======= MBTPS2 =======


== Gene Information ==
  * **<color #00a2e8>Official Symbol</color>**: MBTPS2
  * **<color #00a2e8>Official Name</color>**: membrane bound transcription factor peptidase, site 2
  * **<color #00a2e8>Aliases and Previous Symbols</color>**: N/A
  * **<color #00a2e8>Entrez ID</color>**: [[https://www.ncbi.nlm.nih.gov/gene/?term=51360|51360]]
  * **<color #00a2e8>UniProt</color>**: [[https://www.uniprot.org/uniprot/O43462|O43462]]
  * **<color #00a2e8>Interactions</color>**: [[https://thebiogrid.org/search.php?search=MBTPS2&organism=9606|BioGRID]]
  * **<color #00a2e8>PubMed articles</color>**: [[https://www.ncbi.nlm.nih.gov/pubmed/?term=gene%20MBTPS2|Open PubMed]]
  * **<color #00a2e8>OMIM</color>**: [[https://omim.org/entry/300294|Open OMIM]]

== Function Summary ==
  * **<color #00a2e8>Entrez Summary</color>**:  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]. 
  * **<color #00a2e8>UniProt Summary</color>**:  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.

<button type='primary' size='sm' modal='Pfam_Domains'>Pfam Domains</button>
<button type='primary' size='sm' modal='GO_terms'>GO Terms</button>


<modal id='Pfam_Domains' size='lg' title='Pfam Domains'>
|Peptidase M50|
</modal>

<modal id='GO_terms' size='lg' title='GO Terms'>
|ATF6-mediated unfolded protein response|
|positive regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress|
|bone maturation|
|membrane protein intracellular domain proteolysis|
|animal organ maturation|
|positive regulation of transcription from RNA polymerase II promoter in response to stress|
|ER-nucleus signaling pathway|
|membrane protein proteolysis|
|regulation of cholesterol biosynthetic process|
|regulation of sterol biosynthetic process|
|regulation of cholesterol metabolic process|
|regulation of alcohol biosynthetic process|
|regulation of steroid biosynthetic process|
|metalloendopeptidase activity|
|endoplasmic reticulum unfolded protein response|
|regulation of steroid metabolic process|
|cholesterol metabolic process|
|regulation of transcription from RNA polymerase II promoter in response to stress|
|regulation of DNA-templated transcription in response to stress|
|cellular response to unfolded protein|
|secondary alcohol metabolic process|
|sterol metabolic process|
|anatomical structure maturation|
|cellular response to topologically incorrect protein|
|response to unfolded protein|
|response to topologically incorrect protein|
|regulation of lipid biosynthetic process|
|bone development|
|developmental maturation|
|response to endoplasmic reticulum stress|
|steroid metabolic process|
|positive regulation of DNA-binding transcription factor activity|
|alcohol metabolic process|
|regulation of lipid metabolic process|
|regulation of DNA-binding transcription factor activity|
|regulation of small molecule metabolic process|
|organic hydroxy compound metabolic process|
|skeletal system development|
|Golgi membrane|
|endoplasmic reticulum membrane|
|lipid metabolic process|
|positive regulation of transcription by RNA polymerase II|
|proteolysis|
|positive regulation of transcription, DNA-templated|
|positive regulation of nucleic acid-templated transcription|
|positive regulation of RNA biosynthetic process|
|cellular response to stress|
|positive regulation of RNA metabolic process|
|small molecule metabolic process|
|positive regulation of molecular function|
|positive regulation of nucleobase-containing compound metabolic process|
|positive regulation of macromolecule biosynthetic process|
|positive regulation of cellular biosynthetic process|
|positive regulation of gene expression|
|positive regulation of biosynthetic process|
</modal>
\\

 === CRISPR Data ===
<button type='primary' size='small' modal='Compound_Hit'>Compound Hit</button>
<button type='primary' size='small' modal='Most_Correlated_Genes'>Most Correlated Genes in Chemogenomics</button>
<button type='primary' size='small' modal='Essential_Avana'>Tissues where Essential in the Avana Dataset (DepMap 20Q1)</button>

<modal id='Compound_Hit' size='lg' title='Compound Hit'>
^Screen^Score^
|[[:results:exp226|Cerivastatin 0.15μM R05 exp226]]|-4.04|
|[[:results:exp282|Fluvastatin 2.2μM R06 exp282]]|-3.43|
|[[:results:exp412|THZ531 0.11 to 0.125 to 0.35μM on day4 then day6 R07 exp412]]|-2.79|
|[[:results:exp434|Vemurafenib 6.6μM R08 exp434]]|-2.74|
|[[:results:exp169|BH1 1μM R04 exp169]]|-2.62|
|[[:results:exp236|GSK2606414 1μM R05 exp236]]|-2.61|
|[[:results:exp514|Phorbol-12-myristate-13-acetate 0.57μM R08 exp514]]|-2.45|
|[[:results:exp438|NN-Diethyl-meta-toluamide 500μM R08 exp438]]|-2.37|
|[[:results:exp418|Tunicamycin 0.04μM R07 exp418]]|-2.21|
|[[:results:exp238|Parthenolide 2.5μM R05 exp238]]|-2.2|
|[[:results:exp164|Q15 1 to 2μM on day4 R04 exp164]]|-2.16|
|[[:results:exp293|Myriocin 25μM R06 exp293]]|-2.15|
|[[:results:exp453|B02 10μM R08 exp453]]|-2.07|
|[[:results:exp122|Golgicide-A 4μM R03 exp122]]|-2.07|
|[[:results:exp131|L-74142 5μM R03 exp131]]|-2.03|
|[[:results:exp458|Bisphenol S 100μM R08 exp458]]|-1.89|
|[[:results:exp84|UM0125461 0.74μM R02 exp84]]|-1.89|
|[[:results:exp473|Cincreasin 100μM R08 exp473]]|-1.87|
|[[:results:exp262|Alda-1 10μM R06 exp262]]|-1.84|
|[[:results:exp235|Geldanamycin 0.01μM R05 exp235]]|-1.84|
|[[:results:exp68|Clomiphene 4.4μM R02 exp68]]|-1.83|
|[[:results:exp232|Epothilone-D 0.004 to 0.006μM on day4 R05 exp232]]|-1.83|
|[[:results:exp234|Ethanol 0.01 R05 exp234]]|-1.83|
|[[:results:exp333|All-trans-Retinoic-Acid 8μM R07 exp333]]|-1.78|
|[[:results:exp260|ABT-702 0.1μM R06 exp260]]|-1.71|
|[[:results:exp286|HMS-I2 1μM R06 exp286]]|-1.71|
|[[:results:exp239|PFI-2 4μM R05 exp239]]|-1.7|
|[[:results:exp89|Vemurafenib 6.6μM R02 exp89]]|-1.7|
|[[:results:exp401|SNS-032 25μM R07 exp401]]|1.7|
|[[:results:exp330|5-Azacytidine 2μM R07 exp330]]|1.72|
|[[:results:exp111|R-DABN 8μM R03 exp111]]|1.72|
|[[:results:exp17|DABN 20μM R00 exp17]]|1.73|
|[[:results:exp465|Cannabidiol 13μM R08 exp465]]|1.76|
|[[:results:exp135|MS023 7μM R03 exp135]]|1.76|
|[[:results:exp162|BI-D1870 2μM R04 exp162]]|1.81|
|[[:results:exp360|Genistein 15μM R07 exp360]]|1.82|
|[[:results:exp82|Torin1 0.08μM R02 exp82]]|1.83|
|[[:results:exp478|Doxorubicin 0.02μM R08 exp478]]|1.84|
|[[:results:exp503|Mitomycin-C 0.06μM R08 exp503]]|1.84|
|[[:results:exp241|QNZ 0.01μM R05 exp241]]|1.85|
|[[:results:exp382|Palbociclib 1μM R07 exp382]]|1.87|
|[[:results:exp320|ABT-702 5μM plus CoCl2 18μM R07 exp320]]|1.88|
|[[:results:exp302|35°C R06 exp302]]|1.89|
|[[:results:exp349|Cytochalasin-B 5μM R07 exp349]]|1.91|
|[[:results:exp208|Vinblastine 0.015μM R05 exp208]]|1.91|
|[[:results:exp363|GSK-J4 1-1.25μM to day4 R07 exp363]]|1.92|
|[[:results:exp343|Centrinone 0.5μM R07 exp343]]|1.94|
|[[:results:exp400|Senexin-A 25μM R07 exp400]]|1.96|
|[[:results:exp326|CCT251545 20μM R07 exp326]]|1.98|
|[[:results:exp211|AICAR 240μM R05 exp211]]|2|
|[[:results:exp431|Rotenone 0.07μM R08 exp431]]|2.02|
|[[:results:exp487|Hinokiflavone 12μM R08 exp487]]|2.03|
|[[:results:exp335|Aminopterin 0.005μM R07 exp335]]|2.06|
|[[:results:exp275|Citral 75μM R06 exp275]]|2.06|
|[[:results:exp488|Hippuristanol 0.12μM R08 exp488]]|2.07|
|[[:results:exp108|Vinblastine 0.2μM R03 exp108]]|2.08|
|[[:results:exp33|Rotenone 2μM R00 exp33]]|2.1|
|[[:results:exp346|CoCl2 18μM R07 exp346]]|2.13|
|[[:results:exp467|CAY10603 0.55μM R08 exp467]]|2.14|
|[[:results:exp439|QNZ 0.01μM R08 exp439]]|2.17|
|[[:results:exp515|PU-H71 1μM R08 exp515]]|2.27|
|[[:results:exp450|Artemisinin 50μM R08 exp450]]|2.32|
|[[:results:exp342|Calcium Ionophore 0.4μM R07 exp342]]|2.36|
|[[:results:exp513|ONC212 0.15μM R08 exp513]]|2.37|
|[[:results:exp440|Aphidicolin 0.4μM R08 exp440]]|2.4|
|[[:results:exp301|VER-155008 3.9μM R06 exp301]]|2.4|
|[[:results:exp2|5-Fluorouracil 20μM R00 exp2]]|2.44|
|[[:results:exp433|LJH685 50μM R08 exp433]]|2.46|
|[[:results:exp531|THZ1 0.06μM R08 exp531]]|2.46|
|[[:results:exp93|DABN racemic mixture R03 exp93]]|2.55|
|[[:results:exp472|CI-1040 9.5μM R08 exp472]]|2.56|
|[[:results:exp529|Thimerosal 0.85μM R08 exp529]]|2.58|
|[[:results:exp456|Benzoate 20000μM R08 exp456]]|2.59|
|[[:results:exp536|Vitamin-D3 40μM R08 exp536]]|2.61|
|[[:results:exp441|GSK-J4 1.5μM R08 exp441]]|2.67|
|[[:results:exp264|Arsenate 40μM R06 exp264]]|2.71|
|[[:results:exp216|Erlotinib 10μM R05 exp216]]|2.74|
|[[:results:exp527|Tanespimycin 14μM R08 exp527]]|2.79|
|[[:results:exp126|GSK461364A 0.1μM R03 exp126]]|2.8|
|[[:results:exp97|BI-6727 0.0125μM R03 exp97]]|2.82|
|[[:results:exp96|BI-2536 0.02μM R03 exp96]]|2.85|
|[[:results:exp489|Hippuristanol 0.12μM R08 exp489 no dilution day6]]|2.87|
|[[:results:exp329|Hydroxyurea 100μM R07 exp329]]|2.87|
|[[:results:exp95|BI-2536 0.0042μM R03 exp95]]|3.04|
|[[:results:exp532|TIC10 10μM R08 exp532]]|3.38|
|[[:results:exp502|Milciclib 2μM R08 exp502]]|3.49|
|[[:results:exp451|Atovaquone 15μM R08 exp451]]|3.5|
|[[:results:exp539|42°C R08 exp539]]|3.51|
|[[:results:exp106|UM131593 0.2μM R03 exp106]]|3.51|
|[[:results:exp448|Ammonium tetrathiomolybdate 10μM R08 exp448]]|3.53|
|[[:results:exp416|Tubacin 1.6μM R07 exp416]]|3.55|
</modal>

<modal id='Most_Correlated_Genes' size='lg' title='Most Correlated Genes in Chemogenomics'>
^Gene^Correlation^
|[[:human genes:m:mbtps1|MBTPS1]]|0.698|
|[[:human genes:a:alg6|ALG6]]|0.599|
|[[:human genes:d:dpagt1|DPAGT1]]|0.573|
|[[:human genes:d:dhrsx|DHRSX]]|0.57|
|[[:human genes:s:sec63|SEC63]]|0.552|
|[[:human genes:a:alg1|ALG1]]|0.534|
|[[:human genes:u:uap1|UAP1]]|0.531|
|[[:human genes:a:atxn10|ATXN10]]|0.529|
|[[:human genes:s:sec62|SEC62]]|0.527|
|[[:human genes:s:srd5a3|SRD5A3]]|0.523|
|[[:human genes:p:pmm2|PMM2]]|0.521|
|[[:human genes:r:romo1|ROMO1]]|0.517|
|[[:human genes:a:alg5|ALG5]]|0.517|
|[[:human genes:g:gfpt1|GFPT1]]|0.51|
|[[:human genes:p:ppp6c|PPP6C]]|0.509|
|[[:human genes:a:atp5o|ATP5O]]|0.509|
|[[:human genes:p:pdap1|PDAP1]]|0.507|
|[[:human genes:a:alg8|ALG8]]|0.505|
|[[:human genes:c:ctdnep1|CTDNEP1]]|0.502|
|[[:human genes:t:thg1l|THG1L]]|0.501|
|[[:human genes:s:srp14|SRP14]]|0.497|
|[[:human genes:u:uso1|USO1]]|0.493|
|[[:human genes:a:atp5a1|ATP5A1]]|0.491|
|[[:human genes:d:dohh|DOHH]]|0.486|
|[[:human genes:a:atp5b|ATP5B]]|0.485|
|[[:human genes:b:bap1|BAP1]]|0.484|
|[[:human genes:p:pgm3|PGM3]]|0.484|
|[[:human genes:a:atp5d|ATP5D]]|0.483|
|[[:human genes:a:atp5j|ATP5J]]|0.478|
|[[:human genes:d:dnajc3|DNAJC3]]|0.478|
|[[:human genes:e:eif1|EIF1]]|0.476|
|[[:human genes:c:cbfb|CBFB]]|0.475|
|[[:human genes:p:ppcs|PPCS]]|0.473|
|[[:human genes:s:scap|SCAP]]|0.472|
|[[:human genes:d:dolk|DOLK]]|0.469|
|[[:human genes:c:chka|CHKA]]|0.469|
|[[:human genes:m:mpdu1|MPDU1]]|0.468|
|[[:human genes:g:gtf3c4|GTF3C4]]|0.467|
|[[:human genes:s:supv3l1|SUPV3L1]]|0.467|
|[[:human genes:v:vezt|VEZT]]|0.465|
|[[:human genes:t:triap1|TRIAP1]]|0.464|
|[[:human genes:t:trmt10a|TRMT10A]]|0.461|
|[[:human genes:s:ssb|SSB]]|0.457|
|[[:human genes:d:dpm3|DPM3]]|0.451|
|[[:human genes:e:exoc4|EXOC4]]|0.451|
|[[:human genes:p:polr3c|POLR3C]]|0.447|
|[[:human genes:r:rft1|RFT1]]|0.446|
|[[:human genes:t:trmt61a|TRMT61A]]|0.444|
|[[:human genes:a:alg13|ALG13]]|0.444|
|[[:human genes:a:atp5c1|ATP5C1]]|0.443|
|[[:human genes:k:kiaa1432|KIAA1432]]|0.441|
|[[:human genes:g:get4|GET4]]|0.439|
|[[:human genes:f:fh|FH]]|0.439|
|[[:human genes:r:rpia|RPIA]]|0.438|
|[[:human genes:u:uba5|UBA5]]|0.438|
|[[:human genes:k:kdsr|KDSR]]|0.435|
|[[:human genes:a:alg2|ALG2]]|0.432|
|[[:human genes:u:ube2g2|UBE2G2]]|0.432|
|[[:human genes:i:irf2bp2|IRF2BP2]]|0.431|
|[[:human genes:s:sec16a|SEC16A]]|0.429|
|[[:human genes:a:atp2a2|ATP2A2]]|0.429|
|[[:human genes:r:rnmt|RNMT]]|0.427|
|[[:human genes:e:eny2|ENY2]]|0.427|
|[[:human genes:t:tmem41b|TMEM41B]]|0.427|
|[[:human genes:e:elac2|ELAC2]]|0.426|
|[[:human genes:m:mrpl23|MRPL23]]|0.426|
|[[:human genes:t:tpk1|TPK1]]|0.425|
|[[:human genes:t:tmed10|TMED10]]|0.424|
|[[:human genes:g:gmppb|GMPPB]]|0.424|
|[[:human genes:u:urm1|URM1]]|0.421|
|[[:human genes:a:alg3|ALG3]]|0.42|
|[[:human genes:t:ttc4|TTC4]]|0.42|
|[[:human genes:y:yars2|YARS2]]|0.419|
|[[:human genes:v:vapa|VAPA]]|0.419|
|[[:human genes:e:eef1e1|EEF1E1]]|0.418|
|[[:human genes:o:opa1|OPA1]]|0.417|
|[[:human genes:c:cept1|CEPT1]]|0.417|
|[[:human genes:t:tamm41|TAMM41]]|0.413|
|[[:human genes:m:mrps6|MRPS6]]|0.413|
|[[:human genes:m:mrps33|MRPS33]]|0.412|
|[[:human genes:t:taz|TAZ]]|0.411|
|[[:human genes:p:pggt1b|PGGT1B]]|0.41|
|[[:human genes:m:mrps18a|MRPS18A]]|0.41|
|[[:human genes:k:kiaa0391|KIAA0391]]|0.408|
|[[:human genes:o:oraov1|ORAOV1]]|0.408|
|[[:human genes:m:msto1|MSTO1]]|0.408|
|[[:human genes:d:dnlz|DNLZ]]|0.407|
|[[:human genes:t:trnt1|TRNT1]]|0.406|
|[[:human genes:c:chchd4|CHCHD4]]|0.406|
|[[:human genes:m:med16|MED16]]|0.405|
|[[:human genes:z:zbtb11|ZBTB11]]|0.404|
|[[:human genes:c:c17orf89|C17orf89]]|0.404|
|[[:human genes:t:tufm|TUFM]]|0.404|
|[[:human genes:s:slc25a19|SLC25A19]]|0.403|
|[[:human genes:l:lsm11|LSM11]]|0.401|
|[[:human genes:w:wbscr16|WBSCR16]]|0.4|
|[[:human genes:t:tmem242|TMEM242]]|0.4|
</modal>

<modal id='Essential_Avana' size='lg' title='Tissues where Essential in the Avana Dataset (DepMap 20Q1)'>
Global Fraction of Cell Lines Where Essential: 290/694
^Tissue^Fraction Of Cell Lines Where Essential^
|1290807.0|0/1|
|909776.0|0/1|
|bile duct|13/28|
|blood|19/26|
|bone|10/26|
|breast|10/30|
|central nervous system|17/49|
|cervix|1/4|
|colorectal|8/17|
|esophagus|6/11|
|fibroblast|1/1|
|gastric|5/14|
|kidney|6/18|
|liver|6/19|
|lung|28/72|
|lymphocyte|11/16|
|ovary|8/25|
|pancreas|4/22|
|peripheral nervous system|7/15|
|plasma cell|2/12|
|prostate|1/1|
|skin|9/20|
|soft tissue|5/9|
|thyroid|2/2|
|upper aerodigestive|14/22|
|urinary tract|16/28|
|uterus|0/5|
</modal>

== Essentiality in NALM6  ==
    * **<color #00a2e8>Essentiality Rank</color>**: 3228
    * **<color #00a2e8>Expression level (log2 read counts)</color>**: 4.73 
<button type='primary' size='small' modal='Dist_expr'>Expression Distribution</button>
<modal id='Dist_expr' size='lg' title='MBTPS2 Expression in NALM6 Cells: 4.73'>
{{:chemogenomics:nalm6 dist.png?nolink |}}
</modal>