Details for: MBTPS2

Gene ID: 51360

Symbol: MBTPS2

Ensembl ID: ENSG00000012174

Description: membrane bound transcription factor peptidase, site 2

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 130.3801
    Cell Significance Index: -20.2800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 78.4172
    Cell Significance Index: -19.8900
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 44.1517
    Cell Significance Index: -20.8500
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 16.5537
    Cell Significance Index: -20.4100
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 7.6824
    Cell Significance Index: -20.5800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 5.2027
    Cell Significance Index: -20.5300
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.9390
    Cell Significance Index: -15.1700
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 3.9112
    Cell Significance Index: -8.5600
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.4148
    Cell Significance Index: 269.2400
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0567
    Cell Significance Index: 28.3200
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6981
    Cell Significance Index: 138.5500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6421
    Cell Significance Index: 579.7500
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6227
    Cell Significance Index: 124.9200
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 0.5877
    Cell Significance Index: 169.1000
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.5354
    Cell Significance Index: 32.1400
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4995
    Cell Significance Index: 54.3400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.4675
    Cell Significance Index: 54.4900
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4107
    Cell Significance Index: 66.8000
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3785
    Cell Significance Index: 135.7600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.3281
    Cell Significance Index: 18.4100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.3200
    Cell Significance Index: 8.0000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2750
    Cell Significance Index: 17.3300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2306
    Cell Significance Index: 15.9500
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 0.2236
    Cell Significance Index: 4.7800
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.2216
    Cell Significance Index: 17.0100
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.2194
    Cell Significance Index: 3.5200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2177
    Cell Significance Index: 21.5400
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.1898
    Cell Significance Index: 2.5900
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1812
    Cell Significance Index: 125.3200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1786
    Cell Significance Index: 3.8700
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 0.1686
    Cell Significance Index: 3.2900
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.1506
    Cell Significance Index: 6.8300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1465
    Cell Significance Index: 20.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.1295
    Cell Significance Index: 70.7500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.1217
    Cell Significance Index: 229.1300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1181
    Cell Significance Index: 3.3000
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1069
    Cell Significance Index: 3.0800
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.0980
    Cell Significance Index: 1.6800
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.0967
    Cell Significance Index: 4.5100
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.0926
    Cell Significance Index: 16.6900
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.0882
    Cell Significance Index: 4.5800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.0879
    Cell Significance Index: 3.8900
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0784
    Cell Significance Index: 4.8200
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: 0.0747
    Cell Significance Index: 5.0200
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.0663
    Cell Significance Index: 2.5100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0636
    Cell Significance Index: 10.8600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.0502
    Cell Significance Index: 1.2900
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0421
    Cell Significance Index: 26.7300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0384
    Cell Significance Index: 1.3500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0352
    Cell Significance Index: 54.1400
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0337
    Cell Significance Index: 62.1900
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0295
    Cell Significance Index: 13.0300
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.0284
    Cell Significance Index: 3.4900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0202
    Cell Significance Index: 9.1900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0080
    Cell Significance Index: 10.9100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.0064
    Cell Significance Index: 0.1400
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0024
    Cell Significance Index: 0.3100
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0051
    Cell Significance Index: -3.7900
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0081
    Cell Significance Index: -5.0400
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0082
    Cell Significance Index: -0.2200
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0136
    Cell Significance Index: -10.0100
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0186
    Cell Significance Index: -2.7100
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0196
    Cell Significance Index: -11.0400
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0222
    Cell Significance Index: -16.7800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0501
    Cell Significance Index: -10.5500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0618
    Cell Significance Index: -6.3100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0667
    Cell Significance Index: -1.4200
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.0721
    Cell Significance Index: -8.5000
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0834
    Cell Significance Index: -9.5600
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.0925
    Cell Significance Index: -11.9500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1208
    Cell Significance Index: -6.3400
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1220
    Cell Significance Index: -13.9300
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1410
    Cell Significance Index: -14.6800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1434
    Cell Significance Index: -10.1400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.1438
    Cell Significance Index: -9.2800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1571
    Cell Significance Index: -9.6300
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.1750
    Cell Significance Index: -13.0400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.1892
    Cell Significance Index: -8.8900
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.2090
    Cell Significance Index: -5.6900
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: -0.2113
    Cell Significance Index: -3.1200
  • Cell Name: glutamatergic neuron (CL0000679)
    Fold Change: -0.2166
    Cell Significance Index: -2.3600
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.2281
    Cell Significance Index: -5.4700
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.2342
    Cell Significance Index: -18.5500
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.2592
    Cell Significance Index: -3.0900
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2620
    Cell Significance Index: -6.8900
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.2636
    Cell Significance Index: -4.4400
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -0.2912
    Cell Significance Index: -3.9300
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.3088
    Cell Significance Index: -10.7300
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.3242
    Cell Significance Index: -6.8800
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.3392
    Cell Significance Index: -10.8700
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: -0.3642
    Cell Significance Index: -5.2300
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -0.3717
    Cell Significance Index: -9.0700
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.3729
    Cell Significance Index: -10.6400
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.3746
    Cell Significance Index: -6.2700
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.3821
    Cell Significance Index: -12.1700
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.3878
    Cell Significance Index: -5.9000
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4078
    Cell Significance Index: -13.3500
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.4184
    Cell Significance Index: -5.1900
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.4188
    Cell Significance Index: -14.6700
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.4224
    Cell Significance Index: -8.4800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** MBTPS2 is a membrane-bound protein belonging to the peptidase family, specifically a type II transmembrane peptidase. It is characterized by its ability to cleave and activate various transcription factors and proteins involved in lipid metabolism and cell signaling pathways. The protein contains a membrane-bound domain and a cytoplasmic domain, which allows it to interact with both intracellular and extracellular molecules. Key features of MBTPS2 include: 1. **Transmembrane domain**: MBTPS2 has a hydrophobic transmembrane domain that anchors the protein to the plasma membrane, allowing it to interact with lipoproteins and other extracellular molecules. 2. **Cytoplasmic domain**: The cytoplasmic domain of MBTPS2 contains a serine protease motif that is involved in the cleavage and activation of transcription factors and proteins. 3. **Lipid metabolism regulation**: MBTPS2 plays a crucial role in regulating lipid metabolism by cleaving and activating SREBP, a transcription factor involved in cholesterol biosynthesis. 4. **Unfolded protein response**: MBTPS2 is also involved in the unfolded protein response (UPR), a cellular response to endoplasmic reticulum stress. **Pathways and Functions** MBTPS2 is involved in various cellular pathways, including: 1. **Lipid metabolism**: MBTPS2 regulates lipid metabolism by cleaving and activating SREBP, which in turn regulates cholesterol biosynthesis. 2. **Cholesterol biosynthesis**: MBTPS2 plays a crucial role in regulating cholesterol biosynthesis by interacting with SREBP and other transcription factors. 3. **Unfolded protein response**: MBTPS2 is involved in the UPR, a cellular response to endoplasmic reticulum stress. 4. **Cellular responses to stimuli**: MBTPS2 is also involved in cellular responses to stimuli, including the assembly of active lipoprotein complexes and the regulation of plasma lipoprotein remodeling. **Clinical Significance** MBTPS2 has been implicated in various diseases, including: 1. **Hyperlipidemia**: Mutations in MBTPS2 have been associated with hyperlipidemia, a condition characterized by elevated levels of lipids in the blood. 2. **Atherosclerosis**: MBTPS2 has been implicated in the development of atherosclerosis, a condition characterized by the buildup of lipids in the blood vessels. 3. **Neurodegenerative diseases**: MBTPS2 has been implicated in neurodegenerative diseases, including Alzheimer's disease and Parkinson's disease, which are characterized by the accumulation of lipids and proteins in the brain. In conclusion, MBTPS2 is a critical regulator of lipid metabolism and cholesterol biosynthesis, and its dysregulation has been implicated in various diseases. Further research is needed to fully understand the role of MBTPS2 in maintaining cellular homeostasis and responding to endoplasmic reticulum stress.

Genular Protein ID: 4095417770

Symbol: MBTP2_HUMAN

Name: N/A

UniProtKB Accession Codes:

O43462 Q9UM70 Q9UMD3

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CTD 1 ChEBI 3 ChiTaRS 1 DNASU 1 DisGeNET 1 EC 1 EMBL 3 Ensembl 1 ExpressionAtlas 1 GO 17 Gene3D 1 GeneCards 1 GeneTree 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MEROPS 1 MIM 9 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 7 OrthoDB 1 PANTHER 2 PRINTS 1 PRO 1 PROSITE 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 RNAct 1 Reactome 5 RefSeq 1 SIGNOR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9659902

Title: Complementation cloning of S2P, a gene encoding a putative metalloprotease required for intramembrane cleavage of SREBPs.

PubMed ID: 9659902

DOI: 10.1016/s1097-2765(00)80006-4

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 10419520

Title: Membrane topology of S2P, a protein required for intramembranous cleavage of sterol regulatory element-binding proteins.

PubMed ID: 10419520

DOI: 10.1074/jbc.274.31.21973

PubMed ID: 11163209

Title: ER stress induces cleavage of membrane-bound ATF6 by the same proteases that process SREBPs.

PubMed ID: 11163209

DOI: 10.1016/s1097-2765(00)00133-7

PubMed ID: 10805775

Title: Asparagine-proline sequence within membrane-spanning segment of SREBP triggers intramembrane cleavage by site-2 protease.

PubMed ID: 10805775

DOI: 10.1073/pnas.97.10.5123

PubMed ID: 16417584

Title: Cleavage of the membrane-bound transcription factor OASIS in response to endoplasmic reticulum stress.

PubMed ID: 16417584

DOI: 10.1111/j.1471-4159.2005.03596.x

PubMed ID: 19361614

Title: IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response.

PubMed ID: 19361614

DOI: 10.1016/j.ajhg.2009.03.014

PubMed ID: 20672378

Title: Keratosis follicularis spinulosa decalvans is caused by mutations in MBTPS2.

PubMed ID: 20672378

DOI: 10.1002/humu.21335

PubMed ID: 22931912

Title: A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome.

PubMed ID: 22931912

DOI: 10.1038/jid.2012.289

PubMed ID: 27380894

Title: MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta.

PubMed ID: 27380894

DOI: 10.1038/ncomms11920

Sequence Information:

  • Length: 519
  • Mass: 57444
  • Checksum: 247D69E0FD7747BD
  • Sequence:
    • MIPVSLVVVV VGGWTVVYLT DLVLKSSVYF KHSYEDWLEN NGLSISPFHI RWQTAVFNRA 
FYSWGRRKAR MLYQWFNFGM VFGVIAMFSS FFLLGKTLMQ TLAQMMADSP SSYSSSSSSS 
SSSSSSSSSS SSSSSSLHNE QVLQVVVPGI NLPVNQLTYF FTAVLISGVV HEIGHGIAAI 
REQVRFNGFG IFLFIIYPGA FVDLFTTHLQ LISPVQQLRI FCAGIWHNFV LALLGILALV 
LLPVILLPFY YTGVGVLITE VAEDSPAIGP RGLFVGDLVT HLQDCPVTNV QDWNECLDTI 
AYEPQIGYCI SASTLQQLSF PVRAYKRLDG STECCNNHSL TDVCFSYRNN FNKRLHTCLP 
ARKAVEATQV CRTNKDCKKS SSSSFCIIPS LETHTRLIKV KHPPQIDMLY VGHPLHLHYT 
VSITSFIPRF NFLSIDLPVV VETFVKYLIS LSGALAIVNA VPCFALDGQW ILNSFLDATL 
TSVIGDNDVK DLIGFFILLG GSVLLAANVT LGLWMVTAR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.