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Mbtps2 Gene Detail
Summary
  • Symbol
    Mbtps2
  • Name
    membrane-bound transcription factor peptidase, site 2
  • Synonyms
    9630032G22Rik, MGC:25655
  • Feature Type
    protein coding gene
  • IDs
    MGI:2444506
    NCBI Gene: 270669
  • Alliance
    gene page
  • Transcription Start Sites
    7 TSS
Location &
Maps
more
  • Sequence Map
    ChrX:156330818-156381711 bp, - strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome X, 72.55 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    1003 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2444506
 protein coding gene ChrX:156318367-156381711 (-)
129S1/SvImJ MGP_129S1SvImJ_G0036218
 protein coding gene ChrX:155428850-155495592 (-)
A/J MGP_AJ_G0036188
 protein coding gene ChrX:154749978-154814701 (-)
AKR/J MGP_AKRJ_G0036116
 protein coding gene ChrX:159613231-159680787 (-)
BALB/cJ MGP_BALBcJ_G0036181
 protein coding gene ChrX:152803852-152868094 (-)
C3H/HeJ MGP_C3HHeJ_G0035887
 protein coding gene ChrX:155789208-155852234 (-)
C57BL/6NJ MGP_C57BL6NJ_G0036703
 protein coding gene ChrX:160012405-160082424 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0033524
 protein coding gene ChrX:146099429-146170000 (-)
CAST/EiJ MGP_CASTEiJ_G0035175
 protein coding gene ChrX:134877604-134945518 (-)
CBA/J MGP_CBAJ_G0035862
 protein coding gene ChrX:164593017-164668372 (-)
DBA/2J MGP_DBA2J_G0036028
 protein coding gene ChrX:153719899-153783308 (-)
FVB/NJ MGP_FVBNJ_G0035959
 protein coding gene ChrX:152808303-152875272 (-)
LP/J MGP_LPJ_G0036113
 protein coding gene ChrX:156591920-156658788 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0035991
 protein coding gene ChrX:173157819-173232018 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0036744
 protein coding gene ChrX:154981137-155047453 (-)
PWK/PhJ MGP_PWKPhJ_G0034873
 protein coding gene ChrX:131838176-131904186 (-)
SPRET/EiJ MGP_SPRETEiJ_G0034694
 protein coding gene ChrX:135349589-135427911 (-)
WSB/EiJ MGP_WSBEiJ_G0035310
 protein coding gene ChrX:152973545-153040774 (-)



Homology
more
  • Human Ortholog
    MBTPS2, membrane bound transcription factor peptidase, site 2
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    MBTPS2, membrane bound transcription factor peptidase, site 2
  • Synonyms
    BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P
  • Links
    NCBI Gene ID: 51360
    neXtProt AC: NX_O43462
    UniProt: O43462

  • Chr Location
    Xp22.12; chrX:21839617-21885423 (+)  GRCh38
Human Diseases
more
  • Diseases
    4 with human MBTPS2 associations

Human Disease Mouse Models
      
IDs
IDs
IDs
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    10 phenotypes from 2 alleles in 2 genetic backgrounds
    8 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
Homo- or hemizygosity for the p.N455S mutation is embryonic lethal, while female heterozygosity affects bone mineralization and articular cartilage development. Homo- or hemizygosity for a KO allele is embryonic lethal, while female heterozygosity affects articular cartilage development.
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
    22
  • GO References
    6
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
    770
  • Tissues
    34
  • cDNA Data
    10
  • Literature Summary
    1
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 270669 NCBI Gene Model | MGI Sequence Detail 50894 C57BL/6J ±  kb
    transcript NM_172307 RefSeq | MGI Sequence Detail 4799 C57BL/6  
    polypeptide Q8CHX6 UniProt | EBI | MGI Sequence Detail 515 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 13
      cDNA 11
      Primer pair 1
      Other 1

      Microarray probesets 3
    Other
    Accession IDs
    less
    MGI:2147907
    References
    more
    • Summaries
      All 37
      Developmental Gene Expression 1
      Gene Ontology 6
      Phenotypes 8
    • Earliest
      J:80000 The FANTOM Consortium and The RIKEN Genome Exploration Research Group Phase I & II Team, Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature. 2002;420:563-573
    • Latest
      J:344813 Tibbo AJ, et al., MBTPS2 acts as a regulator of lipogenesis and cholesterol synthesis through SREBP signalling in prostate cancer. Br J Cancer. 2023 Jun;128(11):1991-1999
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
    Citing These Resources
    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/05/2024
    MGI 6.24     		The Jackson Laboratory