Mbtps2 (membrane-bound transcription factor peptidase, site 2) - Rat Genome Database

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Pathways
Gene: Mbtps2 (membrane-bound transcription factor peptidase, site 2) Rattus norvegicus
Analyze
Symbol: Mbtps2 (Ensembl: Yy2)
Name: membrane-bound transcription factor peptidase, site 2 (Ensembl:YY2 transcription factor)
RGD ID: 1566171
Description: Human ortholog(s) of this gene implicated in X-linked keratosis follicularis spinulosa decalvans; X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques; ichthyosis follicularis-alopecia-photophobia syndrome 1; and osteogenesis imperfecta type 19. Orthologous to human MBTPS2 (membrane bound transcription factor peptidase, site 2); PARTICIPATES IN sterol regulatory element-binding protein signaling pathway; Endoplasmic Reticulum-associated degradation pathway; INTERACTS WITH 17beta-estradiol; 2,3,7,8-tetrachlorodibenzodioxine; 3,3',5,5'-tetrabromobisphenol A.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: LRRGT00063; membrane-bound transcription factor protease, site 2; membrane-bound transcription factor site-2 protease
RGD Orthologs
Human
Mouse
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Black Rat
Alliance Orthologs
More Info more info ...
Latest Assembly: GRCr8 - GRCr8 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X41,225,956 - 41,290,030 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX41,254,335 - 41,277,701 (+)EnsemblGRCr8
mRatBN7.2X37,410,914 - 37,461,130 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX37,410,811 - 37,464,430 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX38,609,601 - 38,657,263 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X42,076,796 - 42,124,460 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X39,761,507 - 39,809,169 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X40,258,933 - 40,309,047 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX40,258,493 - 40,310,563 (+)Ensemblrn6Rnor6.0
Rnor_5.0X40,569,195 - 40,619,334 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X58,708,065 - 58,757,022 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
CeleraX38,039,020 - 38,086,670 (+)NCBICelera
Cytogenetic MapXq21NCBI
JBrowse:




Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA,ISO)
endomembrane system  (IEA)
membrane  (IEA)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Gaudet P, etal., Brief Bioinform. 2011 Sep;12(5):449-62. doi: 10.1093/bib/bbr042. Epub 2011 Aug 27.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. Evolutionary conservation and adaptation in the mechanism that regulates SREBP action: what a long, strange tRIP it's been. Osborne TF and Espenshade PJ, Genes Dev. 2009 Nov 15;23(22):2578-91.
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. GOA pipeline RGD automated data pipeline
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. Comprehensive gene review and curation RGD comprehensive gene curation
9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.
Additional References at PubMed
PMID:11163209   PMID:19361614   PMID:27380894   PMID:33738762  


Genomics

Comparative Map Data
Mbtps2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X41,225,956 - 41,290,030 (+)NCBIGRCr8GRCr8GRCr8
GRCr8 EnsemblX41,254,335 - 41,277,701 (+)EnsemblGRCr8
mRatBN7.2X37,410,914 - 37,461,130 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX37,410,811 - 37,464,430 (+)EnsemblmRatBN7.2
UTH_Rnor_SHR_UtxX38,609,601 - 38,657,263 (+)NCBIUTH_Rnor_SHR_UtxUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X42,076,796 - 42,124,460 (+)NCBIUTH_Rnor_SHRSP_BbbUtx_1.0UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X39,761,507 - 39,809,169 (+)NCBIUTH_Rnor_WKY_Bbb_1.0UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X40,258,933 - 40,309,047 (+)NCBIRnor_6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX40,258,493 - 40,310,563 (+)Ensemblrn6Rnor6.0
Rnor_5.0X40,569,195 - 40,619,334 (+)NCBIRnor_5.0Rnor_5.0rn5
RGSC_v3.4X58,708,065 - 58,757,022 (+)NCBIRGSC_v3.4RGSC_v3.4rn4
CeleraX38,039,020 - 38,086,670 (+)NCBICelera
Cytogenetic MapXq21NCBI
MBTPS2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X21,839,617 - 21,885,423 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX21,839,610 - 21,885,423 (+)Ensemblhg38GRCh38
GRCh37X21,857,735 - 21,903,541 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,767,675 - 21,810,794 (+)NCBIBuild 36Build 36hg18NCBI36
Build 34X21,617,410 - 21,660,530NCBI
CeleraX25,979,352 - 26,025,249 (+)NCBICelera
Cytogenetic MapXp22.12NCBI
HuRefX19,598,870 - 19,644,630 (+)NCBIHuRef
CHM1_1X21,888,082 - 21,933,974 (+)NCBICHM1_1
T2T-CHM13v2.0X21,422,918 - 21,468,735 (+)NCBIT2T-CHM13v2.0
Mbtps2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X156,330,818 - 156,381,711 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX156,318,367 - 156,381,711 (-)EnsemblGRCm39 EnsemblGRCm39
GRCm38X157,547,822 - 157,598,715 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX157,535,371 - 157,598,715 (-)Ensemblmm10GRCm38
MGSCv37X153,985,754 - 154,036,647 (-)NCBIMGSCv37MGSCv37mm9NCBIm37
MGSCv36X152,894,045 - 152,942,755 (-)NCBIMGSCv36mm8
CeleraX140,799,978 - 140,850,843 (-)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX72.55NCBI
Mbtps2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555092,184,522 - 2,222,505 (+)Ensembl
ChiLan1.0NW_0049555092,185,054 - 2,222,497 (+)NCBIChiLan1.0ChiLan1.0
MBTPS2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X23,648,185 - 23,742,670 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X23,651,590 - 23,713,273 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X14,470,268 - 14,529,854 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X21,825,780 - 21,871,381 (+)NCBIPanPan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX21,825,780 - 21,883,550 (+)EnsemblpanPan2panpan1.1
MBTPS2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X17,655,295 - 17,718,960 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX17,655,363 - 17,710,288 (+)EnsemblcanFam3CanFam3.1
ROS_Cfam_1.0X17,614,672 - 17,678,632 (+)NCBIROS_Cfam_1.0ROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX17,614,677 - 17,668,420 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X17,648,868 - 17,712,816 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X17,670,607 - 17,734,262 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X17,730,821 - 17,794,521 (+)NCBIUU_Cfam_GSD_1.0UU_Cfam_GSD_1.0
Mbtps2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X10,646,920 - 10,693,763 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366242,463,909 - 2,511,158 (-)EnsemblSpeTri2.0 Ensembl
SpeTri2.0NW_0049366242,464,152 - 2,510,984 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MBTPS2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1X18,013,360 - 18,054,250 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X19,216,635 - 19,252,134 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MBTPS2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X20,319,731 - 20,364,603 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX20,319,807 - 20,361,847 (+)EnsemblChlSab1.1 EnsemblchlSab2Vervet-AGM
Vero_WHO_p1.0NW_02366605622,172,318 - 22,218,601 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Mbtps2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248296,795,528 - 6,834,604 (+)EnsemblHetGla_female_1.0 EnsemblhetGla2HetGla_female_1.0 Ensembl
HetGla 1.0NW_0046248296,795,563 - 6,839,416 (+)NCBIHetGla 1.0HetGla 1.0hetGla2
Mbtps2
(Rattus rattus - black rat)
Black Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rrattus_CSIRO_v1X35,252,114 - 35,298,749 (-)NCBIRrattus_CSIRO_v1

Variants

.
Variants in Mbtps2
314 total Variants
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:245
Count of miRNA genes:154
Interacting mature miRNAs:184
Transcripts:ENSRNOT00000033010
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCr8)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1598873Memor2Memory QTL 22.5exploratory behavior trait (VT:0010471)average horizontal distance between subject and target during voluntary locomotion in an experimental apparatus (CMO:0002674)X2447036044931007Rat
70165Bp64Blood pressure QTL 645.2arterial blood pressure trait (VT:2000000)systolic blood pressure (CMO:0000004)X400149344939387Rat
2290375Gluco34Glucose level QTL 342.75blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)X2447036045082063Rat
731181Uae27Urinary albumin excretion QTL 272.70.0059urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)X197044046970440Rat
631666Iddm5Insulin dependent diabetes mellitus QTL 5blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)X811148653111486Rat

Markers in Region
AU048074  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2X37,458,722 - 37,458,858 (+)MAPPERmRatBN7.2
Rnor_6.0X40,306,640 - 40,306,775NCBIRnor6.0
Rnor_5.0X40,616,927 - 40,617,062UniSTSRnor5.0
RGSC_v3.4X58,757,126 - 58,757,261UniSTSRGSC3.4
CeleraX38,086,774 - 38,086,909UniSTS
Cytogenetic MapXq21UniSTS
UniSTS:530593  
Rat AssemblyChrPosition (strand)SourceJBrowse
mRatBN7.2X37,439,829 - 37,440,033 (+)MAPPERmRatBN7.2
Rnor_6.0X40,287,328 - 40,287,531NCBIRnor6.0
Rnor_5.0X40,597,615 - 40,597,818UniSTSRnor5.0
RGSC_v3.4X58,737,996 - 58,738,199UniSTSRGSC3.4
CeleraX38,067,881 - 38,068,084UniSTS
Cytogenetic MapXq21UniSTS


Expression

RNA-SEQ Expression

alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
16 12 67 165 91 90 59 92 59 6 356 192 11 144 81 92 31 17 17

Sequence


Ensembl Acc Id: ENSRNOT00000033010   ⟹   ENSRNOP00000031616
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,410,919 - 37,464,430 (+)Ensembl
Rnor_6.0 EnsemblX40,258,493 - 40,309,278 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000087898   ⟹   ENSRNOP00000071961
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,439,094 - 37,458,619 (+)Ensembl
Rnor_6.0 EnsemblX40,286,592 - 40,310,563 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000099895   ⟹   ENSRNOP00000081160
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,410,919 - 37,442,047 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000105689   ⟹   ENSRNOP00000078442
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,410,811 - 37,442,047 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000108352   ⟹   ENSRNOP00000095286
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,410,927 - 37,458,619 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000110665   ⟹   ENSRNOP00000087347
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,410,919 - 37,438,974 (+)Ensembl
Ensembl Acc Id: ENSRNOT00000117269   ⟹   ENSRNOP00000089986
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,410,907 - 37,442,047 (+)Ensembl
RefSeq Acc Id: NM_001035007   ⟹   NP_001030179
RefSeq Status: VALIDATED
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X41,225,985 - 41,273,675 (+)NCBI
mRatBN7.2X37,410,927 - 37,458,619 (+)NCBI
Rnor_6.0X40,258,933 - 40,306,536 (+)NCBI
Rnor_5.0X40,569,195 - 40,619,334 (+)NCBI
RGSC_v3.4X58,708,065 - 58,757,022 (+)RGD
CeleraX38,039,020 - 38,086,670 (+)RGD
Sequence:
RefSeq Acc Id: XM_063279940   ⟹   XP_063136010
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X41,225,956 - 41,290,030 (+)NCBI
RefSeq Acc Id: XM_063279941   ⟹   XP_063136011
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X41,225,956 - 41,281,431 (+)NCBI
RefSeq Acc Id: XM_063279942   ⟹   XP_063136012
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X41,233,011 - 41,290,030 (+)NCBI
RefSeq Acc Id: XM_063279943   ⟹   XP_063136013
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
GRCr8X41,232,965 - 41,276,186 (+)NCBI
RefSeq Acc Id: NP_001030179   ⟸   NM_001035007
- UniProtKB: A0A8I6AN61 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSRNOP00000031616   ⟸   ENSRNOT00000033010
Ensembl Acc Id: ENSRNOP00000071961   ⟸   ENSRNOT00000087898
Ensembl Acc Id: ENSRNOP00000078442   ⟸   ENSRNOT00000105689
Ensembl Acc Id: ENSRNOP00000081160   ⟸   ENSRNOT00000099895
Ensembl Acc Id: ENSRNOP00000095286   ⟸   ENSRNOT00000108352
Ensembl Acc Id: ENSRNOP00000089986   ⟸   ENSRNOT00000117269
Ensembl Acc Id: ENSRNOP00000087347   ⟸   ENSRNOT00000110665
RefSeq Acc Id: XP_063136010   ⟸   XM_063279940
- Peptide Label: isoform X1
RefSeq Acc Id: XP_063136011   ⟸   XM_063279941
- Peptide Label: isoform X2
- UniProtKB: D3ZDS6 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_063136013   ⟸   XM_063279943
- Peptide Label: isoform X4
RefSeq Acc Id: XP_063136012   ⟸   XM_063279942
- Peptide Label: isoform X3
Protein Domains
Peptidase M50

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-D3ZDS6-F1-model_v2 AlphaFold D3ZDS6 1-519 view protein structure

Transcriptome

eQTL   View at Phenogen
WGCNA   View at Phenogen
Tissue/Strain Expression   View at Phenogen


Additional Information

Database Acc Id Source(s)
AGR Gene RGD:1566171 AgrOrtholog
BioCyc Gene G2FUF-2466 BioCyc
Ensembl Genes ENSRNOG00000007644 Ensembl, UniProtKB/TrEMBL
  ENSRNOG00000076532 UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000087898.3 UniProtKB/TrEMBL
  ENSRNOT00000110665.2 UniProtKB/TrEMBL
  ENSRNOT00000154456.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.42.10 UniProtKB/TrEMBL
IMAGE_CLONE IMAGE:7453173 IMAGE-MGC_LOAD
InterPro PDZ_sf UniProtKB/TrEMBL
  Peptidase_M50 UniProtKB/TrEMBL
  SREBP_intramem_Prtase UniProtKB/TrEMBL
MGC_CLONE MGC:114434 IMAGE-MGC_LOAD
NCBI Gene 302705 ENTREZGENE
PANTHER MEMBRANE-BOUND TRANSCRIPTION FACTOR SITE-2 PROTEASE UniProtKB/TrEMBL
  PTHR13325 UniProtKB/TrEMBL
Pfam Peptidase_M50 UniProtKB/TrEMBL
PhenoGen Mbtps2 PhenoGen
PRINTS SREBPS2PTASE UniProtKB/TrEMBL
RatGTEx ENSRNOG00000007644 RatGTEx
  ENSRNOG00000076532 RatGTEx
Superfamily-SCOP SSF50156 UniProtKB/TrEMBL
UniProt A0A8I6A7T1_RAT UniProtKB/TrEMBL
  A0A8I6AN61 ENTREZGENE
  A0ABK0LHM2_RAT UniProtKB/TrEMBL
  A6IPP8_RAT UniProtKB/TrEMBL
  A6IPP9_RAT UniProtKB/TrEMBL
  D3ZDS6 ENTREZGENE
  Q4V8H3_RAT UniProtKB/TrEMBL
UniProt Secondary A0A0G2K1S2 UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2006-02-09 Mbtps2  membrane-bound transcription factor peptidase, site 2      Symbol and Name status set to provisional 70820 PROVISIONAL