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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
External Ids for MBTPS2 Gene
- HGNC: 15455
- Entrez Gene: 51360
- Ensembl: ENSG00000012174
- OMIM: 300294
- UniProtKB: O43462
Previous HGNC Symbols for MBTPS2 Gene
- KFSD
Previous GeneCards Identifiers for MBTPS2 Gene
- GC0XP020460
- GC0XP021059
- GC0XP021219
- GC0XP021617
- GC0XP021767
- GC0XP019598
- GC0XP021857
Summaries 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 Palmoplantar Keratoderma, Mutilating, With Periorificial Keratotic Plaques, X-Linked. Among its related pathways are Lipoprotein metabolism and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity.
UniProtKB/Swiss-Prot Summary for MBTPS2 Gene
-
Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves 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. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription (PubMed:9659902, PubMed:27380894). Involved in RIP-mediated regulation of bone formation (PubMed:27380894).
Additional gene information for MBTPS2 Gene
- HGNC(15455)
- Entrez Gene(51360)
- Ensembl(ENSG00000012174)
- OMIM(300294)
- UniProtKB(O43462)
- Open Targets Platform(ENSG00000012174)
- Monarch Initiative
- Search for MBTPS2 at DataMed
- Search for MBTPS2 at HumanCyc
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 | 600.7 | +0.4 | 384 | 2.4 | SP1 HNRNPL GATAD2A ZNF629 TFE3 SIX5 NFKBIZ ZNF692 RCOR2 POLR2A | ENSG00000275681 MBTPS2 YY2 | |
| GH0XJ021971 | Enhancer | 0.6 | ENCODE | 12.8 | +133.7 | 133684 | 4 | FOXA1 CEBPB CTBP1 ZNF585B CTCF ZNF217 CUX1 IKZF1 ESR1 GATA3 | SMS MBTPS2 YY2 piR-55194-429 piR-61945-525 PHEX | |
| GH0XJ021929 | Enhancer | 0.6 | FANTOM5 | 10.9 | +90.4 | 90385 | 0.2 | ZSCAN4 ZNF148 ZEB1 ZIK1 ZNF662 ATF2 KLF13 SALL2 HIC1 FEZF1 | lnc-SMS-4 YY2 MBTPS2 lnc-SMS-3 SMS | |
| GH0XJ021989 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 4.5 | +154.1 | 154084 | 11 | FOXA1 IKZF2 PKNOX1 TCF12 CEBPB DPF2 HMBOX1 RELB RUNX3 NR3C1 | YY2 SMS MBTPS2 piR-55194-429 PHEX piR-61945-525 | |
| GH0XJ021975 | Enhancer | 0.4 | ENCODE | 12.8 | +136.1 | 136100 | 0.8 | CTCF FOXA1 RAD21 ZNF654 | MBTPS2 piR-55194-429 piR-61945-525 SMS 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
Genomic Locations for MBTPS2 Gene
- chrX:21,839,617-21,885,423
- (GRCh38/hg38)
- Size:
- 45,807 bases
- Orientation:
- Plus strand
- chrX:21,857,656-21,903,542
- (GRCh37/hg19)
- 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:
-
- Xp22.12 by HGNC
- Xp22.12 by Entrez Gene
- Xp22.12 by Ensembl
MBTPS2 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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
- 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
Protein Expression for MBTPS2 Gene
Selected DME Specific Peptides for MBTPS2 Gene
- O43462:
-
- NGLSISPFHIRWQT
- DLVLKSSVYFKHSYEDWLE
- LLPVILLPFYYTGVGVLITEVAEDSPAIGPRGLFVGDLV
- LALLGILAL
- FNRAFYSWGRRKARMLYQWFNFGMVFGVIAMFSSFFLLGK
Post-translational modifications for MBTPS2 Gene
Other Protein References for MBTPS2 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Creative Diagnostics Anti-MBTPS2 monoclonal antibody
- Creative Biolabs Mouse Anti-MBTPS2 Recombinant Antibody (CBFYM-0598)
-
Custom Antibody ServicesOriGene Antibodies for MBTPS2
- Novus Biologicals Antibodies for MBTPS2
-
Abcam antibodies for MBTPS2
- Invitrogen Antibodies for MBTPS2 (AFLGC-MBTPS2)
- antibodies-online: Show 14 available MBTPS2 Antibodies ranked by validation data
- Compare Top MBTPS2 Antibodies
-
Recommended
-
Biorbyt antibodies for MBTPS2
-
Santa Cruz Biotechnology (SCBT) Antibodies for MBTPS2
Protein Products
-
OriGene Purified Proteins for MBTPS2
- Search Origene for MassSpec and Protein Over-expression Lysates for MBTPS2
- Origene Custom Protein Services for MBTPS2
-
Abcam proteins for MBTPS2
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
- ProtoNet:
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- Family:
-
- Belongs to the peptidase M50A family.
Function for MBTPS2 Gene
Molecular function for MBTPS2 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in regulated intramembrane proteolysis (RIP) that is the cleavage of membrane-spanning regulatory proteins by proteases within the plane of the membrane. It cleaves 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. Mature N-terminal fragments shuttle to the nucleus and activate gene transcription (PubMed:9659902, PubMed:27380894). Involved in RIP-mediated regulation of 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;.
Enzyme Numbers (IUBMB) 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 | -- |
Phenotypes for MBTPS2 Gene
- GenomeRNAi human phenotypes for MBTPS2:
Animal Model Products
-
Taconic Biosciences Mouse Models for MBTPS2
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MBTPS2 - Select products 50% OFF >
- * MBTPS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MBTPS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MBTPS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MBTPS2
miRNA for MBTPS2 Gene
- miRTarBase miRNAs that target MBTPS2
-
- hsa-miR-1226-3p (MIRT036430)
- mmu-miR-342-3p (MIRT576995)
- mmu-miR-377-3p (MIRT576996)
- mmu-miR-684 (MIRT576997)
- mmu-miR-384-3p (MIRT576998)
- mmu-miR-107-3p (MIRT582493)
- mmu-miR-1906 (MIRT582494)
- mmu-miR-103-3p (MIRT582495)
- mmu-miR-3102-3p (MIRT582496)
- mmu-miR-3098-3p (MIRT593219)
- mmu-miR-1904 (MIRT593220)
- hsa-miR-519e-5p (MIRT721926)
- hsa-miR-515-5p (MIRT721927)
- hsa-miR-1256 (MIRT721928)
- hsa-miR-5695 (MIRT721929)
- hsa-miR-519d-5p (MIRT721930)
- hsa-miR-205-3p (MIRT721931)
- hsa-miR-6796-3p (MIRT721932)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MBTPS2
- Browse OriGene Inhibitory RNA Products For MBTPS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBTPS2
Clone Products
- Applied Biological Materials (abm): Clones for MBTPS2 - Select products 50% OFF >
- * MBTPS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MBTPS2
- Addgene plasmids for MBTPS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MBTPS2
Cell Line Products
-
Horizon Cell Lines 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.
| Compartment | Confidence |
|---|---|
| endoplasmic reticulum | 5 |
| plasma membrane | 4 |
| golgi apparatus | 4 |
| mitochondrion | 3 |
| nucleus | 3 |
| cytosol | 3 |
| extracellular | 2 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| endosome | 1 |
| lysosome | 1 |
- Cytosol (2)
- Mitochondria (2)
- Nucleoplasm (2)
| 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 | -- |
Pathways & Interactions for MBTPS2 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Lipoprotein metabolism | ||
| 2 | Unfolded Protein Response (UPR) | ||
| 3 | Metabolism |
.40
|
|
| 4 | Translational Control | ||
| 5 | Protein processing in endoplasmic reticulum | ||
Pathways by source for MBTPS2 Gene
1 BioSystems pathway for MBTPS2 Gene
9 Reactome pathways for MBTPS2 Gene
1 KEGG pathway for MBTPS2 Gene
1 Qiagen pathway for MBTPS2 Gene
- SREBP Proteolysis
1 Cell Signaling Technology pathway for MBTPS2 Gene
Interacting Proteins for MBTPS2 Gene
GPS-Prot Interaction Network for MBTPS2
| 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 | -- |
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 :
-
- ENST00000365779 4457 nts (view in UCSC)
- ENST00000379484 4446 nts (view in UCSC)
- ENST00000465888 1862 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for MBTPS2 - Select products 50% OFF >
- * MBTPS2 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for MBTPS2
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for MBTPS2
-
Santa Cruz Biotechnology (SCBT) CRISPR for MBTPS2
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for MBTPS2
- Browse OriGene Inhibitory RNA Products For MBTPS2
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for MBTPS2
Clone Products
- Applied Biological Materials (abm): Clones for MBTPS2 - Select products 50% OFF >
- * MBTPS2 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for MBTPS2
- Addgene plasmids for MBTPS2
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for MBTPS2
| 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
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for MBTPS2
SOURCE GeneReport for Unigene cluster for MBTPS2 Gene:
Hs.443490mRNA 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(2.8)
- Skin(2.3)
- Kidney(2.3)
- Muscle(2.2)
- Intestine(2.2)
- Adrenal gland(2.2)
- Heart(2.1)
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
Primer Products
-
OriGene qPCR primer pairs for MBTPS2
-
OriGene qPCR primer pairs and template standards for MBTPS2
Gene Expression Assay 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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | MBTPS2 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | MBTPS2 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | MBTPS2 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Mbtps2 30 17 31 |
|
OneToOne | |
| Rat (Rattus norvegicus) |
Mammalia | Mbtps2 30 |
|
||
| Oppossum (Monodelphis domestica) |
Mammalia | MBTPS2 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | MBTPS2 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | MBTPS2 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | mbtps2 30 |
|
||
| Str.20122 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | mbtps2 30 31 |
|
OneToOne | |
| Fruit Fly (Drosophila melanogaster) |
Insecta | S2P 30 31 32 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011819 30 |
|
||
| Worm (Caenorhabditis elegans) |
Secernentea | Y56A3A.2 30 31 |
|
OneToOne | |
| Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G20310 30 |
|
||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne | |
| Sea Vase (Ciona intestinalis) |
Ascidiacea | Cin.11616 30 |
|
- 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
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 |
|---|---|---|---|---|---|
| 707859 | Benign: not provided | 21,845,354(+) | G/A | SYNONYMOUS_VARIANT | |
| 719453 | Likely Benign: not provided | 21,868,537(+) | G/A | SYNONYMOUS_VARIANT | |
| 732747 | Likely Benign: not provided | 21,853,472(+) | G/T | SYNONYMOUS_VARIANT | |
| 736432 | Benign: not provided | 21,843,312(+) | A/G | MISSENSE_VARIANT | |
| 739634 | Benign: not provided | 21,853,472(+) | G/A | SYNONYMOUS_VARIANT |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv2740003 | CNV | deletion | 23290073 |
| nsv476830 | CNV | novel sequence insertion | 20440878 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MBTPS2 Gene
Disorders for MBTPS2 Gene
(38) MalaCards diseases for MBTPS2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| ifap syndrome with or without bresheck syndrome |
|
|
| palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, x-linked |
|
|
| keratosis follicularis spinulosa decalvans, x-linked |
|
|
| osteogenesis imperfecta, type xix |
|
|
| keratosis follicularis spinulosa decalvans |
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Search MBTPS2 in MalaCards
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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.
- 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 mutations affecting the gene represented in this entry.
Additional Disease Information for MBTPS2
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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No data available for Genatlas for MBTPS2 Gene
Publications for MBTPS2 Gene
- Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2. (PMID: 20672378) Aten E … den Dunnen JT (Human mutation 2010) 2 3 4
- 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 23
- Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs. (PMID: 9659902) Rawson RB … Goldstein JL (Molecular cell 1997) 2 3 4
- MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta. (PMID: 27380894) Lindert U … Shotelersuk V (Nature communications 2016) 3 4
- 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
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Products for MBTPS2 Gene
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