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

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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: Predicted to enable metalloendopeptidase activity and transcription regulator activator activity. Predicted to be involved in several processes, including bone maturation; membrane protein intracellular domain proteolysis; and mitotic G2 DNA damage checkpoint signaling. Predicted to be located in membrane. Predicted to be active in cytoplasm. 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
Alliance Genes
More Info more info ...
Latest Assembly: mRatBN7.2 - mRatBN7.2 Assembly
Position:
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X41,225,956 - 41,290,030 (+)NCBIGRCr8
mRatBN7.2X37,410,914 - 37,461,130 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX37,410,811 - 37,464,430 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX38,609,601 - 38,657,263 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X42,076,796 - 42,124,460 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X39,761,507 - 39,809,169 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X40,258,933 - 40,309,047 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX40,258,493 - 40,310,563 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X40,569,195 - 40,619,334 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X58,708,065 - 58,757,022 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX38,039,020 - 38,086,670 (+)NCBICelera
Cytogenetic MapXq21NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,ISO)
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 (+)NCBIGRCr8
mRatBN7.2X37,410,914 - 37,461,130 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX37,410,811 - 37,464,430 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX38,609,601 - 38,657,263 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X42,076,796 - 42,124,460 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X39,761,507 - 39,809,169 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X40,258,933 - 40,309,047 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX40,258,493 - 40,310,563 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X40,569,195 - 40,619,334 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X58,708,065 - 58,757,022 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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 EnsemblX21,839,617 - 21,885,423 (+)EnsemblGRCh38hg38GRCh38
GRCh37X21,857,735 - 21,903,541 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36X21,767,675 - 21,810,794 (+)NCBINCBI36Build 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 Ensembl
GRCm38X157,547,822 - 157,598,715 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX157,535,371 - 157,598,715 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X153,985,754 - 154,036,647 (-)NCBIGRCm37MGSCv37mm9NCBIm37
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 (+)EnsemblChiLan1.0
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 (+)Ensemblpanpan1.1panPan2
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 (+)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X17,614,672 - 17,678,632 (+)NCBIROS_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_1.0
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 (-)EnsemblSpeTri2.0SpeTri2.0 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 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
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_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248296,795,563 - 6,839,416 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in Mbtps2
140 total Variants
miRNA Target Status

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 (mRatBN7.2)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
731181Uae27Urinary albumin excretion QTL 272.70.0059urine albumin amount (VT:0002871)urine albumin excretion rate (CMO:0000757)X143491017Rat
1298071Edpm12Estrogen-dependent pituitary mass QTL 123.2pituitary gland mass (VT:0010496)pituitary gland wet weight (CMO:0000853)X292789847927898Rat
10755455Coatc13Coat color QTL 130coat/hair pigmentation trait (VT:0010463)pigmented ventral coat/hair area to total ventral coat/hair area ratio (CMO:0001812)7440600049406000Rat
631666Iddm5Insulin dependent diabetes mellitus QTL 5blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)X449454949494549Rat
61430Cia18Collagen induced arthritis QTL 183.1joint integrity trait (VT:0010548)joint inflammation composite score (CMO:0000919)X14843113120568734Rat
71116Niddm16Non-insulin dependent diabetes mellitus QTL 167.81blood glucose amount (VT:0000188)plasma glucose level (CMO:0000042)X1529780260297802Rat
1598873Memor2Memory QTL 22.5exploratory behavior trait (VT:0010471)average horizontal distance between subject and target during voluntary locomotion in an experimental apparatus (CMO:0002674)X2099094741052531Rat
2290375Gluco34Glucose level QTL 342.75blood glucose amount (VT:0000188)blood glucose level area under curve (AUC) (CMO:0000350)X2099094741203591Rat

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
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system appendage
High
Medium 4 4 4 51 14 26
Low 3 43 53 37 19 37 8 10 23 21 15 11 8
Below cutoff 1

Sequence


Reference Sequences
RefSeq 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
RefSeq 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
RefSeq Acc Id: ENSRNOT00000099895   ⟹   ENSRNOP00000081160
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,410,919 - 37,442,047 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000105689   ⟹   ENSRNOP00000078442
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,410,811 - 37,442,047 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000108352   ⟹   ENSRNOP00000095286
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,410,927 - 37,458,619 (+)Ensembl
RefSeq Acc Id: ENSRNOT00000110665   ⟹   ENSRNOP00000087347
Type: CODING
Position:
Rat AssemblyChrPosition (strand)Source
mRatBN7.2 EnsemblX37,410,919 - 37,438,974 (+)Ensembl
RefSeq 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
Reference Protein Sequences
RefSeq Acc Id: NP_001030179   ⟸   NM_001035007
- UniProtKB: A0A8I6AN61 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSRNOP00000031616   ⟸   ENSRNOT00000033010
RefSeq Acc Id: ENSRNOP00000071961   ⟸   ENSRNOT00000087898
RefSeq Acc Id: ENSRNOP00000078442   ⟸   ENSRNOT00000105689
RefSeq Acc Id: ENSRNOP00000081160   ⟸   ENSRNOT00000099895
RefSeq Acc Id: ENSRNOP00000095286   ⟸   ENSRNOT00000108352
RefSeq Acc Id: ENSRNOP00000089986   ⟸   ENSRNOT00000117269
RefSeq 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, ENTREZGENE, UniProtKB/TrEMBL
Ensembl Transcript ENSRNOT00000033010.5 UniProtKB/TrEMBL
  ENSRNOT00000087898.2 UniProtKB/TrEMBL
  ENSRNOT00000108352 ENTREZGENE
  ENSRNOT00000108352.1 UniProtKB/TrEMBL
  ENSRNOT00000110665.1 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
KEGG Report rno:302705 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
Superfamily-SCOP SSF50156 UniProtKB/TrEMBL
UniProt A0A0G2K1S2_RAT UniProtKB/TrEMBL
  A0A8I6A7T1_RAT UniProtKB/TrEMBL
  A0A8I6AN61 ENTREZGENE, UniProtKB/TrEMBL
  A6IPP8_RAT UniProtKB/TrEMBL
  A6IPP9_RAT UniProtKB/TrEMBL
  D3ZDS6 ENTREZGENE, UniProtKB/TrEMBL
  Q4V8H3_RAT 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