (n)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons AT4G20310 29
  • 42.68 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 37 (a)
OneToOne
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.11616 29
Species where no ortholog for MBTPS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for MBTPS2: view image
Alliance of Genome Resources:
Additional Orthologs for MBTPS2

Paralogs for MBTPS2 Gene

No data available for Paralogs for MBTPS2 Gene

Variants for MBTPS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for MBTPS2 Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
1029415 Uncertain Significance: Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked 21,843,218(+) G/A
NM_015884.4(MBTPS2):c.124G>A (p.Gly42Arg)
MISSENSE
1029416 Uncertain Significance: IFAP syndrome with or without BRESHECK syndrome 21,851,586(+) A/C
NM_015884.4(MBTPS2):c.516A>C (p.Glu172Asp)
MISSENSE
931186 Uncertain Significance: IFAP syndrome with or without BRESHECK syndrome 21,843,213(+) A/C
NM_015884.4(MBTPS2):c.119A>C (p.Asn40Thr)
MISSENSE
931207 Uncertain Significance: IFAP syndrome with or without BRESHECK syndrome 21,882,615(+) C/T
NM_015884.4(MBTPS2):c.1520C>T (p.Ala507Val)
MISSENSE
992371 Uncertain Significance: Osteogenesis imperfecta, type 19 21,843,269(+) C/T
NM_015884.4(MBTPS2):c.175C>T (p.Arg59Cys)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for MBTPS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
esv2740003 CNV deletion 23290073
nsv476830 CNV novel sequence insertion 20440878

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)

Additional Variant Information for MBTPS2 Gene

Human Gene Mutation Database (HGMD)
MBTPS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MBTPS2
Leiden Open Variation Database (LOVD)
MBTPS2

SNP Genotyping and Copy Number Assays for research

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

Disorders for MBTPS2 Gene

MalaCards: The human disease database

(27) MalaCards diseases for MBTPS2 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- 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 variants 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 variants 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 variants affecting the gene represented in this entry.
  • Osteogenesis imperfecta 19 (OI19) [MIM:301014]: An X-linked form of osteogenesis imperfecta, a connective tissue disorder characterized by low bone mass, bone fragility and susceptibility to fractures after minimal trauma. Disease severity ranges from very mild forms without fractures to intrauterine fractures and perinatal lethality. Extraskeletal manifestations, which affect a variable number of patients, are dentinogenesis imperfecta, hearing loss, and blue sclerae. OI19 is characterized by prenatal fractures, short stature, white sclerae, variable scoliosis and pectal deformity, striking tibial anterior angulation and generalized osteopenia. {ECO:0000269 PubMed:27380894}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for MBTPS2

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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 JT (Human mutation 2010) 2 3 4 72
  2. MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. (PMID: 27380894) Lindert U … Shotelersuk V (Nature communications 2016) 3 4 72
  3. A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome. (PMID: 22931912) Haghighi A … Kelsell DP (The Journal of investigative dermatology 2013) 3 4 72
  4. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. (PMID: 19361614) Oeffner F … Grzeschik KH (American journal of human genetics 2009) 3 4 72
  5. Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease. (PMID: 10805775) Ye J … Brown MS (Proceedings of the National Academy of Sciences of the United States of America 2000) 3 4 22

Products for MBTPS2 Gene

Sources for MBTPS2 Gene