Free for academic non-profit institutions. Other users need a Commercial license
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]
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 Metabolism of proteins and Sterol Regulatory Element-Binding Proteins (SREBP) signalling. Gene Ontology (GO) annotations related to this gene include metalloendopeptidase activity.
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 | TBP MXD4 SP1 SIX5 NR2C1 MNT DEK SMAD5 IRF2 ZFP64 | ENSG00000275681 MBTPS2 YY2 | |
GH0XJ021971 | Enhancer | 0.6 | ENCODE | 12.8 | +133.7 | 133684 | 4 | ZNF217 ELF1 CTCF CUX1 CTBP1 ZNF585B SPI1 TCF7L2 SMARCE1 FOXA1 | SMS MBTPS2 YY2 HSALNG0136967 piR-61945-525 PHEX | |
GH0XJ021975 | Enhancer | 0.4 | ENCODE | 12.8 | +136.1 | 136100 | 0.8 | CTCF RAD21 SMC3 ZNF654 | MBTPS2 HSALNG0136967 piR-61945-525 SMS PHEX | |
GH0XJ021989 | Enhancer | 1.2 | FANTOM5 Ensembl ENCODE | 4.5 | +154.4 | 154384 | 10.4 | CEBPB GABPA TAL1 ZNF316 SPI1 BHLHE40 POLR2A MAFK MAX ZBTB33 | HSALNG0136967 YY2 SMS MBTPS2 piR-55194-429 PHEX | |
GH0XJ021958 | Enhancer | 0.8 | Ensembl ENCODE | 5.8 | +121.5 | 121528 | 7.1 | SMAD4 TAL1 RARA POLR2A ZBTB48 TCF12 ZNF362 ZNF384 TEAD4 HDGF | SMS YY2 MBTPS2 piR-61945-525 HSALNG0136967 PHEX |
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 | -- |
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 | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Lipoprotein metabolism | ||
2 | Unfolded Protein Response (UPR) | ||
3 | Metabolism |
.40
|
|
4 | Translational Control | ||
5 | Protein processing in endoplasmic reticulum |
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 | -- |
ExUns: | 1 | ^ | 2a | · | 2b | ^ | 3 | ^ | 4 | ^ | 5a | · | 5b | ^ | 6 | ^ | 7a | · | 7b | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||||||||||||||||||||||
SP2: | |||||||||||||||||||||||||||||
SP3: | |||||||||||||||||||||||||||||
SP4: | - | ||||||||||||||||||||||||||||
SP5: |
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 |
|
SNP ID | Clinical significance and condition | Chr 0X pos | Variation | AA Info | Type |
---|---|---|---|---|---|
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 | |
rs1057524361 | Uncertain Significance: not provided | 21,868,491(+) |
C/A NM_015884.4(MBTPS2):c.695C>A (p.Ala232Glu) |
MISSENSE | |
rs1064797361 | Uncertain Significance: not provided | 21,845,166(+) |
G/C NM_015884.4(MBTPS2):c.225-5G>C |
INTRON |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
esv2740003 | CNV | deletion | 23290073 |
nsv476830 | CNV | novel sequence insertion | 20440878 |
Disorder | Aliases | PubMed IDs |
---|---|---|
ifap syndrome 1, with or without bresheck syndrome |
|
|
olmsted syndrome, x-linked |
|
|
keratosis follicularis spinulosa decalvans, x-linked |
|
|
osteogenesis imperfecta, type xix |
|
|
keratosis follicularis spinulosa decalvans |
|