About   Help   FAQ
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
Location & Maps
more
  • Sequence Map
    ChrX:157535371-157598715 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      63345 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    MBTPS2, membrane bound transcription factor peptidase, site 2
  • Vertebrate Orthologs
    10
  • Human Ortholog
    MBTPS2, membrane bound transcription factor peptidase, site 2
    Orthology source: HGNC, HomoloGene
  • Synonyms
    BRESEK, IFAP, KFSD, KFSDX, OLMSX, S2P
  • Links
    NCBI Gene ID: 51360
    neXtProt AC: NX_O43462

  • Chr Location
    Xp22.12-p22.11; chrX:21839538-21885423 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    3 with human MBTPS2 associations

Human Disease Mouse Models
       Ifap Syndrome with or without Bresheck Syndrome   OMIM: 308205
Keratosis Follicularis Spinulosa Decalvans, X-Linked; KFSDX   OMIM: 308800
Palmoplantar Keratoderma, Mutilating, with Periorificial Keratotic Plaques, X-Linked   OMIM: 300918
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    6 phenotype references
  • All Mutations and Alleles
    13
  • Gene trapped
    11
  • Targeted
    2
  • Incidental Mutations
    APF
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

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

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
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
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019403 VEGA Gene Model | MGI Sequence Detail 63345 C57BL/6J ±  kb
transcript OTTMUST00000046301 VEGA | MGI Sequence Detail 4797 Not Applicable  
polypeptide OTTMUSP00000020911 VEGA | MGI Sequence Detail 515 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    123 from dbSNP Build 142
Protein
Information
less
  • Protein Ontology
    PR:000010230 membrane-bound transcription factor site-2 protease
Molecular
Reagents
less
  • All nucleic 12
    cDNA 10
    Primer pair 1
    Other 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2147907
References
more
  • Summaries
    All 28
    Developmental Gene Expression 1
    Gene Ontology 2
    Phenotypes 6
  • 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:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
04/26/2016
MGI 6.03
The Jackson Laboratory