U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Links from MedGen

    • Showing Current items.

    MBTPS2 membrane bound transcription factor peptidase, site 2 [ Homo sapiens (human) ]

    Gene ID: 51360, updated on 17-Jun-2024

    Summary

    Official Symbol
    MBTPS2provided by HGNC
    Official Full Name
    membrane bound transcription factor peptidase, site 2provided by HGNC
    Primary source
    HGNC:HGNC:15455
    See related
    Ensembl:ENSG00000012174 MIM:300294; AllianceGenome:HGNC:15455
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    S2P; IFAP; KFSD; OI19; KFSDX; OLMSX; BRESEK
    Summary
    This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009]
    Expression
    Ubiquitous expression in adrenal (RPKM 6.7), ovary (RPKM 6.4) and 25 other tissues See more
    Orthologs
    NEW
    Try the new Gene table
    Try the new Transcript table

    Genomic context

    See MBTPS2 in Genome Data Viewer
    Location:
    Xp22.12
    Exon count:
    11
    Annotation release Status Assembly Chr Location
    RS_2023_10 current GRCh38.p14 (GCF_000001405.40) X NC_000023.11 (21839617..21885423)
    RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) X NC_060947.1 (21422918..21468735)
    105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (21857735..21903541)

    Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene kelch like family member 34 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chrX:21704726-21705925 Neighboring gene small muscle protein X-linked Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29485 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 29486 Neighboring gene Sharpr-MPRA regulatory region 3899 Neighboring gene uncharacterized LOC124905259 Neighboring gene YY2 transcription factor Neighboring gene CYTH1 pseudogene 1

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Pathways from PubChem

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Clone Names

    • FLJ32174

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
     
    enables metalloendopeptidase activity EXP
    Inferred from Experiment
    more info
    PubMed 
    enables metalloendopeptidase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables metalloendopeptidase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    enables transcription regulator activator activity IGI
    Inferred from Genetic Interaction
    more info
    PubMed 
    Component Evidence Code Pubs
    is_active_in Golgi membrane ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    located_in Golgi membrane TAS
    Traceable Author Statement
    more info
     
    is_active_in cytoplasm IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in cytoplasm IDA
    Inferred from Direct Assay
    more info
    PubMed 
    located_in membrane TAS
    Traceable Author Statement
    more info
    PubMed 

    General protein information

    Preferred Names
    membrane-bound transcription factor site-2 protease
    Names
    SREBPs intramembrane protease
    endopeptidase S2P
    keratosis follicularis spinulosa decalvans
    membrane-bound transcription factor protease, site 2
    site-2 protease
    sterol regulatory element-binding proteins intramembrane protease
    NP_056968.1

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_012797.2 RefSeqGene

      Range
      5080..50886
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_015884.4NP_056968.1  membrane-bound transcription factor site-2 protease

      See identical proteins and their annotated locations for NP_056968.1

      Status: REVIEWED

      Source sequence(s)
      AF019612, AK056736, AK307143, AW204540, BX489533
      Consensus CDS
      CCDS14201.1
      UniProtKB/Swiss-Prot
      O43462, Q9UM70, Q9UMD3
      UniProtKB/TrEMBL
      A8KA68
      Related
      ENSP00000368798.5, ENST00000379484.10
      Conserved Domains (3) summary
      cd05709
      Location:419508
      S2P-M50; Site-2 protease (S2P) class of zinc metalloproteases (MEROPS family M50) cleaves transmembrane domains of substrate proteins, regulating intramembrane proteolysis (RIP) of diverse signal transduction mechanisms. Members of this family use proteolytic ...
      cd06162
      Location:18229
      S2P-M50_PDZ_SREBP; Sterol regulatory element-binding protein (SREBP) Site-2 protease (S2P), a zinc metalloprotease (MEROPS family M50A), regulates intramembrane proteolysis (RIP) of SREBP and is part of a signal transduction mechanism involved in sterol and lipid ...
      cl00117
      Location:255299
      PDZ; PDZ domain, also called DHR (Dlg homologous region) or GLGF (after a conserved sequence motif). Many PDZ domains bind C-terminal polypeptides, though binding to internal (non-C-terminal) polypeptides and even to lipids has been demonstrated. ...

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000023.11 Reference GRCh38.p14 Primary Assembly

      Range
      21839617..21885423
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060947.1 Alternate T2T-CHM13v2.0

      Range
      21422918..21468735
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)